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 Autosomal dominant nonsyndromic hearing loss 3B Autosomal recessive nonsyndromic hearing loss 1A Hidrotic ectodermal dysplasia syndrome Autosomal recessive nonsyndromic hearing loss 1B Autosomal dominant nonsyndromic hearing loss 3B X-linked mixed hearing loss with perilymphatic gusher Autosomal recessive nonsyndromic hearing loss 1A Hidrotic ectodermal dysplasia syndrome Autosomal recessive nonsyndromic hearing loss 1B GJB6-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA253526	rs_104894415	11 SubmittersRCV000005882 RCV000255581 RCV000645727 RCV000762909 RCV003335016
NM_001110219.3(GJB6):c.263C>T (p.Ala88Val)	SNV Germline	Chr13:20223218	Pathogenic	Hidrotic ectodermal dysplasia syndrome Autosomal dominant nonsyndromic hearing loss 3B Autosomal recessive nonsyndromic hearing loss 1A Hidrotic ectodermal dysplasia syndrome Autosomal recessive nonsyndromic hearing loss 1B Autosomal dominant nonsyndromic hearing loss 3B X-linked mixed hearing loss with perilymphatic gusher Autosomal recessive nonsyndromic hearing loss 1A Hidrotic ectodermal dysplasia syndrome Autosomal recessive nonsyndromic hearing loss 1B	Criteria Provided Multiple Submitters No Conflicts	CA253528	rs_28937872	4 SubmittersRCV000005883 RCV000798432 RCV002504751
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 Rare genetic deafness Autosomal recessive nonsyndromic hearing loss 1A Autosomal recessive nonsyndromic hearing loss 1B 7 conditions Inborn genetic diseases Nonsyndromic Deafness Hearing impairment See cases GJB2-related disorder Autosomal dominant keratitis-ichthyosis-hearing loss syndrome Autosomal recessive nonsyndromic hearing loss 1A Autosomal dominant nonsyndromic hearing loss 3A	Reviewed By Expert Panel	CA172206	rs_35887622	42 SubmittersRCV000018523 RCV000080364 RCV000211758 RCV000487479 RCV000678866 RCV000844701 RCV001004397 RCV001027827 RCV001266565 RCV001270137 RCV001375142 RCV002251910 RCV004724749 RCV004783726 RCV004700251
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 1A Autosomal recessive nonsyndromic hearing loss 1B Hearing loss, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA341437	rs_80338944	17 SubmittersRCV000018524 RCV000211767 RCV000711349 RCV000762904 RCV001004393 RCV001291332
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 8 conditions Hearing loss Rare genetic deafness Autosomal recessive nonsyndromic hearing loss 1A Autosomal recessive nonsyndromic hearing loss 1B Ichthyosis, hystrix-like, with hearing loss Hearing loss, autosomal recessive Mutilating keratoderma Palmoplantar keratoderma-deafness syndrome GJB2-related disorder Hereditary palmoplantar keratoderma	Reviewed By Expert Panel	CA172240	rs_104894396	42 SubmittersRCV000018525 RCV000146028 RCV000211778 RCV000255370 RCV000411010 RCV000515359 RCV000678864 RCV000844631 RCV001004398 RCV001112641 RCV001291329 RCV002247354 RCV003388568 RCV004734522 RCV004798735
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)	SNV Germline	Chr13:20189353	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided Rare genetic deafness Autosomal dominant nonsyndromic hearing loss 3A Autosomal recessive nonsyndromic hearing loss 1A Autosomal recessive nonsyndromic hearing loss 1B Nonsyndromic genetic hearing loss Hearing impairment 8 conditions GJB2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA222246	rs_104894397	19 SubmittersRCV000018526 RCV000080368 RCV000211765 RCV000412297 RCV001004394 RCV001257039 RCV001526518 RCV002496399 RCV004532383
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)	SNV Germline	Chr13:20189443	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Rare genetic deafness Condition: not provided 8 conditions Hearing impairment Hearing loss GJB2-related disorder Nonsyndromic genetic hearing loss	Criteria Provided Multiple Submitters No Conflicts	CA172213	rs_104894398	26 SubmittersRCV000018529 RCV000211760 RCV000080366 RCV000515308 RCV000146008 RCV000678867 RCV004734523 RCV001257036
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)	SNV Germline	Chr13:20189031	Conflicting classifications of pathogenicity	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	Criteria Provided Conflicting Classifications	CA341438	rs_80338950	18 SubmittersRCV000018531 RCV000211781 RCV000678888 RCV000657913 RCV000763321 RCV001112462 RCV001257160
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)	SNV Germline	Chr13:20189155	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Hearing loss 7 conditions Autosomal dominant nonsyndromic hearing loss 3A Hearing impairment Condition: not provided 8 conditions GJB2-related disorder Rare genetic deafness Nonsyndromic genetic hearing loss	Criteria Provided Multiple Submitters No Conflicts	CA172234	rs_80338948	27 SubmittersRCV000018533 RCV000678885 RCV001027826 RCV001196233 RCV000146023 RCV000255157 RCV000515418 RCV004532385 RCV000211779 RCV001257564
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)	SNV Germline	Chr13:20189313	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided Hearing impairment Rare genetic deafness Autosomal dominant nonsyndromic hearing loss 3A 8 conditions Hearing loss Autosomal recessive nonsyndromic hearing loss 1A Autosomal recessive nonsyndromic hearing loss 1B Ichthyosis, hystrix-like, with hearing loss Nonsyndromic genetic hearing loss Deafness See cases 7 conditions GJB2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA172219	rs_80338945	42 SubmittersRCV000018541 RCV000080369 RCV000146013 RCV000211772 RCV000409625 RCV000515450 RCV000678875 RCV001004391 RCV001109788 RCV001257157 RCV001775068 RCV002227041 RCV003224102 RCV004734524
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	Criteria Provided Multiple Submitters No Conflicts	CA257677	rs_104894401	10 SubmittersRCV000018543 RCV000018542 RCV000484997
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 8 conditions Autosomal dominant nonsyndromic hearing loss 3A Autosomal recessive nonsyndromic hearing loss 1A Autosomal recessive nonsyndromic hearing loss 1B Nonsyndromic Deafness Inborn genetic diseases GJB2-related disorder GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss Hearing loss, autosomal recessive 7 conditions	Reviewed By Expert Panel	CA172210	rs_72474224	50 SubmittersRCV000018550 RCV000080365 RCV000146005 RCV000211759 RCV000515287 RCV001002768 RCV001004396 RCV001270106 RCV002514109 RCV003335045 RCV003458337 RCV004699117 RCV004795923
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 Hereditary palmoplantar keratoderma Nonsyndromic genetic hearing loss Hearing loss, autosomal recessive Nonsyndromic Deafness	Criteria Provided Multiple Submitters No Conflicts	CA127030	rs_28931593	9 SubmittersRCV000018554 RCV000018555 RCV000211764 RCV000210858 RCV000254728 RCV001257038 RCV001291331 RCV004771802
NM_004004.6(GJB2):c.-23+1G>A	SNV Germline	Chr13:20192782	Pathogenic/Likely pathogenic	Condition: not provided Rare genetic deafness Hearing loss Autosomal recessive nonsyndromic hearing loss 104 8 conditions Hearing loss, autosomal recessive Autosomal recessive nonsyndromic hearing loss 1A Hereditary palmoplantar keratoderma Hearing impairment Autosomal recessive nonsyndromic hearing loss 1B Autosomal recessive nonsyndromic hearing loss 1A Nonsyndromic genetic hearing loss Ear malformation Autosomal dominant nonsyndromic hearing loss 3A GJB2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA172205	rs_80338940	38 SubmittersRCV000418755 RCV000211766 RCV000678858 RCV003458323 RCV000762908 RCV001291328 RCV000018557 RCV004798737 RCV000146002 RCV001004401 RCV001257033 RCV001813995 RCV003147300 RCV004532386
NM_004004.6(GJB2):c.250G>C (p.Val84Leu)	SNV Germline	Chr13:20189332	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Hearing impairment 8 conditions Rare genetic deafness Condition: not provided Nonsyndromic genetic hearing loss GJB2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA172218	rs_104894409	16 SubmittersRCV000018560 RCV000146012 RCV002504805 RCV000211770 RCV001041795 RCV001257042 RCV003335046
