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Recognized gene
GJB2
Normalized c.HGVS
c.-1G>A, c.-7G>A, c.100A>T, c.107T>C, c.14C>T and 23 more
Normalized p.HGVS
p.(=), p.(Ala149Thr), p.(Asp159Asn), p.(Asp159Tyr), p.(Asp159Val) and 21 more
Matching records
120
PM3-positive records
16

Results are ordered by PM3-relevant evidence first. Reviewed source only indicates whether main text, supplementary material, or both were reviewed; it is not the evidence conclusion.

Download current query results as TSV
Gene Variant Evidence PM3 context Publication Reviewed source Actions
GJB2 NM_004004.6:c.-1G>A Phase-unconfirmed biallelic evidence
Needs review
Possible compound heterozygous with c.244 A > G; p.Ile82Val
context: Compound heterozygous candidate
 40739506
Consanguinity and rare monogenic systemic autoinflammatory disorders: implications for prevalence and genetic variability.
Pediatric rheumatology online journal, 2025
 Main article
Open
GJB2 NM_004004.6:c.571T>C Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.109G>A
context: Compound heterozygous candidate
 39948052
Screening for Hearing Impairment in Newborns Using Targeted Genomic Sequencing: A Large Pilot Cohort Study.
Clinical and experimental otorhinolaryngology, 2025
 Main article
Open
GJB2 NM_004004.6:c.-1G>A Phase-unconfirmed biallelic evidence
High confidence
Potential PM3 evidence identified; genotype context not structured
context: PM3 evidence context not structured
 38868966
Spectrum of genetic variants in 306 patients with non-syndromic hearing loss from Croatia.
Croatian medical journal, 2024
 Main article
Open
GJB2 NM_004004.6:c.23C>T Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.457G>A; Val153Ile
context: Compound heterozygous candidate
 37239361
The GJB2 (Cx26) Gene Variants in Patients with Hearing Impairment in the Baikal Lake Region (Russia).
Genes, 2023
 Main article
Open
GJB2 NM_004004.6:c.100A>T Phase-unconfirmed biallelic evidence
High confidence
Homozygous for query variant
context: Homozygous evidence
 36672810
Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene.
Genes, 2022
 Main article
Open
GJB2 NM_004004.6:c.107T>C Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.235delC
context: Compound heterozygous candidate
 31992338
Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations.
Orphanet journal of rare diseases, 2020
 Supplementary material
Open
GJB2 NM_004004.6:c.23C>T Phase-unconfirmed biallelic evidence
High confidence
Homozygous for query variant
context: Homozygous evidence
 31162818
Frequency of GJB2 mutations, GJB6-D13S1830 and GJB6-D13S1854 deletions among patients with non-syndromic hearing loss from the central region of Iran.
Molecular genetics & genomic medicine, 2019
 Main article
Open
GJB2 NM_004004.6:c.587T>C Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with Lys168Arg
context: Compound heterozygous candidate
 29773520
Frequency of GJB2 mutations in patients with nonsyndromic hearing loss from an ethnically characterized Brazilian population.
Brazilian journal of otorhinolaryngology, 2019
 Main article
Open
GJB2 NM_004004.6:c.585G>C Phase-unconfirmed biallelic evidence
Low confidence
Possible compound heterozygous with c.675 A>T; P225P; p.P225P
context: Compound heterozygous candidate
 29921236
Role of DFNB1 mutations in hereditary hearing loss among assortative mating hearing impaired families from South India.
BMC medical genetics, 2018
 Main article
Open
GJB2 NM_004004.6:c.9G>T Phase-unconfirmed biallelic evidence
Low confidence
Possible compound heterozygous with c.235delC
context: Compound heterozygous candidate
 27792752
Application of SNPscan in Genetic Screening for Common Hearing Loss Genes.
PloS one, 2016
 Main article
Open
GJB2 NM_004004.6:c.571T>C Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with Frameshift
context: Compound heterozygous candidate
 27247933
Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay.
BioMed research international, 2016
 Main article
Open
GJB2 NM_004004.6:c.571T>C Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.109G>A; p.V37I
context: Compound heterozygous candidate
 26252218
Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China.
PloS one, 2015
 Main article
Open
GJB2 NM_004004.6:c.476A>T Phase-unconfirmed biallelic evidence
Needs review
Possible compound heterozygous with Val193Glu
context: Compound heterozygous candidate
 26061264
Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population.
PloS one, 2015
 Main article
Open
GJB2 NM_004004.6:c.107T>C Phase-unconfirmed biallelic evidence
High confidence
Confirmed in trans with c.341A>G; c.35delG; c.79G>A; +2 more
context: Confirmed in trans
 26043044
GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss.
PloS one, 2015
 Main article
Open
GJB2 NM_004004.6:c.88A>G Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.341A>G; c.79G>A
context: Compound heterozygous candidate
 26043044
GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss.
PloS one, 2015
 Supplementary material
Open
GJB2 NM_004004.6:c.23C>T Phase-unconfirmed biallelic evidence
Needs review
Possible compound heterozygous with V37I
context: Compound heterozygous candidate
 22384008
Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study.
PloS one, 2012
 Main article
Open
GJB2 NM_004004.6:c.663G>C Other Patient-Level Evidence
High confidence
Patient-level evidence found, not PM3
context: Other patient-level evidence
 38791074
Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis.
Biomedicines, 2024
 Main article and supplement
Open
GJB2 NM_004004.6:c.326G>A Other Patient-Level Evidence
High confidence
No PM3 candidate genotype identified 35887629
Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases.
Journal of personalized medicine, 2022
 Supplementary material
Open
GJB2 NM_004004.6:c.88A>G Other Patient-Level Evidence
High confidence
Patient-level evidence found, not PM3
context: Other patient-level evidence
 34335733
Hearing Screening Combined with Target Gene Panel Testing Increased Etiological Diagnostic Yield in Deaf Children.
Neural plasticity, 2021
 Main article and supplement
Open
GJB2 NM_004004.6:c.23C>T Other Patient-Level Evidence
High confidence
No PM3 candidate genotype identified 33096615
GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort.
Genes, 2020
 Supplementary material
Open