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NM_004004.6(GJB2):c.101T>C (p.Met34Thr)

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Interpretation:
Pathogenic​

Review status:
reviewed by expert panel FDA Recognized Database
Submissions:
23 (Most recent: Sep 24, 2019)
Last evaluated:
Jun 24, 2019
Accession:
VCV000017000.9
Variation ID:
17000
Description:
single nucleotide variant
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NM_004004.6(GJB2):c.101T>C (p.Met34Thr)

Allele ID
32039
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q12.11
Genomic location
13: 20189481 (GRCh38) GRCh38 UCSC
13: 20763620 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.20763620A>G
NC_000013.11:g.20189481A>G
NM_004004.6:c.101T>C NP_003995.2:p.Met34Thr missense
... more HGVS
Protein change
M34T
Other names
rs35887622
NM_004004.5(GJB2):c.101T>C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00599 (G)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00868
Exome Aggregation Consortium (ExAC) 0.00850
1000 Genomes Project 0.00599
Trans-Omics for Precision Medicine (TOPMed) 0.00802
The Genome Aggregation Database (gnomAD) 0.01153
Links
ClinGen: CA172206
UniProtKB: P29033#VAR_002138
OMIM: 121011.0001
dbSNP: rs35887622
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 reviewed by expert panel Jun 24, 2019 RCV000211758.2
Pathogenic 4 criteria provided, multiple submitters, no conflicts Dec 11, 2018 RCV000080364.10
Likely benign 1 criteria provided, single submitter - RCV000168670.5
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000260287.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000300311.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000355109.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000379337.1
Pathogenic 1 criteria provided, single submitter Jun 10, 2011 RCV000844701.1
Conflicting interpretations of pathogenicity 10 criteria provided, conflicting interpretations Jan 11, 2019 RCV000018523.44
Benign 1 no assertion criteria provided Dec 22, 2016 RCV000487479.2
Uncertain significance 1 no assertion criteria provided Dec 29, 2017 RCV000678866.1

Clinical features observed in individuals with this variant

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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GJB2 Dosage sensitivity unlikely No evidence available GRCh38
GRCh37
296 345