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu)	SNV Germline	Chr13:20189448	Pathogenic/Likely pathogenic	Autosomal dominant keratitis-ichthyosis-hearing loss syndrome Condition: not provided Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Multiple Submitters No Conflicts	CA127033	rs_72561723	6 SubmittersRCV000018561 RCV001851914 RCV000022510
NM_004004.6(GJB2):c.250G>A (p.Val84Met)	SNV Germline	Chr13:20189332	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Rare genetic deafness Condition: not provided Autosomal dominant nonsyndromic hearing loss 3A Progressive sensorineural hearing impairment GJB2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA257683	rs_104894409	10 SubmittersRCV000018564 RCV000211769 RCV000254760 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 8 conditions GJB2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA172228	rs_1801002	18 SubmittersRCV000020570 RCV000146020 RCV000211720 RCV000412324 RCV000711351 RCV001257034 RCV002504816 RCV004734527
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	Criteria Provided Conflicting Classifications	CA134981	rs_80338949	12 SubmittersRCV000020573 RCV000037860 RCV001092709 RCV001257048 RCV001375209 RCV001787816
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr)	SNV Germline	Chr13:20189526	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Rare genetic deafness Hearing loss Condition: not provided Nonsyndromic genetic hearing loss	Reviewed By Expert Panel	CA342005	rs_80338941	10 SubmittersRCV000020575 RCV000602210 RCV000678862 RCV000757333 RCV001257035
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)	SNV Germline	Chr13:20189031	Pathogenic/Likely 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	17 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	11 SubmittersRCV000037802 RCV000296648 RCV000344717 RCV000586188 RCV000674792 RCV001257161 RCV004734551
NM_004004.6(GJB2):c.*3C>A	SNV Germline	Chr13:20188898	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	CA134941	rs_111033460	7 SubmittersRCV000037803 RCV000375828 RCV000350337 RCV000505513 RCV000757330
NM_004004.6(GJB2):c.-45C>A	SNV Germline	Chr13:20192805	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided	Criteria Provided Conflicting Classifications	CA134945	rs_397516868	8 SubmittersRCV000037808 RCV000375249 RCV001727531
NM_004004.6(GJB2):c.-6T>A	SNV Germline	Chr13:20189587	Conflicting classifications of pathogenicity	not specified Autosomal dominant nonsyndromic hearing loss 3A Autosomal recessive nonsyndromic hearing loss 1A 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 RCV000336963 RCV000311687 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 dominant nonsyndromic hearing loss 3A Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided	Criteria Provided Conflicting Classifications	CA134947	rs_111033222	15 SubmittersRCV000037814 RCV000290549 RCV000345561 RCV000321209 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 8 conditions GJB2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA261637	rs_111033297	13 SubmittersRCV000211761 RCV000505512 RCV000711347 RCV000678870 RCV002496600 RCV004534804
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	Criteria Provided Conflicting Classifications	CA261639	rs_111033203	5 SubmittersRCV000037819 RCV001731333 RCV001826561 RCV004526604
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	Criteria Provided Multiple Submitters No Conflicts	CA261641	rs_111033451	7 SubmittersRCV000037820 RCV000211718 RCV000624822 RCV001389832
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	Reviewed By Expert Panel	CA198806	rs_111033293	12 SubmittersRCV000037821 RCV000211762 RCV000724654 RCV000762907 RCV003990963
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	Criteria Provided Multiple Submitters No Conflicts	CA172220	rs_111033299	16 SubmittersRCV000037834 RCV000146014 RCV000211719 RCV000515247 RCV000516830 RCV001257560 RCV004734552
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 8 conditions Rare genetic deafness Autosomal recessive nonsyndromic hearing loss 1A Autosomal recessive nonsyndromic hearing loss 1B Mutilating keratoderma 7 conditions GJB2-related disorder	Reviewed By Expert Panel	CA172224	rs_104894408	18 SubmittersRCV000037839 RCV000080371 RCV000146017 RCV000410006 RCV000411497 RCV000678859 RCV000762906 RCV000844703 RCV001004399 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	Criteria Provided Multiple Submitters No Conflicts	CA172230	rs_111033295	13 SubmittersRCV000037844 RCV000146021 RCV000211721 RCV000412394 RCV000678882 RCV000757331 RCV000999926 RCV004018850
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	9 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 Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided Autosomal dominant nonsyndromic hearing loss 3A 8 conditions Hearing loss Autosomal recessive nonsyndromic hearing loss 1A Autosomal recessive nonsyndromic hearing loss 1B	Criteria Provided Multiple Submitters No Conflicts	CA172232	rs_76434661	24 SubmittersRCV000037851 RCV000146022 RCV000289146 RCV000255015 RCV000409236 RCV000515309 RCV000678884 RCV001004388
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 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA261649	rs_111033217	9 SubmittersRCV000037855 RCV000211780 RCV000490112 RCV002490513
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 Condition: not provided Autosomal recessive nonsyndromic hearing loss 1A 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 RCV000587337 RCV000674006 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	Criteria Provided Conflicting Classifications	CA134983	rs_111033360	5 SubmittersRCV000037861 RCV000665938 RCV000991849
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 8 conditions Condition: not provided Autosomal recessive nonsyndromic hearing loss 1A Autosomal recessive nonsyndromic hearing loss 1B Nonsyndromic genetic hearing loss GJB2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA172236	rs_111033294	17 SubmittersRCV000037868 RCV000146025 RCV000211783 RCV000515258 RCV000724546 RCV001004386 RCV001257566 RCV004734554
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	Criteria Provided Multiple Submitters No Conflicts	CA261654	rs_111033190	10 SubmittersRCV000037873 RCV000410025 RCV000411577 RCV001218538 RCV001374640 RCV004534808
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 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	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 Autosomal recessive nonsyndromic hearing loss 1A Hidrotic ectodermal dysplasia syndrome Autosomal recessive nonsyndromic hearing loss 1B Hidrotic ectodermal dysplasia syndrome	Criteria Provided Conflicting Classifications	CA136461	rs_35002004	6 SubmittersRCV000038708 RCV000723451 RCV001080917 RCV001110053
NM_000082.4(ERCC8):c.478G>A (p.Ala160Thr)	SNV Germline	Chr5:60904795	Conflicting classifications of pathogenicity	Condition: not provided Cockayne syndrome type 1 Cockayne syndrome Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Conflicting Classifications	CA219850	rs_281875222	3 SubmittersRCV000059646 RCV000664947 RCV004525867 RCV004542735
NM_004004.6(GJB2):c.298C>T (p.His100Tyr)	SNV Germline	Chr13:20189284	Pathogenic/Likely pathogenic	Rare genetic deafness Hearing impairment Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided GJB2-related disorder Hearing loss nonsyndromic sensorineural hearing loss	Criteria Provided Multiple Submitters No Conflicts	CA172221	rs_143343083	15 SubmittersRCV000215444 RCV000146015 RCV000169347 RCV000798119 RCV004734702 RCV000678877 RCV001374647
NM_004004.6(GJB2):c.132G>A (p.Trp44Ter)	SNV Germline	Chr13:20189450	Pathogenic	Hearing impairment Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA172211	rs_104894407	9 SubmittersRCV000146007 RCV000984267 RCV000593364
