Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894406
rs104894406
0.800 CausalMutation CLINVAR Nonsyndromic Hearing Loss and Deafness, DFNA3 20301708

1993

dbSNP: rs104894406
rs104894406
0.800 GeneticVariation UNIPROT A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss. 10807696

2000

dbSNP: rs104894407
rs104894407
0.800 GeneticVariation UNIPROT Connexin 26 gene linked to a dominant deafness. 9620796

1998

dbSNP: rs104894407
rs104894407
0.800 CausalMutation CLINVAR A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome. 20854437

2011

dbSNP: rs104894407
rs104894407
0.800 CausalMutation CLINVAR Nonsyndromic Hearing Loss and Deafness, DFNA3 20301708

1993

dbSNP: rs104894407
rs104894407
0.800 CausalMutation CLINVAR W44C mutation in the connexin 26 gene associated with dominant non-syndromic deafness. 11298683

2001

dbSNP: rs104894409
rs104894409
0.700 CausalMutation CLINVAR A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss. 18472371

2008

dbSNP: rs104894409
rs104894409
0.700 CausalMutation CLINVAR Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients. 23668481

2014

dbSNP: rs104894409
rs104894409
0.700 CausalMutation CLINVAR Particular distribution of the GJB2/GJB6 gene mutations in Mexican population with hearing impairment. 24774219

2015

dbSNP: rs104894409
rs104894409
0.700 CausalMutation CLINVAR A novel hearing-loss-related mutation occurring in the GJB2 basal promoter. 17660464

2007

dbSNP: rs104894413
rs104894413
0.800 CausalMutation CLINVAR Nonsyndromic Hearing Loss and Deafness, DFNA3 20301708

1993

dbSNP: rs104894413
rs104894413
0.800 GeneticVariation UNIPROT Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30. 12668604

2004

dbSNP: rs104894413
rs104894413
0.800 CausalMutation CLINVAR Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30. 12668604

2004

dbSNP: rs104894413
rs104894413
0.800 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs1057517491
rs1057517491
0.700 GeneticVariation CLINVAR

dbSNP: rs1057517508
rs1057517508
0.700 GeneticVariation CLINVAR

dbSNP: rs1057517519
rs1057517519
0.700 GeneticVariation CLINVAR Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. 11313763

2001

dbSNP: rs1057517519
rs1057517519
0.700 GeneticVariation CLINVAR Prevalence of GJB2 mutations in the Silk Road region of China and a report of three novel variants. 24256046

2014

dbSNP: rs1057517519
rs1057517519
0.700 GeneticVariation CLINVAR New and rare GJB2 alleles in patients with nonsyndromic sensorineural hearing impairment: a genotype/auditory phenotype correlation. 25401782

2015

dbSNP: rs1057517519
rs1057517519
0.700 GeneticVariation CLINVAR Gap junction-mediated intercellular biochemical coupling in cochlear supporting cells is required for normal cochlear functions. 16217030

2005

dbSNP: rs1057517519
rs1057517519
0.700 GeneticVariation CLINVAR GJB2 mutations and degree of hearing loss: a multicenter study. 16380907

2006

dbSNP: rs1057517521
rs1057517521
0.700 GeneticVariation CLINVAR GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients. 15967879

2005

dbSNP: rs1064797088
rs1064797088
0.700 CausalMutation CLINVAR Nonsyndromic Hearing Loss and Deafness, DFNA3 20301708

1993

dbSNP: rs1064797089
rs1064797089
0.700 CausalMutation CLINVAR Nonsyndromic Hearing Loss and Deafness, DFNA3 20301708

1993

dbSNP: rs1064797090
rs1064797090
0.700 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015