Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg)	SNV Germline	Chr13:20223450	Pathogenic	Hidrotic ectodermal dysplasia syndrome Condition: not provided Hidrotic ectodermal dysplasia syndrome Autosomal dominant nonsyndromic hearing loss 3B Autosomal recessive nonsyndromic hearing loss 1A Autosomal recessive nonsyndromic hearing loss 1B GJB6-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA253526	rs_104894415	11 SubmittersRCV000005882 RCV000255581 RCV000645727 RCV003335016
NM_001110219.3(GJB6):c.263C>T (p.Ala88Val)	SNV Germline	Chr13:20223218	Pathogenic	Hidrotic ectodermal dysplasia syndrome Hidrotic ectodermal dysplasia syndrome Autosomal dominant nonsyndromic hearing loss 3B Autosomal recessive nonsyndromic hearing loss 1A Autosomal recessive nonsyndromic hearing loss 1B Hidrotic ectodermal dysplasia syndrome X-linked mixed hearing loss with perilymphatic gusher Autosomal dominant nonsyndromic hearing loss 3B Autosomal recessive nonsyndromic hearing loss 1A Autosomal recessive nonsyndromic hearing loss 1B	Criteria Provided Multiple Submitters No Conflicts	CA253528	rs_28937872	4 SubmittersRCV000005883 RCV000798432 RCV002504751
NM_024009.3(GJB3):c.580G>A (p.Ala194Thr)	SNV Germline	Chr1:34785342	Conflicting classifications of pathogenicity	Deafness, digenic, GJB2/GJB3 Erythrokeratodermia variabilis et progressiva 1 Condition: not provided Autosomal recessive nonsyndromic hearing loss 1A Autosomal dominant nonsyndromic hearing loss 2B Erythrokeratodermia variabilis et progressiva 1	Criteria Provided Conflicting Classifications	CA118313	rs_117385606	8 SubmittersRCV000006866 RCV000404541 RCV001510379 RCV002504756
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	SNV Germline	Chr13:20189481	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided Nonsyndromic genetic hearing loss Autosomal dominant nonsyndromic hearing loss 3A Hearing loss Autosomal recessive nonsyndromic hearing loss 1B Autosomal recessive nonsyndromic hearing loss 1A Rare genetic deafness Nonsyndromic Deafness 7 conditions Inborn genetic diseases Hearing impairment See cases Autosomal dominant nonsyndromic hearing loss 3A Autosomal recessive nonsyndromic hearing loss 1A Autosomal dominant keratitis-ichthyosis-hearing loss syndrome GJB2-related disorder Monogenic hearing loss	Reviewed By Expert Panel	CA172206	rs_35887622	56 SubmittersRCV000018523 RCV000080364 RCV000211758 RCV000487479 RCV000678866 RCV001004397 RCV000844701 RCV001270137 RCV001027827 RCV001266565 RCV001375142 RCV002251910 RCV004700251 RCV004783726 RCV004724749 RCV006449938
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)	SNV Germline	Chr13:20189351	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Rare genetic deafness Condition: not provided 8 conditions Autosomal recessive nonsyndromic hearing loss 1B Autosomal recessive nonsyndromic hearing loss 1A Hearing loss, autosomal recessive Monogenic hearing loss Knuckle pads, deafness AND leukonychia syndrome 7 conditions Sensorineural hearing loss disorder	Criteria Provided Multiple Submitters No Conflicts	CA341437	rs_80338944	24 SubmittersRCV000018524 RCV000211767 RCV000711349 RCV000762904 RCV001004393 RCV001291332 RCV005862503 RCV005229816 RCV005007866 RCV005420505
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)	SNV Germline	Chr13:20189511	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Hearing impairment Nonsyndromic genetic hearing loss Condition: not provided Autosomal dominant nonsyndromic hearing loss 3A Hearing loss Autosomal recessive nonsyndromic hearing loss 1B Autosomal recessive nonsyndromic hearing loss 1A Rare genetic deafness Ichthyosis, hystrix-like, with hearing loss Hearing loss, autosomal recessive Mutilating keratoderma Palmoplantar keratoderma-deafness syndrome Hereditary palmoplantar keratoderma 7 conditions GJB2-related disorder Knuckle pads, deafness AND leukonychia syndrome Monogenic hearing loss Sensorineural hearing loss disorder	Reviewed By Expert Panel	CA172240	rs_104894396	48 SubmittersRCV000018525 RCV000146028 RCV000211778 RCV000255370 RCV000411010 RCV000678864 RCV001004398 RCV000844631 RCV001112641 RCV001291329 RCV002247354 RCV003388568 RCV004798735 RCV005003380 RCV004734522 RCV005229817 RCV006455049 RCV005420506
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)	SNV Germline	Chr13:20189353	Pathogenic/Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided Rare genetic deafness Autosomal dominant nonsyndromic hearing loss 3A Autosomal recessive nonsyndromic hearing loss 1B Autosomal recessive nonsyndromic hearing loss 1A Nonsyndromic genetic hearing loss Hearing impairment GJB2-related disorder 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA222246	rs_104894397	22 SubmittersRCV000018526 RCV000080368 RCV000211765 RCV000412297 RCV001004394 RCV001257039 RCV001526518 RCV004532383 RCV005003381
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)	SNV Germline	Chr13:20189443	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided Hearing impairment Rare genetic deafness Hearing loss Nonsyndromic genetic hearing loss GJB2-related disorder 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA172213	rs_104894398	26 SubmittersRCV000018529 RCV000080366 RCV000146008 RCV000211760 RCV000678867 RCV001257036 RCV004734523 RCV005003382
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)	SNV Germline	Chr13:20189031	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Rare genetic deafness Hearing loss Condition: not provided 8 conditions Autosomal dominant nonsyndromic hearing loss 3A Nonsyndromic genetic hearing loss 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA341438	rs_80338950	19 SubmittersRCV000018531 RCV000211781 RCV000678888 RCV000657913 RCV000763321 RCV001112462 RCV001257160 RCV005007867
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)	SNV Germline	Chr13:20189155	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Hearing impairment Rare genetic deafness Condition: not provided Hearing loss 7 conditions Autosomal dominant nonsyndromic hearing loss 3A Nonsyndromic genetic hearing loss GJB2-related disorder Palmoplantar keratoderma-deafness syndrome Knuckle pads, deafness AND leukonychia syndrome Mutilating keratoderma	Criteria Provided Multiple Submitters No Conflicts	CA172234	rs_80338948	29 SubmittersRCV000018533 RCV000146023 RCV000211779 RCV000255157 RCV000678885 RCV001027826 RCV001196233 RCV001257564 RCV004532385 RCV005357139
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)	SNV Germline	Chr13:20189313	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Hearing impairment Condition: not provided Rare genetic deafness Autosomal dominant nonsyndromic hearing loss 3A 8 conditions Hearing loss Autosomal recessive nonsyndromic hearing loss 1B Autosomal recessive nonsyndromic hearing loss 1A Nonsyndromic genetic hearing loss Ichthyosis, hystrix-like, with hearing loss See cases Deafness 7 conditions GJB2-related disorder Mutilating keratoderma Knuckle pads, deafness AND leukonychia syndrome Palmoplantar keratoderma-deafness syndrome Monogenic hearing loss Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA172219	rs_80338945	47 SubmittersRCV000018541 RCV000146013 RCV000080369 RCV000211772 RCV000409625 RCV000515450 RCV000678875 RCV001004391 RCV001257157 RCV001109788 RCV002227041 RCV001775068 RCV003224102 RCV004734524 RCV005364882 RCV006449939 RCV006362023
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln)	SNV Germline	Chr13:20189154	Pathogenic/Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Autosomal dominant nonsyndromic hearing loss 3A Condition: not provided 7 conditions Nonsyndromic genetic hearing loss	Criteria Provided Multiple Submitters No Conflicts	CA257677	rs_104894401	11 SubmittersRCV000018543 RCV000018542 RCV000484997 RCV005007869 RCV006262323
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	SNV Germline	Chr13:20189473	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided Hearing impairment Nonsyndromic genetic hearing loss Autosomal dominant nonsyndromic hearing loss 3A Autosomal recessive nonsyndromic hearing loss 1B Autosomal recessive nonsyndromic hearing loss 1A Nonsyndromic Deafness Inborn genetic diseases GJB2-related disorder 7 conditions Hearing loss, autosomal recessive Mutilating keratoderma Knuckle pads, deafness AND leukonychia syndrome Palmoplantar keratoderma-deafness syndrome	Reviewed By Expert Panel	CA172210	rs_72474224	58 SubmittersRCV000018550 RCV000080365 RCV000146005 RCV000211759 RCV001002768 RCV001004396 RCV001270106 RCV002514109 RCV003335045 RCV004795923 RCV004699117 RCV005357142
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln)	SNV Germline	Chr13:20189358	Pathogenic	Palmoplantar keratoderma-deafness syndrome Autosomal dominant nonsyndromic hearing loss 3A Rare genetic deafness Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided Hearing loss, autosomal recessive Nonsyndromic genetic hearing loss Hereditary palmoplantar keratoderma Nonsyndromic Deafness Hearing impairment	Criteria Provided Multiple Submitters No Conflicts	CA127030	rs_28931593	10 SubmittersRCV000018554 RCV000018555 RCV000211764 RCV000210858 RCV000254728 RCV001291331 RCV001257038 RCV004771802 RCV005624697
NM_004004.6(GJB2):c.-23+1G>A	SNV Germline	Chr13:20192782	Pathogenic/Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Hearing impairment Rare genetic deafness Condition: not provided Hearing loss Autosomal recessive nonsyndromic hearing loss 1B Autosomal recessive nonsyndromic hearing loss 1A Nonsyndromic genetic hearing loss Hearing loss, autosomal recessive Ear malformation Autosomal dominant nonsyndromic hearing loss 3A Autosomal recessive nonsyndromic hearing loss 104 GJB2-related disorder Mutilating keratoderma Palmoplantar keratoderma-deafness syndrome Knuckle pads, deafness AND leukonychia syndrome Hereditary palmoplantar keratoderma 7 conditions Monogenic hearing loss	Criteria Provided Multiple Submitters No Conflicts	CA172205	rs_80338940	42 SubmittersRCV000018557 RCV000146002 RCV000211766 RCV000418755 RCV000678858 RCV001004401 RCV001257033 RCV001291328 RCV001813995 RCV003147300 RCV003458323 RCV004532386 RCV005364883 RCV004798737 RCV005003385 RCV006454635
NM_004004.6(GJB2):c.250G>C (p.Val84Leu)	SNV Germline	Chr13:20189332	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Hearing impairment Rare genetic deafness Condition: not provided Nonsyndromic genetic hearing loss 8 conditions GJB2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA172218	rs_104894409	17 SubmittersRCV000018560 RCV000146012 RCV000211770 RCV001041795 RCV001257042 RCV002504805 RCV003335046
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu)	SNV Germline	Chr13:20189448	Pathogenic	Autosomal dominant keratitis-ichthyosis-hearing loss syndrome Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA127033	rs_72561723	8 SubmittersRCV000018561 RCV000022510 RCV001851914 RCV005007870
NC_000013.11:g.20193020G>A	SNV Germline	Chr13:20193020	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 1A	No Assertion Criteria Provided	CA10575532	rs_886037626	2 SubmittersRCV000018563
NM_004004.6(GJB2):c.250G>A (p.Val84Met)	SNV Germline	Chr13:20189332	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided Rare genetic deafness Autosomal dominant nonsyndromic hearing loss 3A Progressive sensorineural hearing impairment GJB2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA257683	rs_104894409	10 SubmittersRCV000018564 RCV000254760 RCV000211769 RCV000410225 RCV000626853 RCV004532387
NM_004004.6(GJB2):c.35G>T (p.Gly12Val)	SNV Germline	Chr13:20189547	Pathogenic/Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Hearing impairment Rare genetic deafness Autosomal dominant nonsyndromic hearing loss 3A Condition: not provided Nonsyndromic genetic hearing loss GJB2-related disorder Mutilating keratoderma Knuckle pads, deafness AND leukonychia syndrome Palmoplantar keratoderma-deafness syndrome 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA172228	rs_1801002	19 SubmittersRCV000020570 RCV000146020 RCV000211720 RCV000412324 RCV000711351 RCV001257034 RCV004734527 RCV005357157 RCV005003401
NM_004004.6(GJB2):c.487A>G (p.Met163Val)	SNV Germline	Chr13:20189095	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 1A not specified Condition: not provided Nonsyndromic genetic hearing loss Hearing impairment Autosomal dominant nonsyndromic hearing loss 3A 8 conditions 7 conditions	Criteria Provided Conflicting Classifications	CA134981	rs_80338949	14 SubmittersRCV000020573 RCV000037860 RCV001092709 RCV001257048 RCV001375209 RCV001787816 RCV005400418 RCV005007887
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr)	SNV Germline	Chr13:20189526	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Rare genetic deafness Condition: not provided Hearing loss Nonsyndromic genetic hearing loss	Reviewed By Expert Panel	CA342005	rs_80338941	10 SubmittersRCV000020575 RCV000602210 RCV000757333 RCV000678862 RCV001257035
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)	SNV Germline	Chr13:20189031	Pathogenic	Autosomal dominant nonsyndromic hearing loss 3A Hearing impairment Condition: not provided Hearing loss Rare genetic deafness not specified Nonsyndromic genetic hearing loss Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Multiple Submitters No Conflicts	CA172235	rs_80338950	19 SubmittersRCV000022511 RCV000146024 RCV000480903 RCV000678889 RCV000826191 RCV001001450 RCV002281716 RCV003236759
NM_004004.6(GJB2):c.*1C>T	SNV Germline	Chr13:20188900	Conflicting classifications of pathogenicity	not specified Ichthyosis, hystrix-like, with hearing loss Autosomal dominant nonsyndromic hearing loss 3A Condition: not provided Autosomal recessive nonsyndromic hearing loss 1A Nonsyndromic genetic hearing loss GJB2-related disorder	Criteria Provided Conflicting Classifications	CA134940	rs_111033327	12 SubmittersRCV000037802 RCV000296648 RCV000344717 RCV000586188 RCV000674792 RCV001257161 RCV004734551
NM_004004.6(GJB2):c.-6T>A	SNV Germline	Chr13:20189587	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 1A Autosomal dominant nonsyndromic hearing loss 3A Ichthyosis, hystrix-like, with hearing loss Condition: not provided nonsyndromic sensorineural hearing loss GJB2-related disorder	Criteria Provided Conflicting Classifications	CA134946	rs_148136545	10 SubmittersRCV000037809 RCV000311687 RCV000336963 RCV000351365 RCV000586780 RCV001374657 RCV004534803
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp)	SNV Germline	Chr13:20189571	Conflicting classifications of pathogenicity	not specified Ichthyosis, hystrix-like, with hearing loss Autosomal recessive nonsyndromic hearing loss 1A Autosomal dominant nonsyndromic hearing loss 3A Condition: not provided	Criteria Provided Conflicting Classifications	CA134947	rs_111033222	15 SubmittersRCV000037814 RCV000290549 RCV000321209 RCV000345561 RCV000756205
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter)	SNV Germline	Chr13:20189413	Pathogenic	Rare genetic deafness Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided Hearing loss GJB2-related disorder 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA261637	rs_111033297	13 SubmittersRCV000211761 RCV000505512 RCV000711347 RCV000678870 RCV004534804 RCV005003433
NM_004004.6(GJB2):c.194A>G (p.Tyr65Cys)	SNV Germline	Chr13:20189388	Conflicting classifications of pathogenicity	Rare genetic deafness Condition: not provided Autosomal recessive nonsyndromic hearing loss 1A not specified 7 conditions	Criteria Provided Conflicting Classifications	CA261639	rs_111033203	7 SubmittersRCV000037819 RCV001731333 RCV001826561 RCV004526604 RCV005007953
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter)	SNV Germline	Chr13:20189563	Pathogenic/Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Rare genetic deafness Inborn genetic diseases Condition: not provided 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA261641	rs_111033451	8 SubmittersRCV000037820 RCV000211718 RCV000624822 RCV001389832 RCV005007954
NM_004004.6(GJB2):c.1A>G (p.Met1Val)	SNV Germline	Chr13:20189581	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Rare genetic deafness Condition: not provided 8 conditions Nonsyndromic genetic hearing loss Monogenic hearing loss	Reviewed By Expert Panel	CA198806	rs_111033293	14 SubmittersRCV000037821 RCV000211762 RCV000724654 RCV000762907 RCV003990963 RCV006255137
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro)	SNV Germline	Chr13:20189355	Likely pathogenic	not specified Nonsyndromic genetic hearing loss Autosomal dominant nonsyndromic hearing loss 3A Condition: not provided Autosomal recessive nonsyndromic hearing loss 1A	Reviewed By Expert Panel	CA134953	rs_111033361	8 SubmittersRCV000037824 RCV001252671 RCV001836634 RCV001852792 RCV005237459
NM_004004.6(GJB2):c.279G>A (p.Met93Ile)	SNV Germline	Chr13:20189303	Pathogenic/Likely pathogenic	Rare genetic deafness Condition: not provided Autosomal recessive nonsyndromic hearing loss 1A 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA134957	rs_397516871	7 SubmittersRCV000037832 RCV000523752 RCV000675160 RCV002482993
NM_004004.6(GJB2):c.283G>A (p.Val95Met)	SNV Germline	Chr13:20189299	Pathogenic/Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Hearing impairment Rare genetic deafness 8 conditions Condition: not provided Nonsyndromic genetic hearing loss GJB2-related disorder 7 conditions Nonsyndromic Deafness	Criteria Provided Multiple Submitters No Conflicts	CA172220	rs_111033299	17 SubmittersRCV000037834 RCV000146014 RCV000211719 RCV000515247 RCV000516830 RCV001257560 RCV004734552 RCV005007955 RCV006255138
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)	SNV Germline	Chr13:20189548	Likely pathogenic	Nonsyndromic genetic hearing loss Condition: not provided Hearing impairment Autosomal recessive nonsyndromic hearing loss 1A Autosomal dominant nonsyndromic hearing loss 3A Hearing loss Autosomal recessive nonsyndromic hearing loss 1B Autosomal recessive nonsyndromic hearing loss 1A Rare genetic deafness Mutilating keratoderma 7 conditions GJB2-related disorder	Reviewed By Expert Panel	CA172224	rs_104894408	18 SubmittersRCV000037839 RCV000080371 RCV000146017 RCV000410006 RCV000411497 RCV000678859 RCV001004399 RCV000844703 RCV002247424 RCV003224797 RCV004734553
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)	SNV Germline	Chr13:20189217	Pathogenic/Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Hearing impairment Rare genetic deafness Autosomal dominant nonsyndromic hearing loss 3A Hearing loss Condition: not provided not specified Inborn genetic diseases 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA172230	rs_111033295	14 SubmittersRCV000037844 RCV000146021 RCV000211721 RCV000412394 RCV000678882 RCV000757331 RCV000999926 RCV004018850 RCV005007957
NM_004004.6(GJB2):c.370C>T (p.Gln124Ter)	SNV Germline	Chr13:20189212	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Rare genetic deafness Hearing loss Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA261645	rs_397516874	11 SubmittersRCV000037846 RCV000211777 RCV000678883 RCV001171668
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)	SNV Germline	Chr13:20189166	Pathogenic/Likely pathogenic	Rare genetic deafness Hearing impairment Condition: not provided Autosomal recessive nonsyndromic hearing loss 1A Autosomal dominant nonsyndromic hearing loss 3A 8 conditions Hearing loss Autosomal recessive nonsyndromic hearing loss 1A Autosomal recessive nonsyndromic hearing loss 1B 7 conditions Intellectual disability Mutilating keratoderma Palmoplantar keratoderma-deafness syndrome Knuckle pads, deafness AND leukonychia syndrome	Criteria Provided Multiple Submitters No Conflicts	CA172232	rs_76434661	27 SubmittersRCV000037851 RCV000146022 RCV000255015 RCV000289146 RCV000409236 RCV000515309 RCV000678884 RCV001004388 RCV005007958 RCV005625227 RCV005357270
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr)	SNV Germline	Chr13:20189538	Pathogenic/Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Rare genetic deafness Condition: not provided 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA261649	rs_111033217	9 SubmittersRCV000037855 RCV000211780 RCV000490112 RCV005003434
NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter)	SNV Germline	Chr13:20189126	Pathogenic/Likely pathogenic	Rare genetic deafness Condition: not provided Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Multiple Submitters No Conflicts	CA261651	rs_111033420	6 SubmittersRCV000037856 RCV000578957 RCV000667555
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)	SNV Germline	Chr13:20189104	Conflicting classifications of pathogenicity	not specified Ichthyosis, hystrix-like, with hearing loss Autosomal dominant nonsyndromic hearing loss 3A Nonsyndromic Deafness Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided Nonsyndromic genetic hearing loss Autosomal dominant keratitis-ichthyosis-hearing loss syndrome GJB2-related disorder	Criteria Provided Conflicting Classifications	CA134977	rs_34988750	17 SubmittersRCV000037858 RCV000329133 RCV000359564 RCV000501921 RCV000674006 RCV000587337 RCV001257159 RCV001563854 RCV004534807
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg)	SNV Germline	Chr13:20189079	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided Nonsyndromic genetic hearing loss	Criteria Provided Conflicting Classifications	CA134979	rs_200104362	8 SubmittersRCV000037859 RCV000505507 RCV000590717 RCV001257049
NM_004004.6(GJB2):c.499G>A (p.Val167Met)	SNV Germline	Chr13:20189083	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided 8 conditions	Criteria Provided Conflicting Classifications	CA134983	rs_111033360	6 SubmittersRCV000037861 RCV000665938 RCV000991849 RCV005400421
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr)	SNV Germline	Chr13:20189071	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided	Criteria Provided Conflicting Classifications	CA134985	rs_201004645	8 SubmittersRCV000037862 RCV000505525 RCV002513485
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)	SNV Germline	Chr13:20188965	Pathogenic/Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Hearing impairment Rare genetic deafness Condition: not provided Autosomal recessive nonsyndromic hearing loss 1A Autosomal recessive nonsyndromic hearing loss 1B Nonsyndromic genetic hearing loss GJB2-related disorder 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA172236	rs_111033294	18 SubmittersRCV000037868 RCV000146025 RCV000211783 RCV000724546 RCV001004386 RCV001257566 RCV004734554 RCV005003435
NM_004004.6(GJB2):c.95G>A (p.Arg32His)	SNV Germline	Chr13:20189487	Pathogenic	Rare genetic deafness Autosomal recessive nonsyndromic hearing loss 1A Autosomal dominant nonsyndromic hearing loss 3A Condition: not provided nonsyndromic sensorineural hearing loss GJB2-related disorder Monogenic hearing loss	Criteria Provided Multiple Submitters No Conflicts	CA261654	rs_111033190	12 SubmittersRCV000037873 RCV000410025 RCV000411577 RCV001218538 RCV001374640 RCV004534808 RCV006258939
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter)	SNV Germline	Chr13:20189573	Pathogenic/Likely pathogenic	Rare genetic deafness Autosomal recessive nonsyndromic hearing loss 1A Nonsyndromic genetic hearing loss Condition: not provided 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA261655	rs_111033401	8 SubmittersRCV000037874 RCV000666282 RCV001293597 RCV001852793 RCV002496604
NM_001110219.3(GJB6):c.15G>A (p.Thr5=)	SNV Germline	Chr13:20223466	Conflicting classifications of pathogenicity	not specified Condition: not provided Hidrotic ectodermal dysplasia syndrome Autosomal recessive nonsyndromic hearing loss 1A Autosomal recessive nonsyndromic hearing loss 1B Autosomal dominant nonsyndromic hearing loss 3B Hidrotic ectodermal dysplasia syndrome	Criteria Provided Conflicting Classifications	CA136456	rs_150075979	5 SubmittersRCV000038706 RCV000723383 RCV001112813 RCV002054714
NM_001110219.3(GJB6):c.489G>A (p.Leu163=)	SNV Germline	Chr13:20222992	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal dominant nonsyndromic hearing loss 3B Hidrotic ectodermal dysplasia syndrome Autosomal recessive nonsyndromic hearing loss 1A Autosomal recessive nonsyndromic hearing loss 1B Hidrotic ectodermal dysplasia syndrome	Criteria Provided Conflicting Classifications	CA136461	rs_35002004	6 SubmittersRCV000038708 RCV000723451 RCV001080917 RCV001110053
NM_004004.6(GJB2):c.187G>A (p.Val63Met)	SNV Germline	Chr13:20189395	Likely pathogenic	Condition: not provided Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Multiple Submitters No Conflicts	CA222244	rs_370696868	3 SubmittersRCV000080367 RCV005431465
NM_004004.6(GJB2):c.298C>T (p.His100Tyr)	SNV Germline	Chr13:20189284	Pathogenic	Hearing impairment Autosomal recessive nonsyndromic hearing loss 1A Rare genetic deafness Hearing loss Condition: not provided nonsyndromic sensorineural hearing loss GJB2-related disorder 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA172221	rs_143343083	17 SubmittersRCV000146015 RCV000169347 RCV000215444 RCV000678877 RCV000798119 RCV001374647 RCV004734702 RCV005008049
NM_004004.6(GJB2):c.132G>A (p.Trp44Ter)	SNV Germline	Chr13:20189450	Pathogenic	Hearing impairment Condition: not provided Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Multiple Submitters No Conflicts	CA172211	rs_104894407	9 SubmittersRCV000146007 RCV000593364 RCV000984267
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp)	SNV Germline	Chr13:20189089	Conflicting classifications of pathogenicity	not specified Ichthyosis, hystrix-like, with hearing loss Autosomal dominant nonsyndromic hearing loss 3A Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided	Criteria Provided Conflicting Classifications	CA180672	rs_376898963	10 SubmittersRCV000154346 RCV000299050 RCV000404295 RCV000668216 RCV000724444
NM_004004.6(GJB2):c.379C>T (p.Arg127Cys)	SNV Germline	Chr13:20189203	Pathogenic/Likely pathogenic	Rare genetic deafness 8 conditions Condition: not provided Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Multiple Submitters No Conflicts	CA176158	rs_727503066	5 SubmittersRCV000150729 RCV000762903 RCV001785477 RCV005237586
NM_004004.6(GJB2):c.239A>C (p.Gln80Pro)	SNV Germline	Chr13:20189343	Pathogenic/Likely pathogenic	Rare genetic deafness Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided Nonsyndromic genetic hearing loss	Criteria Provided Multiple Submitters No Conflicts	CA273446	rs_727504302	7 SubmittersRCV000154345 RCV000505508 RCV001288584 RCV005237590
NM_004004.6(GJB2):c.188T>C (p.Val63Ala)	SNV Germline	Chr13:20189394	Conflicting classifications of pathogenicity	not specified Condition: not provided 8 conditions Autosomal recessive nonsyndromic hearing loss 1A 7 conditions	Criteria Provided Conflicting Classifications	CA180700	rs_727504309	8 SubmittersRCV000154364 RCV000711348 RCV000765115 RCV001271875 RCV005008061
NM_004004.6(GJB2):c.250G>T (p.Val84Leu)	SNV Germline	Chr13:20189332	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A not specified Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA234087	rs_104894409	11 SubmittersRCV000169112 RCV000505951 RCV000790715
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys)	SNV Germline	Chr13:20189227	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 3A Autosomal recessive nonsyndromic hearing loss 1A Ichthyosis, hystrix-like, with hearing loss Hearing loss not specified Sensorineural hearing loss disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA273833	rs_150529554	12 SubmittersRCV000336897 RCV000278504 RCV000407574 RCV000678880 RCV000757332 RCV001175238 RCV001288924
NM_004004.6(GJB2):c.208C>G (p.Pro70Ala)	SNV Germline	Chr13:20189374	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Multiple Submitters No Conflicts	CA273831	rs_200023879	3 SubmittersRCV001895869 RCV005629670
NM_004004.6(GJB2):c.598G>T (p.Gly200Ter)	SNV Germline	Chr13:20188984	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Nonsyndromic genetic hearing loss	Criteria Provided Multiple Submitters No Conflicts	CA274205	rs_786204597	3 SubmittersRCV000169350 RCV005055667
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe)	SNV Germline	Chr13:20188986	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Rare genetic deafness Condition: not provided 7 conditions GJB2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA274470	rs_771748289	13 SubmittersRCV000169613 RCV000609655 RCV000991850 RCV003224180 RCV004535149
NM_004004.6(GJB2):c.408C>A (p.Tyr136Ter)	SNV Germline	Chr13:20189174	Pathogenic/Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274369	rs_786204690	4 SubmittersRCV000169498 RCV001850402
NM_004004.6(GJB2):c.246C>G (p.Ile82Met)	SNV Germline	Chr13:20189336	Pathogenic/Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided Nonsyndromic genetic hearing loss GJB2-related disorder 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA273919	rs_781534323	8 SubmittersRCV000169070 RCV001207124 RCV001257041 RCV004528922 RCV005008087