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.239A>C (p.Gln80Pro)	SNV Germline	Chr13:20189343	Pathogenic/Likely pathogenic	Rare genetic deafness Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA273446	rs_727504302	6 SubmittersRCV000154345 RCV000505508 RCV001288584
NM_004004.6(GJB2):c.188T>C (p.Val63Ala)	SNV Germline	Chr13:20189394	Conflicting classifications of pathogenicity	not specified 8 conditions Condition: not provided Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Conflicting Classifications	CA180700	rs_727504309	8 SubmittersRCV000154364 RCV000765115 RCV000711348 RCV001271875
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	9 SubmittersRCV000169112 RCV000505951 RCV000790715
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys)	SNV Germline	Chr13:20189227	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 1A not specified Condition: not provided Autosomal dominant nonsyndromic hearing loss 3A Ichthyosis, hystrix-like, with hearing loss Hearing loss Sensorineural hearing loss disorder	Criteria Provided Conflicting Classifications	CA273833	rs_150529554	12 SubmittersRCV000278504 RCV000757332 RCV001288924 RCV000336897 RCV000407574 RCV000678880 RCV001175238
NM_004004.6(GJB2):c.598G>T (p.Gly200Ter)	SNV Germline	Chr13:20188984	Pathogenic/Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Multiple Submitters No Conflicts	CA274205	rs_786204597	2 SubmittersRCV000169350
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe)	SNV Germline	Chr13:20188986	Pathogenic/Likely 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	11 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	3 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	Criteria Provided Multiple Submitters No Conflicts	CA273919	rs_781534323	7 SubmittersRCV000169070 RCV001207124 RCV001257041 RCV004528922
NM_004004.6(GJB2):c.230G>A (p.Trp77Ter)	SNV Germline	Chr13:20189352	Pathogenic/Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Rare genetic deafness Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274460	rs_104894395	4 SubmittersRCV000169604 RCV000218259 RCV001382072
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)	SNV Germline	Chr13:20189451	Pathogenic/Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 1A 8 conditions Condition: not provided Inborn genetic diseases GJB2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA274012	rs_104894413	16 SubmittersRCV000169176 RCV000515211 RCV000517231 RCV000624765 RCV004734765
NM_004004.6(GJB2):c.119C>G (p.Ala40Gly)	SNV Unknown	Chr13:20189463	Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Single Submitter	CA274135	rs_111033296	1 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	Criteria Provided Multiple Submitters No Conflicts	CA273921	rs_371024165	11 SubmittersRCV000169075 RCV000614720 RCV000724651 RCV001001448
NM_004004.6(GJB2):c.-23G>T	SNV Germline	Chr13:20192783	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 1A Rare genetic deafness Nonsyndromic genetic hearing loss Hearing loss	Criteria Provided Conflicting Classifications	CA274431	rs_786204734	6 SubmittersRCV000169581 RCV000220459 RCV001290620 RCV000678857
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	9 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	Ichthyosis, hystrix-like, with hearing loss Autosomal dominant nonsyndromic hearing loss 3A Condition: not provided Autosomal recessive nonsyndromic hearing loss 1A not specified	Criteria Provided Conflicting Classifications	CA241523	rs_561870637	6 SubmittersRCV000313189 RCV000367888 RCV000586445 RCV000263886 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 recessive nonsyndromic hearing loss 1A Autosomal dominant nonsyndromic hearing loss 3B Hidrotic ectodermal dysplasia syndrome Autosomal recessive nonsyndromic hearing loss 1B 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/Likely pathogenic	Autosomal dominant nonsyndromic hearing loss 3A Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA357244	rs_786204597	5 SubmittersRCV000411925 RCV000210857 RCV001853379
NM_004004.6(GJB2):c.385G>T (p.Glu129Ter)	SNV Germline	Chr13:20189197	Pathogenic/Likely 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 dominant nonsyndromic hearing loss 3A Autosomal recessive nonsyndromic hearing loss 1A 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	10 SubmittersRCV000490342 RCV000505510 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 Autosomal dominant nonsyndromic hearing loss 3B X-linked mixed hearing loss with perilymphatic gusher Hidrotic ectodermal dysplasia syndrome 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 recessive nonsyndromic hearing loss 1A Autosomal dominant nonsyndromic hearing loss 3A Condition: not provided	Criteria Provided Conflicting Classifications	CA10576937	rs_779018464	4 SubmittersRCV000213896 RCV000411886 RCV000409464 RCV001853423
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	Criteria Provided Conflicting Classifications	CA6904347	rs_141962118	13 SubmittersRCV000219387 RCV000590691 RCV001109961 RCV001109963 RCV001109962 RCV004532756
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 recessive nonsyndromic hearing loss 1B Autosomal dominant nonsyndromic hearing loss 3B Hidrotic ectodermal dysplasia syndrome 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 Erythrokeratodermia variabilis et progressiva 1 Autosomal recessive nonsyndromic hearing loss 1A Autosomal dominant nonsyndromic hearing loss 2B	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 dominant nonsyndromic hearing loss 3B Autosomal recessive nonsyndromic hearing loss 1A Hidrotic ectodermal dysplasia syndrome Autosomal recessive nonsyndromic hearing loss 1B 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	Ichthyosis, hystrix-like, with hearing loss Autosomal recessive nonsyndromic hearing loss 1A Autosomal dominant nonsyndromic hearing loss 3A	Criteria Provided Conflicting Classifications	CA10639102	rs_185790172	1 SubmittersRCV000281101 RCV000287144 RCV000373371
NM_004004.6(GJB2):c.*1016A>G	SNV Germline	Chr13:20187885	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 3A Autosomal recessive nonsyndromic hearing loss 1A Ichthyosis, hystrix-like, with hearing loss	Criteria Provided Conflicting Classifications	CA10639103	rs_537683957	1 SubmittersRCV000306675 RCV000404244 RCV000404968
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	Criteria Provided Conflicting Classifications	CA6904298	rs_145216882	2 SubmittersRCV000280037 RCV000340839 RCV000671813
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 dominant nonsyndromic hearing loss 3B Autosomal recessive nonsyndromic hearing loss 1A Hidrotic ectodermal dysplasia syndrome Autosomal recessive nonsyndromic hearing loss 1B 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/Likely pathogenic	Rare genetic deafness Autosomal recessive nonsyndromic hearing loss 1A Autosomal dominant nonsyndromic hearing loss 3A Condition: not provided Nonsyndromic genetic hearing loss not specified GJB2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA6904269	rs_767178508	12 SubmittersRCV000825565 RCV000409580 RCV000411084 RCV000488996 RCV001257565 RCV000506862 RCV004735500
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	Criteria Provided Multiple Submitters No Conflicts	CA6904300	rs_199883710	4 SubmittersRCV000410120 RCV000412105 RCV001054602 RCV004767246
NM_004004.6(GJB2):c.59T>C (p.Ile20Thr)	SNV Germline	Chr13:20189523	Pathogenic/Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Autosomal dominant nonsyndromic hearing loss 3A Hearing loss Nonsyndromic genetic hearing loss Condition: not provided nonsyndromic sensorineural hearing loss	Criteria Provided Multiple Submitters No Conflicts	CA16041595	rs_1057517519	7 SubmittersRCV000410601 RCV000411693 RCV000678863 RCV001257156 RCV001234615 RCV001374656
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	Reviewed By Expert Panel	CA6904336	rs_371086981	7 SubmittersRCV000409687 RCV000410366 RCV000991847 RCV001171533 RCV004530500
