Full data view for gene GJB2

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

560 entries on 6 pages. Showing entries 1 - 100.
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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     
-/. 1 c.-216T>G r.(?) p.(=) Unknown - benign g.20767115A>C g.20192976A>C - - GJB2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1 c.-205T>G r.(?) p.(=) Unknown - likely benign g.20767104A>C g.20192965A>C - - GJB2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.-127G>C r.(?) p.(=) Unknown - benign g.20767026C>G g.20192887C>G - - GJB2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1 c.-45C>A r.(?) p.(=) Unknown - likely benign g.20766944G>T g.20192805G>T GJB2(NM_004004.6):c.-45C>A - GJB2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.-45C>A r.(?) p.(=) Unknown - benign g.20766944G>T g.20192805G>T GJB2(NM_004004.6):c.-45C>A - GJB2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1 c.-35C>T r.(?) p.(=) Unknown - likely benign g.20766934G>A g.20192795G>A - - GJB2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1i c.-23+1G>A r.spl? p.? Parent #1 - likely pathogenic g.20766921C>T g.20192782C>T - - GJB2_000011 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - - - DNA SEQ-NG - - deafness - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - 1 Mieke Wesdorp
+/. 1i c.-23+1G>A r.spl? p.? Unknown - pathogenic g.20766921C>T g.20192782C>T - - GJB2_000011 - PubMed: Baux 2017, Journal: Baux 2017 - rs80338940 Germline/De novo (untested) - - - - - DNA SEQ - - deafness S1754 PubMed: Baux 2017, Journal: Baux 2017 Proband F no France - - - - - 1 David Baux
+/. 1i c.-23+1G>A r.spl? p.? Unknown - pathogenic g.20766921C>T g.20192782C>T GJB2(NM_004004.6):c.-23+1G>A - GJB2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.-23+1G>A r.spl? p.? Unknown - pathogenic g.20766921C>T g.20192782C>T GJB2(NM_004004.6):c.-23+1G>A - GJB2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1i c.-23+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.20766921C>T g.20192782C>T - - GJB2_000011 - 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.-23+1G>A r.spl? p.? Parent #1 - pathogenic g.20766921C>T g.20192782C>T - - GJB2_000011 12 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs80338940 Germline - 12/2787 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 12 Mohammed Faruq
+?/. - c.-23+1G>A r.spl p.? Parent #2 - likely pathogenic (recessive) g.20766921C>T g.20192782C>T - - GJB2_000011 ACMG PVS1, PP5, PM2, BP4 PubMed: Schuermans 2022 - - Germline - - - - - DNA SEQ - targeted gene analysis ? Pat20 PubMed: Schuermans 2022 analysis 329 adult patients suffering from undiagnosed rare disease M - Belgium - - - - - 1 Johan den Dunnen
+/. - c.-23+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.20766921C>T g.20192782C>T - - GJB2_000011 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4551B PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.-23+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.20766921C>T g.20192782C>T - - GJB2_000011 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4582 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