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jun 24, 2019)
reviewed by expert panel
Method: curation
Nonsyndromic hearing loss and deafness
(Autosomal recessive inheritance)
Allele origin: germline
ClinGen Hearing Loss Variant Curation Expert Panel,
FDA Recognized Database
Accession: SCV000927015.1
Submitted: (Jul 18, 2019)
Evidence details
Publications
PubMed (3)
Other databases
https://erepo.clinicalgenome.o...
Comment:
The filtering allele frequency (the lower threshold of the 95% CI of 510/25108) of the c.101T>C (p.Met34Thr) variant in the GJB2 gene is 1.46% for ... (more)
Pathogenic
(Oct 21, 2015)
criteria provided, single submitter
Method: clinical testing
Deafness, autosomal recessive 1A
(Autosomal recessive inheritance)
Allele origin: germline
Molecular Otolaryngology and Renal Research Laboratories,University of Iowa Hospital and Clinics
Accession: SCV000264324.1
Submitted: (Dec 28, 2015)
Evidence details
Publications
PubMed (2)
Comment:
This variant has required extensive investigation to determine its clinical significance. It does have high minor allele frequency in several populations (including 2.2% in the ... (more)
Likely benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000309913.1
Submitted: (Apr 28, 2016)
Evidence details
Uncertain significance
(May 09, 2017)
criteria provided, single submitter
Method: clinical testing
Deafness, autosomal recessive 1A
Allele origin: germline
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia
Accession: SCV000599729.1
Submitted: (May 17, 2017)
Evidence details
Pathogenic
(Feb 17, 2016)
criteria provided, single submitter
Method: clinical testing
Deafness, autosomal recessive 1A
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000193154.2
Submitted: (Oct 04, 2017)
Evidence details
Pathogenic
(Sep 19, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000841697.1
Submitted: (Aug 31, 2018)
Evidence details
Publications
PubMed (79)
Pathogenic
(May 04, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000603813.2
Submitted: (Oct 10, 2018)
Evidence details
Pathogenic
(Dec 11, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000321726.7
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The M34T pathogenic variant in the GJB2 gene has been reported extensively in association with autosomal recessive non-syndromic sensorineural hearing loss (NSHL) and is associated ... (more)
Pathogenic
(Jun 10, 2011)
criteria provided, single submitter
Method: clinical testing
Rare genetic deafness
(Autosomal recessive inheritance)
Allele origin: germline
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine
Accession: SCV000061472.5
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (19)
Comment:
The p.Met34Thr variant in GJB2 is well-established as a pathogenic variant. This variant, in homozygosity or in combination with another GJB2 variant, is common ly ... (more)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Ichthyosis, Hystrix-like, with Deafness
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000383044.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Nonsyndromic Hearing Loss, Dominant
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000383041.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Keratitis-Ichthyosis-Deafness Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000383042.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Vohwinkel Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000383040.2
Submitted: (Oct 18, 2016)
Evidence details
Likely pathogenic
(Mar 14, 2016)
criteria provided, single submitter
Method: clinical testing
Deafness, autosomal recessive 1A
Allele origin: germline
Knight Diagnostic Laboratories,Oregon Health and Sciences University
Study: CSER-NextGen
Accession: SCV000538034.1
Submitted: (Aug 10, 2016)
Evidence details
Comment:
The c.101T>C (p.Met34Thr) missense variant in the GJB2gene has been previously reported in numerous individuals with autosomal recessive Nonsyndromic hearing loss and has been shown ... (more)
Pathogenic
(Apr 07, 2017)
criteria provided, single submitter
Method: clinical testing
Deafness, autosomal recessive 1A
Allele origin: unknown
Counsyl
Accession: SCV000678057.1
Submitted: (Jun 22, 2017)
Evidence details
Publications
PubMed (6)
Comment:
M34T is associated with a variable presentation, ranging from clinically asymptomatic to severe hearing loss.
Likely pathogenic
(Jun 12, 2017)
criteria provided, single submitter
Method: clinical testing
Deafness, autosomal recessive 1A
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000383043.3
Submitted: (Feb 01, 2019)
Evidence details
Publications
PubMed (11)
Comment:
Across a selection of literature, the GJB2 c.101T>C (p.Met34Thr) missense variant has been identified in at least 119 patients with an autosomal recessive form of ... (more)
Pathogenic
(Dec 13, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
Accession: SCV000700273.2
Submitted: (Jun 30, 2017)
Evidence details
Other databases
http://www.egl-eurofins.com/em...
Pathogenic
(Jan 11, 2019)
criteria provided, single submitter
Method: clinical testing
Deafness, autosomal recessive 1A
Allele origin: germline
Integrated Genetics/Laboratory Corporation of America
Accession: SCV000698223.3
Submitted: (Sep 24, 2019)
Evidence details
Publications
PubMed (22)
Comment:
Variant summary: GJB2 c.101T>C (p.Met34Thr) results in a non-conservative amino acid change located in the Connexin, N-terminal (IPR013092) of the encoded protein sequence. Four of ... (more)
Uncertain significance
(Oct 02, 2014)
no assertion criteria provided
Method: literature only
RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
Allele origin: germline
OMIM
Accession: SCV000038805.3
Submitted: (Oct 28, 2014)
Evidence details
Publications
PubMed (14)
Uncertain significance
(Dec 29, 2017)
no assertion criteria provided
Method: clinical testing
Hearing loss
Allele origin: germline
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital
Accession: SCV000805059.1
Submitted: (Jul 17, 2018)
Evidence details
pathologic
(Jul 14, 2011)
no assertion criteria provided
Method: curation
DFNB 1 Nonsyndromic Hearing Loss and Deafness
Allele origin: not provided
GeneReviews
Accession: SCV000041038.2
Submitted: (Dec 02, 2013)
Evidence details
Comment:
Converted during submission to Pathogenic.
Pathogenic
(Jun 10, 2015)
no assertion criteria provided
Method: research
Deafness, autosomal recessive 1A
Allele origin: germline
Division of Human Genetics,Children's Hospital of Philadelphia
Study: CSER-PediSeq
Accession: SCV000238468.1
Submitted: (Jun 26, 2015)
Evidence details
Publications
PubMed (4)
Comment:
The GJB2 variant (c.101T>C; p.Met34Thr) was identified in several individuals with hearing loss and segregated in families with mild non-syndromic hearing loss (Lopponen et. al ... (more)
Benign
(Dec 22, 2016)
no assertion criteria provided
Method: literature only
Deafness, autosomal dominant 3a
Allele origin: germline
GeneReviews
Accession: SCV000574679.1
Submitted: (Dec 22, 2016)
Evidence details
Other databases
https://www.ncbi.nlm.nih.gov/b...

Citations for this variant

Title Author Journal Year Link
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel. Shen J Genetics in medicine : official journal of the American College of Medical Genetics 2019 PMID: 31160754
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands. Zazo Seco C European journal of human genetics : EJHG 2017 PMID: 28000701
Evaluation of electrocardiographic parameters in patients with hearing loss genotyped for the connexin 26 gene (GJB2) mutations. Sanecka A Brazilian journal of otorhinolaryngology 2017 PMID: 27177978
Altered CO2 sensitivity of connexin26 mutant hemichannels in vitro. de Wolf E Physiological reports 2016 PMID: 27884957
Genetic Basis of Nonsyndromic Sensorineural Hearing Loss in the Sub-Saharan African Island Population of São Tomé and Príncipe: The Role of the DFNB1 Locus? Caroça C Omics : a journal of integrative biology 2016 PMID: 27501294
Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic. Mehta D American journal of medical genetics. Part A 2016 PMID: 27480936
The Yield of Multigene Testing in the Management of Pediatric Unilateral Sensorineural Hearing Loss. Gruber M Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2016 PMID: 27466889
Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic). Barashkov NA PloS one 2016 PMID: 27224056
The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population. Mikstiene V BMC genetics 2016 PMID: 26896187
Prevalence and audiological profiles of GJB2 mutations in a large collective of hearing impaired patients. Burke WF Hearing research 2016 PMID: 26778469
Two molecular assays for the rapid and inexpensive detection of GJB2 and GJB6 mutations. Cascella R Electrophoresis 2016 PMID: 26681637
Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus. Tayoun AN Human mutation 2016 PMID: 26444186
Nonsyndromic Hearing Loss and Deafness, DFNA3 Smith RJH - 2016 PMID: 20301708
Nonsyndromic Hearing Loss and Deafness, DFNB1 Smith RJH - 2016 PMID: 20301449
Prevalence of 35delG and Met34Thr GJB2 variants in Portuguese samples. Dória M International journal of pediatric otorhinolaryngology 2015 PMID: 26482070
The controversial p.Met34Thr variant in GJB2 gene: Two siblings, one genotype, two phenotypes. Lameiras AR International journal of pediatric otorhinolaryngology 2015 PMID: 26117665
Prevalence of Deafness-Associated Connexin-26 (GJB2) and Connexin-30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily. Amorini M Annals of human genetics 2015 PMID: 26096904
Bioinformatic Analysis of GJB2 Gene Missense Mutations. Yilmaz A Cell biochemistry and biophysics 2015 PMID: 25388846
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants. Shearer AE American journal of human genetics 2014 PMID: 25262649
Age-Related Hearing Impairment (ARHI) associated with GJB2 single mutation IVS1+1G>A in the Yakut population isolate in Eastern Siberia. Barashkov NA PloS one 2014 PMID: 24959830
Molecular dynamics simulations highlight structural and functional alterations in deafness-related M34T mutation of connexin 26. Zonta F Frontiers in physiology 2014 PMID: 24624091
Significance of heterozygosis M34T mutation of GJB2 gene in non-syndromic congenital deafness. Retrospective analysis of 12,472 samples of amniotic fluid. Coco M Journal of prenatal medicine 2013 PMID: 24611097
Genetic mutations of GJB2 and mitochondrial 12S rRNA in nonsyndromic hearing loss in Jiangsu Province of China. Wei Q Journal of translational medicine 2013 PMID: 23826813
Connecting with connexins. Williams P The Australasian journal of dermatology 2013 PMID: 23808595
Advancing genetic testing for deafness with genomic technology. Shearer AE Journal of medical genetics 2013 PMID: 23804846
Etiology and audiological outcomes at 3 years for 364 children in Australia. Dahl HH PloS one 2013 PMID: 23555729
A study of GJB2 and delGJB6-D13S1830 mutations in Brazilian non-syndromic deaf children from the Amazon region. Castro LS Brazilian journal of otorhinolaryngology 2013 PMID: 23503914
Prevalence and audiological features in carriers of GJB2 mutations, c.35delG and c.101T>C (p.M34T), in a UK population study. Hall A BMJ open 2012 PMID: 22855627
Homozygous M34T mutation of the GJB2 gene associates with an autosomal recessive nonsyndromic sensorineural hearing impairment in Finnish families. Löppönen T Acta oto-laryngologica 2012 PMID: 22668073
Prevalence of DFNB1 mutations in Slovak patients with non-syndromic hearing loss. Minárik G International journal of pediatric otorhinolaryngology 2012 PMID: 22281373
Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma: More Than a Random Association? Fozza C Case reports in hematology 2011 PMID: 22937313
Assessing Noncoding Sequence Variants of GJB2 for Hearing Loss Association. Matos TD Genetics research international 2011 PMID: 22567369
Mutations of the Connexin 26 gene in families with non-syndromic hearing loss. Al-Achkar W Molecular medicine reports 2011 PMID: 21468573
Vestibular dysfunction in DFNB1 deafness. Dodson KM American journal of medical genetics. Part A 2011 PMID: 21465647
Prevalence of c.35delG and p.M34T mutations in the GJB2 gene in Estonia. Teek R International journal of pediatric otorhinolaryngology 2010 PMID: 20708129
Prevalence of the c.35delG and p.W24X mutations in the GJB2 gene in patients with nonsyndromic hearing loss from North-West Romania. Lazăr C International journal of pediatric otorhinolaryngology 2010 PMID: 20096468
Audiologic phenotype and progression in GJB2 (Connexin 26) hearing loss. Kenna MA Archives of otolaryngology--head & neck surgery 2010 PMID: 20083784
Two novel missense mutations in the connexin 26 gene in Turkish patients with nonsyndromic hearing loss. Yilmaz A Biochemical genetics 2010 PMID: 19941053
The digenic hypothesis unraveled: the GJB6 del(GJB6-D13S1830) mutation causes allele-specific loss of GJB2 expression in cis. Rodriguez-Paris J Biochemical and biophysical research communications 2009 PMID: 19723508
Audiologic and temporal bone imaging findings in patients with sensorineural hearing loss and GJB2 mutations. Lee KH The Laryngoscope 2009 PMID: 19235794
Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort. Cama E International journal of audiology 2009 PMID: 19173109
Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling. Batissoco AC Ear and hearing 2009 PMID: 19125024
Molecular studies in the GJB2 gene (Cx26) among a deaf population from Bogotá, Colombia: results of a screening program. Tamayo ML International journal of pediatric otorhinolaryngology 2009 PMID: 19027181
GJB2 and mitochondrial A1555G gene mutations in nonsyndromic profound hearing loss and carrier frequencies in healthy individuals. Baysal E Journal of genetics 2008 PMID: 18560174
M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance. Pollak A American journal of medical genetics. Part A 2007 PMID: 17935238
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. Putcha GV Genetics in medicine : official journal of the American College of Medical Genetics 2007 PMID: 17666888
GJB2 and GJB6 mutations in children with congenital cytomegalovirus infection. Ross SA Pediatric research 2007 PMID: 17426645
Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment. Samanich J American journal of medical genetics. Part A 2007 PMID: 17357124
DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls. Tang HY American journal of medical genetics. Part A 2006 PMID: 17041943
Pathogenetic role of the deafness-related M34T mutation of Cx26. Bicego M Human molecular genetics 2006 PMID: 16849369
Outcomes of clinical examination and genetic testing of 500 individuals with hearing loss evaluated through a genetics of hearing loss clinic. Yaeger D American journal of medical genetics. Part A 2006 PMID: 16532460
Loss of function mutations of the GJB2 gene detected in patients with DFNB1-associated hearing impairment. Palmada M Neurobiology of disease 2006 PMID: 16300957
GJB2 mutations and degree of hearing loss: a multicenter study. Snoeckx RL American journal of human genetics 2005 PMID: 16380907
Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf. Cheng X American journal of medical genetics. Part A 2005 PMID: 16222667
Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia. Gangarossa S International journal of molecular medicine 2005 PMID: 16077952
Cx26 gene mutations in idiopathic progressive hearing loss. Ravecca F The Journal of otolaryngology 2005 PMID: 16076412
Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients. Dalamón V Hearing research 2005 PMID: 15964725
Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations. Santos RL International journal of pediatric otorhinolaryngology 2005 PMID: 15656949
GJB2: the spectrum of deafness-causing allele variants and their phenotype. Azaiez H Human mutation 2004 PMID: 15365987
Occurrence of del(GIB6-D13S1830) mutation in Italian non-syndromic hearing loss patients carrying a single GJB2 mutated allele. Gualandi E Acta oto-laryngologica. Supplementum 2004 PMID: 15219044
GJB2 mutations in patients with non-syndromic hearing loss from Northeastern Hungary. Tóth T Human mutation 2004 PMID: 15146474
Molecular epidemiology of DFNB1 deafness in France. Roux AF BMC medical genetics 2004 PMID: 15070423
Aberrant gating, but a normal expression pattern, underlies the recessive phenotype of the deafness mutant Connexin26M34T. Skerrett IM FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2004 PMID: 15033936
Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene. Feldmann D European journal of human genetics : EJHG 2004 PMID: 14694360
First report of prenatal diagnosis of genetic congenital deafness in a routine prenatal genetic test. Santoro ML Prenatal diagnosis 2003 PMID: 14691997
Connexin 26 mutations and nonsyndromic hearing impairment in northern Finland. Löppönen T The Laryngoscope 2003 PMID: 14520102
Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands. Pandya A Genetics in medicine : official journal of the American College of Medical Genetics 2003 PMID: 12865758
Evaluation of Cx26/GJB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and -493del10. Zoll B Human mutation 2003 PMID: 12497637
Roles of Met-34, Cys-64, and Arg-75 in the assembly of human connexin 26. Implication for key amino acid residues for channel formation and function. Oshima A The Journal of biological chemistry 2003 PMID: 12384501
Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression. Thönnissen E Human genetics 2002 PMID: 12189493
Hearing loss: frequency and functional studies of the most common connexin26 alleles. D'Andrea P Biochemical and biophysical research communications 2002 PMID: 12176036
Prevalence and nature of connexin 26 mutations in children with non-syndromic deafness. Dahl HH The Medical journal of Australia 2001 PMID: 11587277
High frequency of GJB2 gene mutations in Polish patients with prelingual nonsyndromic deafness. Wiszniewski W Genetic testing 2001 PMID: 11551103
Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling. Marlin S Archives of otolaryngology--head & neck surgery 2001 PMID: 11493200
Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss. Houseman MJ Journal of medical genetics 2001 PMID: 11134236
[Hereditary hearing impairment. Mutation analysis of connexin 26 and POU3F4 genes in Icelanders with nonsyndromic hearing impairment.]. Olafsson I Laeknabladid 2000 PMID: 17018967
The M34T allele variant of connexin 26. Cucci RA Genetic testing 2000 PMID: 11216656
Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins. Rabionet R Human mutation 2000 PMID: 10980526
Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT. Griffith AJ American journal of human genetics 2000 PMID: 10903123
High frequency hearing loss correlated with mutations in the GJB2 gene. Wilcox SA Human genetics 2000 PMID: 10830906
Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. Kelsell DP European journal of human genetics : EJHG 2000 PMID: 10757647
Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness. Martin PE Human molecular genetics 1999 PMID: 10556284
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. Green GE JAMA 1999 PMID: 10376574
Connexin mutations in deafness. White TW Nature 1998 PMID: 9716127
Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss. Scott DA Human mutation 1998 PMID: 9600457
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Kelley PM American journal of human genetics 1998 PMID: 9529365
Connexin mutations and hearing loss. Scott DA Nature 1998 PMID: 9422505
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Kelsell DP Nature 1997 PMID: 9139825
Palmoplantar keratoderma, deafness and atopy. Verbov J The British journal of dermatology 1987 PMID: 2956987
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=GJB2 - - - -
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/e8b1ce82-bc97-4baf-b442-294c2a6849cd - - - -
https://www.ncbi.nlm.nih.gov/books/NBK1536/ - - - -

Record last updated Nov 07, 2019