{{Rsnum
|rsid=35887622
|Gene=GJB2
|Chromosome=13
|position=20189481
|Orientation=plus
|GMAF=0.009642
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=GJB2
}}hereditary non-syndromic sensorineural [[deafness]] {{PMID|9139825}}

{{omim
|id=121011
|rsnum=35887622
|variant=0001
}}

{{ClinVar
|rsid=35887622
|Reversed=0
|FwdREF=A
|FwdALT=C,G
|REF=A
|ALT=C,G
|RSPOS=20763620
|CHROM=13
|GMAF=0.0096
|dbSNPBuildID=126
|SSR=0
|SAO=1
|VP=0x050368000000040516110100
|GENEINFO=GJB2:2706
|GENE_NAME=GJB2
|GENE_ID=2706
|WGT=0
|VC=SNV
|CLNALLE=1; 2
|CLNHGVS=NC_000013.10:g.20763620A>C; NC_000013.10:g.20763620A>G
|CLNSRC=Emory University; GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=283; NBK1272; 121011.0001
|CLNCUI=.,C2673759; C1844678
|CLNDBN=Hereditary hearing loss and deafness; Deafness, autosomal recessive 1A; not provided
|Disease=Hereditary hearing loss and deafness; Deafness; not provided
|CLNACC=RCV000037811.1; RCV000018523.27; RCV000037810.1; RCV000080364.1
|Tags=PM;PMC;S3D;SLO;VLD;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9904; 0.009642
|CLNDSDB=GeneReviews:MedGen:SNOMED_CT; GeneReviews:GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1434:C0236038:95827002; NBK1272:NBK1434:C2673759:220290:90636
|CLNSIG=5
|COMMON=1
}}

{{PMID|9422505}} Connexin mutations and hearing loss.

{{PMID|9529365|OA=1
}} Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.

{{PMID|9716127}} Connexin mutations in deafness.

{{PMID|10903123|OA=1
}} Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT.

{{PMID|11134236|OA=1
}} Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss.

{{PMID|16380907|OA=1
}} GJB2 mutations and degree of hearing loss: a multicenter study.

{{PMID|17935238}} M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance.

{{PMID|17666888}} A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.

{{GET Evidence
|gene=GJB2
|aa_change=Met34Thr
|aa_change_short=M34T
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs35887622
|overall_frequency_n=107
|overall_frequency_d=10758
|overall_frequency=0.00994609
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.808
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=2
|autoscore=5
|webscore=N
|n_web_uneval=10
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}