NM_004004.6(GJB2):c.230G>A (p.Trp77Ter)	SNV Germline	Chr13:20189352	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Rare genetic deafness Condition: not provided 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA274460	rs_104894395	7 SubmittersRCV000169604 RCV000218259 RCV001382072 RCV005008092
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)	SNV Germline	Chr13:20189451	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A 8 conditions Condition: not provided Inborn genetic diseases GJB2-related disorder 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA274012	rs_104894413	16 SubmittersRCV000169176 RCV000515211 RCV000517231 RCV000624765 RCV004734765 RCV005008089
NM_004004.6(GJB2):c.119C>G (p.Ala40Gly)	SNV Germline	Chr13:20189463	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Single Submitter	CA274135	rs_111033296	2 SubmittersRCV000169292
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys)	SNV Germline	Chr13:20189488	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Rare genetic deafness Condition: not provided not specified 7 conditions Monogenic hearing loss	Criteria Provided Multiple Submitters No Conflicts	CA273921	rs_371024165	14 SubmittersRCV000169075 RCV000614720 RCV000724651 RCV001001448 RCV005003515 RCV005860022
NM_004004.6(GJB2):c.-23G>T	SNV Germline	Chr13:20192783	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 1A Rare genetic deafness Hearing loss Nonsyndromic genetic hearing loss 7 conditions Palmoplantar keratoderma-deafness syndrome Mutilating keratoderma Knuckle pads, deafness AND leukonychia syndrome	Criteria Provided Conflicting Classifications	CA274431	rs_786204734	9 SubmittersRCV000169581 RCV000220459 RCV000678857 RCV001290620 RCV005003519 RCV005361055
NM_004004.6(GJB2):c.24G>A (p.Thr8=)	SNV Germline	Chr13:20189558	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided Nonsyndromic genetic hearing loss Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA274828	rs_533231493	7 SubmittersRCV000172829 RCV000909190 RCV001257045 RCV004975304
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu)	SNV Germline	Chr13:20189202	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Conflicting Classifications	CA241521	rs_111033196	10 SubmittersRCV000175760 RCV000587104 RCV000666278
NM_004004.6(GJB2):c.465T>A (p.Tyr155Ter)	SNV Germline	Chr13:20189117	Pathogenic	Condition: not provided Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Multiple Submitters No Conflicts	CA275075	rs_772264564	4 SubmittersRCV000175761 RCV001276815
NM_004004.6(GJB2):c.120A>C (p.Ala40=)	SNV Germline	Chr13:20189462	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 1A Ichthyosis, hystrix-like, with hearing loss Autosomal dominant nonsyndromic hearing loss 3A Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA241523	rs_561870637	8 SubmittersRCV000263886 RCV000313189 RCV000367888 RCV000586445 RCV000855558
NM_001110219.3(GJB6):c.177A>G (p.Gly59=)	SNV Germline	Chr13:20223304	Conflicting classifications of pathogenicity	Condition: not provided Hidrotic ectodermal dysplasia syndrome Autosomal dominant nonsyndromic hearing loss 3B Hidrotic ectodermal dysplasia syndrome Autosomal recessive nonsyndromic hearing loss 1B Autosomal recessive nonsyndromic hearing loss 1A GJB6-related disorder	Criteria Provided Conflicting Classifications	CA243400	rs_371123633	5 SubmittersRCV000177262 RCV000355903 RCV001087329 RCV004537425
NM_004004.6(GJB2):c.598G>A (p.Gly200Arg)	SNV Germline	Chr13:20188984	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Autosomal dominant nonsyndromic hearing loss 3A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA357244	rs_786204597	5 SubmittersRCV000210857 RCV000411925 RCV001853379
NM_004004.6(GJB2):c.385G>T (p.Glu129Ter)	SNV Germline	Chr13:20189197	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16044153	rs_397516875	4 SubmittersRCV000416724 RCV000760552
NM_004004.6(GJB2):c.583A>G (p.Met195Val)	SNV Germline	Chr13:20188999	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Autosomal dominant nonsyndromic hearing loss 3A Autosomal recessive nonsyndromic hearing loss 1A Nonsyndromic genetic hearing loss Condition: not provided Autosomal dominant nonsyndromic hearing loss 3A 8 conditions GJB2-related disorder	Reviewed By Expert Panel	CA6904233	rs_532203068	13 SubmittersRCV000505510 RCV000490342 RCV001252673 RCV001853385 RCV002283467 RCV002503834 RCV004530262
NM_001110219.3(GJB6):c.301G>A (p.Glu101Lys)	SNV Germline	Chr13:20223180	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 1B Autosomal dominant nonsyndromic hearing loss 3B Autosomal recessive nonsyndromic hearing loss 1B X-linked mixed hearing loss with perilymphatic gusher Hidrotic ectodermal dysplasia syndrome Autosomal dominant nonsyndromic hearing loss 3B Autosomal recessive nonsyndromic hearing loss 1A not specified	Criteria Provided Conflicting Classifications	CA6904473	rs_571454176	3 SubmittersRCV000490500 RCV002478761 RCV003330585
NM_004004.6(GJB2):c.389G>C (p.Gly130Ala)	SNV Germline	Chr13:20189193	Conflicting classifications of pathogenicity	Rare genetic deafness Autosomal dominant nonsyndromic hearing loss 3A Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided Nonsyndromic genetic hearing loss	Criteria Provided Conflicting Classifications	CA10576937	rs_779018464	5 SubmittersRCV000213896 RCV000409464 RCV000411886 RCV001853423 RCV005632323
NM_004004.6(GJB2):c.-22-6T>C	SNV Germline	Chr13:20189609	Conflicting classifications of pathogenicity	not specified Condition: not provided Ichthyosis, hystrix-like, with hearing loss Autosomal recessive nonsyndromic hearing loss 1A Autosomal dominant nonsyndromic hearing loss 3A GJB2-related disorder Nonsyndromic Deafness	Criteria Provided Conflicting Classifications	CA6904347	rs_141962118	14 SubmittersRCV000219387 RCV000590691 RCV001109961 RCV001109963 RCV001109962 RCV004532756 RCV005429233
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr)	SNV Germline	Chr13:20189076	Pathogenic	Condition: not provided 8 conditions Autosomal recessive nonsyndromic hearing loss 1A Rare genetic deafness	Criteria Provided Multiple Submitters No Conflicts	CA6904251	rs_774518779	7 SubmittersRCV000256090 RCV000763322 RCV000587164 RCV004017573
NM_001110219.3(GJB6):c.672A>G (p.Arg224=)	SNV Germline	Chr13:20222809	Conflicting classifications of pathogenicity	Condition: not provided Hidrotic ectodermal dysplasia syndrome Autosomal dominant nonsyndromic hearing loss 3B Hidrotic ectodermal dysplasia syndrome Autosomal recessive nonsyndromic hearing loss 1B Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Conflicting Classifications	CA6904399	rs_756597598	3 SubmittersRCV000270365 RCV001114091 RCV002059176
NM_024009.3(GJB3):c.499G>A (p.Val167Met)	SNV Germline	Chr1:34785261	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant nonsyndromic hearing loss 2B Erythrokeratodermia variabilis et progressiva 1 Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Conflicting Classifications	CA754846	rs_376748531	5 SubmittersRCV000407015 RCV000763901
NM_001110219.3(GJB6):c.60C>T (p.Ile20=)	SNV Germline	Chr13:20223421	Conflicting classifications of pathogenicity	Hidrotic ectodermal dysplasia syndrome Autosomal recessive nonsyndromic hearing loss 1B Autosomal recessive nonsyndromic hearing loss 1A Autosomal dominant nonsyndromic hearing loss 3B Hidrotic ectodermal dysplasia syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA6904520	rs_778513540	3 SubmittersRCV000266682 RCV000890545 RCV003409482
NM_004004.6(GJB2):c.*1033G>A	SNV Germline	Chr13:20187868	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 1A Ichthyosis, hystrix-like, with hearing loss Autosomal dominant nonsyndromic hearing loss 3A	Criteria Provided Conflicting Classifications	CA10639102	rs_185790172	1 SubmittersRCV000287144 RCV000281101 RCV000373371
NM_004004.6(GJB2):c.*1016A>G	SNV Germline	Chr13:20187885	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 3A Ichthyosis, hystrix-like, with hearing loss Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Conflicting Classifications	CA10639103	rs_537683957	1 SubmittersRCV000306675 RCV000404968 RCV000404244
NM_004004.6(GJB2):c.*786G>A	SNV Germline	Chr13:20188115	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 1A Ichthyosis, hystrix-like, with hearing loss Autosomal dominant nonsyndromic hearing loss 3A	Criteria Provided Conflicting Classifications	CA10642989	rs_187158699	1 SubmittersRCV000303353 RCV000347805 RCV000393675
NM_004004.6(GJB2):c.241C>G (p.Leu81Val)	SNV Germline	Chr13:20189341	Conflicting classifications of pathogenicity	Ichthyosis, hystrix-like, with hearing loss Autosomal dominant nonsyndromic hearing loss 3A Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided	Criteria Provided Conflicting Classifications	CA6904298	rs_145216882	3 SubmittersRCV000280037 RCV000340839 RCV000671813 RCV005090454
NM_001110219.3(GJB6):c.405G>A (p.Thr135=)	SNV Germline	Chr13:20223076	Conflicting classifications of pathogenicity	Hidrotic ectodermal dysplasia syndrome not specified Condition: not provided Autosomal recessive nonsyndromic hearing loss 1B Autosomal recessive nonsyndromic hearing loss 1A Autosomal dominant nonsyndromic hearing loss 3B Hidrotic ectodermal dysplasia syndrome GJB6-related disorder	Criteria Provided Conflicting Classifications	CA6904444	rs_145438428	5 SubmittersRCV000392327 RCV000612322 RCV001546167 RCV002056360 RCV004537765
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys)	SNV Germline	Chr13:20189143	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Autosomal dominant nonsyndromic hearing loss 3A not specified Condition: not provided Rare genetic deafness Nonsyndromic genetic hearing loss GJB2-related disorder 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA6904269	rs_767178508	13 SubmittersRCV000409580 RCV000411084 RCV000506862 RCV000488996 RCV000825565 RCV001257565 RCV004735500 RCV005010301
NM_004004.6(GJB2):c.238C>T (p.Gln80Ter)	SNV Germline	Chr13:20189344	Pathogenic/Likely pathogenic	Autosomal dominant nonsyndromic hearing loss 3A Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided Nonsyndromic genetic hearing loss 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA6904300	rs_199883710	5 SubmittersRCV000410120 RCV000412105 RCV001054602 RCV004767246 RCV005010298
NM_004004.6(GJB2):c.59T>C (p.Ile20Thr)	SNV Germline	Chr13:20189523	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Autosomal dominant nonsyndromic hearing loss 3A Hearing loss Nonsyndromic genetic hearing loss nonsyndromic sensorineural hearing loss Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16041595	rs_1057517519	7 SubmittersRCV000410601 RCV000411693 RCV000678863 RCV001257156 RCV001374656 RCV001234615
NM_004004.6(GJB2):c.2T>C (p.Met1Thr)	SNV Germline	Chr13:20189580	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Autosomal dominant nonsyndromic hearing loss 3A Condition: not provided Nonsyndromic genetic hearing loss GJB2-related disorder 7 conditions	Reviewed By Expert Panel	CA6904336	rs_371086981	8 SubmittersRCV000409687 RCV000410366 RCV000991847 RCV001171533 RCV004530500 RCV005010302
NM_004004.6(GJB2):c.146C>T (p.Ala49Val)	SNV Germline	Chr13:20189436	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided	Criteria Provided Conflicting Classifications	CA16042821	rs_1057517976	5 SubmittersRCV000412967 RCV000666314 RCV005090668
NM_004004.6(GJB2):c.-22-2A>C	SNV Germline	Chr13:20189605	Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 1A not specified Condition: not provided Nonsyndromic genetic hearing loss Ichthyosis, hystrix-like, with hearing loss Autosomal dominant nonsyndromic hearing loss 3A GJB2-related disorder Clear cell carcinoma of kidney Palmoplantar keratoderma-deafness syndrome Mutilating keratoderma Knuckle pads, deafness AND leukonychia syndrome 7 conditions Nonpapillary renal cell carcinoma Cervical cancer Sarcoma Malignant tumor of urinary bladder Melanoma Hepatocellular carcinoma	Reviewed By Expert Panel	CA6904346	rs_201895089	22 SubmittersRCV000416425 RCV000507029 RCV000579320 RCV000710316 RCV001109959 RCV001109960 RCV004530519 RCV005900710 RCV005355708 RCV005004150 RCV005900708 RCV005900709 RCV005900711 RCV005900706 RCV005900712 RCV005900707
NM_004004.6(GJB2):c.563A>G (p.Lys188Arg)	SNV Germline	Chr13:20189019	Likely pathogenic	Condition: not provided Nonsyndromic genetic hearing loss Autosomal recessive nonsyndromic hearing loss 1A	Reviewed By Expert Panel	CA387460893	rs_1131691709	4 SubmittersRCV000493772 RCV001004776 RCV005431707
NM_004004.6(GJB2):c.585G>A (p.Met195Ile)	SNV Germline	Chr13:20188997	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA387460847	rs_570552952	4 SubmittersRCV000505530 RCV001857234 RCV005431714
NM_004004.6(GJB2):c.584T>C (p.Met195Thr)	SNV Germline	Chr13:20188998	Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided not specified 7 conditions Nonsyndromic genetic hearing loss	Reviewed By Expert Panel	CA387460849	rs_1378679640	7 SubmittersRCV000505521 RCV000731139 RCV003387862 RCV005004202 RCV004595511
NM_004004.6(GJB2):c.527A>G (p.Asn176Ser)	SNV Germline	Chr13:20189055	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided	Criteria Provided Conflicting Classifications	CA387460966	rs_1555341840	2 SubmittersRCV000505509 RCV003574781
NM_004004.6(GJB2):c.60T>G (p.Ile20Met)	SNV Germline	Chr13:20189522	Pathogenic/Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided 7 conditions Nonsyndromic genetic hearing loss	Criteria Provided Multiple Submitters No Conflicts	CA6904326	rs_749693224	6 SubmittersRCV000505534 RCV001857232 RCV005004201 RCV005632433
NM_004004.6(GJB2):c.187G>T (p.Val63Leu)	SNV Germline	Chr13:20189395	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided Autosomal dominant nonsyndromic hearing loss 3A	Criteria Provided Conflicting Classifications	CA6904306	rs_370696868	5 SubmittersRCV000668102 RCV001857901 RCV003335444
NM_004004.6(GJB2):c.110T>C (p.Val37Ala)	SNV Germline	Chr13:20189472	Likely pathogenic	Condition: not provided Rare genetic deafness Autosomal recessive nonsyndromic hearing loss 1A Nonsyndromic genetic hearing loss 7 conditions	Reviewed By Expert Panel	CA6904317	rs_141774369	8 SubmittersRCV000520583 RCV000826112 RCV000855645 RCV001252676 RCV005010478
NM_004004.6(GJB2):c.284T>C (p.Val95Ala)	SNV Germline	Chr13:20189298	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive nonsyndromic hearing loss 1A not specified	Criteria Provided Conflicting Classifications	CA387461474	rs_1250849257	4 SubmittersRCV000589231 RCV001834858 RCV005431786