-?/. 1i c.-23+12G>A r.(=) p.(=) Unknown - likely benign g.20766910C>T g.20192771C>T - - GJB2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.-22-12C>T r.(=) p.(=) Unknown - benign g.20763754G>A g.20189615G>A - - GJB2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1i c.-22-6T>C r.(=) p.(=) Unknown - likely benign g.20763748A>G g.20189609A>G GJB2(NM_004004.6):c.-22-6T>C - GJB2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-22-6T>C r.(=) p.(=) Unknown - likely benign g.20763748A>G - GJB2(NM_004004.6):c.-22-6T>C - GJB2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.-22-2A>C r.spl? p.? Unknown - likely pathogenic g.20763744T>G g.20189605T>G GJB2(NM_004004.6):c.-22-2A>C - GJB2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.-22-2A>C r.spl p.0? Unknown - pathogenic (recessive) g.20763744T>G g.20189605T>G - - GJB2_000058 - - 551912 rs201895089 Germline ? - - - - DNA SEQ-NG-I blood - deafness - - - M ? Argentina - 38y - - - 1 Viviana Karina Dalamón
+?/. - c.-22-2A>C r.spl? p.? Unknown - likely pathogenic g.20763744T>G - GJB2(NM_004004.6):c.-22-2A>C - GJB2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-15C>T r.(?) p.(=) Unknown - benign g.20763735G>A g.20189596G>A - - GJB2_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.-6T>A r.(?) p.(=) Unknown - benign g.20763726A>T g.20189587A>T - - GJB2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1G>A r.(?) p.(=) Unknown - likely benign g.20763721C>T - GJB2(NM_004004.5):c.-1G>A (p.?) - GJB2_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.1A>G r.(?) p.(Met1?) Unknown - pathogenic g.20763720T>C g.20189581T>C - - GJB2_000031 - PubMed: Baux 2017, Journal: Baux 2017 - rs111033293 Germline/De novo (untested) - - - - - DNA SEQ - - deafness S1694 PubMed: Baux 2017, Journal: Baux 2017 Proband F ? France - - - - - 1 David Baux
+?/. - c.1A>G r.(?) p.(Met1?) Parent #1 - likely pathogenic g.20763720T>C g.20189581T>C - - GJB2_000031 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs111033293 Germline - 5/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
+/. - c.1A>G r.(?) p.? Unknown - pathogenic g.20763720T>C - GJB2(NM_004004.6):c.1A>G (p.(Met1?)) - GJB2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.11G>A r.(?) p.(Gly4Asp) Unknown - likely benign g.20763710C>T g.20189571C>T GJB2(NM_004004.6):c.11G>A (p.G4D) - GJB2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.11G>A r.(?) p.(Gly4Asp) Unknown - likely benign g.20763710C>T g.20189571C>T GJB2(NM_004004.6):c.11G>A (p.G4D) - GJB2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.11G>A r.(?) p.(Gly4Asp) Unknown - likely benign g.20763710C>T - GJB2(NM_004004.6):c.11G>A (p.G4D) - GJB2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.16C>G r.(?) p.(Leu6Val) Unknown - likely pathogenic g.20763705G>C g.20189566G>C - - GJB2_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.23C>T r.(?) p.(Trp8Met) Parent #2 - pathogenic (recessive) g.20763698G>A g.20189559G>A - - GJB2_000084 - 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.23C>T r.(?) p.(Thr8Met) Unknown - VUS g.20763698G>A - GJB2(NM_004004.5):c.23C>T (p.(Thr8Met)) - GJB2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2 c.24G>A r.(=) p.(=) Parent #1 - likely benign g.20763697C>T g.20189558C>T - - GJB2_000075 - PubMed: Dalamon 2013 - - Germline - 1/74 cases - - - DNA SEQ - - deafness 24158611-Pat PubMed: Dalamon 2013 - - - Argentina - - - - - 1 Viviana Karina Dalamón
-?/. - c.24G>A r.(?) p.(Thr8=) Unknown - likely benign g.20763697C>T g.20189558C>T - - GJB2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.29T>C r.(?) p.(Leu10Pro) Parent #1 - pathogenic (dominant) g.20763692A>G g.20189553A>G - - GJB2_000077 - PubMed: Dalamon 2013 - - Germline - - - - - DNA SEQ - - deafness 24158611-Pat PubMed: Dalamon 2013 - - - Argentina - - - - - 1 Viviana Karina Dalamón