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	Criteria Provided Conflicting Classifications	CA16042821	rs_1057517976	4 SubmittersRCV000412967 RCV000666314
NM_004004.6(GJB2):c.-22-2A>C	SNV Germline	Chr13:20189605	Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided not specified Nonsyndromic genetic hearing loss Autosomal dominant nonsyndromic hearing loss 3A Ichthyosis, hystrix-like, with hearing loss 8 conditions GJB2-related disorder	Reviewed By Expert Panel	CA6904346	rs_201895089	20 SubmittersRCV000416425 RCV000579320 RCV000507029 RCV000710316 RCV001109960 RCV001109959 RCV002481293 RCV004530519
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	Criteria Provided Conflicting Classifications	CA387460847	rs_570552952	3 SubmittersRCV000505530 RCV001857234
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 Nonsyndromic genetic hearing loss	Reviewed By Expert Panel	CA387460849	rs_1378679640	5 SubmittersRCV000505521 RCV000731139 RCV003387862 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	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 1A Autosomal dominant nonsyndromic hearing loss 3A Ichthyosis, hystrix-like, with hearing loss Condition: not provided	Criteria Provided Conflicting Classifications	CA6904326	rs_749693224	5 SubmittersRCV000505534 RCV001112642 RCV001112643 RCV001857232
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	Reviewed By Expert Panel	CA6904317	rs_141774369	6 SubmittersRCV000520583 RCV000826112 RCV000855645 RCV001252676
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	Criteria Provided Conflicting Classifications	CA387461474	rs_1250849257	4 SubmittersRCV000589231 RCV001834858
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 dominant nonsyndromic hearing loss 3B Hidrotic ectodermal dysplasia syndrome Autosomal recessive nonsyndromic hearing loss 1A 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	8 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		rs_568612627	5 SubmittersRCV000665870 RCV001218684 RCV001779042
NM_004004.6(GJB2):c.514T>A (p.Trp172Arg)	SNV Germline	Chr13:20189068	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided	Criteria Provided Conflicting Classifications		rs_770330002	2 SubmittersRCV000673989 RCV001861830
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		rs_111033293	3 SubmittersRCV000665536 RCV003660822 RCV003991034
NM_004004.6(GJB2):c.133G>A (p.Gly45Arg)	SNV Germline	Chr13:20189449	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Conflicting Classifications		rs_1326514987	4 SubmittersRCV000825343 RCV001861812 RCV000672597
NM_004004.6(GJB2):c.415A>T (p.Ser139Cys)	SNV Germline	Chr13:20189167	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided	Criteria Provided Conflicting Classifications		rs_1555341907	2 SubmittersRCV000668607 RCV002531202
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 Multiple Submitters No Conflicts		rs_769486081	2 SubmittersRCV000670427 RCV002531252
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	Reviewed By Expert Panel		rs_371086981	3 SubmittersRCV000667085 RCV003688870 RCV003991035
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	Criteria Provided Conflicting Classifications		rs_28931595	2 SubmittersRCV000665713 RCV001855444
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser)	SNV Germline	Chr13:20189488	Pathogenic/Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 1A 8 conditions Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_371024165	4 SubmittersRCV000664869 RCV000762905 RCV001861739
NM_004004.6(GJB2):c.550C>T (p.Arg184Trp)	SNV Germline	Chr13:20189032	Pathogenic	Hearing loss Autosomal dominant nonsyndromic hearing loss 3A Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided Mutilating keratoderma	Criteria Provided Multiple Submitters No Conflicts		rs_998045226	7 SubmittersRCV000678887 RCV001078465 RCV001089546 RCV001390263 RCV002249403
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		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		rs_1302739538	2 SubmittersRCV000721943 RCV001004778
NM_024009.3(GJB3):c.8G>A (p.Trp3Ter)	SNV Germline	Chr1:34784770	Pathogenic	Autosomal recessive nonsyndromic hearing loss 1A	No Assertion Criteria Provided		rs_1557659237	1 SubmittersRCV000770824
NM_004004.6(GJB2):c.257C>G (p.Thr86Arg)	SNV Germline	Chr13:20189325	Pathogenic/Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided Autosomal dominant nonsyndromic hearing loss 3A nonsyndromic sensorineural hearing loss Nonsyndromic genetic hearing loss	Criteria Provided Multiple Submitters No Conflicts		rs_1291519904	7 SubmittersRCV000778387 RCV001784383 RCV001113901 RCV001374648 RCV003317365
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		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		rs_768130937	4 SubmittersRCV000779131 RCV001112644 RCV001112645 RCV001193185
NM_004004.6(GJB2):c.510C>T (p.Asn170=)	SNV Germline	Chr13:20189072	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided Ichthyosis, hystrix-like, with hearing loss Autosomal dominant nonsyndromic hearing loss 3A not specified GJB2-related disorder	Criteria Provided Conflicting Classifications		rs_763068053	6 SubmittersRCV001113812 RCV001436900 RCV001113810 RCV001113811 RCV000781417 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		rs_1422767764	3 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		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 Autosomal recessive nonsyndromic hearing loss 1B Autosomal recessive nonsyndromic hearing loss 1A Autosomal dominant nonsyndromic hearing loss 3B Hidrotic ectodermal dysplasia syndrome	Criteria Provided Conflicting Classifications		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		rs_1959056736	2 SubmittersRCV001044753 RCV004789378
NM_004004.6(GJB2):c.196G>A (p.Asp66Asn)	SNV Germline	Chr13:20189386	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		rs_104894403	3 SubmittersRCV001109875 RCV001109876 RCV001109877 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		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 recessive nonsyndromic hearing loss 1B Autosomal dominant nonsyndromic hearing loss 3B Autosomal recessive nonsyndromic hearing loss 1A Hidrotic ectodermal dysplasia syndrome	Criteria Provided Conflicting Classifications		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		rs_1476034902	3 SubmittersRCV001204537 RCV004768913
NM_004004.6(GJB2):c.505T>C (p.Cys169Arg)	SNV Germline	Chr13:20189077	Likely pathogenic	nonsyndromic sensorineural hearing loss Autosomal recessive nonsyndromic hearing loss 1A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_760489970	3 SubmittersRCV001374649 RCV003232335 RCV003558824
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		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		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		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		rs_535635403	3 SubmittersRCV001810543 RCV002541486 RCV003235601
NM_001110219.3(GJB6):c.223C>T (p.Arg75Trp)	SNV Germline	Chr13:20223258	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 3B Hidrotic ectodermal dysplasia syndrome Autosomal recessive nonsyndromic hearing loss 1A Autosomal recessive nonsyndromic hearing loss 1B Autosomal dominant nonsyndromic hearing loss 3B	Criteria Provided Conflicting Classifications		rs_2137333664	2 SubmittersRCV002007632 RCV004571869
NM_024009.3(GJB3):c.667C>A (p.Pro223Thr)	SNV Germline	Chr1:34785429	Conflicting classifications of pathogenicity	Condition: not provided GJB3-related disorder not specified Autosomal recessive nonsyndromic hearing loss 1A	Criteria Provided Conflicting Classifications		rs_373815705	5 SubmittersRCV001888944 RCV004752087 RCV004801077 RCV004584932
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		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			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			3 SubmittersRCV003062562 RCV004796760

