Gene: GJB2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894409
rs104894409
GJB2
A 0.800 CausalMutation CLINVAR Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness. 12505163

2003
dbSNP: rs104894409
rs104894409
GJB2
A 0.800 CausalMutation CLINVAR Functional analysis of connexin-26 mutants associated with hereditary recessive deafness. 12562518

2003
dbSNP: rs104894409
rs104894409
GJB2
A 0.800 CausalMutation CLINVAR A Mayan founder mutation is a common cause of deafness in Guatemala. 26346709

2016
dbSNP: rs104894409
rs104894409
GJB2
A 0.800 CausalMutation CLINVAR Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. 11313763

2001
dbSNP: rs104894409
rs104894409
GJB2
A 0.800 CausalMutation CLINVAR Connexin 26 studies in patients with sensorineural hearing loss. 11556849

2001
dbSNP: rs104894409
rs104894409
GJB2
A 0.800 CausalMutation CLINVAR Analysis of four connexin26 mutant gap junctions and hemichannels reveals variations in hexamer stability. 20441744

2010
dbSNP: rs104894409
rs104894409
GJB2
A 0.800 CausalMutation CLINVAR Prevalence and audiological profiles of GJB2 mutations in a large collective of hearing impaired patients. 26778469

2016
dbSNP: rs104894409
rs104894409
GJB2
A 0.800 CausalMutation CLINVAR GJB2-associated hearing loss undetected by hearing screening of newborns. 24013081

2013
dbSNP: rs104894409
rs104894409
GJB2
A 0.800 CausalMutation CLINVAR A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. 17666888

2007
dbSNP: rs104894409
rs104894409
GJB2
A 0.800 CausalMutation CLINVAR A genotype-phenotype correlation for GJB2 (connexin 26) deafness. 14985372

2004
dbSNP: rs104894409
rs104894409
GJB2
A 0.800 CausalMutation CLINVAR Gap junction-mediated intercellular biochemical coupling in cochlear supporting cells is required for normal cochlear functions. 16217030

2005
dbSNP: rs104894409
rs104894409
GJB2
A 0.800 CausalMutation CLINVAR Etiology and audiological outcomes at 3 years for 364 children in Australia. 23555729

2013
dbSNP: rs104894409
rs104894409
GJB2
A 0.800 CausalMutation CLINVAR Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness. 15592461

2005
dbSNP: rs104894409
rs104894409
GJB2
A 0.800 CausalMutation CLINVAR Pathogenetic role of the deafness-related M34T mutation of Cx26. 16849369

2006
dbSNP: rs111033190
rs111033190
GJB2
A 0.800 GeneticVariation CLINVAR High frequency of connexin26 (GJB2) mutations associated with nonsyndromic hearing loss in the population of Kerala, India. 19157576

2009
dbSNP: rs111033190
rs111033190
GJB2
A 0.800 GeneticVariation CLINVAR Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing. 12172394

2002
dbSNP: rs111033190
rs111033190
GJB2
A 0.800 GeneticVariation CLINVAR Unique spectrum of GJB2 mutations in Mexico. 22925408

2012
dbSNP: rs111033190
rs111033190
GJB2
A 0.800 GeneticVariation CLINVAR Frequency of GJB2 and del(GJB6-D13S1830) mutations among an Ecuadorian mestizo population. 25085072

2014
dbSNP: rs111033190
rs111033190
GJB2
A 0.800 GeneticVariation CLINVAR Connexin-26-associated deafness: phenotypic variability and progression of hearing loss. 20154630

2010
dbSNP: rs397516875
rs397516875
GJB2
A 0.800 CausalMutation CLINVAR

dbSNP: rs397516875
rs397516875
GJB2
A 0.800 GeneticVariation CLINVAR Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss. 27169813

2016
dbSNP: rs80338948
rs80338948
GJB2
A 0.800 CausalMutation CLINVAR GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation. 12560944

2003
dbSNP: rs80338948
rs80338948
GJB2
A 0.800 CausalMutation CLINVAR Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene. 10982180

2000
dbSNP: rs80338948
rs80338948
GJB2
A 0.800 CausalMutation CLINVAR Vestibular dysfunction in DFNB1 deafness. 21465647

2011
dbSNP: rs80338948
rs80338948
GJB2
A 0.800 GeneticVariation CLINVAR