+/. - c.31_68del r.(?) p.(Gly11Leufs*24) Unknown ACMG pathogenic g.20763653_20763690del g.20189514_20189551del - - GJB2_000055 ACMG grading: PVS1,PM2,PM3,PP1; no second variant detected in GJB2; Snoeckx et al. 2005. Am J Hum Genet 6: 945; Dodson et al. 2011. Am J Hum Genet 5: 993 - - rs397516873 Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
+?/. - c.32G>A r.(?) p.(Gly11Glu) Unknown ACMG likely pathogenic g.20763689C>T g.20189550C>T - - GJB2_000016 - PubMed: Trujillano 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - - KIDAD - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - 1 Daniel Trujillano
+/+ 2 c.35del r.(?) p.(Gly12Valfs*2) Both (homozygous) - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - - - rs80338939 Germline yes - - - - DNA SEQ - - DFNB;ARNSHL - - 2 families, 10 affecteds - - (Pakistan) - - - - - 10 Atteeq Rehman
+/+ 2 c.35del r.(?) p.(Gly12Valfs*2) Parent #1 - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 disease caused by di-genic inheritance PubMed: del Castillo 2002, Journal: del Castillo 2002 - - Germline yes - - - - DNA PCR, SEQ, Southern - - DFNB1A - PubMed: del Castillo 2002, Journal: del Castillo 2002 2-generation family, affected mother and father (parents of daugthers II1/2) - no Spain - - - - - 2 Johan den Dunnen
+/+ 2 c.35del r.(?) p.(Gly12Valfs*2) Parent #1 - pathogenic g.20763691del g.20189552del - - GJB2_000001 disease caused by di-genic inheritance PubMed: del Castillo 2005, Journal: del Castillo 2005 - - Germline ? - - - - DNA PCR, SEQ, Southern - - DFNB1B - PubMed: del Castillo 2005, Journal: del Castillo 2005 ARNSHI cases from Spain ? no Spain - - - - - 10 Johan den Dunnen
+/+ 2 c.35del r.35del p.Gly12Valfs*2 Paternal (confirmed) - pathogenic g.20763691del g.20189552del - - GJB2_000001 - PubMed: Lerer 2001, Journal: Lerer 2001 - - Germline yes - - - - DNA, RNA PCR, RT-PCR, SEQ, Southern - - DFNB;ARNSHL - PubMed: Lerer 2001, Journal: Lerer 2001 2-generation family, affected daugther (II4), unaffected heterozygous carrier mother (father I1, brother II3) F no Israel Jewish-Ashkenazi - - - - 3 Johan den Dunnen
+/+ 2 c.35del r.(?) p.(Gly12Valfs*2) Parent #1 - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: Lerer 2001, Journal: Lerer 2001 - - Germline yes - - - - DNA SEQ - - DFNB;ARNSHL - PubMed: Lerer 2001, Journal: Lerer 2001 2-generation family, affected father (I1), affected son (II3) and daugther (II4) M no Israel Jewish-Ashkenazi - - - - 1 Johan den Dunnen
./. 2 c.35del r.(?) p.(Gly12Valfs*2) Both (homozygous) - - g.20763691del g.20189552del - - GJB2_000007 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+?/+ 2 c.35del r.(?) p.(Gly12Valfs*2) Parent #1 - likely pathogenic g.20763691del g.20189552del - - GJB2_000001 - 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.35del r.(?) p.(Gly12Valfs*2) Parent #1 - likely pathogenic g.20763691del g.20189552del - - GJB2_000001 - 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.35del r.(?) p.(Gly12Valfs*2) Parent #2 - likely pathogenic g.20763691del g.20189552del - - GJB2_000001 - 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.35del r.(?) p.(Gly12Valfs*2) Parent #2 - likely pathogenic g.20763691del g.20189552del - - GJB2_000001 - 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.35del r.(?) p.(Gly12Valfs*2) Parent #1 - likely pathogenic g.20763691del g.20189552del - - GJB2_000001 - 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.35del r.(?) p.(Gly12Valfs*2) Parent #1 - likely pathogenic g.20763691del g.20189552del - - GJB2_000001 - 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.35del r.(?) p.(Gly12Valfs*2) Unknown - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: Baux 2017, Journal: Baux 2017 - rs1801002 Germline/De novo (untested) - - - - - DNA SEQ - - deafness S1504 PubMed: Baux 2017, Journal: Baux 2017 Proband M no France - - - - - 1 David Baux