NM_001110219.3(GJB6):c.111G>A (p.Val37=)	SNV Germline	Chr13:20223370	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive nonsyndromic hearing loss 1B Autosomal recessive nonsyndromic hearing loss 1A Autosomal dominant nonsyndromic hearing loss 3B Hidrotic ectodermal dysplasia syndrome GJB6-related disorder	Criteria Provided Conflicting Classifications	CA6904508	rs_543659673	3 SubmittersRCV000593231 RCV002062028 RCV004543340
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu)	SNV Germline	Chr13:20189487	Pathogenic/Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Hearing loss Condition: not provided Nonsyndromic genetic hearing loss 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA6904322	rs_111033190	9 SubmittersRCV000597784 RCV000678865 RCV000727027 RCV002232559 RCV002476305
NM_004004.6(GJB2):c.533T>C (p.Val178Ala)	SNV Germline	Chr13:20189049	Pathogenic/Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided Nonsyndromic genetic hearing loss	Criteria Provided Multiple Submitters No Conflicts	CA6904243	rs_568612627	5 SubmittersRCV000665870 RCV001218684 RCV001779042
NM_004004.6(GJB2):c.514T>A (p.Trp172Arg)	SNV Germline	Chr13:20189068	Pathogenic/Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA6904247	rs_770330002	4 SubmittersRCV000673989 RCV001861830 RCV005004353
NM_004004.6(GJB2):c.1A>T (p.Met1Leu)	SNV Germline	Chr13:20189581	Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided Nonsyndromic genetic hearing loss	Reviewed By Expert Panel	CA387462311	rs_111033293	3 SubmittersRCV000665536 RCV003660822 RCV003991034
NM_004004.6(GJB2):c.133G>A (p.Gly45Arg)	SNV Germline	Chr13:20189449	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 1A not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA387461860	rs_1326514987	4 SubmittersRCV000672597 RCV000825343 RCV001861812
NM_004004.6(GJB2):c.415A>T (p.Ser139Cys)	SNV Germline	Chr13:20189167	Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided	Criteria Provided Single Submitter	CA387461195	rs_1555341907	2 SubmittersRCV000668607 RCV002531202
NM_004004.6(GJB2):c.257C>T (p.Thr86Met)	SNV Germline	Chr13:20189325	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided	Criteria Provided Conflicting Classifications	CA387461528	rs_1291519904	3 SubmittersRCV000668763 RCV005255616
NM_004004.6(GJB2):c.72G>A (p.Trp24Ter)	SNV Germline	Chr13:20189510	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided	Criteria Provided Single Submitter	CA387462076	rs_769486081	2 SubmittersRCV000670427 RCV002531252
NM_004004.6(GJB2):c.35G>A (p.Gly12Asp)	SNV Germline	Chr13:20189547	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 1A not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA6904330	rs_1801002	4 SubmittersRCV000666230 RCV001805787 RCV001662735
NM_004004.6(GJB2):c.2T>G (p.Met1Arg)	SNV Germline	Chr13:20189580	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided Nonsyndromic genetic hearing loss 7 conditions	Reviewed By Expert Panel	CA387462304	rs_371086981	4 SubmittersRCV000667085 RCV003688870 RCV003991035 RCV005010654
NM_004004.6(GJB2):c.-22-2A>G	SNV Germline	Chr13:20189605	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 1A not specified 7 conditions	Criteria Provided Conflicting Classifications	CA246461181	rs_201895089	3 SubmittersRCV000667082 RCV004689836 RCV005010653
NM_004004.6(GJB2):c.535G>C (p.Asp179His)	SNV Germline	Chr13:20189047	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided 7 conditions not specified	Criteria Provided Conflicting Classifications	CA387460951	rs_28931595	4 SubmittersRCV000665713 RCV001855444 RCV005010650 RCV005901441
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser)	SNV Germline	Chr13:20189488	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A 8 conditions Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA387461995	rs_371024165	4 SubmittersRCV000664869 RCV000762905 RCV001861739
NM_004004.6(GJB2):c.550C>T (p.Arg184Trp)	SNV Germline	Chr13:20189032	Pathogenic/Likely pathogenic	Hearing loss Autosomal dominant nonsyndromic hearing loss 3A Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided Mutilating keratoderma 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA246459909	rs_998045226	9 SubmittersRCV000678887 RCV001078465 RCV001089546 RCV001390263 RCV002249403 RCV005004358
NM_004004.6(GJB2):c.474C>G (p.Tyr158Ter)	SNV Germline	Chr13:20189108	Pathogenic	Hearing loss Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Single Submitter	CA387461068	rs_375759781	2 SubmittersRCV000678886 RCV002287436
NM_004004.6(GJB2):c.516G>C (p.Trp172Cys)	SNV Germline	Chr13:20189066	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Nonsyndromic genetic hearing loss	Reviewed By Expert Panel	CA387460990	rs_1302739538	2 SubmittersRCV000721943 RCV001004778
NM_004004.6(GJB2):c.244A>G (p.Ile82Val)	SNV Germline	Chr13:20189338	Pathogenic	Autosomal dominant keratitis-ichthyosis-hearing loss syndrome Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Single Submitter	CA387461552	rs_1566528711	2 SubmittersRCV000735855 RCV005860137
NM_024009.3(GJB3):c.8G>A (p.Trp3Ter)	SNV Germline	Chr1:34784770	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A	No Assertion Criteria Provided	CA339310198	rs_1557659237	1 SubmittersRCV000770824
NM_004004.6(GJB2):c.257C>G (p.Thr86Arg)	SNV Germline	Chr13:20189325	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A nonsyndromic sensorineural hearing loss Condition: not provided Nonsyndromic genetic hearing loss 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA387461527	rs_1291519904	8 SubmittersRCV000778387 RCV001374648 RCV001784383 RCV003317365 RCV005012295
NM_004004.6(GJB2):c.195C>G (p.Tyr65Ter)	SNV Germline	Chr13:20189387	Pathogenic/Likely pathogenic	GJB2-related disorder Condition: not provided Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Multiple Submitters No Conflicts	CA387461648	rs_763572195	3 SubmittersRCV000778388 RCV001231552 RCV001835954
NM_004004.6(GJB2):c.37G>A (p.Val13Met)	SNV Germline	Chr13:20189545	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 1A Ichthyosis, hystrix-like, with hearing loss Autosomal dominant nonsyndromic hearing loss 3A not specified	Criteria Provided Conflicting Classifications	CA6904329	rs_768130937	4 SubmittersRCV000779131 RCV001112644 RCV001112645 RCV001193185
NM_004004.6(GJB2):c.510C>T (p.Asn170=)	SNV Germline	Chr13:20189072	Conflicting classifications of pathogenicity	not specified Ichthyosis, hystrix-like, with hearing loss Autosomal dominant nonsyndromic hearing loss 3A Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided GJB2-related disorder	Criteria Provided Conflicting Classifications	CA6904249	rs_763068053	6 SubmittersRCV000781417 RCV001113810 RCV001113811 RCV001113812 RCV001436900 RCV004540098
NM_004004.6(GJB2):c.299A>T (p.His100Leu)	SNV Germline	Chr13:20189283	Pathogenic/Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided Nonsyndromic genetic hearing loss	Criteria Provided Multiple Submitters No Conflicts	CA387461446	rs_1422767764	4 SubmittersRCV000781416 RCV001873191 RCV004017739
NM_004004.6(GJB2):c.158G>T (p.Cys53Phe)	SNV Unknown	Chr13:20189424	Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Single Submitter	CA387461760	rs_587783645	1 SubmittersRCV000785599
NM_001110219.3(GJB6):c.30C>T (p.Ile10=)	SNV Germline	Chr13:20223451	Conflicting classifications of pathogenicity	Condition: not provided Hidrotic ectodermal dysplasia syndrome Hidrotic ectodermal dysplasia syndrome Autosomal dominant nonsyndromic hearing loss 3B Autosomal recessive nonsyndromic hearing loss 1A Autosomal recessive nonsyndromic hearing loss 1B	Criteria Provided Conflicting Classifications	CA6904524	rs_377181573	3 SubmittersRCV000897879 RCV001112812 RCV002065645
NM_004004.6(GJB2):c.517C>T (p.Pro173Ser)	SNV Germline	Chr13:20189065	Likely pathogenic	Condition: not provided Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Multiple Submitters No Conflicts	CA387460986	rs_1959056736	3 SubmittersRCV001044753 RCV004789378
NM_004004.6(GJB2):c.196G>A (p.Asp66Asn)	SNV Germline	Chr13:20189386	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 3A Autosomal recessive nonsyndromic hearing loss 1A Ichthyosis, hystrix-like, with hearing loss Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA387461646	rs_104894403	3 SubmittersRCV001109877 RCV001109875 RCV001109876 RCV001856469 RCV003331045
NM_004004.6(GJB2):c.174A>G (p.Pro58=)	SNV Germline	Chr13:20189408	Conflicting classifications of pathogenicity	Ichthyosis, hystrix-like, with hearing loss Autosomal recessive nonsyndromic hearing loss 1A Autosomal dominant nonsyndromic hearing loss 3A Condition: not provided	Criteria Provided Conflicting Classifications	CA6904309	rs_778922005	2 SubmittersRCV001109879 RCV001109878 RCV001109880 RCV001411877
NM_001110219.3(GJB6):c.212T>C (p.Val71Ala)	SNV Germline	Chr13:20223269	Conflicting classifications of pathogenicity	Hidrotic ectodermal dysplasia syndrome Condition: not provided Autosomal dominant nonsyndromic hearing loss 3B Autosomal recessive nonsyndromic hearing loss 1A Hidrotic ectodermal dysplasia syndrome Autosomal recessive nonsyndromic hearing loss 1B	Criteria Provided Conflicting Classifications	CA6904492	rs_200172266	5 SubmittersRCV001110826 RCV001563386 RCV001862881
NM_004004.6(GJB2):c.40A>G (p.Asn14Asp)	SNV Germline	Chr13:20189542	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Multiple Submitters No Conflicts	CA387462206	rs_1476034902	3 SubmittersRCV001204537 RCV004768913
NM_004004.6(GJB2):c.505T>C (p.Cys169Arg)	SNV Germline	Chr13:20189077	Likely pathogenic	nonsyndromic sensorineural hearing loss Condition: not provided Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Multiple Submitters No Conflicts	CA6904253	rs_760489970	3 SubmittersRCV001374649 RCV003558824 RCV003232335
NM_004004.6(GJB2):c.238C>A (p.Gln80Lys)	SNV Germline	Chr13:20189344	Likely pathogenic	Condition: not provided Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Multiple Submitters No Conflicts	CA387461563	rs_199883710	2 SubmittersRCV001379119 RCV005438075
NM_004004.6(GJB2):c.409A>C (p.Thr137Pro)	SNV Germline	Chr13:20189173	Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 1A	No Assertion Criteria Provided	CA387461208	rs_2137307658	1 SubmittersRCV001822874
NM_004004.6(GJB2):c.157T>A (p.Cys53Ser)	SNV Germline	Chr13:20189425	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A	No Assertion Criteria Provided	CA387461767	rs_1555341986	1 SubmittersRCV002051744
NM_004004.6(GJB2):c.232G>A (p.Ala78Thr)	SNV Germline	Chr13:20189350	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided	Criteria Provided Single Submitter	CA387461574	rs_1959060696	2 SubmittersRCV002051745 RCV003558849
NM_004004.6(GJB2):c.126G>T (p.Glu42Asp)	SNV Germline	Chr13:20189456	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA6904314	rs_535635403	3 SubmittersRCV001810543 RCV002541486 RCV003235601
NM_001110219.3(GJB6):c.223C>T (p.Arg75Trp)	SNV Germline	Chr13:20223258	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 1A Autosomal dominant nonsyndromic hearing loss 3B Autosomal recessive nonsyndromic hearing loss 1B Hidrotic ectodermal dysplasia syndrome Autosomal dominant nonsyndromic hearing loss 3B not specified	Criteria Provided Conflicting Classifications	CA387468573	rs_2137333664	3 SubmittersRCV002007632 RCV004571869 RCV006269536
NM_024009.3(GJB3):c.667C>A (p.Pro223Thr)	SNV Germline	Chr1:34785429	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive nonsyndromic hearing loss 1A GJB3-related disorder not specified	Criteria Provided Conflicting Classifications	CA754881	rs_373815705	5 SubmittersRCV001888944 RCV004584932 RCV004752087 RCV004801077
NM_004004.6(GJB2):c.464A>G (p.Tyr155Cys)	SNV Germline	Chr13:20189118	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Conflicting Classifications	CA6904263	rs_776335807	3 SubmittersRCV002254101 RCV004785544
NM_004004.6(GJB2):c.399G>A (p.Trp133Ter)	SNV Germline	Chr13:20189183	Pathogenic	Condition: not provided Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Multiple Submitters No Conflicts	CA246460171	rs_777225786	2 SubmittersRCV003560933 RCV004577374
NM_004004.6(GJB2):c.456C>G (p.Tyr152Ter)	SNV Germline	Chr13:20189126	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Multiple Submitters No Conflicts	CA387461108	rs_111033420	3 SubmittersRCV003062562 RCV004796760
NM_004004.6(GJB2):c.195C>A (p.Tyr65Ter)	SNV Germline	Chr13:20189387	Pathogenic	Condition: not provided Autosomal recessive nonsyndromic hearing loss 1A GJB2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA387461649	rs_763572195	3 SubmittersRCV003058405 RCV005869992 RCV006270568
NM_004004.6(GJB2):c.388G>C (p.Gly130Arg)	SNV Germline	Chr13:20189194	Likely pathogenic	Autosomal dominant nonsyndromic hearing loss 3A Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV004788498 RCV005052910
NM_004004.6(GJB2):c.614T>C (p.Leu205Pro)	SNV Germline	Chr13:20188968	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005003835 RCV005241066
NM_004004.6(GJB2):c.236T>A (p.Leu79Gln)	SNV Germline	Chr13:20189346	Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Single Submitter			1 SubmittersRCV005053065
NM_004004.6(GJB2):c.420C>G (p.Ile140Met)	SNV Germline	Chr13:20189162	Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Single Submitter			1 SubmittersRCV005053066
NM_004004.6(GJB2):c.626A>C (p.Glu209Ala)	SNV Germline	Chr13:20188956	Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Single Submitter			1 SubmittersRCV005053069
NM_004004.6(GJB2):c.72G>C (p.Trp24Cys)	SNV Germline	Chr13:20189510	Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Single Submitter			1 SubmittersRCV005053070
NM_004004.6(GJB2):c.8G>A (p.Trp3Ter)	SNV Germline	Chr13:20189574	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Single Submitter			1 SubmittersRCV005053071
NM_004004.6(GJB2):c.113T>A (p.Val38Glu)	SNV Germline	Chr13:20189469	Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Single Submitter			1 SubmittersRCV005431017
NM_004004.6(GJB2):c.346A>T (p.Lys116Ter)	SNV Germline	Chr13:20189236	Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Single Submitter			1 SubmittersRCV005431018
NM_004004.6(GJB2):c.279G>C (p.Met93Ile)	SNV Germline	Chr13:20189303	Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Single Submitter			1 SubmittersRCV006270153
NM_001110219.3(GJB6):c.31G>C (p.Gly11Arg)	SNV Germline	Chr13:20223450	Pathogenic	Autosomal dominant nonsyndromic hearing loss 3B Hidrotic ectodermal dysplasia syndrome Autosomal recessive nonsyndromic hearing loss 1B Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Single Submitter			1 SubmittersRCV006598413

NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg)

SNV
Germline

Chr13:20223450

Pathogenic

Hidrotic ectodermal dysplasia syndrome
Condition: not provided
Hidrotic ectodermal dysplasia syndrome
Autosomal dominant nonsyndromic hearing loss 3B
Autosomal recessive nonsyndromic hearing loss 1A
Autosomal recessive nonsyndromic hearing loss 1B
GJB6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA253526

rs_104894415

11 SubmittersRCV000005882 RCV000255581 RCV000645727 RCV003335016

NM_001110219.3(GJB6):c.263C>T (p.Ala88Val)

SNV
Germline

Chr13:20223218

Pathogenic

Hidrotic ectodermal dysplasia syndrome
Hidrotic ectodermal dysplasia syndrome
Autosomal dominant nonsyndromic hearing loss 3B
Autosomal recessive nonsyndromic hearing loss 1A
Autosomal recessive nonsyndromic hearing loss 1B
Hidrotic ectodermal dysplasia syndrome
X-linked mixed hearing loss with perilymphatic gusher
Autosomal dominant nonsyndromic hearing loss 3B
Autosomal recessive nonsyndromic hearing loss 1A
Autosomal recessive nonsyndromic hearing loss 1B

Criteria Provided
Multiple Submitters
No Conflicts

CA253528

rs_28937872

4 SubmittersRCV000005883 RCV000798432 RCV002504751

NM_024009.3(GJB3):c.580G>A (p.Ala194Thr)

SNV
Germline

Chr1:34785342

Conflicting classifications of pathogenicity

Deafness, digenic, GJB2/GJB3
Erythrokeratodermia variabilis et progressiva 1
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 1A
Autosomal dominant nonsyndromic hearing loss 2B
Erythrokeratodermia variabilis et progressiva 1

Criteria Provided
Conflicting Classifications

CA118313

rs_117385606

8 SubmittersRCV000006866 RCV000404541 RCV001510379 RCV002504756

NM_004004.6(GJB2):c.101T>C (p.Met34Thr)

SNV
Germline

Chr13:20189481

Pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided
Nonsyndromic genetic hearing loss
Autosomal dominant nonsyndromic hearing loss 3A
Hearing loss
Autosomal recessive nonsyndromic hearing loss 1B
Autosomal recessive nonsyndromic hearing loss 1A
Rare genetic deafness
Nonsyndromic Deafness
7 conditions
Inborn genetic diseases
Hearing impairment
See cases
Autosomal dominant nonsyndromic hearing loss 3A
Autosomal recessive nonsyndromic hearing loss 1A
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
GJB2-related disorder
Monogenic hearing loss

Reviewed By Expert Panel

CA172206

rs_35887622

56 SubmittersRCV000018523 RCV000080364 RCV000211758 RCV000487479 RCV000678866 RCV001004397 RCV000844701 RCV001270137 RCV001027827 RCV001266565 RCV001375142 RCV002251910 RCV004700251 RCV004783726 RCV004724749 RCV006449938

NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)

SNV
Germline

Chr13:20189351

Pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Rare genetic deafness
Condition: not provided
8 conditions
Autosomal recessive nonsyndromic hearing loss 1B
Autosomal recessive nonsyndromic hearing loss 1A
Hearing loss, autosomal recessive
Monogenic hearing loss
Knuckle pads, deafness AND leukonychia syndrome
7 conditions
Sensorineural hearing loss disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA341437

rs_80338944

24 SubmittersRCV000018524 RCV000211767 RCV000711349 RCV000762904 RCV001004393 RCV001291332 RCV005862503 RCV005229816 RCV005007866 RCV005420505

NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)

SNV
Germline

Chr13:20189511

Pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Hearing impairment
Nonsyndromic genetic hearing loss
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 3A
Hearing loss
Autosomal recessive nonsyndromic hearing loss 1B
Autosomal recessive nonsyndromic hearing loss 1A
Rare genetic deafness
Ichthyosis, hystrix-like, with hearing loss
Hearing loss, autosomal recessive
Mutilating keratoderma
Palmoplantar keratoderma-deafness syndrome
Hereditary palmoplantar keratoderma
7 conditions
GJB2-related disorder
Knuckle pads, deafness AND leukonychia syndrome
Monogenic hearing loss
Sensorineural hearing loss disorder

Reviewed By Expert Panel

CA172240

rs_104894396

48 SubmittersRCV000018525 RCV000146028 RCV000211778 RCV000255370 RCV000411010 RCV000678864 RCV001004398 RCV000844631 RCV001112641 RCV001291329 RCV002247354 RCV003388568 RCV004798735 RCV005003380 RCV004734522 RCV005229817 RCV006455049 RCV005420506

NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)

SNV
Germline

Chr13:20189353

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided
Rare genetic deafness
Autosomal dominant nonsyndromic hearing loss 3A
Autosomal recessive nonsyndromic hearing loss 1B
Autosomal recessive nonsyndromic hearing loss 1A
Nonsyndromic genetic hearing loss
Hearing impairment
GJB2-related disorder
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA222246

rs_104894397

22 SubmittersRCV000018526 RCV000080368 RCV000211765 RCV000412297 RCV001004394 RCV001257039 RCV001526518 RCV004532383 RCV005003381

NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)

SNV
Germline

Chr13:20189443

Pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided
Hearing impairment
Rare genetic deafness
Hearing loss
Nonsyndromic genetic hearing loss
GJB2-related disorder
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA172213

rs_104894398

26 SubmittersRCV000018529 RCV000080366 RCV000146008 RCV000211760 RCV000678867 RCV001257036 RCV004734523 RCV005003382

NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)

SNV
Germline

Chr13:20189031

Pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Rare genetic deafness
Hearing loss
Condition: not provided
8 conditions
Autosomal dominant nonsyndromic hearing loss 3A
Nonsyndromic genetic hearing loss
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA341438

rs_80338950

19 SubmittersRCV000018531 RCV000211781 RCV000678888 RCV000657913 RCV000763321 RCV001112462 RCV001257160 RCV005007867

NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)

SNV
Germline

Chr13:20189155

Pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Hearing impairment
Rare genetic deafness
Condition: not provided
Hearing loss
7 conditions
Autosomal dominant nonsyndromic hearing loss 3A
Nonsyndromic genetic hearing loss
GJB2-related disorder
Palmoplantar keratoderma-deafness syndrome
Knuckle pads, deafness AND leukonychia syndrome
Mutilating keratoderma

Criteria Provided
Multiple Submitters
No Conflicts

CA172234

rs_80338948

29 SubmittersRCV000018533 RCV000146023 RCV000211779 RCV000255157 RCV000678885 RCV001027826 RCV001196233 RCV001257564 RCV004532385 RCV005357139

NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)

SNV
Germline

Chr13:20189313

Pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Hearing impairment
Condition: not provided
Rare genetic deafness
Autosomal dominant nonsyndromic hearing loss 3A
8 conditions
Hearing loss
Autosomal recessive nonsyndromic hearing loss 1B
Autosomal recessive nonsyndromic hearing loss 1A
Nonsyndromic genetic hearing loss
Ichthyosis, hystrix-like, with hearing loss
See cases
Deafness
7 conditions
GJB2-related disorder
Mutilating keratoderma
Knuckle pads, deafness AND leukonychia syndrome
Palmoplantar keratoderma-deafness syndrome
Monogenic hearing loss
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA172219

rs_80338945

47 SubmittersRCV000018541 RCV000146013 RCV000080369 RCV000211772 RCV000409625 RCV000515450 RCV000678875 RCV001004391 RCV001257157 RCV001109788 RCV002227041 RCV001775068 RCV003224102 RCV004734524 RCV005364882 RCV006449939 RCV006362023

NM_004004.6(GJB2):c.428G>A (p.Arg143Gln)

SNV
Germline

Chr13:20189154

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Autosomal dominant nonsyndromic hearing loss 3A
Condition: not provided
7 conditions
Nonsyndromic genetic hearing loss

Criteria Provided
Multiple Submitters
No Conflicts

CA257677

rs_104894401

11 SubmittersRCV000018543 RCV000018542 RCV000484997 RCV005007869 RCV006262323

NM_004004.6(GJB2):c.109G>A (p.Val37Ile)

SNV
Germline

Chr13:20189473

Pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided
Hearing impairment
Nonsyndromic genetic hearing loss
Autosomal dominant nonsyndromic hearing loss 3A
Autosomal recessive nonsyndromic hearing loss 1B
Autosomal recessive nonsyndromic hearing loss 1A
Nonsyndromic Deafness
Inborn genetic diseases
GJB2-related disorder
7 conditions
Hearing loss, autosomal recessive
Mutilating keratoderma
Knuckle pads, deafness AND leukonychia syndrome
Palmoplantar keratoderma-deafness syndrome

Reviewed By Expert Panel

CA172210

rs_72474224

58 SubmittersRCV000018550 RCV000080365 RCV000146005 RCV000211759 RCV001002768 RCV001004396 RCV001270106 RCV002514109 RCV003335045 RCV004795923 RCV004699117 RCV005357142

NM_004004.6(GJB2):c.224G>A (p.Arg75Gln)

SNV
Germline

Chr13:20189358

Pathogenic

Palmoplantar keratoderma-deafness syndrome
Autosomal dominant nonsyndromic hearing loss 3A
Rare genetic deafness
Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided
Hearing loss, autosomal recessive
Nonsyndromic genetic hearing loss
Hereditary palmoplantar keratoderma
Nonsyndromic Deafness
Hearing impairment

Criteria Provided
Multiple Submitters
No Conflicts

CA127030

rs_28931593

10 SubmittersRCV000018554 RCV000018555 RCV000211764 RCV000210858 RCV000254728 RCV001291331 RCV001257038 RCV004771802 RCV005624697

NM_004004.6(GJB2):c.-23+1G>A

SNV
Germline

Chr13:20192782

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Hearing impairment
Rare genetic deafness
Condition: not provided
Hearing loss
Autosomal recessive nonsyndromic hearing loss 1B
Autosomal recessive nonsyndromic hearing loss 1A
Nonsyndromic genetic hearing loss
Hearing loss, autosomal recessive
Ear malformation
Autosomal dominant nonsyndromic hearing loss 3A
Autosomal recessive nonsyndromic hearing loss 104
GJB2-related disorder
Mutilating keratoderma
Palmoplantar keratoderma-deafness syndrome
Knuckle pads, deafness AND leukonychia syndrome
Hereditary palmoplantar keratoderma
7 conditions
Monogenic hearing loss

Criteria Provided
Multiple Submitters
No Conflicts

CA172205

rs_80338940

42 SubmittersRCV000018557 RCV000146002 RCV000211766 RCV000418755 RCV000678858 RCV001004401 RCV001257033 RCV001291328 RCV001813995 RCV003147300 RCV003458323 RCV004532386 RCV005364883 RCV004798737 RCV005003385 RCV006454635

NM_004004.6(GJB2):c.250G>C (p.Val84Leu)

SNV
Germline

Chr13:20189332

Pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Hearing impairment
Rare genetic deafness
Condition: not provided
Nonsyndromic genetic hearing loss
8 conditions
GJB2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA172218

rs_104894409

17 SubmittersRCV000018560 RCV000146012 RCV000211770 RCV001041795 RCV001257042 RCV002504805 RCV003335046

NM_004004.6(GJB2):c.134G>A (p.Gly45Glu)

SNV
Germline

Chr13:20189448

Pathogenic

Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA127033

rs_72561723

8 SubmittersRCV000018561 RCV000022510 RCV001851914 RCV005007870

NC_000013.11:g.20193020G>A

SNV
Germline

Chr13:20193020

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 1A

No Assertion Criteria Provided

CA10575532

rs_886037626

2 SubmittersRCV000018563

NM_004004.6(GJB2):c.250G>A (p.Val84Met)

SNV
Germline

Chr13:20189332

Pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided
Rare genetic deafness
Autosomal dominant nonsyndromic hearing loss 3A
Progressive sensorineural hearing impairment
GJB2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA257683

rs_104894409

10 SubmittersRCV000018564 RCV000254760 RCV000211769 RCV000410225 RCV000626853 RCV004532387

NM_004004.6(GJB2):c.35G>T (p.Gly12Val)

SNV
Germline

Chr13:20189547

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Hearing impairment
Rare genetic deafness
Autosomal dominant nonsyndromic hearing loss 3A
Condition: not provided
Nonsyndromic genetic hearing loss
GJB2-related disorder
Mutilating keratoderma
Knuckle pads, deafness AND leukonychia syndrome
Palmoplantar keratoderma-deafness syndrome
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA172228

rs_1801002

19 SubmittersRCV000020570 RCV000146020 RCV000211720 RCV000412324 RCV000711351 RCV001257034 RCV004734527 RCV005357157 RCV005003401

NM_004004.6(GJB2):c.487A>G (p.Met163Val)

SNV
Germline

Chr13:20189095

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 1A
not specified
Condition: not provided
Nonsyndromic genetic hearing loss
Hearing impairment
Autosomal dominant nonsyndromic hearing loss 3A
8 conditions
7 conditions

Criteria Provided
Conflicting Classifications

CA134981

rs_80338949

14 SubmittersRCV000020573 RCV000037860 RCV001092709 RCV001257048 RCV001375209 RCV001787816 RCV005400418 RCV005007887

NM_004004.6(GJB2):c.56G>C (p.Ser19Thr)

SNV
Germline

Chr13:20189526

Pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Rare genetic deafness
Condition: not provided
Hearing loss
Nonsyndromic genetic hearing loss

Reviewed By Expert Panel

CA342005

rs_80338941

10 SubmittersRCV000020575 RCV000602210 RCV000757333 RCV000678862 RCV001257035

NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)

SNV
Germline

Chr13:20189031

Pathogenic

Autosomal dominant nonsyndromic hearing loss 3A
Hearing impairment
Condition: not provided
Hearing loss
Rare genetic deafness
not specified
Nonsyndromic genetic hearing loss
Autosomal recessive nonsyndromic hearing loss 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA172235

rs_80338950

19 SubmittersRCV000022511 RCV000146024 RCV000480903 RCV000678889 RCV000826191 RCV001001450 RCV002281716 RCV003236759

NM_004004.6(GJB2):c.*1C>T

SNV
Germline

Chr13:20188900

Conflicting classifications of pathogenicity

not specified
Ichthyosis, hystrix-like, with hearing loss
Autosomal dominant nonsyndromic hearing loss 3A
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 1A
Nonsyndromic genetic hearing loss
GJB2-related disorder

Criteria Provided
Conflicting Classifications

CA134940

rs_111033327

12 SubmittersRCV000037802 RCV000296648 RCV000344717 RCV000586188 RCV000674792 RCV001257161 RCV004734551

NM_004004.6(GJB2):c.-6T>A

SNV
Germline

Chr13:20189587

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 1A
Autosomal dominant nonsyndromic hearing loss 3A
Ichthyosis, hystrix-like, with hearing loss
Condition: not provided
nonsyndromic sensorineural hearing loss
GJB2-related disorder

Criteria Provided
Conflicting Classifications

CA134946

rs_148136545

10 SubmittersRCV000037809 RCV000311687 RCV000336963 RCV000351365 RCV000586780 RCV001374657 RCV004534803

NM_004004.6(GJB2):c.11G>A (p.Gly4Asp)

SNV
Germline

Chr13:20189571

Conflicting classifications of pathogenicity

not specified
Ichthyosis, hystrix-like, with hearing loss
Autosomal recessive nonsyndromic hearing loss 1A
Autosomal dominant nonsyndromic hearing loss 3A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA134947

rs_111033222

15 SubmittersRCV000037814 RCV000290549 RCV000321209 RCV000345561 RCV000756205

NM_004004.6(GJB2):c.169C>T (p.Gln57Ter)

