Full data view for gene CDH23


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_022124.5 transcript reference sequence.

86 entries on 1 page. Showing entries 1 - 86.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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     
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Paternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous PubMed: von Brederlow 2002 - rs367928692 Germline - 0/100 controls +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: von Brederlow 2002 Proband M - - - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Paternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous PubMed: von Brederlow 2002 - rs367928692 Germline - 0/100 controls +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: von Brederlow 2002 Relative M - - - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Maternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous PubMed: von Brederlow 2002 - rs367928692 Germline - 0/100 controls +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: von Brederlow 2002 Proband M - - - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Maternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous PubMed: von Brederlow 2002 - rs367928692 Germline - 0/100 controls +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: von Brederlow 2002 Relative M - - - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Parent #2 - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 heterozygous PubMed: von Brederlow 2002 - rs367928692 Germline - 0/100 controls +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: von Brederlow 2002 Proband F - - - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Parent #1 - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 heterozygous PubMed: Astuto 2002 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH - PubMed: Astuto 2002 Proband - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Parent #1 - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 heterozygous PubMed: Astuto 2002 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH - PubMed: Astuto 2002 Relative - - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Paternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous PubMed: Astuto 2002 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Astuto 2002 Relative - - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Unknown - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 heterozygous PubMed: Astuto 2002 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Astuto 2002 Proband - - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Paternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous PubMed: Astuto 2002 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Astuto 2002 Proband - - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Parent #2 - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 heterozygous PubMed: Astuto 2002 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH - PubMed: Astuto 2002 Proband - - Spain - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Parent #2 - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 heterozygous PubMed: Astuto 2002 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH - PubMed: Astuto 2002 Relative - - Spain - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Parent #1 - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 heterozygous PubMed: Astuto 2002 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Astuto 2002 Proband - - Germany - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Maternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous PubMed: Astuto 2002 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Astuto 2002 Relative - - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Maternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous PubMed: Astuto 2002 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Astuto 2002 Proband - - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Unknown - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 heterozygous PubMed: Pennings 2004 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Pennings 2004 Relative F - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Unknown - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 heterozygous PubMed: Pennings 2004 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Pennings 2004 Proband M - Netherlands - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Parent #1 - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 heterozygous PubMed: Roux 2006 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Roux 2006 Proband M - France - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Paternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous PubMed: Ebermann 2007 - rs367928692 Germline - 0/200 controls +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Ebermann 2007 Proband - - Canada - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Maternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous PubMed: Ebermann 2007 - rs367928692 Germline - 0/200 controls +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Ebermann 2007 Proband - - Canada - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Paternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous PubMed: Ebermann 2007 - rs367928692 Germline - 0/200 controls +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Ebermann 2007 Proband - - Canada - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Maternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous PubMed: Ebermann 2007 - rs367928692 Germline - 0/200 controls +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Ebermann 2007 Proband - - Canada - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Parent #1 - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 heterozygous PubMed: Ebermann 2007 - rs367928692 Germline - 0/200 controls +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Ebermann 2007 Proband - - Canada - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Paternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous PubMed: Oshima 2008 - rs367928692 Germline - 0/192 controls +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Oshima 2008 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Unknown - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 heterozygous PubMed: Oshima 2008 - rs367928692 Germline - 0/192 controls +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Oshima 2008 Proband - - Spain - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Paternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous PubMed: Oshima 2008 - rs367928692 Germline - 0/192 controls +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Oshima 2008 Proband - - Spain - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Maternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous PubMed: Oshima 2008 - rs367928692 Germline - 0/192 controls +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Oshima 2008 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Maternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous PubMed: Oshima 2008 - rs367928692 Germline - 0/192 controls +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Oshima 2008 Proband - - Spain - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Parent #1 - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 heterozygous PubMed: Jaijo 2010 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Jaijo 2010 Proband - - Spain - - - - - 1 Jose Maria Millan
