Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894401
rs104894401
0.800 GeneticVariation CLINVAR Long-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 Mutations. 26397989

2016

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: rs104894401
rs104894401
0.800 GeneticVariation CLINVAR Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome. 23856378

2014

dbSNP: rs104894401
rs104894401
0.800 GeneticVariation CLINVAR Identification of a p.R143Q dominant mutation in the gap junction beta-2 gene in three Chinese patients with different hearing phenotypes. 22991996

2013

dbSNP: rs104894401
rs104894401
0.800 GeneticVariation CLINVAR Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26. 21040787

2011

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

2011

dbSNP: rs104894401
rs104894401
0.800 GeneticVariation CLINVAR Mutation analysis of familial GJB2-related deafness in Iranian Azeri Turkish patients. 19715472

2010

dbSNP: rs104894401
rs104894401
0.800 GeneticVariation CLINVAR Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30. 20096356

2010

dbSNP: rs80338950
rs80338950
0.800 CausalMutation CLINVAR Mutation R184Q of connexin 26 in hearing loss patients has a dominant-negative effect on connexin 26 and connexin 30. 20442751

2010

dbSNP: rs104894401
rs104894401
0.800 GeneticVariation CLINVAR A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. 17666888

2007

dbSNP: rs104894401
rs104894401
0.800 GeneticVariation CLINVAR High incidence of GJB2 mutations during screening of newborns for hearing loss in Austria. 17485979

2007

dbSNP: rs104894401
rs104894401
0.800 GeneticVariation CLINVAR Molecular genetics study of deafness in Brazil: 8-year experience. 17567887

2007

dbSNP: rs104894401
rs104894401
0.800 GeneticVariation CLINVAR Detection of mutations in genes associated with hearing loss using a microarray-based approach. 16931589

2006

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: rs28931595
rs28931595
0.800 CausalMutation CLINVAR A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss. 12786758

2004

dbSNP: rs28931595
rs28931595
0.800 GeneticVariation UNIPROT A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss. 12786758

2004

dbSNP: rs104894402
rs104894402
0.800 CausalMutation CLINVAR Transgenic expression of a dominant-negative connexin26 causes degeneration of the organ of Corti and non-syndromic deafness. 12700168

2003

dbSNP: rs104894401
rs104894401
0.800 GeneticVariation CLINVAR Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. 11313763

2001

dbSNP: rs104894401
rs104894401
0.800 CausalMutation CLINVAR Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. 11313763

2001

dbSNP: rs104894401
rs104894401
0.800 GeneticVariation UNIPROT Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. 11313763

2001

dbSNP: rs104894401
rs104894401
0.800 GeneticVariation CLINVAR Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2). 11438992

2001

dbSNP: rs104894402
rs104894402
0.800 CausalMutation CLINVAR De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss. 11354642

2001

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

2001

dbSNP: rs80338950
rs80338950
0.800 GeneticVariation UNIPROT Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana. 11439000

2001