SNV
Germline

Chr13:20189413

Pathogenic

Rare genetic deafness
Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided
Hearing loss
GJB2-related disorder
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA261637

rs_111033297

13 SubmittersRCV000211761 RCV000505512 RCV000711347 RCV000678870 RCV004534804 RCV005003433

NM_004004.6(GJB2):c.194A>G (p.Tyr65Cys)

SNV
Germline

Chr13:20189388

Conflicting classifications of pathogenicity

Rare genetic deafness
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 1A
not specified
7 conditions

Criteria Provided
Conflicting Classifications

CA261639

rs_111033203

7 SubmittersRCV000037819 RCV001731333 RCV001826561 RCV004526604 RCV005007953

NM_004004.6(GJB2):c.19C>T (p.Gln7Ter)

SNV
Germline

Chr13:20189563

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Rare genetic deafness
Inborn genetic diseases
Condition: not provided
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA261641

rs_111033451

8 SubmittersRCV000037820 RCV000211718 RCV000624822 RCV001389832 RCV005007954

NM_004004.6(GJB2):c.1A>G (p.Met1Val)

SNV
Germline

Chr13:20189581

Pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Rare genetic deafness
Condition: not provided
8 conditions
Nonsyndromic genetic hearing loss
Monogenic hearing loss

Reviewed By Expert Panel

CA198806

rs_111033293

14 SubmittersRCV000037821 RCV000211762 RCV000724654 RCV000762907 RCV003990963 RCV006255137

NM_004004.6(GJB2):c.227T>C (p.Leu76Pro)

SNV
Germline

Chr13:20189355

Likely pathogenic

not specified
Nonsyndromic genetic hearing loss
Autosomal dominant nonsyndromic hearing loss 3A
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 1A

Reviewed By Expert Panel

CA134953

rs_111033361

8 SubmittersRCV000037824 RCV001252671 RCV001836634 RCV001852792 RCV005237459

NM_004004.6(GJB2):c.279G>A (p.Met93Ile)

SNV
Germline

Chr13:20189303

Pathogenic/Likely pathogenic

Rare genetic deafness
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 1A
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA134957

rs_397516871

7 SubmittersRCV000037832 RCV000523752 RCV000675160 RCV002482993

NM_004004.6(GJB2):c.283G>A (p.Val95Met)

SNV
Germline

Chr13:20189299

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Hearing impairment
Rare genetic deafness
8 conditions
Condition: not provided
Nonsyndromic genetic hearing loss
GJB2-related disorder
7 conditions
Nonsyndromic Deafness

Criteria Provided
Multiple Submitters
No Conflicts

CA172220

rs_111033299

17 SubmittersRCV000037834 RCV000146014 RCV000211719 RCV000515247 RCV000516830 RCV001257560 RCV004734552 RCV005007955 RCV006255138

NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)

SNV
Germline

Chr13:20189548

Likely pathogenic

Nonsyndromic genetic hearing loss
Condition: not provided
Hearing impairment
Autosomal recessive nonsyndromic hearing loss 1A
Autosomal dominant nonsyndromic hearing loss 3A
Hearing loss
Autosomal recessive nonsyndromic hearing loss 1B
Autosomal recessive nonsyndromic hearing loss 1A
Rare genetic deafness
Mutilating keratoderma
7 conditions
GJB2-related disorder

Reviewed By Expert Panel

CA172224

rs_104894408

18 SubmittersRCV000037839 RCV000080371 RCV000146017 RCV000410006 RCV000411497 RCV000678859 RCV001004399 RCV000844703 RCV002247424 RCV003224797 RCV004734553

NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)

SNV
Germline

Chr13:20189217

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Hearing impairment
Rare genetic deafness
Autosomal dominant nonsyndromic hearing loss 3A
Hearing loss
Condition: not provided
not specified
Inborn genetic diseases
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA172230

rs_111033295

14 SubmittersRCV000037844 RCV000146021 RCV000211721 RCV000412394 RCV000678882 RCV000757331 RCV000999926 RCV004018850 RCV005007957

NM_004004.6(GJB2):c.370C>T (p.Gln124Ter)

SNV
Germline

Chr13:20189212

Pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Rare genetic deafness
Hearing loss
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA261645

rs_397516874

11 SubmittersRCV000037846 RCV000211777 RCV000678883 RCV001171668

NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)

SNV
Germline

Chr13:20189166

Pathogenic/Likely pathogenic

Rare genetic deafness
Hearing impairment
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 1A
Autosomal dominant nonsyndromic hearing loss 3A
8 conditions
Hearing loss
Autosomal recessive nonsyndromic hearing loss 1A
Autosomal recessive nonsyndromic hearing loss 1B
7 conditions
Intellectual disability
Mutilating keratoderma
Palmoplantar keratoderma-deafness syndrome
Knuckle pads, deafness AND leukonychia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA172232

rs_76434661

27 SubmittersRCV000037851 RCV000146022 RCV000255015 RCV000289146 RCV000409236 RCV000515309 RCV000678884 RCV001004388 RCV005007958 RCV005625227 RCV005357270

NM_004004.6(GJB2):c.44A>C (p.Lys15Thr)

SNV
Germline

Chr13:20189538

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Rare genetic deafness
Condition: not provided
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA261649

rs_111033217

9 SubmittersRCV000037855 RCV000211780 RCV000490112 RCV005003434

NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter)

SNV
Germline

Chr13:20189126

Pathogenic/Likely pathogenic

Rare genetic deafness
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA261651

rs_111033420

6 SubmittersRCV000037856 RCV000578957 RCV000667555

NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)

SNV
Germline

Chr13:20189104

Conflicting classifications of pathogenicity

not specified
Ichthyosis, hystrix-like, with hearing loss
Autosomal dominant nonsyndromic hearing loss 3A
Nonsyndromic Deafness
Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided
Nonsyndromic genetic hearing loss
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
GJB2-related disorder

Criteria Provided
Conflicting Classifications

CA134977

rs_34988750

17 SubmittersRCV000037858 RCV000329133 RCV000359564 RCV000501921 RCV000674006 RCV000587337 RCV001257159 RCV001563854 RCV004534807

NM_004004.6(GJB2):c.503A>G (p.Lys168Arg)

SNV
Germline

Chr13:20189079

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided
Nonsyndromic genetic hearing loss

Criteria Provided
Conflicting Classifications

CA134979

rs_200104362

8 SubmittersRCV000037859 RCV000505507 RCV000590717 RCV001257049

NM_004004.6(GJB2):c.499G>A (p.Val167Met)

SNV
Germline

Chr13:20189083

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided
8 conditions

Criteria Provided
Conflicting Classifications

CA134983

rs_111033360

6 SubmittersRCV000037861 RCV000665938 RCV000991849 RCV005400421

NM_004004.6(GJB2):c.511G>A (p.Ala171Thr)

SNV
Germline

Chr13:20189071

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA134985

rs_201004645

8 SubmittersRCV000037862 RCV000505525 RCV002513485

NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)

SNV
Germline

Chr13:20188965

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Hearing impairment
Rare genetic deafness
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 1A
Autosomal recessive nonsyndromic hearing loss 1B
Nonsyndromic genetic hearing loss
GJB2-related disorder
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA172236

rs_111033294

18 SubmittersRCV000037868 RCV000146025 RCV000211783 RCV000724546 RCV001004386 RCV001257566 RCV004734554 RCV005003435

NM_004004.6(GJB2):c.95G>A (p.Arg32His)

SNV
Germline

Chr13:20189487

Pathogenic

Rare genetic deafness
Autosomal recessive nonsyndromic hearing loss 1A
Autosomal dominant nonsyndromic hearing loss 3A
Condition: not provided
nonsyndromic sensorineural hearing loss
GJB2-related disorder
Monogenic hearing loss

Criteria Provided
Multiple Submitters
No Conflicts

CA261654

rs_111033190

12 SubmittersRCV000037873 RCV000410025 RCV000411577 RCV001218538 RCV001374640 RCV004534808 RCV006258939

NM_004004.6(GJB2):c.9G>A (p.Trp3Ter)

SNV
Germline

Chr13:20189573

Pathogenic/Likely pathogenic

Rare genetic deafness
Autosomal recessive nonsyndromic hearing loss 1A
Nonsyndromic genetic hearing loss
Condition: not provided
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA261655

rs_111033401

8 SubmittersRCV000037874 RCV000666282 RCV001293597 RCV001852793 RCV002496604

NM_001110219.3(GJB6):c.15G>A (p.Thr5=)

SNV
Germline

Chr13:20223466

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hidrotic ectodermal dysplasia syndrome
Autosomal recessive nonsyndromic hearing loss 1A
Autosomal recessive nonsyndromic hearing loss 1B
Autosomal dominant nonsyndromic hearing loss 3B
Hidrotic ectodermal dysplasia syndrome

Criteria Provided
Conflicting Classifications

CA136456

rs_150075979

5 SubmittersRCV000038706 RCV000723383 RCV001112813 RCV002054714

NM_001110219.3(GJB6):c.489G>A (p.Leu163=)

SNV
Germline

Chr13:20222992

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 3B
Hidrotic ectodermal dysplasia syndrome
Autosomal recessive nonsyndromic hearing loss 1A
Autosomal recessive nonsyndromic hearing loss 1B
Hidrotic ectodermal dysplasia syndrome

Criteria Provided
Conflicting Classifications

CA136461

rs_35002004

6 SubmittersRCV000038708 RCV000723451 RCV001080917 RCV001110053

NM_004004.6(GJB2):c.187G>A (p.Val63Met)

SNV
Germline

Chr13:20189395

Likely pathogenic

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA222244

rs_370696868

3 SubmittersRCV000080367 RCV005431465

NM_004004.6(GJB2):c.298C>T (p.His100Tyr)

SNV
Germline

Chr13:20189284

Pathogenic

Hearing impairment
Autosomal recessive nonsyndromic hearing loss 1A
Rare genetic deafness
Hearing loss
Condition: not provided
nonsyndromic sensorineural hearing loss
GJB2-related disorder
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA172221

rs_143343083

17 SubmittersRCV000146015 RCV000169347 RCV000215444 RCV000678877 RCV000798119 RCV001374647 RCV004734702 RCV005008049

NM_004004.6(GJB2):c.132G>A (p.Trp44Ter)

SNV
Germline

Chr13:20189450

Pathogenic

Hearing impairment
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA172211

rs_104894407

9 SubmittersRCV000146007 RCV000593364 RCV000984267

NM_004004.6(GJB2):c.493C>T (p.Arg165Trp)

SNV
Germline

Chr13:20189089

Conflicting classifications of pathogenicity

not specified
Ichthyosis, hystrix-like, with hearing loss
Autosomal dominant nonsyndromic hearing loss 3A
Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA180672

rs_376898963

10 SubmittersRCV000154346 RCV000299050 RCV000404295 RCV000668216 RCV000724444

NM_004004.6(GJB2):c.379C>T (p.Arg127Cys)

SNV
Germline

Chr13:20189203

Pathogenic/Likely pathogenic

Rare genetic deafness
8 conditions
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA176158

rs_727503066

5 SubmittersRCV000150729 RCV000762903 RCV001785477 RCV005237586

NM_004004.6(GJB2):c.239A>C (p.Gln80Pro)

SNV
Germline

Chr13:20189343

Pathogenic/Likely pathogenic

Rare genetic deafness
Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided
Nonsyndromic genetic hearing loss

Criteria Provided
Multiple Submitters
No Conflicts

CA273446

rs_727504302

7 SubmittersRCV000154345 RCV000505508 RCV001288584 RCV005237590

NM_004004.6(GJB2):c.188T>C (p.Val63Ala)

SNV
Germline

Chr13:20189394

Conflicting classifications of pathogenicity

not specified
Condition: not provided
8 conditions
Autosomal recessive nonsyndromic hearing loss 1A
7 conditions

Criteria Provided
Conflicting Classifications

CA180700

rs_727504309

8 SubmittersRCV000154364 RCV000711348 RCV000765115 RCV001271875 RCV005008061

NM_004004.6(GJB2):c.250G>T (p.Val84Leu)

SNV
Germline

Chr13:20189332

Pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
not specified
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA234087

rs_104894409

11 SubmittersRCV000169112 RCV000505951 RCV000790715

NM_004004.6(GJB2):c.355G>A (p.Glu119Lys)

SNV
Germline

Chr13:20189227

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 3A
Autosomal recessive nonsyndromic hearing loss 1A
Ichthyosis, hystrix-like, with hearing loss
Hearing loss
not specified
Sensorineural hearing loss disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA273833

rs_150529554

12 SubmittersRCV000336897 RCV000278504 RCV000407574 RCV000678880 RCV000757332 RCV001175238 RCV001288924

NM_004004.6(GJB2):c.208C>G (p.Pro70Ala)

SNV
Germline

Chr13:20189374

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA273831

rs_200023879

3 SubmittersRCV001895869 RCV005629670

NM_004004.6(GJB2):c.598G>T (p.Gly200Ter)

SNV
Germline

Chr13:20188984

Pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Nonsyndromic genetic hearing loss

Criteria Provided
Multiple Submitters
No Conflicts

CA274205

rs_786204597

3 SubmittersRCV000169350 RCV005055667

NM_004004.6(GJB2):c.596C>T (p.Ser199Phe)

SNV
Germline

Chr13:20188986

Pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Rare genetic deafness
Condition: not provided
7 conditions
GJB2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA274470

rs_771748289

13 SubmittersRCV000169613 RCV000609655 RCV000991850 RCV003224180 RCV004535149

NM_004004.6(GJB2):c.408C>A (p.Tyr136Ter)

SNV
Germline

Chr13:20189174

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274369

rs_786204690

4 SubmittersRCV000169498 RCV001850402

NM_004004.6(GJB2):c.246C>G (p.Ile82Met)

SNV
Germline

Chr13:20189336

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided
Nonsyndromic genetic hearing loss
GJB2-related disorder
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA273919

rs_781534323

8 SubmittersRCV000169070 RCV001207124 RCV001257041 RCV004528922 RCV005008087

NM_004004.6(GJB2):c.230G>A (p.Trp77Ter)

SNV
Germline

Chr13:20189352

Pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Rare genetic deafness
Condition: not provided
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA274460

rs_104894395

7 SubmittersRCV000169604 RCV000218259 RCV001382072 RCV005008092

NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)

SNV
Germline

Chr13:20189451

Pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
8 conditions
Condition: not provided
Inborn genetic diseases
GJB2-related disorder
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA274012

rs_104894413

16 SubmittersRCV000169176 RCV000515211 RCV000517231 RCV000624765 RCV004734765 RCV005008089

NM_004004.6(GJB2):c.119C>G (p.Ala40Gly)

SNV
Germline

Chr13:20189463

Pathogenic

Autosomal recessive nonsyndromic hearing loss 1A

Criteria Provided
Single Submitter

CA274135

rs_111033296

2 SubmittersRCV000169292

NM_004004.6(GJB2):c.94C>T (p.Arg32Cys)

SNV
Germline

Chr13:20189488

Pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Rare genetic deafness
Condition: not provided
not specified
7 conditions
Monogenic hearing loss