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

SNV
Germline

Chr13:20223450

Pathogenic

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
Autosomal dominant nonsyndromic hearing loss 3B
X-linked mixed hearing loss with perilymphatic gusher
Autosomal recessive nonsyndromic hearing loss 1A
Hidrotic ectodermal dysplasia syndrome
Autosomal recessive nonsyndromic hearing loss 1B
GJB6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA253526

rs_104894415

11 SubmittersRCV000005882 RCV000255581 RCV000645727 RCV000762909 RCV003335016

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

SNV
Germline

Chr13:20223218

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA253528

rs_28937872

4 SubmittersRCV000005883 RCV000798432 RCV002504751

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
Rare genetic deafness
Autosomal recessive nonsyndromic hearing loss 1A
Autosomal recessive nonsyndromic hearing loss 1B
7 conditions
Inborn genetic diseases
Nonsyndromic Deafness
Hearing impairment
See cases
GJB2-related disorder
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
Autosomal recessive nonsyndromic hearing loss 1A
Autosomal dominant nonsyndromic hearing loss 3A

Reviewed By Expert Panel

CA172206

rs_35887622

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

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 1A
Autosomal recessive nonsyndromic hearing loss 1B
Hearing loss, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA341437

rs_80338944

17 SubmittersRCV000018524 RCV000211767 RCV000711349 RCV000762904 RCV001004393 RCV001291332

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
8 conditions
Hearing loss
Rare genetic deafness
Autosomal recessive nonsyndromic hearing loss 1A
Autosomal recessive nonsyndromic hearing loss 1B
Ichthyosis, hystrix-like, with hearing loss
Hearing loss, autosomal recessive
Mutilating keratoderma
Palmoplantar keratoderma-deafness syndrome
GJB2-related disorder
Hereditary palmoplantar keratoderma