+/. 2 c.35del r.(?) p.(Gly12Valfs*2) Both (homozygous) - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: Baux 2017, Journal: Baux 2017 - rs1801002 Germline/De novo (untested) - - - - - DNA SEQ - - deafness S1528 PubMed: Baux 2017, Journal: Baux 2017 Proband M - France - - - - - 1 David Baux
+/. 2 c.35del r.(?) p.(Gly12Valfs*2) Both (homozygous) - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: Baux 2017, Journal: Baux 2017 - rs1801002 Germline/De novo (untested) - - - - - DNA SEQ - - deafness S1534 PubMed: Baux 2017, Journal: Baux 2017 Proband F ? France - - - - - 1 David Baux
+/. 2 c.35del r.(?) p.(Gly12Valfs*2) Both (homozygous) - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: Baux 2017, Journal: Baux 2017 - rs1801002 Germline/De novo (untested) - - - - - DNA SEQ - - deafness S1547 PubMed: Baux 2017, Journal: Baux 2017 Proband M - - - - - - - 1 David Baux
+/. 2 c.35del r.(?) p.(Gly12Valfs*2) Unknown - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: Baux 2017, Journal: Baux 2017 - rs1801002 Germline/De novo (untested) - - - - - DNA SEQ - - deafness S1550 PubMed: Baux 2017, Journal: Baux 2017 Proband M no France - - - - - 1 David Baux
+/. 2 c.35del r.(?) p.(Gly12Valfs*2) Maternal (confirmed) - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: Baux 2017, Journal: Baux 2017 - rs1801002 Germline yes - - - - DNA SEQ - - deafness S1563 PubMed: Baux 2017, Journal: Baux 2017 Proband F no France - - - - - 1 David Baux
+/. 2 c.35del r.(?) p.(Gly12Valfs*2) Unknown - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: Baux 2017, Journal: Baux 2017 - rs1801002 Germline yes - - - - DNA SEQ - - deafness S1567 PubMed: Baux 2017, Journal: Baux 2017 Proband M ? France - - - - - 1 David Baux
+/. 2 c.35del r.(?) p.(Gly12Valfs*2) Both (homozygous) - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: Baux 2017, Journal: Baux 2017 - rs1801002 Germline yes - - - - DNA SEQ - - deafness S1577 PubMed: Baux 2017, Journal: Baux 2017 Proband M ? France - - - - - 1 David Baux
+/. 2 c.35del r.(?) p.(Gly12Valfs*2) Paternal (confirmed) - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: Baux 2017, Journal: Baux 2017 - rs1801002 Germline yes - - - - DNA SEQ - - deafness S1578 PubMed: Baux 2017, Journal: Baux 2017 Proband M ? Turkey - - - - - 1 David Baux
+/. 2 c.35del r.(?) p.(Gly12Valfs*2) Paternal (confirmed) - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: Baux 2017, Journal: Baux 2017 - rs1801002 Germline yes - - - - DNA SEQ - - deafness S1579 PubMed: Baux 2017, Journal: Baux 2017 Proband M ? - - - - - - 1 David Baux
+/. 2 c.35del r.(?) p.(Gly12Valfs*2) Unknown - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: Baux 2017, Journal: Baux 2017 - rs1801002 Germline/De novo (untested) - - - - - DNA SEQ - - deafness S1584 PubMed: Baux 2017, Journal: Baux 2017 Proband M no France - - - - - 1 David Baux
+/. 2 c.35del r.(?) p.(Gly12Valfs*2) Both (homozygous) - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: Baux 2017, Journal: Baux 2017 - rs1801002 Germline yes - - - - DNA SEQ - - deafness S1594 PubMed: Baux 2017, Journal: Baux 2017 Proband M ? France - - - - - 1 David Baux
+/. 2 c.35del r.(?) p.(Gly12Valfs*2) Both (homozygous) - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: Baux 2017, Journal: Baux 2017 - rs1801002 Germline/De novo (untested) - - - - - DNA SEQ - - deafness S1599 PubMed: Baux 2017, Journal: Baux 2017 Proband M ? France - - - - - 1 David Baux