Criteria Provided
Multiple Submitters
No Conflicts

CA273921

rs_371024165

14 SubmittersRCV000169075 RCV000614720 RCV000724651 RCV001001448 RCV005003515 RCV005860022

NM_004004.6(GJB2):c.-23G>T

SNV
Germline

Chr13:20192783

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 1A
Rare genetic deafness
Hearing loss
Nonsyndromic genetic hearing loss
7 conditions
Palmoplantar keratoderma-deafness syndrome
Mutilating keratoderma
Knuckle pads, deafness AND leukonychia syndrome

Criteria Provided
Conflicting Classifications

CA274431

rs_786204734

9 SubmittersRCV000169581 RCV000220459 RCV000678857 RCV001290620 RCV005003519 RCV005361055

NM_004004.6(GJB2):c.24G>A (p.Thr8=)

SNV
Germline

Chr13:20189558

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided
Nonsyndromic genetic hearing loss
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA274828

rs_533231493

7 SubmittersRCV000172829 RCV000909190 RCV001257045 RCV004975304

NM_004004.6(GJB2):c.380G>T (p.Arg127Leu)

SNV
Germline

Chr13:20189202

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 1A

Criteria Provided
Conflicting Classifications

CA241521

rs_111033196

10 SubmittersRCV000175760 RCV000587104 RCV000666278

NM_004004.6(GJB2):c.465T>A (p.Tyr155Ter)

SNV
Germline

Chr13:20189117

Pathogenic

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA275075

rs_772264564

4 SubmittersRCV000175761 RCV001276815

NM_004004.6(GJB2):c.120A>C (p.Ala40=)

SNV
Germline

Chr13:20189462

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 1A
Ichthyosis, hystrix-like, with hearing loss
Autosomal dominant nonsyndromic hearing loss 3A
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA241523

rs_561870637

8 SubmittersRCV000263886 RCV000313189 RCV000367888 RCV000586445 RCV000855558

NM_001110219.3(GJB6):c.177A>G (p.Gly59=)

SNV
Germline

Chr13:20223304

Conflicting classifications of pathogenicity

Condition: not provided
Hidrotic ectodermal dysplasia syndrome
Autosomal dominant nonsyndromic hearing loss 3B
Hidrotic ectodermal dysplasia syndrome
Autosomal recessive nonsyndromic hearing loss 1B
Autosomal recessive nonsyndromic hearing loss 1A
GJB6-related disorder

Criteria Provided
Conflicting Classifications

CA243400

rs_371123633

5 SubmittersRCV000177262 RCV000355903 RCV001087329 RCV004537425

NM_004004.6(GJB2):c.598G>A (p.Gly200Arg)

SNV
Germline

Chr13:20188984

Pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Autosomal dominant nonsyndromic hearing loss 3A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA357244

rs_786204597

5 SubmittersRCV000210857 RCV000411925 RCV001853379

NM_004004.6(GJB2):c.385G>T (p.Glu129Ter)

SNV
Germline

Chr13:20189197

Pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16044153

rs_397516875

4 SubmittersRCV000416724 RCV000760552

NM_004004.6(GJB2):c.583A>G (p.Met195Val)

SNV
Germline

Chr13:20188999

Pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Autosomal dominant nonsyndromic hearing loss 3A
Autosomal recessive nonsyndromic hearing loss 1A
Nonsyndromic genetic hearing loss
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 3A
8 conditions
GJB2-related disorder

Reviewed By Expert Panel

CA6904233

rs_532203068

13 SubmittersRCV000505510 RCV000490342 RCV001252673 RCV001853385 RCV002283467 RCV002503834 RCV004530262

NM_001110219.3(GJB6):c.301G>A (p.Glu101Lys)

SNV
Germline

Chr13:20223180

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 1B
Autosomal dominant nonsyndromic hearing loss 3B
Autosomal recessive nonsyndromic hearing loss 1B
X-linked mixed hearing loss with perilymphatic gusher
Hidrotic ectodermal dysplasia syndrome
Autosomal dominant nonsyndromic hearing loss 3B
Autosomal recessive nonsyndromic hearing loss 1A
not specified

Criteria Provided
Conflicting Classifications

CA6904473

rs_571454176

3 SubmittersRCV000490500 RCV002478761 RCV003330585

NM_004004.6(GJB2):c.389G>C (p.Gly130Ala)

SNV
Germline

Chr13:20189193

Conflicting classifications of pathogenicity

Rare genetic deafness
Autosomal dominant nonsyndromic hearing loss 3A
Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided
Nonsyndromic genetic hearing loss

Criteria Provided
Conflicting Classifications

CA10576937

rs_779018464

5 SubmittersRCV000213896 RCV000409464 RCV000411886 RCV001853423 RCV005632323

NM_004004.6(GJB2):c.-22-6T>C

SNV
Germline

Chr13:20189609

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Ichthyosis, hystrix-like, with hearing loss
Autosomal recessive nonsyndromic hearing loss 1A
Autosomal dominant nonsyndromic hearing loss 3A
GJB2-related disorder
Nonsyndromic Deafness

Criteria Provided
Conflicting Classifications

CA6904347

rs_141962118

14 SubmittersRCV000219387 RCV000590691 RCV001109961 RCV001109963 RCV001109962 RCV004532756 RCV005429233

NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr)

SNV
Germline

Chr13:20189076

Pathogenic

Condition: not provided
8 conditions
Autosomal recessive nonsyndromic hearing loss 1A
Rare genetic deafness

Criteria Provided
Multiple Submitters
No Conflicts

CA6904251

rs_774518779

7 SubmittersRCV000256090 RCV000763322 RCV000587164 RCV004017573

NM_001110219.3(GJB6):c.672A>G (p.Arg224=)

SNV
Germline

Chr13:20222809

Conflicting classifications of pathogenicity

Condition: not provided
Hidrotic ectodermal dysplasia syndrome
Autosomal dominant nonsyndromic hearing loss 3B
Hidrotic ectodermal dysplasia syndrome
Autosomal recessive nonsyndromic hearing loss 1B
Autosomal recessive nonsyndromic hearing loss 1A

Criteria Provided
Conflicting Classifications

CA6904399

rs_756597598

3 SubmittersRCV000270365 RCV001114091 RCV002059176

NM_024009.3(GJB3):c.499G>A (p.Val167Met)

SNV
Germline

Chr1:34785261

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant nonsyndromic hearing loss 2B
Erythrokeratodermia variabilis et progressiva 1
Autosomal recessive nonsyndromic hearing loss 1A

Criteria Provided
Conflicting Classifications

CA754846

rs_376748531

5 SubmittersRCV000407015 RCV000763901

NM_001110219.3(GJB6):c.60C>T (p.Ile20=)

SNV
Germline

Chr13:20223421

Conflicting classifications of pathogenicity

Hidrotic ectodermal dysplasia syndrome
Autosomal recessive nonsyndromic hearing loss 1B
Autosomal recessive nonsyndromic hearing loss 1A
Autosomal dominant nonsyndromic hearing loss 3B
Hidrotic ectodermal dysplasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6904520

rs_778513540

3 SubmittersRCV000266682 RCV000890545 RCV003409482

NM_004004.6(GJB2):c.*1033G>A

SNV
Germline

Chr13:20187868

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 1A
Ichthyosis, hystrix-like, with hearing loss
Autosomal dominant nonsyndromic hearing loss 3A

Criteria Provided
Conflicting Classifications

CA10639102

rs_185790172

1 SubmittersRCV000287144 RCV000281101 RCV000373371

NM_004004.6(GJB2):c.*1016A>G

SNV
Germline

Chr13:20187885

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 3A
Ichthyosis, hystrix-like, with hearing loss
Autosomal recessive nonsyndromic hearing loss 1A

Criteria Provided
Conflicting Classifications

CA10639103

rs_537683957

1 SubmittersRCV000306675 RCV000404968 RCV000404244

NM_004004.6(GJB2):c.*786G>A

SNV
Germline

Chr13:20188115

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 1A
Ichthyosis, hystrix-like, with hearing loss
Autosomal dominant nonsyndromic hearing loss 3A

Criteria Provided
Conflicting Classifications

CA10642989

rs_187158699

1 SubmittersRCV000303353 RCV000347805 RCV000393675

NM_004004.6(GJB2):c.241C>G (p.Leu81Val)

SNV
Germline

Chr13:20189341

Conflicting classifications of pathogenicity

Ichthyosis, hystrix-like, with hearing loss
Autosomal dominant nonsyndromic hearing loss 3A
Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6904298

rs_145216882

3 SubmittersRCV000280037 RCV000340839 RCV000671813 RCV005090454

NM_001110219.3(GJB6):c.405G>A (p.Thr135=)

SNV
Germline

Chr13:20223076

Conflicting classifications of pathogenicity

Hidrotic ectodermal dysplasia syndrome
not specified
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 1B
Autosomal recessive nonsyndromic hearing loss 1A
Autosomal dominant nonsyndromic hearing loss 3B
Hidrotic ectodermal dysplasia syndrome
GJB6-related disorder

Criteria Provided
Conflicting Classifications

CA6904444

rs_145438428

5 SubmittersRCV000392327 RCV000612322 RCV001546167 RCV002056360 RCV004537765

NM_004004.6(GJB2):c.439G>A (p.Glu147Lys)

SNV
Germline

Chr13:20189143

Pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Autosomal dominant nonsyndromic hearing loss 3A
not specified
Condition: not provided
Rare genetic deafness
Nonsyndromic genetic hearing loss
GJB2-related disorder
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA6904269

rs_767178508

13 SubmittersRCV000409580 RCV000411084 RCV000506862 RCV000488996 RCV000825565 RCV001257565 RCV004735500 RCV005010301

NM_004004.6(GJB2):c.238C>T (p.Gln80Ter)

SNV
Germline

Chr13:20189344

Pathogenic/Likely pathogenic

Autosomal dominant nonsyndromic hearing loss 3A
Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided
Nonsyndromic genetic hearing loss
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA6904300

rs_199883710

5 SubmittersRCV000410120 RCV000412105 RCV001054602 RCV004767246 RCV005010298

NM_004004.6(GJB2):c.59T>C (p.Ile20Thr)

SNV
Germline

Chr13:20189523

Pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Autosomal dominant nonsyndromic hearing loss 3A
Hearing loss
Nonsyndromic genetic hearing loss
nonsyndromic sensorineural hearing loss
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16041595

rs_1057517519

7 SubmittersRCV000410601 RCV000411693 RCV000678863 RCV001257156 RCV001374656 RCV001234615

NM_004004.6(GJB2):c.2T>C (p.Met1Thr)

SNV
Germline

Chr13:20189580

Pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Autosomal dominant nonsyndromic hearing loss 3A
Condition: not provided
Nonsyndromic genetic hearing loss
GJB2-related disorder
7 conditions

Reviewed By Expert Panel

CA6904336

rs_371086981

8 SubmittersRCV000409687 RCV000410366 RCV000991847 RCV001171533 RCV004530500 RCV005010302

NM_004004.6(GJB2):c.146C>T (p.Ala49Val)

SNV
Germline

Chr13:20189436

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16042821

rs_1057517976

5 SubmittersRCV000412967 RCV000666314 RCV005090668

NM_004004.6(GJB2):c.-22-2A>C

SNV
Germline

Chr13:20189605

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
not specified
Condition: not provided
Nonsyndromic genetic hearing loss
Ichthyosis, hystrix-like, with hearing loss
Autosomal dominant nonsyndromic hearing loss 3A
GJB2-related disorder
Clear cell carcinoma of kidney
Palmoplantar keratoderma-deafness syndrome
Mutilating keratoderma
Knuckle pads, deafness AND leukonychia syndrome
7 conditions
Nonpapillary renal cell carcinoma
Cervical cancer
Sarcoma
Malignant tumor of urinary bladder
Melanoma
Hepatocellular carcinoma

Reviewed By Expert Panel

CA6904346

rs_201895089

22 SubmittersRCV000416425 RCV000507029 RCV000579320 RCV000710316 RCV001109959 RCV001109960 RCV004530519 RCV005900710 RCV005355708 RCV005004150 RCV005900708 RCV005900709 RCV005900711 RCV005900706 RCV005900712 RCV005900707

NM_004004.6(GJB2):c.563A>G (p.Lys188Arg)

SNV
Germline

Chr13:20189019

Likely pathogenic

Condition: not provided
Nonsyndromic genetic hearing loss
Autosomal recessive nonsyndromic hearing loss 1A

Reviewed By Expert Panel

CA387460893

rs_1131691709

4 SubmittersRCV000493772 RCV001004776 RCV005431707

NM_004004.6(GJB2):c.585G>A (p.Met195Ile)

SNV
Germline

Chr13:20188997

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA387460847

rs_570552952

4 SubmittersRCV000505530 RCV001857234 RCV005431714

NM_004004.6(GJB2):c.584T>C (p.Met195Thr)

SNV
Germline

Chr13:20188998

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided
not specified
7 conditions
Nonsyndromic genetic hearing loss

Reviewed By Expert Panel

CA387460849

rs_1378679640

7 SubmittersRCV000505521 RCV000731139 RCV003387862 RCV005004202 RCV004595511

NM_004004.6(GJB2):c.527A>G (p.Asn176Ser)

SNV
Germline

Chr13:20189055

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387460966

rs_1555341840

2 SubmittersRCV000505509 RCV003574781

NM_004004.6(GJB2):c.60T>G (p.Ile20Met)

SNV
Germline

Chr13:20189522

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided
7 conditions
Nonsyndromic genetic hearing loss

Criteria Provided
Multiple Submitters
No Conflicts

CA6904326

rs_749693224

6 SubmittersRCV000505534 RCV001857232 RCV005004201 RCV005632433

NM_004004.6(GJB2):c.187G>T (p.Val63Leu)

SNV
Germline

Chr13:20189395

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 3A

Criteria Provided
Conflicting Classifications

CA6904306

rs_370696868

5 SubmittersRCV000668102 RCV001857901 RCV003335444

NM_004004.6(GJB2):c.110T>C (p.Val37Ala)

SNV
Germline

Chr13:20189472

Likely pathogenic

Condition: not provided
Rare genetic deafness
Autosomal recessive nonsyndromic hearing loss 1A
Nonsyndromic genetic hearing loss
7 conditions

Reviewed By Expert Panel

CA6904317

rs_141774369

8 SubmittersRCV000520583 RCV000826112 RCV000855645 RCV001252676 RCV005010478

NM_004004.6(GJB2):c.284T>C (p.Val95Ala)

SNV
Germline

Chr13:20189298

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 1A
not specified

Criteria Provided
Conflicting Classifications

CA387461474

rs_1250849257

4 SubmittersRCV000589231 RCV001834858 RCV005431786

NM_001110219.3(GJB6):c.111G>A (p.Val37=)

SNV
Germline

Chr13:20223370

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 1B
Autosomal recessive nonsyndromic hearing loss 1A
Autosomal dominant nonsyndromic hearing loss 3B
Hidrotic ectodermal dysplasia syndrome
GJB6-related disorder

Criteria Provided
Conflicting Classifications

CA6904508

rs_543659673

3 SubmittersRCV000593231 RCV002062028 RCV004543340

NM_004004.6(GJB2):c.95G>T (p.Arg32Leu)

