×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
Biomarker
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
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis.
26749107
2016
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
GeneticVariation
CLINVAR
The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis.
26749107
2016
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
GeneticVariation
CLINVAR
The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population.
26896187
2016
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
GeneticVariation
CLINVAR
Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss.
27169813
2016
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay.
27247933
2016
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
GeneticVariation
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
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis.
26763877
2016
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
A Mayan founder mutation is a common cause of deafness in Guatemala.
26346709
2016
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
Prevalence of GJB2 gene mutation in 330 cochlear implant patients in the Jiangsu province.
27534436
2016
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
Prevalence and audiological profiles of GJB2 mutations in a large collective of hearing impaired patients.
26778469
2016
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population.
26896187
2016
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
Characterization of a knock-in mouse model of the homozygous p.V37I variant in Gjb2.
27623246
2016
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
25388846
2015
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
A new compound heterozygous mutation in GJB2 causes nonsyndromic hearing loss in a consanguineous Iranian family.
25708704
2015
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
GeneticVariation
CLINVAR
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
25388846
2015
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
GeneticVariation
CLINVAR
Two novel compound heterozygous families with a trimutation in the GJB2 gene causing sensorineural hearing loss.
26553399
2015
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
Prevalence of Deafness-Associated Connexin-26 (GJB2) and Connexin-30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily.
26096904
2015
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
GeneticVariation
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
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
The deafness-causing mutation c.508_511dup in the GJB2 gene and a literature review.
25891447
2015
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
Prevalence of 35delG and Met34Thr GJB2 variants in Portuguese samples.
26482070
2015
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
Correlation analysis of phenotype and genotype of GJB2 in patients with non-syndromic hearing loss in China.
26095810
2015
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
Mutations of GJB2 encoding connexin 26 contribute to non-syndromic moderate and severe hearing loss in Pakistan.
25636251
2015
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
GeneticVariation
CLINVAR
Long-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 Mutations.
26397989
2015
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
0.900
CausalMutation
CLINVAR
Non-syndromic hearing loss caused by the dominant cis mutation R75Q with the recessive mutation V37I of the GJB2 (Connexin 26) gene.
26088551
2015