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.

45 entries on 1 page. Showing entries 1 - 45.
Legend   How to query  

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     
+?/? 8 c.719C>T r.(?) p.(Pro240Leu) Cadherin 3 (237-348) Parent #1 ACMG VUS g.73330641C>T g.71570884C>T - - CDH23_000126 heterozygous; Possible pathologic PubMed: Wagatsuma 2007; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908354 Germline - 1/292 controls - - - DNA SEQ - - DFNB - PubMed: Wagatsuma 2007 Proband - referenced as patient #2826 in Miyagawa et al., 2012 M - Japan - - - - - 1 Anne-Françoise Roux
+?/? 8 c.719C>T r.(?) p.(Pro240Leu) Cadherin 3 (237-348) Paternal (inferred) ACMG VUS g.73330641C>T g.71570884C>T - - CDH23_000126 homozygous; Possible pathologic PubMed: Wagatsuma 2007; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908354 Germline - 1/292 controls - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Wagatsuma 2007 Proband - - Japan - - - - - 1 Anne-Françoise Roux
+?/? 8 c.719C>T r.(?) p.(Pro240Leu) Cadherin 3 (237-348) Parent #2 ACMG VUS g.73330641C>T g.71570884C>T - - CDH23_000126 heterozygous; Possible pathologic PubMed: Wagatsuma 2007; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908354 Germline - 1/292 controls - - - DNA SEQ - - DFNB - PubMed: Wagatsuma 2007 Proband - referenced as patient #2714 in Miyagawa et al., 2012 M - Japan - - - - - 1 Anne-Françoise Roux
+?/? 8 c.719C>T r.(?) p.(Pro240Leu) Cadherin 3 (237-348) Parent #2 ACMG VUS g.73330641C>T g.71570884C>T - - CDH23_000126 heterozygous; Possible pathologic PubMed: Wagatsuma 2007; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908354 Germline - 1/292 controls - - - DNA SEQ - - DFNB - PubMed: Wagatsuma 2007 Proband - referenced as patient #2886 in Miyagawa et al., 2012 M - Japan - - - - - 1 Anne-Françoise Roux
+?/? 8 c.719C>T r.(?) p.(Pro240Leu) Cadherin 3 (237-348) Parent #2 ACMG VUS g.73330641C>T g.71570884C>T - - CDH23_000126 heterozygous; Possible pathologic PubMed: Wagatsuma 2007; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908354 Germline - 1/292 controls - - - DNA SEQ - - DFNB - PubMed: Wagatsuma 2007 Relative - referenced as patient #2885 in Miyagawa et al., 2012 M - Japan - - - - - 1 Anne-Françoise Roux
+?/? 8 c.719C>T r.(?) p.(Pro240Leu) Cadherin 3 (237-348) Parent #1 ACMG VUS g.73330641C>T g.71570884C>T - - CDH23_000126 heterozygous; Possible pathologic PubMed: Wagatsuma 2007; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908354 Germline - 1/292 controls - - - DNA SEQ - - DFNB - PubMed: Wagatsuma 2007 Proband - referenced as patient #2618 in Miyagawa et al., 2012 F - Japan - - - - - 1 Anne-Françoise Roux
+?/? 8 c.719C>T r.(?) p.(Pro240Leu) Cadherin 3 (237-348) Maternal (inferred) ACMG VUS g.73330641C>T g.71570884C>T - - CDH23_000126 homozygous; Possible pathologic PubMed: Wagatsuma 2007; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908354 Germline - 1/292 controls - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Wagatsuma 2007 Proband - - Japan - - - - - 1 Anne-Françoise Roux
+?/? 8 c.719C>T r.(?) p.(Pro240Leu) Cadherin 3 (237-348) Paternal (inferred) ACMG VUS g.73330641C>T g.71570884C>T - - CDH23_000126 homozygous; Possible pathologic PubMed: Miyagawa 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908354 Germline - 1/384 controls - - - DNA SEQ - - DFNB - PubMed: Miyagawa 2012 Proband F - Japan - - - - - 1 Anne-Françoise Roux
