{{Rsnum
|rsid=80338947
|Chromosome=13
|Orientation=minus
|geno1=(-;-)
|geno2=(-;GAG)
|geno3=(GAG;GAG)
|Gene=GJB2
|position=20189222
|Gene_s=GJB2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=80338947
|Reversed=1
|FwdREF=GAG
|FwdALT=
|REF=TCTC
|ALT=T
|RSPOS=20763360
|CHROM=13
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050168000000000002110200
|GENEINFO=GJB2:2706
|GENE_NAME=GJB2
|GENE_ID=2706
|WGT=0
|VC=DIV
|CLNALLE=1
|CLNHGVS=NC_000013.10:g.20763361_20763363delCTC
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK1272; 121011.0007
|CLNSIG=5
|CLNCUI=C1844678
|CLNDBN=Deafness, autosomal recessive 1A; Hereditary hearing loss and deafness
|Disease=Deafness; Hereditary hearing loss and deafness
|CLNACC=RCV000018530.27; RCV000037841.1
|Tags=RV;PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet; GeneReviews:MedGen:SNOMED_CT
|CLNDSDBID=NBK1272:NBK1434:C2673759:220290:90636; NBK1434:C0236038:95827002
}}{{PMID|16380907|OA=1
}} GJB2 mutations and degree of hearing loss: a multicenter study.

{{PMID|12673800}} Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: roles of parental consanguinity and assortative mating.

{{PMID|15666300}} GJB2 mutations: passage through Iran.

{{PMID|15967879}} GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.

{{PMID|16712961}} Effects of GJB2 genotypes on the audiological phenotype: variability is present for all genotypes.

{{PMID|18941476|OA=1
}} Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss.