Full data view for gene GJB2

Information The variants shown are described using the NM_004004.5 transcript reference sequence.

29 entries on 1 page. Showing entries 1 - 29.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 2 c.109G>A r.(?) p.(Val37Ile) Parent #2 - likely pathogenic g.20763612C>T g.20189473C>T - - GJB2_000013 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - - - DNA SEQ-NG - - deafness - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - 1 Mieke Wesdorp
+?/. 2 c.109G>A r.(?) p.(Val37Ile) Parent #1 - likely pathogenic g.20763612C>T g.20189473C>T - - GJB2_000013 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - - - DNA SEQ-NG - - deafness - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - 1 Mieke Wesdorp
+?/. 2 c.109G>A r.(?) p.(Val37Ile) Parent #2 - likely pathogenic g.20763612C>T g.20189473C>T - - GJB2_000013 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - - - DNA SEQ-NG - - deafness - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - 1 Mieke Wesdorp
+?/. 2 c.109G>A r.(?) p.(Val37Ile) Parent #2 - likely pathogenic g.20763612C>T g.20189473C>T - - GJB2_000013 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - - - DNA SEQ-NG - - deafness - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - 1 Mieke Wesdorp
+/. - c.109G>A r.(?) p.(Val37Ile) Both (homozygous) - pathogenic g.20763612C>T g.20189473C>T - - GJB2_000013 - PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - - ?, DFNB1A - PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 2-generation family, 1 affected, unaffected heterozygous carrier mother/unaffected homozygous carrier father M no United States Filipino - - - - 1 Johan den Dunnen
+?/. 2 c.109G>A r.(?) p.(Val37Ile) Both (homozygous) - likely pathogenic g.20763612C>T g.20189473C>T - - GJB2_000013 - PubMed: Baux 2017, Journal: Baux 2017 - rs72474224 Germline/De novo (untested) - - - - - DNA SEQ - - deafness S1546 PubMed: Baux 2017, Journal: Baux 2017 Proband F - Algeria - - - - - 1 David Baux
+?/. 2 c.109G>A r.(?) p.(Val37Ile) Both (homozygous) - likely pathogenic g.20763612C>T g.20189473C>T - - GJB2_000013 - PubMed: Baux 2017, Journal: Baux 2017 - rs72474224 Germline/De novo (untested) - - - - - DNA SEQ - - deafness S1674 PubMed: Baux 2017, Journal: Baux 2017 Proband F ? France - - - - - 1 David Baux
+?/. 2 c.109G>A r.(?) p.(Val37Ile) Both (homozygous) - likely pathogenic g.20763612C>T g.20189473C>T - - GJB2_000013 - PubMed: Baux 2017, Journal: Baux 2017 - rs72474224 Germline/De novo (untested) - - - - - DNA SEQ - - deafness S1686 PubMed: Baux 2017, Journal: Baux 2017 Proband M ? - - - - - - 1 David Baux
+/. 2 c.109G>A r.(?) p.(Val37Ile) Paternal (confirmed) - likely pathogenic g.20763612C>T g.20189473C>T - - GJB2_000013 - PubMed: Baux 2017, Journal: Baux 2017 - rs72474224 Germline yes - - - - DNA SEQ - - deafness S1768 PubMed: Baux 2017, Journal: Baux 2017 Proband M no France - - - - - 1 David Baux
+?/. 2 c.109G>A r.(?) p.(Val37Ile) Paternal (confirmed) - likely pathogenic g.20763612C>T g.20189473C>T - - GJB2_000013 - PubMed: Baux 2017, Journal: Baux 2017 - rs72474224 Germline yes - - - - DNA SEQ - - deafness S1801 PubMed: Baux 2017, Journal: Baux 2017 Proband M no France - - - - - 1 David Baux
+/. - c.109G>A r.(?) p.(Val37Ile) Unknown - pathogenic g.20763612C>T g.20189473C>T GJB2(NM_004004.6):c.109G>A (p.V37I, p.(Val37Ile)) - GJB2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.109G>A r.(?) p.(Val37Ile) Unknown - pathogenic g.20763612C>T g.20189473C>T GJB2(NM_004004.6):c.109G>A (p.V37I, p.(Val37Ile)) - GJB2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.109G>A r.(?) p.(Val37Ile) Parent #1 - pathogenic (recessive) g.20763612C>T g.20189473C>T V37I - GJB2_000013 - PubMed: del Castillo 2005 - - Germline - - - - - DNA PCR, SEQ, Southern - - DFNB1B - PubMed: del Castillo 2005, Journal: del Castillo 2005 ARNSHI cases - - Spain - - - - - 1 Johan den Dunnen
+/. - c.109G>A r.(?) p.(Val37Ile) Parent #1 - pathogenic (recessive) g.20763612C>T g.20189473C>T V37I - GJB2_000013 - PubMed: del Castillo 2005 - - Germline - - - - - DNA PCR, SEQ, Southern - - DFNB1B - PubMed: del Castillo 2005, Journal: del Castillo 2005 ARNSHI cases - - Brazil - - - - - 1 Johan den Dunnen
+?/. 2 c.109G>A r.(?) p.(Val37Ile) Parent #1 - pathogenic (recessive) g.20763612C>T g.20189473C>T - - GJB2_000013 - PubMed: Dalamon 2013 - - Germline - 1/476 cases - - - DNA SEQ - - deafness 24158611-Pat PubMed: Dalamon 2013 analysis 476 unrelated non-syndromic deaf individuals - - Argentina - - - - - 1 Viviana Karina Dalamón
+?/. 2 c.109G>A r.(?) p.(Val37Ile) Parent #2 - pathogenic (recessive) g.20763612C>T g.20189473C>T - - GJB2_000013 - PubMed: Dalamon 2013 - - Germline - 1/476 cases - - - DNA SEQ - - deafness 24158611-Pat PubMed: Dalamon 2013 analysis 476 unrelated non-syndromic deaf individuals - - Argentina - - - - - 1 Viviana Karina Dalamón
+?/. 2 c.109G>A r.(?) p.(Val37Ile) Parent #2 - pathogenic (recessive) g.20763612C>T g.20189473C>T - - GJB2_000013 - PubMed: Dalamon 2013 - - Germline - 1/476 cases - - - DNA SEQ - - deafness 24158611-Pat PubMed: Dalamon 2013 analysis 476 unrelated non-syndromic deaf individuals - - Argentina - - - - - 1 Viviana Karina Dalamón
+?/. 2 c.109G>A r.(?) p.(Val37Ile) Parent #2 - pathogenic (recessive) g.20763612C>T g.20189473C>T - - GJB2_000013 - PubMed: Dalamon 2013 - - Germline - 1/476 cases - - - DNA SEQ - - deafness 24158611-Pat PubMed: Dalamon 2013 analysis 476 unrelated non-syndromic deaf individuals - - Argentina - - - - - 1 Viviana Karina Dalamón
+?/. 2 c.109G>A r.(?) p.(Val37Ile) Parent #2 - pathogenic (recessive) g.20763612C>T g.20189473C>T - - GJB2_000013 - PubMed: Dalamon 2013 - - Germline - 1/476 cases - - - DNA SEQ - - deafness 24158611-Pat PubMed: Dalamon 2013 analysis 476 unrelated non-syndromic deaf individuals - - Argentina - - - - - 1 Viviana Karina Dalamón
+/. - c.109G>A r.(?) p.(Val37Ile) Unknown - pathogenic g.20763612C>T g.20189473C>T GJB2(NM_004004.6):c.109G>A (p.V37I, p.(Val37Ile)) - GJB2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.109G>A r.(?) p.(Val37Ile) Unknown - likely pathogenic g.20763612C>T g.20189473C>T GJB2(NM_004004.6):c.109G>A (p.V37I, p.(Val37Ile)) - GJB2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.109G>A r.(?) p.(Val37Ile) Parent #1 - pathogenic g.20763612C>T g.20189473C>T - - GJB2_000013 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs72474224 Germline - 1/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.109G>A r.(?) p.(Val37Ile) Unknown - likely benign g.20763612C>T g.20189473C>T - - GJB2_000013 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.096 - - - DNA SEQ, SEQ-NG - 105 WGS/200 WES Healthy/Control - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - - - - 1 Global Variome, with Curator vacancy
+/. - c.109G>A r.(?) p.(Val37Ile) Unknown - pathogenic g.20763612C>T - GJB2(NM_004004.6):c.109G>A (p.V37I, p.(Val37Ile)) - GJB2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.109G>A r.(?) p.(Val37Ile) Maternal (inferred) - likely pathogenic (recessive) g.20763612C>T - - - GJB2_000013 - PubMed: Yan 2011 - - Germline - - - - - DNA SEQ - - WS FamPatV3 PubMed: Yan 2011 5-generation family, 10 affected (6F, 5M), PatV3 compount heterozygous GJB2 M - China - - - - - 11 Veronique Pingault
+/. - c.109G>A r.(?) p.(Val37Ile) Both (homozygous) - pathogenic (recessive) g.20763612C>T - - - GJB2_000013 - PubMed: Velmans 2012 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD FamPat14 PubMed: Velmans 2012 2-generation family, 2 affected brothers M - Netherlands - - - - - 2 Johan den Dunnen
-?/. - c.109G>A r.(?) p.(Val37Ile) Unknown - likely benign g.20763612C>T g.20189473C>T - - GJB2_000013 - PubMed: Eisenberger 2018 - rs72474224 Germline - - - - - DNA SEQ-NG-I - - DFNA FamPatIV2 PubMed: Eisenberger 2018 4-generation family, 8 affected (4F, 4M) M no Germany white - - - - 8 Hanno Bolz
+/. - c.109G>A r.(?) p.(Val37Ile) Maternal (confirmed) - pathogenic g.20763612C>T g.20189473C>T - - GJB2_000013 - PubMed: Koruga 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WGS NDD patient PubMed: Koruga 2021 2-generation family, 1 affected, unaffected non carrier parents F - Croatia (Hrvatska) - - - - - 1 Johan den Dunnen
+/. - c.109G>A r,(?) p.(Val37Ile) Parent #1 - pathogenic (recessive) g.20763612C>T g.20189473C>T - - GJB2_000013 combination of alleles not reported PubMed: Wu 2019 - - Germline - 1608/1291 cases hearing loss - - - DNA SEQ, SEQ-NG - 213-gene panel HL - PubMed: Wu 2019 analysis 1291 cases hearing loss - - Taiwan - - - - - 1608 Johan den Dunnen
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