Reviewed By Expert Panel

CA172240

rs_104894396

42 SubmittersRCV000018525 RCV000146028 RCV000211778 RCV000255370 RCV000411010 RCV000515359 RCV000678864 RCV000844631 RCV001004398 RCV001112641 RCV001291329 RCV002247354 RCV003388568 RCV004734522 RCV004798735

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

SNV
Germline

Chr13:20189353

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA222246

rs_104894397

19 SubmittersRCV000018526 RCV000080368 RCV000211765 RCV000412297 RCV001004394 RCV001257039 RCV001526518 RCV002496399 RCV004532383

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

SNV
Germline

Chr13:20189443

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA172213

rs_104894398

26 SubmittersRCV000018529 RCV000211760 RCV000080366 RCV000515308 RCV000146008 RCV000678867 RCV004734523 RCV001257036

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

SNV
Germline

Chr13:20189031

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA341438

rs_80338950

18 SubmittersRCV000018531 RCV000211781 RCV000678888 RCV000657913 RCV000763321 RCV001112462 RCV001257160

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

SNV
Germline

Chr13:20189155

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA172234

rs_80338948

27 SubmittersRCV000018533 RCV000678885 RCV001027826 RCV001196233 RCV000146023 RCV000255157 RCV000515418 RCV004532385 RCV000211779 RCV001257564

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

SNV
Germline

Chr13:20189313

Pathogenic

Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided
Hearing impairment
Rare genetic deafness
Autosomal dominant nonsyndromic hearing loss 3A
8 conditions
Hearing loss
Autosomal recessive nonsyndromic hearing loss 1A
Autosomal recessive nonsyndromic hearing loss 1B
Ichthyosis, hystrix-like, with hearing loss
Nonsyndromic genetic hearing loss
Deafness
See cases
7 conditions
GJB2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA172219

rs_80338945

42 SubmittersRCV000018541 RCV000080369 RCV000146013 RCV000211772 RCV000409625 RCV000515450 RCV000678875 RCV001004391 RCV001109788 RCV001257157 RCV001775068 RCV002227041 RCV003224102 RCV004734524

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

Criteria Provided
Multiple Submitters
No Conflicts

CA257677

rs_104894401

10 SubmittersRCV000018543 RCV000018542 RCV000484997

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
8 conditions
Autosomal dominant nonsyndromic hearing loss 3A
Autosomal recessive nonsyndromic hearing loss 1A
Autosomal recessive nonsyndromic hearing loss 1B
Nonsyndromic Deafness
Inborn genetic diseases
GJB2-related disorder
GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss
Hearing loss, autosomal recessive
7 conditions

Reviewed By Expert Panel

CA172210

rs_72474224

50 SubmittersRCV000018550 RCV000080365 RCV000146005 RCV000211759 RCV000515287 RCV001002768 RCV001004396 RCV001270106 RCV002514109 RCV003335045 RCV003458337 RCV004699117 RCV004795923

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
Hereditary palmoplantar keratoderma
Nonsyndromic genetic hearing loss
Hearing loss, autosomal recessive
Nonsyndromic Deafness

Criteria Provided
Multiple Submitters
No Conflicts

CA127030

rs_28931593

9 SubmittersRCV000018554 RCV000018555 RCV000211764 RCV000210858 RCV000254728 RCV001257038 RCV001291331 RCV004771802

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

SNV
Germline

Chr13:20192782

Pathogenic/Likely pathogenic

Condition: not provided
Rare genetic deafness
Hearing loss
Autosomal recessive nonsyndromic hearing loss 104
8 conditions
Hearing loss, autosomal recessive
Autosomal recessive nonsyndromic hearing loss 1A
Hereditary palmoplantar keratoderma
Hearing impairment
Autosomal recessive nonsyndromic hearing loss 1B
Autosomal recessive nonsyndromic hearing loss 1A
Nonsyndromic genetic hearing loss
Ear malformation
Autosomal dominant nonsyndromic hearing loss 3A
GJB2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA172205

rs_80338940

38 SubmittersRCV000418755 RCV000211766 RCV000678858 RCV003458323 RCV000762908 RCV001291328 RCV000018557 RCV004798737 RCV000146002 RCV001004401 RCV001257033 RCV001813995 RCV003147300 RCV004532386

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

SNV
Germline

Chr13:20189332

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA172218

rs_104894409

16 SubmittersRCV000018560 RCV000146012 RCV002504805 RCV000211770 RCV001041795 RCV001257042 RCV003335046

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

SNV
Germline

Chr13:20189448

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA127033

rs_72561723

6 SubmittersRCV000018561 RCV001851914 RCV000022510

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

SNV
Germline

Chr13:20189332

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA257683

rs_104894409

10 SubmittersRCV000018564 RCV000211769 RCV000254760 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
8 conditions
GJB2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA172228

rs_1801002

18 SubmittersRCV000020570 RCV000146020 RCV000211720 RCV000412324 RCV000711351 RCV001257034 RCV002504816 RCV004734527

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

Criteria Provided
Conflicting Classifications

CA134981

rs_80338949

12 SubmittersRCV000020573 RCV000037860 RCV001092709 RCV001257048 RCV001375209 RCV001787816

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

SNV
Germline

Chr13:20189526

Pathogenic

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

Reviewed By Expert Panel

CA342005

rs_80338941

10 SubmittersRCV000020575 RCV000602210 RCV000678862 RCV000757333 RCV001257035

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

SNV
Germline

Chr13:20189031

Pathogenic/Likely 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

17 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

11 SubmittersRCV000037802 RCV000296648 RCV000344717 RCV000586188 RCV000674792 RCV001257161 RCV004734551

NM_004004.6(GJB2):c.*3C>A

SNV
Germline

Chr13:20188898

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

CA134941

rs_111033460

7 SubmittersRCV000037803 RCV000375828 RCV000350337 RCV000505513 RCV000757330

NM_004004.6(GJB2):c.-45C>A

SNV
Germline

Chr13:20192805

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA134945

rs_397516868

8 SubmittersRCV000037808 RCV000375249 RCV001727531

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

SNV
Germline

Chr13:20189587

Conflicting classifications of pathogenicity

not specified
Autosomal dominant nonsyndromic hearing loss 3A
Autosomal recessive nonsyndromic hearing loss 1A
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 RCV000336963 RCV000311687 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 dominant nonsyndromic hearing loss 3A
Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA134947

rs_111033222

15 SubmittersRCV000037814 RCV000290549 RCV000345561 RCV000321209 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
8 conditions
GJB2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA261637

rs_111033297

13 SubmittersRCV000211761 RCV000505512 RCV000711347 RCV000678870 RCV002496600 RCV004534804

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

Criteria Provided
Conflicting Classifications

CA261639

rs_111033203

5 SubmittersRCV000037819 RCV001731333 RCV001826561 RCV004526604

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

Criteria Provided
Multiple Submitters
No Conflicts

CA261641

rs_111033451

7 SubmittersRCV000037820 RCV000211718 RCV000624822 RCV001389832

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

Reviewed By Expert Panel

CA198806

rs_111033293

12 SubmittersRCV000037821 RCV000211762 RCV000724654 RCV000762907 RCV003990963

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

Criteria Provided
Multiple Submitters
No Conflicts

CA172220

rs_111033299

16 SubmittersRCV000037834 RCV000146014 RCV000211719 RCV000515247 RCV000516830 RCV001257560 RCV004734552

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
8 conditions
Rare genetic deafness
Autosomal recessive nonsyndromic hearing loss 1A
Autosomal recessive nonsyndromic hearing loss 1B
Mutilating keratoderma
7 conditions
GJB2-related disorder

Reviewed By Expert Panel

CA172224

rs_104894408

18 SubmittersRCV000037839 RCV000080371 RCV000146017 RCV000410006 RCV000411497 RCV000678859 RCV000762906 RCV000844703 RCV001004399 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

Criteria Provided
Multiple Submitters
No Conflicts

CA172230

rs_111033295

13 SubmittersRCV000037844 RCV000146021 RCV000211721 RCV000412394 RCV000678882 RCV000757331 RCV000999926 RCV004018850

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

9 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
Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 3A
8 conditions
Hearing loss
Autosomal recessive nonsyndromic hearing loss 1A
Autosomal recessive nonsyndromic hearing loss 1B

Criteria Provided
Multiple Submitters
No Conflicts

CA172232

rs_76434661

24 SubmittersRCV000037851 RCV000146022 RCV000289146 RCV000255015 RCV000409236 RCV000515309 RCV000678884 RCV001004388

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
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA261649

rs_111033217

9 SubmittersRCV000037855 RCV000211780 RCV000490112 RCV002490513

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
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 1A
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 RCV000587337 RCV000674006 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

Criteria Provided
Conflicting Classifications

CA134983

rs_111033360

5 SubmittersRCV000037861 RCV000665938 RCV000991849

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

Criteria Provided
Multiple Submitters
No Conflicts

CA172236

rs_111033294

17 SubmittersRCV000037868 RCV000146025 RCV000211783 RCV000515258 RCV000724546 RCV001004386 RCV001257566 RCV004734554

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

Criteria Provided
Multiple Submitters
No Conflicts

CA261654

rs_111033190

10 SubmittersRCV000037873 RCV000410025 RCV000411577 RCV001218538 RCV001374640 RCV004534808

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 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

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

Criteria Provided
Conflicting Classifications

CA136461

rs_35002004

6 SubmittersRCV000038708 RCV000723451 RCV001080917 RCV001110053

NM_000082.4(ERCC8):c.478G>A (p.Ala160Thr)

SNV
Germline

Chr5:60904795

Conflicting classifications of pathogenicity

Condition: not provided
Cockayne syndrome type 1
Cockayne syndrome
Autosomal recessive nonsyndromic hearing loss 1A

Criteria Provided
Conflicting Classifications

CA219850

rs_281875222

3 SubmittersRCV000059646 RCV000664947 RCV004525867 RCV004542735

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

SNV
Germline

Chr13:20189284

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA172221

rs_143343083

15 SubmittersRCV000215444 RCV000146015 RCV000169347 RCV000798119 RCV004734702 RCV000678877 RCV001374647

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

SNV
Germline

Chr13:20189450

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA172211

rs_104894407

9 SubmittersRCV000146007 RCV000984267 RCV000593364

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.239A>C (p.Gln80Pro)

SNV
Germline

Chr13:20189343

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA273446

rs_727504302

6 SubmittersRCV000154345 RCV000505508 RCV001288584

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

SNV
Germline

Chr13:20189394

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA180700

rs_727504309

8 SubmittersRCV000154364 RCV000765115 RCV000711348 RCV001271875

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

9 SubmittersRCV000169112 RCV000505951 RCV000790715

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

SNV
Germline

Chr13:20189227

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA273833

rs_150529554

12 SubmittersRCV000278504 RCV000757332 RCV001288924 RCV000336897 RCV000407574 RCV000678880 RCV001175238

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

SNV
Germline

Chr13:20188984

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA274205

rs_786204597

2 SubmittersRCV000169350

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

SNV
Germline

Chr13:20188986

Pathogenic/Likely 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

11 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

3 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

Criteria Provided
Multiple Submitters
No Conflicts

CA273919

rs_781534323

7 SubmittersRCV000169070 RCV001207124 RCV001257041 RCV004528922

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

SNV
Germline

Chr13:20189352

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA274460

rs_104894395

4 SubmittersRCV000169604 RCV000218259 RCV001382072

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

SNV
Germline

Chr13:20189451

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA274012

rs_104894413

16 SubmittersRCV000169176 RCV000515211 RCV000517231 RCV000624765 RCV004734765

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

SNV
Unknown

Chr13:20189463

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 1A

Criteria Provided
Single Submitter

CA274135

rs_111033296

1 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

Criteria Provided
Multiple Submitters
No Conflicts

CA273921

rs_371024165

11 SubmittersRCV000169075 RCV000614720 RCV000724651 RCV001001448

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

SNV
Germline

Chr13:20192783

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 1A
Rare genetic deafness
Nonsyndromic genetic hearing loss
Hearing loss

Criteria Provided
Conflicting Classifications

CA274431

rs_786204734

6 SubmittersRCV000169581 RCV000220459 RCV001290620 RCV000678857

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

9 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

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

Criteria Provided
Conflicting Classifications

CA241523

rs_561870637

6 SubmittersRCV000313189 RCV000367888 RCV000586445 RCV000263886 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 recessive nonsyndromic hearing loss 1A
Autosomal dominant nonsyndromic hearing loss 3B
Hidrotic ectodermal dysplasia syndrome
Autosomal recessive nonsyndromic hearing loss 1B
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/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA357244

rs_786204597

5 SubmittersRCV000411925 RCV000210857 RCV001853379

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

SNV
Germline

Chr13:20189197

Pathogenic/Likely 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 dominant nonsyndromic hearing loss 3A
Autosomal recessive nonsyndromic hearing loss 1A
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

