Full data view for gene GJB2

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

130 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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.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) 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
+?/+ 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
+?/+ 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
+?/+ 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
+?/+ 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
+?/+ 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
+?/+ 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
+?/+ 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
+?/+ 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) Parent #2 - pathogenic (recessive) g.20763691del g.20189552del - - GJB2_000001 - 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.35del r.(?) p.(Gly12Valfs*2) Parent #2 - pathogenic (recessive) g.20763691del g.20189552del - - GJB2_000001 - 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.35del r.(?) p.(Gly12Valfs*2) Parent #2 - pathogenic (recessive) g.20763691del g.20189552del - - GJB2_000001 - 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.35del r.(?) p.(Gly12Valfs*2) Parent #2 - pathogenic (recessive) g.20763691del g.20189552del - - GJB2_000001 - 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.35del r.(?) p.(Gly12Valfs*2) Parent #2 - pathogenic (recessive) g.20763691del g.20189552del - - GJB2_000001 - 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.35del r.(?) p.(Gly12Valfs*2) Parent #2 - pathogenic (recessive) g.20763691del g.20189552del - - GJB2_000001 - 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.35del r.(?) p.(Gly12Valfs*2) Parent #2 - pathogenic (recessive) g.20763691del g.20189552del - - GJB2_000001 - 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.35del r.(?) p.(Gly12Valfs*2) Parent #2 - pathogenic (recessive) g.20763691del g.20189552del - - GJB2_000001 - PubMed: Dalamon 2013 - - Germline - 2/476 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) Parent #2 - pathogenic (recessive) g.20763691del g.20189552del - - GJB2_000001 - PubMed: Dalamon 2013 - - Germline - 2/476 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) Parent #2 - pathogenic (recessive) g.20763691del g.20189552del - - GJB2_000001 - 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.35del r.(?) p.(Gly12Valfs*2) Parent #2 - pathogenic (recessive) g.20763691del g.20189552del - - GJB2_000001 - PubMed: Dalamon 2013 - - Germline - 4/476 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) Parent #2 - pathogenic (recessive) g.20763691del g.20189552del - - GJB2_000001 - PubMed: Dalamon 2013 - - Germline - 4/476 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) Parent #2 - pathogenic (recessive) g.20763691del g.20189552del - - GJB2_000001 - PubMed: Dalamon 2013 - - Germline - 4/476 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) Parent #2 - pathogenic (recessive) g.20763691del g.20189552del - - GJB2_000001 - PubMed: Dalamon 2013 - - Germline - 4/476 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) Parent #2 - pathogenic (recessive) g.20763691del g.20189552del - - GJB2_000001 - 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.35del r.(?) p.(Gly12Valfs*2) Parent #2 - pathogenic (recessive) g.20763691del g.20189552del - - GJB2_000001 - PubMed: Dalamon 2013 - - Germline - 2/476 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) Parent #2 - pathogenic (recessive) g.20763691del g.20189552del - - GJB2_000001 - PubMed: Dalamon 2013 - - Germline - 2/476 cases - - - DNA SEQ - - deafness 24158611-Pat PubMed: Dalamon 2013 analysis 476 unrelated non-syndromic deaf individuals - - Argentina - - - - - 1 Viviana Karina Dalamón
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.