+?/? 8 c.719C>T r.(?) p.(Pro240Leu) Cadherin 3 (237-348) Paternal (inferred) ACMG VUS g.73330641C>T g.71570884C>T - - CDH23_000126 homozygous; Possible pathologic PubMed: Miyagawa 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908354 Germline - 1/384 controls - - - DNA SEQ - - DFNB - PubMed: Miyagawa 2012 Proband M - Japan - - - - - 1 Anne-Françoise Roux
+?/? 8 c.719C>T r.(?) p.(Pro240Leu) Cadherin 3 (237-348) Paternal (inferred) ACMG VUS g.73330641C>T g.71570884C>T - - CDH23_000126 homozygous; Possible pathologic PubMed: Miyagawa 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908354 Germline - 1/384 controls - - - DNA SEQ - - DFNB - PubMed: Miyagawa 2012 Relative M - Japan - - - - - 1 Anne-Françoise Roux
+?/? 8 c.719C>T r.(?) p.(Pro240Leu) Cadherin 3 (237-348) Paternal (inferred) ACMG VUS g.73330641C>T g.71570884C>T - - CDH23_000126 homozygous; Possible pathologic PubMed: Miyagawa 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908354 Germline - 1/384 controls - - - DNA SEQ - - DFNB - PubMed: Miyagawa 2012 Relative M - Japan - - - - - 1 Anne-Françoise Roux
+?/? 8 c.719C>T r.(?) p.(Pro240Leu) Cadherin 3 (237-348) Paternal (inferred) ACMG VUS g.73330641C>T g.71570884C>T - - CDH23_000126 homozygous; Possible pathologic PubMed: Miyagawa 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908354 Germline - 1/384 controls - - - DNA SEQ - - DFNB - PubMed: Miyagawa 2012 Proband M - Japan - - - - - 1 Anne-Françoise Roux
+?/? 8 c.719C>T r.(?) p.(Pro240Leu) Cadherin 3 (237-348) Paternal (inferred) ACMG VUS g.73330641C>T g.71570884C>T - - CDH23_000126 homozygous; Possible pathologic PubMed: Miyagawa 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908354 Germline - 1/384 controls - - - DNA SEQ - - DFNB - PubMed: Miyagawa 2012 Proband M - Japan - - - - - 1 Anne-Françoise Roux
+?/? 8 c.719C>T r.(?) p.(Pro240Leu) Cadherin 3 (237-348) Paternal (inferred) ACMG VUS g.73330641C>T g.71570884C>T - - CDH23_000126 homozygous; Possible pathologic PubMed: Miyagawa 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908354 Germline - 1/384 controls - - - DNA SEQ - - DFNB - PubMed: Miyagawa 2012 Proband M - Japan - - - - - 1 Anne-Françoise Roux
+?/? 8 c.719C>T r.(?) p.(Pro240Leu) Cadherin 3 (237-348) Paternal (inferred) ACMG VUS g.73330641C>T g.71570884C>T - - CDH23_000126 homozygous; Possible pathologic PubMed: Miyagawa 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908354 Germline - 1/384 controls - - - DNA SEQ - - DFNB - PubMed: Miyagawa 2012 Proband M - Japan - - - - - 1 Anne-Françoise Roux
+?/? 8 c.719C>T r.(?) p.(Pro240Leu) Cadherin 3 (237-348) Paternal (inferred) ACMG VUS g.73330641C>T g.71570884C>T - - CDH23_000126 homozygous; Possible pathologic PubMed: Miyagawa 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908354 Germline - 1/384 controls - - - DNA SEQ - - DFNB - PubMed: Miyagawa 2012 Proband M - Japan - - - - - 1 Anne-Françoise Roux
+?/? 8 c.719C>T r.(?) p.(Pro240Leu) Cadherin 3 (237-348) Parent #1 ACMG VUS g.73330641C>T g.71570884C>T - - CDH23_000126 heterozygous; Possible pathologic PubMed: Miyagawa 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908354 Germline - 1/384 controls - - - DNA SEQ, SEQ-NG-S - - DFNB - PubMed: Miyagawa 2012 Proband F - Japan - - - - - 1 Anne-Françoise Roux