SNV
Germline

Chr13:20189487

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Hearing loss
Condition: not provided
Nonsyndromic genetic hearing loss
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA6904322

rs_111033190

9 SubmittersRCV000597784 RCV000678865 RCV000727027 RCV002232559 RCV002476305

NM_004004.6(GJB2):c.533T>C (p.Val178Ala)

SNV
Germline

Chr13:20189049

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided
Nonsyndromic genetic hearing loss

Criteria Provided
Multiple Submitters
No Conflicts

CA6904243

rs_568612627

5 SubmittersRCV000665870 RCV001218684 RCV001779042

NM_004004.6(GJB2):c.514T>A (p.Trp172Arg)

SNV
Germline

Chr13:20189068

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA6904247

rs_770330002

4 SubmittersRCV000673989 RCV001861830 RCV005004353

NM_004004.6(GJB2):c.1A>T (p.Met1Leu)

SNV
Germline

Chr13:20189581

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided
Nonsyndromic genetic hearing loss

Reviewed By Expert Panel

CA387462311

rs_111033293

3 SubmittersRCV000665536 RCV003660822 RCV003991034

NM_004004.6(GJB2):c.133G>A (p.Gly45Arg)

SNV
Germline

Chr13:20189449

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 1A
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387461860

rs_1326514987

4 SubmittersRCV000672597 RCV000825343 RCV001861812

NM_004004.6(GJB2):c.415A>T (p.Ser139Cys)

SNV
Germline

Chr13:20189167

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided

Criteria Provided
Single Submitter

CA387461195

rs_1555341907

2 SubmittersRCV000668607 RCV002531202

NM_004004.6(GJB2):c.257C>T (p.Thr86Met)

SNV
Germline

Chr13:20189325

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387461528

rs_1291519904

3 SubmittersRCV000668763 RCV005255616

NM_004004.6(GJB2):c.72G>A (p.Trp24Ter)

SNV
Germline

Chr13:20189510

Pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided

Criteria Provided
Single Submitter

CA387462076

rs_769486081

2 SubmittersRCV000670427 RCV002531252

NM_004004.6(GJB2):c.35G>A (p.Gly12Asp)

SNV
Germline

Chr13:20189547

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 1A
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6904330

rs_1801002

4 SubmittersRCV000666230 RCV001805787 RCV001662735

NM_004004.6(GJB2):c.2T>G (p.Met1Arg)

SNV
Germline

Chr13:20189580

Pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided
Nonsyndromic genetic hearing loss
7 conditions

Reviewed By Expert Panel

CA387462304

rs_371086981

4 SubmittersRCV000667085 RCV003688870 RCV003991035 RCV005010654

NM_004004.6(GJB2):c.-22-2A>G

SNV
Germline

Chr13:20189605

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 1A
not specified
7 conditions

Criteria Provided
Conflicting Classifications

CA246461181

rs_201895089

3 SubmittersRCV000667082 RCV004689836 RCV005010653

NM_004004.6(GJB2):c.535G>C (p.Asp179His)

SNV
Germline

Chr13:20189047

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided
7 conditions
not specified

Criteria Provided
Conflicting Classifications

CA387460951

rs_28931595

4 SubmittersRCV000665713 RCV001855444 RCV005010650 RCV005901441

NM_004004.6(GJB2):c.94C>A (p.Arg32Ser)

SNV
Germline

Chr13:20189488

Pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
8 conditions
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA387461995

rs_371024165

4 SubmittersRCV000664869 RCV000762905 RCV001861739

NM_004004.6(GJB2):c.550C>T (p.Arg184Trp)

SNV
Germline

Chr13:20189032

Pathogenic/Likely pathogenic

Hearing loss
Autosomal dominant nonsyndromic hearing loss 3A
Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided
Mutilating keratoderma
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA246459909

rs_998045226

9 SubmittersRCV000678887 RCV001078465 RCV001089546 RCV001390263 RCV002249403 RCV005004358

NM_004004.6(GJB2):c.474C>G (p.Tyr158Ter)

SNV
Germline

Chr13:20189108

Pathogenic

Hearing loss
Autosomal recessive nonsyndromic hearing loss 1A

Criteria Provided
Single Submitter

CA387461068

rs_375759781

2 SubmittersRCV000678886 RCV002287436

NM_004004.6(GJB2):c.516G>C (p.Trp172Cys)

SNV
Germline

Chr13:20189066

Pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Nonsyndromic genetic hearing loss

Reviewed By Expert Panel

CA387460990

rs_1302739538

2 SubmittersRCV000721943 RCV001004778

NM_004004.6(GJB2):c.244A>G (p.Ile82Val)

SNV
Germline

Chr13:20189338

Pathogenic

Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
Autosomal recessive nonsyndromic hearing loss 1A

Criteria Provided
Single Submitter

CA387461552

rs_1566528711

2 SubmittersRCV000735855 RCV005860137

NM_024009.3(GJB3):c.8G>A (p.Trp3Ter)

SNV
Germline

Chr1:34784770

Pathogenic

Autosomal recessive nonsyndromic hearing loss 1A

No Assertion Criteria Provided

CA339310198

rs_1557659237

1 SubmittersRCV000770824

NM_004004.6(GJB2):c.257C>G (p.Thr86Arg)

SNV
Germline

Chr13:20189325

Pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
nonsyndromic sensorineural hearing loss
Condition: not provided
Nonsyndromic genetic hearing loss
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA387461527

rs_1291519904

8 SubmittersRCV000778387 RCV001374648 RCV001784383 RCV003317365 RCV005012295

NM_004004.6(GJB2):c.195C>G (p.Tyr65Ter)

SNV
Germline

Chr13:20189387

Pathogenic/Likely pathogenic

GJB2-related disorder
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA387461648

rs_763572195

3 SubmittersRCV000778388 RCV001231552 RCV001835954

NM_004004.6(GJB2):c.37G>A (p.Val13Met)

SNV
Germline

Chr13:20189545

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 1A
Ichthyosis, hystrix-like, with hearing loss
Autosomal dominant nonsyndromic hearing loss 3A
not specified

Criteria Provided
Conflicting Classifications

CA6904329

rs_768130937

4 SubmittersRCV000779131 RCV001112644 RCV001112645 RCV001193185

NM_004004.6(GJB2):c.510C>T (p.Asn170=)

SNV
Germline

Chr13:20189072

Conflicting classifications of pathogenicity

not specified
Ichthyosis, hystrix-like, with hearing loss
Autosomal dominant nonsyndromic hearing loss 3A
Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided
GJB2-related disorder

Criteria Provided
Conflicting Classifications

CA6904249

rs_763068053

6 SubmittersRCV000781417 RCV001113810 RCV001113811 RCV001113812 RCV001436900 RCV004540098

NM_004004.6(GJB2):c.299A>T (p.His100Leu)

SNV
Germline

Chr13:20189283

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided
Nonsyndromic genetic hearing loss

Criteria Provided
Multiple Submitters
No Conflicts

CA387461446

rs_1422767764

4 SubmittersRCV000781416 RCV001873191 RCV004017739

NM_004004.6(GJB2):c.158G>T (p.Cys53Phe)

SNV
Unknown

Chr13:20189424

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 1A

Criteria Provided
Single Submitter

CA387461760

rs_587783645

1 SubmittersRCV000785599

NM_001110219.3(GJB6):c.30C>T (p.Ile10=)

SNV
Germline

Chr13:20223451

Conflicting classifications of pathogenicity

Condition: not provided
Hidrotic ectodermal dysplasia syndrome
Hidrotic ectodermal dysplasia syndrome
Autosomal dominant nonsyndromic hearing loss 3B
Autosomal recessive nonsyndromic hearing loss 1A
Autosomal recessive nonsyndromic hearing loss 1B

Criteria Provided
Conflicting Classifications

CA6904524

rs_377181573

3 SubmittersRCV000897879 RCV001112812 RCV002065645

NM_004004.6(GJB2):c.517C>T (p.Pro173Ser)

SNV
Germline

Chr13:20189065

Likely pathogenic

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA387460986

rs_1959056736

3 SubmittersRCV001044753 RCV004789378

NM_004004.6(GJB2):c.196G>A (p.Asp66Asn)

SNV
Germline

Chr13:20189386

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 3A
Autosomal recessive nonsyndromic hearing loss 1A
Ichthyosis, hystrix-like, with hearing loss
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA387461646

rs_104894403

3 SubmittersRCV001109877 RCV001109875 RCV001109876 RCV001856469 RCV003331045

NM_004004.6(GJB2):c.174A>G (p.Pro58=)

SNV
Germline

Chr13:20189408

Conflicting classifications of pathogenicity

Ichthyosis, hystrix-like, with hearing loss
Autosomal recessive nonsyndromic hearing loss 1A
Autosomal dominant nonsyndromic hearing loss 3A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6904309

rs_778922005

2 SubmittersRCV001109879 RCV001109878 RCV001109880 RCV001411877

NM_001110219.3(GJB6):c.212T>C (p.Val71Ala)

SNV
Germline

Chr13:20223269

Conflicting classifications of pathogenicity

Hidrotic ectodermal dysplasia syndrome
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 3B
Autosomal recessive nonsyndromic hearing loss 1A
Hidrotic ectodermal dysplasia syndrome
Autosomal recessive nonsyndromic hearing loss 1B

Criteria Provided
Conflicting Classifications

CA6904492

rs_200172266

5 SubmittersRCV001110826 RCV001563386 RCV001862881

NM_004004.6(GJB2):c.40A>G (p.Asn14Asp)

SNV
Germline

Chr13:20189542

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA387462206

rs_1476034902

3 SubmittersRCV001204537 RCV004768913

NM_004004.6(GJB2):c.505T>C (p.Cys169Arg)

SNV
Germline

Chr13:20189077

Likely pathogenic

nonsyndromic sensorineural hearing loss
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA6904253

rs_760489970

3 SubmittersRCV001374649 RCV003558824 RCV003232335

NM_004004.6(GJB2):c.238C>A (p.Gln80Lys)

SNV
Germline

Chr13:20189344

Likely pathogenic

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA387461563

rs_199883710

2 SubmittersRCV001379119 RCV005438075

NM_004004.6(GJB2):c.409A>C (p.Thr137Pro)

SNV
Germline

Chr13:20189173

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 1A

No Assertion Criteria Provided

CA387461208

rs_2137307658

1 SubmittersRCV001822874

NM_004004.6(GJB2):c.157T>A (p.Cys53Ser)

SNV
Germline

Chr13:20189425

Pathogenic

Autosomal recessive nonsyndromic hearing loss 1A

No Assertion Criteria Provided

CA387461767

rs_1555341986

1 SubmittersRCV002051744

NM_004004.6(GJB2):c.232G>A (p.Ala78Thr)

SNV
Germline

Chr13:20189350

Pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided

Criteria Provided
Single Submitter

CA387461574

rs_1959060696

2 SubmittersRCV002051745 RCV003558849

NM_004004.6(GJB2):c.126G>T (p.Glu42Asp)

SNV
Germline

Chr13:20189456

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6904314

rs_535635403

3 SubmittersRCV001810543 RCV002541486 RCV003235601

NM_001110219.3(GJB6):c.223C>T (p.Arg75Trp)

SNV
Germline

Chr13:20223258

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 1A
Autosomal dominant nonsyndromic hearing loss 3B
Autosomal recessive nonsyndromic hearing loss 1B
Hidrotic ectodermal dysplasia syndrome
Autosomal dominant nonsyndromic hearing loss 3B
not specified

Criteria Provided
Conflicting Classifications

CA387468573

rs_2137333664

3 SubmittersRCV002007632 RCV004571869 RCV006269536

NM_024009.3(GJB3):c.667C>A (p.Pro223Thr)

SNV
Germline

Chr1:34785429

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 1A
GJB3-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA754881

rs_373815705

5 SubmittersRCV001888944 RCV004584932 RCV004752087 RCV004801077

NM_004004.6(GJB2):c.464A>G (p.Tyr155Cys)

SNV
Germline

Chr13:20189118

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 1A

Criteria Provided
Conflicting Classifications

CA6904263

rs_776335807

3 SubmittersRCV002254101 RCV004785544

NM_004004.6(GJB2):c.399G>A (p.Trp133Ter)

SNV
Germline

Chr13:20189183

Pathogenic

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA246460171

rs_777225786

2 SubmittersRCV003560933 RCV004577374

NM_004004.6(GJB2):c.456C>G (p.Tyr152Ter)

SNV
Germline

Chr13:20189126

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA387461108

rs_111033420

3 SubmittersRCV003062562 RCV004796760

NM_004004.6(GJB2):c.195C>A (p.Tyr65Ter)

SNV
Germline

Chr13:20189387

Pathogenic

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 1A
GJB2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA387461649

rs_763572195

3 SubmittersRCV003058405 RCV005869992 RCV006270568

NM_004004.6(GJB2):c.388G>C (p.Gly130Arg)

SNV
Germline

Chr13:20189194

Likely pathogenic

Autosomal dominant nonsyndromic hearing loss 3A
Autosomal recessive nonsyndromic hearing loss 1A

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004788498 RCV005052910

NM_004004.6(GJB2):c.614T>C (p.Leu205Pro)

SNV
Germline

Chr13:20188968

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 1A

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005003835 RCV005241066

NM_004004.6(GJB2):c.236T>A (p.Leu79Gln)

SNV
Germline

Chr13:20189346

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 1A

Criteria Provided
Single Submitter

1 SubmittersRCV005053065

NM_004004.6(GJB2):c.420C>G (p.Ile140Met)

SNV
Germline

Chr13:20189162

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 1A

Criteria Provided
Single Submitter

1 SubmittersRCV005053066

NM_004004.6(GJB2):c.626A>C (p.Glu209Ala)

SNV
Germline

Chr13:20188956

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 1A

Criteria Provided
Single Submitter

1 SubmittersRCV005053069

NM_004004.6(GJB2):c.72G>C (p.Trp24Cys)

SNV
Germline

Chr13:20189510

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 1A

Criteria Provided
Single Submitter

1 SubmittersRCV005053070

NM_004004.6(GJB2):c.8G>A (p.Trp3Ter)

SNV
Germline

Chr13:20189574

Pathogenic

Autosomal recessive nonsyndromic hearing loss 1A

Criteria Provided
Single Submitter

1 SubmittersRCV005053071

NM_004004.6(GJB2):c.113T>A (p.Val38Glu)

SNV
Germline

Chr13:20189469

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 1A

Criteria Provided
Single Submitter

1 SubmittersRCV005431017

NM_004004.6(GJB2):c.346A>T (p.Lys116Ter)

SNV
Germline

Chr13:20189236

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 1A

Criteria Provided
Single Submitter

1 SubmittersRCV005431018

NM_004004.6(GJB2):c.279G>C (p.Met93Ile)

SNV
Germline

Chr13:20189303

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 1A

Criteria Provided
Single Submitter

1 SubmittersRCV006270153

NM_001110219.3(GJB6):c.31G>C (p.Gly11Arg)

SNV
Germline

Chr13:20223450

Pathogenic

Autosomal dominant nonsyndromic hearing loss 3B
Hidrotic ectodermal dysplasia syndrome
Autosomal recessive nonsyndromic hearing loss 1B
Autosomal recessive nonsyndromic hearing loss 1A

Criteria Provided
Single Submitter

1 SubmittersRCV006598413