+/. 2 c.35del r.(?) p.(Gly12Valfs*2) Paternal (confirmed) - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: Baux 2017, Journal: Baux 2017 - rs1801002 Germline yes - - - - DNA SEQ - - deafness S1604 PubMed: Baux 2017, Journal: Baux 2017 Proband M no France - - - - - 1 David Baux
+/. 2 c.35del r.(?) p.(Gly12Valfs*2) Maternal (confirmed) - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: Baux 2017, Journal: Baux 2017 - rs1801002 Germline yes - - - - DNA SBE - - deafness S1621 PubMed: Baux 2017, Journal: Baux 2017 Proband M no France - - - - - 1 David Baux
+/. 2 c.35del r.(?) p.(Gly12Valfs*2) Both (homozygous) - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: Baux 2017, Journal: Baux 2017 - rs1801002 Germline yes - - - - DNA SEQ - - deafness S1635 PubMed: Baux 2017, Journal: Baux 2017 Proband M ? France - - - - - 1 David Baux
+/. 2 c.35del r.(?) p.(Gly12Valfs*2) Unknown - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: Baux 2017, Journal: Baux 2017 - rs1801002 Germline/De novo (untested) - - - - - DNA SEQ - - deafness S1636 PubMed: Baux 2017, Journal: Baux 2017 Proband M no France - - - - - 1 David Baux
+/. 2 c.35del r.(?) p.(Gly12Valfs*2) Both (homozygous) - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: Baux 2017, Journal: Baux 2017 - rs1801002 Germline yes - - - - DNA SEQ - - deafness S1647 PubMed: Baux 2017, Journal: Baux 2017 Proband M ? France - - - - - 1 David Baux
+/. 2 c.35del r.(?) p.(Gly12Valfs*2) Unknown - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: Baux 2017, Journal: Baux 2017 - rs1801002 Germline/De novo (untested) - - - - - DNA SEQ - - deafness S1654 PubMed: Baux 2017, Journal: Baux 2017 Proband M no France - - - - - 1 David Baux
+/. 2 c.35del r.(?) p.(Gly12Valfs*2) Unknown - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: Baux 2017, Journal: Baux 2017 - rs1801002 Germline/De novo (untested) - - - - - DNA SEQ - - deafness S1685 PubMed: Baux 2017, Journal: Baux 2017 Proband M no France - - - - - 1 David Baux
+/. 2 c.35del r.(?) p.(Gly12Valfs*2) Both (homozygous) - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: Baux 2017, Journal: Baux 2017 - rs1801002 Germline yes - - - - DNA SEQ - - deafness S1589 PubMed: Baux 2017, Journal: Baux 2017 Proband M ? Portugal - - - - - 1 David Baux
+/. 2 c.35del r.(?) p.(Gly12Valfs*2) Unknown - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: Baux 2017, Journal: Baux 2017 - rs1801002 Germline/De novo (untested) - - - - - DNA SEQ - - deafness S1694 PubMed: Baux 2017, Journal: Baux 2017 Proband F ? France - - - - - 1 David Baux
+/. 2 c.35del r.(?) p.(Gly12Valfs*2) Maternal (confirmed) - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: Baux 2017, Journal: Baux 2017 - rs1801002 Germline yes - - - - DNA SEQ - - deafness S1705 PubMed: Baux 2017, Journal: Baux 2017 Proband F no France - - - - - 1 David Baux
+/. 2 c.35del r.(?) p.(Gly12Valfs*2) Paternal (confirmed) - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: Baux 2017, Journal: Baux 2017 - rs1801002 Germline yes - - - - DNA SEQ - - deafness S1715 PubMed: Baux 2017, Journal: Baux 2017 Proband M no France - - - - - 1 David Baux
+/. 2 c.35del r.(?) p.(Gly12Valfs*2) Maternal (confirmed) - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: Baux 2017, Journal: Baux 2017 - rs1801002 Germline yes - - - - DNA SEQ - - deafness S1716 PubMed: Baux 2017, Journal: Baux 2017 Proband F no France - - - - - 1 David Baux
