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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 27 more
Normalized p.HGVS
p.(=), p.(Ala149Thr), p.(Asp159Asn), p.(Asp159Tyr), p.(Asp159Val) and 25 more
Matching records
151
PM3-positive records
21
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.
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| GJB2 |
NM_004004.6:c.339T>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Potential PM3 evidence identified; genotype context not structured
context: PM3 evidence context not structured
|
37106706
Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.
Biology, 2023
|
Supplementary material | |
| 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 | |
| GJB2 |
NM_004004.6:c.326G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
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 | |
| GJB2 |
NM_004004.6:c.23C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with p.Val37Ile
context: Compound heterozygous candidate
|
33096615
GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort.
Genes, 2020
|
Supplementary material | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| GJB2 |
NM_004004.6:c.100A>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
22613756
Mutation detection in GJB2 gene among Malays with non-syndromic hearing loss.
International journal of pediatric otorhinolaryngology, 2012
|
Main article | |
| 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 | |
| GJB2 |
NM_004004.6:c.476A>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with 176–191 del (16); 313del14; 31del14; +29 more
context: Compound heterozygous candidate
|
19230829
Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.
Brain research, 2009
|
Main article | |
| GJB2 |
NM_004004.6:c.88A>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.341A>G; c.79G>A; p.E114G; +1 more
context: Compound heterozygous candidate
|
18990456
A novel missense mutation in the Connexin 26 gene associated with autosomal recessive nonsyndromic sensorineural hearing loss in a consanguineous Tunisian family.
International journal of pediatric otorhinolaryngology, 2009
|
Main article | |