+?/? 8 c.719C>T r.(?) p.(Pro240Leu) Cadherin 3 (237-348) Parent #1 ACMG VUS g.73330641C>T g.71570884C>T - - CDH23_000126 heterozygous; Possible pathologic PubMed: Miyagawa 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908354 Germline - 1/384 controls - - - DNA SEQ, SEQ-NG-S - - DFNB - PubMed: Miyagawa 2012 Proband M - Japan - - - - - 1 Anne-Françoise Roux
+?/? 8 c.719C>T r.(?) p.(Pro240Leu) Cadherin 3 (237-348) Parent #1 ACMG VUS g.73330641C>T g.71570884C>T - - CDH23_000126 heterozygous; Possible pathologic PubMed: Miyagawa 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908354 Germline - 1/384 controls - - - DNA SEQ, SEQ-NG-S - - DFNB - PubMed: Miyagawa 2012 Proband M - Japan - - - - - 1 Anne-Françoise Roux
+?/? 8 c.719C>T r.(?) p.(Pro240Leu) Cadherin 3 (237-348) Parent #1 ACMG VUS g.73330641C>T g.71570884C>T - - CDH23_000126 heterozygous; Possible pathologic PubMed: Miyagawa 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908354 Germline - 1/384 controls - - - DNA SEQ, SEQ-NG-S - - DFNB - PubMed: Miyagawa 2012 Proband F - Japan - - - - - 1 Anne-Françoise Roux
+?/? 8 c.719C>T r.(?) p.(Pro240Leu) Cadherin 3 (237-348) Parent #1 ACMG VUS g.73330641C>T g.71570884C>T - - CDH23_000126 heterozygous; Possible pathologic PubMed: Miyagawa 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908354 Germline - 1/384 controls - - - DNA SEQ, SEQ-NG-S - - DFNB - PubMed: Miyagawa 2012 Proband F - Japan - - - - - 1 Anne-Françoise Roux
+?/? 8 c.719C>T r.(?) p.(Pro240Leu) Cadherin 3 (237-348) Parent #1 ACMG VUS g.73330641C>T g.71570884C>T - - CDH23_000126 heterozygous; Possible pathologic PubMed: Miyagawa 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908354 Germline - 1/384 controls - - - DNA SEQ, SEQ-NG-S - - DFNB - PubMed: Miyagawa 2012 Proband F - Japan - - - - - 1 Anne-Françoise Roux
+?/? 8 c.719C>T r.(?) p.(Pro240Leu) Cadherin 3 (237-348) Maternal (inferred) ACMG VUS g.73330641C>T g.71570884C>T - - CDH23_000126 homozygous; Possible pathologic PubMed: Miyagawa 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908354 Germline - 1/384 controls - - - DNA SEQ - - DFNB - PubMed: Miyagawa 2012 Proband F - Japan - - - - - 1 Anne-Françoise Roux
+?/? 8 c.719C>T r.(?) p.(Pro240Leu) Cadherin 3 (237-348) Maternal (inferred) ACMG VUS g.73330641C>T g.71570884C>T - - CDH23_000126 homozygous; Possible pathologic PubMed: Miyagawa 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908354 Germline - 1/384 controls - - - DNA SEQ - - DFNB - PubMed: Miyagawa 2012 Proband M - Japan - - - - - 1 Anne-Françoise Roux
+?/? 8 c.719C>T r.(?) p.(Pro240Leu) Cadherin 3 (237-348) Maternal (inferred) ACMG VUS g.73330641C>T g.71570884C>T - - CDH23_000126 homozygous; Possible pathologic PubMed: Miyagawa 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908354 Germline - 1/384 controls - - - DNA SEQ - - DFNB - PubMed: Miyagawa 2012 Relative M - Japan - - - - - 1 Anne-Françoise Roux
+?/? 8 c.719C>T r.(?) p.(Pro240Leu) Cadherin 3 (237-348) Maternal (inferred) ACMG VUS g.73330641C>T g.71570884C>T - - CDH23_000126 homozygous; Possible pathologic PubMed: Miyagawa 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908354 Germline - 1/384 controls - - - DNA SEQ - - DFNB - PubMed: Miyagawa 2012 Relative M - Japan - - - - - 1 Anne-Françoise Roux