+/. 2 c.35del r.(?) p.(Gly12Valfs*2) Both (homozygous) - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: Baux 2017, Journal: Baux 2017 - rs1801002 Germline yes - - - - DNA SEQ - - deafness S1720 PubMed: Baux 2017, Journal: Baux 2017 Proband M no France - - - - - 1 David Baux
+/. 2 c.35del r.(?) p.(Gly12Valfs*2) Both (homozygous) - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: Baux 2017, Journal: Baux 2017 - rs1801002 Germline yes - - - - DNA SEQ - - deafness S1727 PubMed: Baux 2017, Journal: Baux 2017 Proband F ? France - - - - - 1 David Baux
+/. 2 c.35del r.(?) p.(Gly12Valfs*2) Unknown - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: Baux 2017, Journal: Baux 2017 - rs1801002 Germline/De novo (untested) - - - - - DNA SEQ - - deafness S1735 PubMed: Baux 2017, Journal: Baux 2017 Proband M no France - - - - - 1 David Baux
+/. 2 c.35del r.(?) p.(Gly12Valfs*2) Both (homozygous) - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: Baux 2017, Journal: Baux 2017 - rs1801002 Germline yes - - - - DNA SEQ - - deafness S1740 PubMed: Baux 2017, Journal: Baux 2017 Proband F ? France - - - - - 1 David Baux
+/. 2 c.35del r.(?) p.(Gly12Valfs*2) Unknown - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: Baux 2017, Journal: Baux 2017 - rs1801002 Germline/De novo (untested) - - - - - DNA SEQ - - deafness S1754 PubMed: Baux 2017, Journal: Baux 2017 Proband F no France - - - - - 1 David Baux
+/. 2 c.35del r.(?) p.(Gly12Valfs*2) Maternal (confirmed) - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: Baux 2017, Journal: Baux 2017 - rs1801002 Germline yes - - - - DNA SEQ - - deafness S1768 PubMed: Baux 2017, Journal: Baux 2017 Proband M no France - - - - - 1 David Baux
+/. 2 c.35del r.(?) p.(Gly12Valfs*2) Paternal (confirmed) - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: Baux 2017, Journal: Baux 2017 - rs1801002 Germline yes - - - - DNA SEQ - - deafness S1771 PubMed: Baux 2017, Journal: Baux 2017 Proband F no France - - - - - 1 David Baux
+/. 2 c.35del r.(?) p.(Gly12Valfs*2) Both (homozygous) - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: Baux 2017, Journal: Baux 2017 - rs1801002 Germline yes - - - - DNA SEQ - - deafness S1790 PubMed: Baux 2017, Journal: Baux 2017 Proband M ? Morocco - - - - - 1 David Baux
+/. 2 c.35del r.(?) p.(Gly12Valfs*2) Maternal (confirmed) - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: Baux 2017, Journal: Baux 2017 - rs1801002 Germline yes - - - - DNA SEQ - - deafness S1791 PubMed: Baux 2017, Journal: Baux 2017 Proband F no France - - - - - 1 David Baux
+/. 2 c.35del r.(?) p.(Gly12Valfs*2) Unknown - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: Baux 2017, Journal: Baux 2017 - rs1801002 Germline/De novo (untested) - - - - - DNA SEQ - - deafness S1795 PubMed: Baux 2017, Journal: Baux 2017 Proband F ? France - - - - - 1 David Baux
+/. 2 c.35del r.(?) p.(Gly12Valfs*2) Unknown - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: Baux 2017, Journal: Baux 2017 - rs1801002 Germline/De novo (untested) - - - - - DNA SEQ - - deafness S1820 PubMed: Baux 2017, Journal: Baux 2017 Proband M no France - - - - - 1 David Baux
+/. 2 c.35del r.(?) p.(Gly12Valfs*2) Both (homozygous) - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: Baux 2017, Journal: Baux 2017 - rs1801002 Germline/De novo (untested) - - - - - DNA SEQ - - deafness S1825 PubMed: Baux 2017, Journal: Baux 2017 Proband F ? France - - - - - 1 David Baux
+/. 2 c.35del r.(?) p.(Gly12Valfs*2) Both (homozygous) - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: Baux 2017, Journal: Baux 2017 - rs1801002 Germline yes - - - - DNA SEQ - - deafness S1851 PubMed: Baux 2017, Journal: Baux 2017 Proband M ? France - - - - - 1 David Baux
