×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
Biomarker
disease
GENOMICS_ENGLAND
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
31160754
2019
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
GeneticVariation
disease
CLINVAR
Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus.
26444186
2016
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
CausalMutation
disease
CLINVAR
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
25388846
2015
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
GeneticVariation
disease
CLINVAR
GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss.
26043044
2015
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
GeneticVariation
disease
CLINVAR
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
25388846
2015
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
GeneticVariation
disease
CLINVAR
Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China.
26252218
2015
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
GeneticVariation
disease
CLINVAR
Long-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 Mutations.
26397989
2015
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
GeneticVariation
disease
CLINVAR
Keratitis-ichthyosis-deafness syndrome-associated Cx26 mutants produce nonfunctional gap junctions but hyperactive hemichannels when co-expressed with wild type Cx43.
25625422
2015
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
GeneticVariation
disease
CLINVAR
New and rare GJB2 alleles in patients with nonsyndromic sensorineural hearing impairment: a genotype/auditory phenotype correlation.
25401782
2014
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
GeneticVariation
disease
CLINVAR
GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico.
25288386
2014
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
GeneticVariation
disease
CLINVAR
Spectrum and frequency of GJB2 mutations causing deafness in the northwest of Iran.
24529908
2014
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
GeneticVariation
disease
CLINVAR
Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.
24949729
2014
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
GeneticVariation
disease
CLINVAR
Prevalence of GJB2 mutations in the Silk Road region of China and a report of three novel variants.
24256046
2014
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
CausalMutation
disease
CLINVAR
Particular distribution of the GJB2/GJB6 gene mutations in Mexican population with hearing impairment.
24774219
2014
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
GeneticVariation
disease
CLINVAR
Comparative study of mutation spectrums of MT-RNR1 m.1555A>G, GJB2, and SLC26A4 between familial and sporadic patients with nonsyndromic sensorineural hearing loss in Chinese Han.
25266519
2014
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
GeneticVariation
disease
CLINVAR
Analysis of trafficking, stability and function of human connexin 26 gap junction channels with deafness-causing mutations in the fourth transmembrane helix.
23967136
2013
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
GeneticVariation
disease
CLINVAR
Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome.
23856378
2013
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
CausalMutation
disease
CLINVAR
Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients.
23668481
2013
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
GeneticVariation
disease
CLINVAR
Identification of four novel connexin 26 mutations in non-syndromic deaf patients: genotype-phenotype analysis in moderate cases.
24158611
2013
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
GeneticVariation
disease
CLINVAR
Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss.
23680645
2013
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
GeneticVariation
disease
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
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
GeneticVariation
disease
CLINVAR
Unique spectrum of GJB2 mutations in Mexico.
22925408
2012
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
CausalMutation
disease
CLINVAR
Mutation detection in GJB2 gene among Malays with non-syndromic hearing loss.
22613756
2012
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
GeneticVariation
disease
CLINVAR
The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study.
22695344
2012
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.700
GeneticVariation
disease
CLINVAR
[Changes in the connexin 26 (GJB2) gene in Russian patients with hearing disorders: results of long-term molecular diagnostics of hereditary nonsyndromic deafness].
22567861
2012