+?/? 8 c.719C>T r.(?) p.(Pro240Leu) Cadherin 3 (237-348) Maternal (inferred) ACMG VUS g.73330641C>T g.71570884C>T - - CDH23_000126 homozygous; Possible pathologic PubMed: Miyagawa 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908354 Germline - 1/384 controls - - - DNA SEQ - - DFNB - PubMed: Miyagawa 2012 Proband M - Japan - - - - - 1 Anne-Françoise Roux
+?/? 8 c.719C>T r.(?) p.(Pro240Leu) Cadherin 3 (237-348) Maternal (inferred) ACMG VUS g.73330641C>T g.71570884C>T - - CDH23_000126 homozygous; Possible pathologic PubMed: Miyagawa 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908354 Germline - 1/384 controls - - - DNA SEQ - - DFNB - PubMed: Miyagawa 2012 Proband M - Japan - - - - - 1 Anne-Françoise Roux
+?/? 8 c.719C>T r.(?) p.(Pro240Leu) Cadherin 3 (237-348) Maternal (inferred) ACMG VUS g.73330641C>T g.71570884C>T - - CDH23_000126 homozygous; Possible pathologic PubMed: Miyagawa 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908354 Germline - 1/384 controls - - - DNA SEQ - - DFNB - PubMed: Miyagawa 2012 Proband M - Japan - - - - - 1 Anne-Françoise Roux
+?/? 8 c.719C>T r.(?) p.(Pro240Leu) Cadherin 3 (237-348) Maternal (inferred) ACMG VUS g.73330641C>T g.71570884C>T - - CDH23_000126 homozygous; Possible pathologic PubMed: Miyagawa 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908354 Germline - 1/384 controls - - - DNA SEQ - - DFNB - PubMed: Miyagawa 2012 Proband M - Japan - - - - - 1 Anne-Françoise Roux
+?/? 8 c.719C>T r.(?) p.(Pro240Leu) Cadherin 3 (237-348) Maternal (inferred) ACMG VUS g.73330641C>T g.71570884C>T - - CDH23_000126 homozygous; Possible pathologic PubMed: Miyagawa 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908354 Germline - 1/384 controls - - - DNA SEQ - - DFNB - PubMed: Miyagawa 2012 Proband M - Japan - - - - - 1 Anne-Françoise Roux
+?/? 8 c.719C>T r.(?) p.(Pro240Leu) Cadherin 3 (237-348) Parent #1 ACMG VUS g.73330641C>T g.71570884C>T - - CDH23_000126 heterozygous; Possible pathologic PubMed: Miyagawa 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908354 Germline - 1/384 controls - - - DNA SEQ, SEQ-NG-S - - DFNB - PubMed: Miyagawa 2012 Proband F - Japan - - - - - 1 Anne-Françoise Roux
+?/? 8 c.719C>T r.(?) p.(Pro240Leu) Cadherin 3 (237-348) Parent #1 ACMG VUS g.73330641C>T g.71570884C>T - - CDH23_000126 heterozygous; Possible pathologic PubMed: Miyagawa 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908354 Germline - 1/384 controls - - - DNA SEQ, SEQ-NG-S - - DFNB - PubMed: Miyagawa 2012 Proband F - Japan - - - - - 1 Anne-Françoise Roux
+?/? 8 c.719C>T r.(?) p.(Pro240Leu) Cadherin 3 (237-348) Parent #1 ACMG VUS g.73330641C>T g.71570884C>T - - CDH23_000126 heterozygous; Possible pathologic PubMed: Miyagawa 2012; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908354 Germline - 1/384 controls - - - DNA SEQ, SEQ-NG-S - - DFNB - PubMed: Miyagawa 2012 Relative F - Japan - - - - - 1 Anne-Françoise Roux
+?/? 8 c.719C>T r.(?) p.(Pro240Leu) Cadherin 3 (237-348) Parent #1 ACMG VUS g.73330641C>T g.71570884C>T - - CDH23_000126 heterozygous; causative PubMed: Mutai 2013; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908354 Germline - - - - - DNA SEQ, SEQ-NG-S - - DFN - PubMed: Mutai 2013 Proband F - Japan - - - - - 1 Anne-Françoise Roux