+/. 2 c.35del r.(?) p.(Gly12Valfs*2) Both (homozygous) - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: Baux 2017, Journal: Baux 2017 - rs1801002 Germline/De novo (untested) - - - - - DNA SEQ - - deafness S1854 PubMed: Baux 2017, Journal: Baux 2017 Proband F ? France - - - - - 1 David Baux
+/. 2 c.35del r.(?) p.(Gly12Valfs*2) Maternal (confirmed) - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: Baux 2017, Journal: Baux 2017 - rs1801002 Germline yes - - - - DNA SEQ - - deafness S1872 PubMed: Baux 2017, Journal: Baux 2017 Proband M no France - - - - - 1 David Baux
+/. 2 c.35del r.(?) p.(Gly12Valfs*2) Unknown - pathogenic g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: Baux 2017, Journal: Baux 2017 - rs1801002 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG-I - gene panel deafness S1566 PubMed: Baux 2017, Journal: Baux 2017 Proband F no France - - - - - 1 David Baux
+/. - c.35del r.(?) p.(Gly12ValfsTer2) Unknown - pathogenic g.20763691del g.20189552del GJB2(NM_004004.6):c.35del (p.(Gly12ValfsTer2)), GJB2(NM_004004.6):c.35delG (p.G12Vfs*2) - GJB2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.35del r.(?) p.(Gly12Valfs*2) Paternal (confirmed) - pathogenic g.20763691del g.20189552del - - GJB2_000001 - PubMed: Papuc 2019 - rs80338939 Germline - - - - - DNA SEQ-NG-I blood WES EE 68944 - - M no Switzerland - - - - - 1 Anaïs Begemann
+/+ 2 c.35del r.(?) p.(Gly12Valfs*2) Parent #1 - pathogenic (recessive) g.20763691del g.20189552del g.8429delG - GJB2_000001 - PubMed: Dalamon 2013 ClinVar-32043 rs80338939 Unknown ? - - - - DNA SEQ blood - deafness 24158611-Pat PubMed: Dalamon 2013 - M ? (Argentina) - ? - - cochlear implant 1 Viviana Karina Dalamón
+/. - c.35del r.(?) p.(Gly12Valfs*2) Parent #1 - pathogenic (recessive) g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: del Castillo 2005 - - Germline - - - - - DNA PCR, SEQ, Southern - - DFNB1B - PubMed: del Castillo 2005, Journal: del Castillo 2005 ARNSHI cases - - Italy - - - - - 1 Johan den Dunnen
+/. - c.35del r.(?) p.(Gly12Valfs*2) Parent #1 - pathogenic (recessive) g.20763691del g.20189552del 35delG - GJB2_000001 - PubMed: del Castillo 2005 - - Germline - - - - - DNA PCR, SEQ, Southern - - DFNB1B - PubMed: del Castillo 2005, Journal: del Castillo 2005 ARNSHI cases - - United Kingdom (Great Britain) - - - - - 4 Johan den Dunnen
+?/+ 2 c.35del r.(?) p.(Gly12Valfs*2) Both (homozygous) - pathogenic (recessive) g.20763691del g.20189552del - - GJB2_000001 - PubMed: Dalamon 2013 - - Germline - 26/476 cases - - - DNA SEQ - - deafness 24158611-Pat PubMed: Dalamon 2013 analysis 476 unrelated non-syndromic deaf individuals - - Argentina - - - - - 1 Viviana Karina Dalamón
+?/+ 2 c.35del r.(?) p.(Gly12Valfs*2) Both (homozygous) - pathogenic (recessive) g.20763691del g.20189552del - - GJB2_000001 - PubMed: Dalamon 2013 - - Germline - 26/476 cases - - - DNA SEQ - - deafness 24158611-Pat PubMed: Dalamon 2013 analysis 476 unrelated non-syndromic deaf individuals - - Argentina - - - - - 1 Viviana Karina Dalamón
+?/+ 2 c.35del r.(?) p.(Gly12Valfs*2) Both (homozygous) - pathogenic (recessive) g.20763691del g.20189552del - - GJB2_000001 - PubMed: Dalamon 2013 - - Germline - 26/476 cases - - - DNA SEQ - - deafness 24158611-Pat PubMed: Dalamon 2013 analysis 476 unrelated non-syndromic deaf individuals - - Argentina - - - - - 1 Viviana Karina Dalamón
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