10 SubmittersRCV000490342 RCV000505510 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
Autosomal dominant nonsyndromic hearing loss 3B
X-linked mixed hearing loss with perilymphatic gusher
Hidrotic ectodermal dysplasia syndrome
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 recessive nonsyndromic hearing loss 1A
Autosomal dominant nonsyndromic hearing loss 3A
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10576937

rs_779018464

4 SubmittersRCV000213896 RCV000411886 RCV000409464 RCV001853423

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

Criteria Provided
Conflicting Classifications

CA6904347

rs_141962118

13 SubmittersRCV000219387 RCV000590691 RCV001109961 RCV001109963 RCV001109962 RCV004532756

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 recessive nonsyndromic hearing loss 1B
Autosomal dominant nonsyndromic hearing loss 3B
Hidrotic ectodermal dysplasia syndrome
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
Erythrokeratodermia variabilis et progressiva 1
Autosomal recessive nonsyndromic hearing loss 1A
Autosomal dominant nonsyndromic hearing loss 2B

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

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

Criteria Provided
Conflicting Classifications

CA10639102

rs_185790172

1 SubmittersRCV000281101 RCV000287144 RCV000373371

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

SNV
Germline

Chr13:20187885

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10639103

rs_537683957

1 SubmittersRCV000306675 RCV000404244 RCV000404968

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

Criteria Provided
Conflicting Classifications

CA6904298

rs_145216882

2 SubmittersRCV000280037 RCV000340839 RCV000671813

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6904269

rs_767178508

12 SubmittersRCV000825565 RCV000409580 RCV000411084 RCV000488996 RCV001257565 RCV000506862 RCV004735500

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6904300

rs_199883710

4 SubmittersRCV000410120 RCV000412105 RCV001054602 RCV004767246

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

SNV
Germline

Chr13:20189523

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16041595

rs_1057517519

7 SubmittersRCV000410601 RCV000411693 RCV000678863 RCV001257156 RCV001234615 RCV001374656

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

Reviewed By Expert Panel

CA6904336

rs_371086981

7 SubmittersRCV000409687 RCV000410366 RCV000991847 RCV001171533 RCV004530500

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

Criteria Provided
Conflicting Classifications

CA16042821

rs_1057517976

4 SubmittersRCV000412967 RCV000666314

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

SNV
Germline

Chr13:20189605

Likely pathogenic

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

Reviewed By Expert Panel

CA6904346

rs_201895089

20 SubmittersRCV000416425 RCV000579320 RCV000507029 RCV000710316 RCV001109960 RCV001109959 RCV002481293 RCV004530519

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

Criteria Provided
Conflicting Classifications

CA387460847

rs_570552952

3 SubmittersRCV000505530 RCV001857234

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
Nonsyndromic genetic hearing loss

Reviewed By Expert Panel

CA387460849

rs_1378679640

5 SubmittersRCV000505521 RCV000731139 RCV003387862 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

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6904326

rs_749693224

5 SubmittersRCV000505534 RCV001112642 RCV001112643 RCV001857232

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

Reviewed By Expert Panel

CA6904317

rs_141774369

6 SubmittersRCV000520583 RCV000826112 RCV000855645 RCV001252676

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

Criteria Provided
Conflicting Classifications

CA387461474

rs_1250849257

4 SubmittersRCV000589231 RCV001834858

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

8 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

rs_568612627

5 SubmittersRCV000665870 RCV001218684 RCV001779042

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

SNV
Germline

Chr13:20189068

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_770330002

2 SubmittersRCV000673989 RCV001861830

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

rs_111033293

3 SubmittersRCV000665536 RCV003660822 RCV003991034

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

SNV
Germline

Chr13:20189449

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1326514987

4 SubmittersRCV000825343 RCV001861812 RCV000672597

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

SNV
Germline

Chr13:20189167

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 1A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1555341907

2 SubmittersRCV000668607 RCV002531202

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
Multiple Submitters
No Conflicts

rs_769486081

2 SubmittersRCV000670427 RCV002531252

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

Reviewed By Expert Panel

rs_371086981

3 SubmittersRCV000667085 RCV003688870 RCV003991035

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

Criteria Provided
Conflicting Classifications

rs_28931595

2 SubmittersRCV000665713 RCV001855444

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

SNV
Germline

Chr13:20189488

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_371024165

4 SubmittersRCV000664869 RCV000762905 RCV001861739

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

SNV
Germline

Chr13:20189032

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_998045226

7 SubmittersRCV000678887 RCV001078465 RCV001089546 RCV001390263 RCV002249403

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

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

rs_1302739538

2 SubmittersRCV000721943 RCV001004778

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

SNV
Germline

Chr1:34784770

Pathogenic

Autosomal recessive nonsyndromic hearing loss 1A

No Assertion Criteria Provided

rs_1557659237

1 SubmittersRCV000770824

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

SNV
Germline

Chr13:20189325

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1291519904

7 SubmittersRCV000778387 RCV001784383 RCV001113901 RCV001374648 RCV003317365

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

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

rs_768130937

4 SubmittersRCV000779131 RCV001112644 RCV001112645 RCV001193185

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

SNV
Germline

Chr13:20189072

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_763068053

6 SubmittersRCV001113812 RCV001436900 RCV001113810 RCV001113811 RCV000781417 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

rs_1422767764

3 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

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

Criteria Provided
Conflicting Classifications

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

rs_1959056736

2 SubmittersRCV001044753 RCV004789378

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

SNV
Germline

Chr13:20189386

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

rs_104894403

3 SubmittersRCV001109875 RCV001109876 RCV001109877 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

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

Criteria Provided
Conflicting Classifications

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

rs_1476034902

3 SubmittersRCV001204537 RCV004768913

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

SNV
Germline

Chr13:20189077

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_760489970

3 SubmittersRCV001374649 RCV003232335 RCV003558824

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

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

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

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

rs_535635403

3 SubmittersRCV001810543 RCV002541486 RCV003235601

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

SNV
Germline

Chr13:20223258

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_2137333664

2 SubmittersRCV002007632 RCV004571869

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

SNV
Germline

Chr1:34785429

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_373815705

5 SubmittersRCV001888944 RCV004752087 RCV004801077 RCV004584932

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