+?/? 8 c.719C>T r.(?) p.(Pro240Leu) Cadherin 3 (237-348) Parent #1 ACMG VUS g.73330641C>T g.71570884C>T - - CDH23_000126 heterozygous; causative PubMed: Mutai 2013; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908354 Germline - - - - - DNA SEQ, SEQ-NG-S - - DFN - PubMed: Mutai 2013 Relative F - Japan - - - - - 1 Anne-Françoise Roux
+?/? 8 c.719C>T r.(?) p.(Pro240Leu) Cadherin 3 (237-348) Parent #1 ACMG VUS g.73330641C>T g.71570884C>T - - CDH23_000126 heterozygous; causative PubMed: Mutai 2013; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908354 Germline - - - - - DNA SEQ - - DFN - PubMed: Mutai 2013 Relative F - Japan - - - - - 1 Anne-Françoise Roux
+?/? 8 c.719C>T r.(?) p.(Pro240Leu) Cadherin 3 (237-348) Paternal (confirmed) ACMG VUS g.73330641C>T g.71570884C>T - - CDH23_000126 heterozygous; mutation PubMed: Woo 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908354 Germline - - - - - DNA SEQ, SEQ-NG-S - - DFNB - PubMed: Woo 2014 Proband M - Korea, South (Republic) - - - - - 1 Anne-Françoise Roux
+?/? 8 c.719C>T r.(?) p.(Pro240Leu) Cadherin 3 (237-348) Paternal (confirmed) ACMG VUS g.73330641C>T g.71570884C>T - - CDH23_000126 heterozygous; mutation PubMed: Woo 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908354 Germline - - - - - DNA SEQ, SEQ-NG-S - - DFNB - PubMed: Woo 2014 Proband M - Korea, South (Republic) - - - - - 1 Anne-Françoise Roux
+?/? 8 c.719C>T r.(?) p.(Pro240Leu) Cadherin 3 (237-348) Paternal (confirmed) ACMG VUS g.73330641C>T g.71570884C>T - - CDH23_000126 heterozygous; mutation PubMed: Woo 2014; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908354 Germline - 1/292 controls - - - DNA SEQ, SEQ-NG-S - - DFNB - PubMed: Woo 2014 Relative M - Korea, South (Republic) - - - - - 1 Anne-Françoise Roux
+?/? 8 c.719C>T r.(?) p.(Pro240Leu) Cadherin 3 (237-348) Maternal (confirmed) ACMG VUS g.73330641C>T g.71570884C>T - - CDH23_000126 heterozygous PubMed: Mizutari 2015; USMA-USMA missense analysis USMA-missense variant in MSV3d - rs121908354 Germline - - hmutai - - DNA SEQ - - DFNB - PubMed: Mizutari 2015 Proband F - Japan Asian-Japanese - - - - 1 Hideki Mutai
+?/. 8 c.719C>T r.(?) p.(Pro240Leu) - Parent #2 - likely pathogenic g.73330641C>T g.71570884C>T C719T - CDH23_000126 - PubMed: Kim 2015 - - Germline - - - - - DNA SEQ-NG blood - HL - PubMed: Kim 2015 2-generation family, 1 affected, unaffected parents F no Korea - - - - - 1 Bong Jik Kim
+/. 8 c.719C>T r.(?) p.(Pro240Leu) - Parent #2 - pathogenic (recessive) g.73330641C>T g.71570884C>T C719T - CDH23_000126 - PubMed: Kim 2015 - - Germline - - - - - DNA SEQ - - HL 26264712-FamSH59-133 PubMed: Kim 2015 4-generation family, 1 affected, unaffected parents F - Korea - - - - - 1 Johan den Dunnen
+/. 8 c.719C>T r.(?) p.(Pro240Leu) - Both (homozygous) - pathogenic (recessive) g.73330641C>T g.71570884C>T C719T - CDH23_000126 - PubMed: Kim 2015 - - Germline - - - - - DNA SEQ - - HL 26264712-FamSH97-211 PubMed: Kim 2015 3-generation family, 1 affected, unaffected parents F - Korea - - - - - 1 Johan den Dunnen
+/. 8 c.719C>T r.(?) p.(Pro240Leu) - Both (homozygous) - pathogenic (recessive) g.73330641C>T g.71570884C>T C719T - CDH23_000126 - PubMed: Kim 2015 - - Germline - - - - - DNA SEQ - - HL 26264712-FamSH164-359 PubMed: Kim 2015 3-generation family, 1 affected, unaffected parents F - Korea - - - - - 1 Johan den Dunnen
Legend   How to query  


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