Gene: GJB2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1291519904
rs1291519904
GJB2
C 0.800 CausalMutation CLINVAR Sensorineural hearing loss caused by mutations in two alleles of both GJB2 and SLC26A4 genes. 23266159

2013
dbSNP: rs72474224
rs72474224
GJB2
T 0.800 CausalMutation CLINVAR Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: further confirmation of pathogenicity and haplotype analysis in Asian populations. 23873582

2013
dbSNP: rs779018464
rs779018464
GJB2
G 0.800 GeneticVariation CLINVAR Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss. 23680645

2013
dbSNP: rs80338946
rs80338946
GJB2
C 0.800 GeneticVariation CLINVAR [Genetic analysis and prenatal diagnosis for non-syndromic hearing impairment]. 24078562

2013
dbSNP: rs80338950
rs80338950
GJB2
G 0.800 CausalMutation CLINVAR An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. 22975760

2013
dbSNP: rs104894397
rs104894397
GJB2
G 0.800 CausalMutation CLINVAR Etiologic diagnosis of nonsyndromic genetic hearing loss in adult vs pediatric populations. 22785241

2012
dbSNP: rs104894409
rs104894409
GJB2
G 0.800 CausalMutation CLINVAR Unique spectrum of GJB2 mutations in Mexico. 22925408

2012
dbSNP: rs111033190
rs111033190
GJB2
A 0.800 GeneticVariation CLINVAR Unique spectrum of GJB2 mutations in Mexico. 22925408

2012
dbSNP: rs111033190
rs111033190
GJB2
T 0.800 CausalMutation CLINVAR Mutation detection in GJB2 gene among Malays with non-syndromic hearing loss. 22613756

2012
dbSNP: rs397516871
rs397516871
GJB2
T 0.800 GeneticVariation CLINVAR Porokeratotic eccrine nevus may be caused by somatic connexin26 mutations. 22592158

2012
dbSNP: rs111033190
rs111033190
GJB2
T 0.800 CausalMutation CLINVAR Impaired membrane targeting and aberrant cellular localization of human Cx26 mutants associated with inherited recessive hearing loss. 20863150

2011
dbSNP: rs72474224
rs72474224
GJB2
T 0.800 CausalMutation CLINVAR Newborn genetic screening for hearing impairment: a preliminary study at a tertiary center. 21811586

2011
dbSNP: rs80338945
rs80338945
GJB2
G 0.800 CausalMutation CLINVAR Multiple effects of childhood deafness on cortical activity in children receiving bilateral cochlear implants simultaneously. 21094084

2011
dbSNP: rs80338948
rs80338948
GJB2
A 0.800 CausalMutation CLINVAR Vestibular dysfunction in DFNB1 deafness. 21465647

2011
dbSNP: rs80338950
rs80338950
GJB2
G 0.800 CausalMutation CLINVAR Vestibular dysfunction in DFNB1 deafness. 21465647

2011
dbSNP: rs80338950
rs80338950
GJB2
G 0.800 CausalMutation CLINVAR Spectrum of CFTR gene mutations in Iranian Azeri Turkish patients with cystic fibrosis. 21198395

2011
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
G 0.800 CausalMutation CLINVAR Analysis of four connexin26 mutant gap junctions and hemichannels reveals variations in hexamer stability. 20441744

2010
dbSNP: rs111033190
rs111033190
GJB2
A 0.800 GeneticVariation CLINVAR Connexin-26-associated deafness: phenotypic variability and progression of hearing loss. 20154630

2010
dbSNP: rs397516871
rs397516871
GJB2
T 0.800 GeneticVariation CLINVAR A large cohort study of GJB2 mutations in Japanese hearing loss patients. 20497192

2010
dbSNP: rs779018464
rs779018464
GJB2
G 0.800 GeneticVariation CLINVAR DFNB1-associated deafness in Portuguese cochlear implant users: prevalence and impact on oral outcome. 20650534

2010
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: rs1291519904
rs1291519904
GJB2
C 0.800 CausalMutation CLINVAR Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss. 19384972

2009
dbSNP: rs779018464
rs779018464
GJB2
G 0.800 GeneticVariation CLINVAR Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss. 19371219

2009
dbSNP: rs80338948
rs80338948
GJB2
A 0.800 CausalMutation CLINVAR GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment. 19366456

2009