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Paternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous PubMed: Jaijo 2010 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Jaijo 2010 Proband - - Spain - - - - - 1 Jose Maria Millan
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Parent #2 - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 heterozygous PubMed: Jaijo 2010 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Jaijo 2010 Proband - - Spain - - - - - 1 Jose Maria Millan
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Maternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous PubMed: Jaijo 2010 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Jaijo 2010 Proband - - Spain - - - - - 1 Jose Maria Millan
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Parent #2 - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 heterozygous PubMed: Jaijo 2010 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Jaijo 2010 Proband M - Spain - - - - - 1 Jose Maria Millan
+/+ 46i c.6050-9G>A r.[=, 6050-7_6050-1ins] p.[=, Val2018Alafs*10] Cadherin 19 (1960-2069) Parent #2 - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 heterozygous PubMed: Vaché 2010 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA, RNA RT-PCR, SEQ - - USH1 - PubMed: Roux 2011 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Unknown - pathogenic g.73550880G>A g.71791123G>A 6065-9G>A - CDH23_000007 heterozygous PubMed: Kimberling 2010 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - DFNB - PubMed: Kimberling 2010 Proband - No ophtalmologic examination - - United States - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Paternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous PubMed: Roux 2011 - rs367928692 Germline - 0/100 controls +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Roux 2011 Proband M - Italy - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Maternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous PubMed: Roux 2011 - rs367928692 Germline - 0/100 controls +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Roux 2011 Proband M - Italy - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Parent #2 - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 heterozygous; Pathogenic PubMed: Bonnet 2011 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Bonnet 2011 Proband - - - - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Paternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous; Mutation PubMed: Schultz 2011 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Schultz 2011 Proband F - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Paternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous; Mutation PubMed: Schultz 2011 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Schultz 2011 Relative M - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Paternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous; Mutation PubMed: Schultz 2011 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Schultz 2011 Relative M - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Paternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous; Mutation PubMed: Schultz 2011 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Schultz 2011 Relative M - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Paternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous; Mutation PubMed: Schultz 2011 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Schultz 2011 Proband M - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Paternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous; Mutation PubMed: Schultz 2011 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Schultz 2011 Relative F - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Paternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous; Mutation PubMed: Schultz 2011 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Schultz 2011 Proband F - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Paternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous; Mutation PubMed: Schultz 2011 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Schultz 2011 Relative M - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Paternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous; Mutation PubMed: Schultz 2011 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Schultz 2011 Proband M - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Paternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous; Mutation PubMed: Schultz 2011 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Schultz 2011 Relative M - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Paternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous; Mutation PubMed: Schultz 2011 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Schultz 2011 Relative F - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Paternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous; Mutation PubMed: Schultz 2011 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Schultz 2011 Relative F - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Paternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous; Mutation PubMed: Schultz 2011 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Schultz 2011 Relative F - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Paternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous; Mutation PubMed: Schultz 2011 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Schultz 2011 Proband - sibship 1 M - India - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Paternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous; Mutation PubMed: Schultz 2011 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Schultz 2011 Relative - sibship 1 M - India - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Paternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous; Mutation PubMed: Schultz 2011 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Schultz 2011 Relative - sibship 1 F - India - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Paternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous; Mutation PubMed: Schultz 2011 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Schultz 2011 Relative - sibship 1 M - India - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Maternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous; Mutation PubMed: Schultz 2011 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Schultz 2011 Proband F - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Maternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous; Mutation PubMed: Schultz 2011 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Schultz 2011 Relative M - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Maternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous; Mutation PubMed: Schultz 2011 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Schultz 2011 Relative M - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Maternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous; Mutation PubMed: Schultz 2011 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Schultz 2011 Relative M - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Maternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous; Mutation PubMed: Schultz 2011 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Schultz 2011 Proband M - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Maternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous; Mutation PubMed: Schultz 2011 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Schultz 2011 Relative F - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Maternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous; Mutation PubMed: Schultz 2011 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Schultz 2011 Proband F - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Maternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous; Mutation PubMed: Schultz 2011 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Schultz 2011 Relative M - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Maternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous; Mutation PubMed: Schultz 2011 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Schultz 2011 Proband M - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Maternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous; Mutation PubMed: Schultz 2011 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Schultz 2011 Relative M - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Maternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous; Mutation PubMed: Schultz 2011 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Schultz 2011 Relative F - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Maternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous; Mutation PubMed: Schultz 2011 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Schultz 2011 Relative F - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Maternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous; Mutation PubMed: Schultz 2011 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Schultz 2011 Relative F - Pakistan - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Maternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous; Mutation PubMed: Schultz 2011 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Schultz 2011 Proband - sibship 1 M - India - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Maternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous; Mutation PubMed: Schultz 2011 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Schultz 2011 Relative - sibship 1 M - India - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Maternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous; Mutation PubMed: Schultz 2011 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Schultz 2011 Relative - sibship 1 F - India - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Maternal (inferred) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 homozygous; Mutation PubMed: Schultz 2011 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Schultz 2011 Relative - sibship 1 M - India - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Paternal (confirmed) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 heterozygous; Mutation PubMed: Schultz 2011 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Schultz 2011 Proband - sibship 2 M - India - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Paternal (confirmed) - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 heterozygous; Mutation PubMed: Schultz 2011 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ - - USH1 - PubMed: Schultz 2011 Relative - sibship 2 F - India - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Unknown - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 heterozygous PubMed: Besnard, Garcia-Garcia 2014 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ, SEQ-NG-S - - DFN - PubMed: Besnard, Garcia-Garcia 2014 Proband M - - - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Unknown - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 heterozygous PubMed: Bujakowska 2014 - rs367928692 Germline - - +PspGI;+BstNI;+SexAI;-MspI;-HpaII;-NciI; - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bujakowska 2014 Proband - - United States - - - - - 1 Anne-Françoise Roux
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Parent #2 - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 heterozygous; mutation PubMed: Bonnet 2016 - rs367928692 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bonnet 2016 Proband - - France - - - - - 1 Crystel Bonnet
+/+ 46i c.6050-9G>A r.[(=, 6050-7_6050-1ins)] p.[(=, Val2018Alafs*10)] Cadherin 19 (1960-2069) Parent #1 - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 heterozygous; mutation PubMed: Bonnet 2016 - rs367928692 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Bonnet 2016 Proband M - France - - - - - 1 Crystel Bonnet
+/. - c.6050-9G>A r.spl? p.(=) - Parent #1 - pathogenic g.73550880G>A g.71791123G>A - - CDH23_000007 - - - - Germline - - - - - DNA SEQ-NG-I Peripheral blood - USH - - - F - - - - - - - 4 Marta de Castro-Miró
+/. - c.6050-9G>A r.spl p.? - Parent #1 - pathogenic (recessive) g.73550880G>A g.71791123G>A - - CDH23_000007 - PubMed: Fuster-Garcia 2018 - - Germline - - - - - DNA arraySEQ - - retinal disease RP2011 PubMed: Fuster-Garcia 2018 analysis 77 USH patients - - Spain - - - - - 1 Global Variome, with Curator vacancy
+/. 46i c.6050-9G>A r.spl p.? - Both (homozygous) - pathogenic (recessive) g.73550880G>A g.71791123G>A 6050-9G>A (IVS45-9G>A) - CDH23_000007 - Tranebjaerg 2011, PubMed: Dad 2016 - - Germline - - - - - DNA SEQ - - retinal disease USH1-20 Tranebjaerg 2011, PubMed: Dad 2016 - F yes Pakistan - - - - - 1 LOVD
+/. - c.6050-9G>A r.spl p.? - Both (homozygous) - pathogenic g.73550880G>A g.71791123G>A 6047-9G>A - CDH23_000007 - PubMed: Neuhaus 2017 - - Germline yes - - - - DNA SEQ-NG - gene panel USH Pat12 PubMed: Neuhaus 2017 - - no Italy - - - - - 1 LOVD
+/. - c.6050-9G>A r.spl p.? - Both (homozygous) - pathogenic g.73550880G>A g.71791123G>A 6047-9G>A - CDH23_000007 - PubMed: Neuhaus 2017 - - Germline - - - - - DNA SEQ-NG - gene panel USH PatDEM296 PubMed: Neuhaus 2017 - - yes Pakistan - - - - - 1 LOVD
+/. 46i c.6050-9G>A r.(=) p.(=) - Paternal (confirmed) - pathogenic (recessive) g.73550880G>A - c.6050-9G>A - CDH23_000007 - PubMed: Valero 2019 - - Germline - - - - - DNA, RNA SEQ-NG, SEQ, RT-PCR - WES retinal disease - PubMed: Valero 2019 - F - - - - - - - 1 LOVD
+/. - c.6050-9G>A r.spl p.? - Both (homozygous) - pathogenic (recessive) g.73550880G>A g.71791123G>A - - CDH23_000007 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4363 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+?/. - c.6050-9G>A r.spl? p.? - Both (homozygous) ACMG likely pathogenic (recessive) g.73550880G>A g.71791123G>A - - CDH23_000007 ACMG PM2, PP3, PS3 PubMed: Weisschuh 2024 46001 - Germline - - - - - DNA SEQ-NG - WGS ? USHI-63 PubMed: Weisschuh 2024 family, 2 affected M - Germany - - - - - 2 Johan den Dunnen
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