List of variants reported as pathogenic for Familial cancer of breast; Blepharocheilodontic syndrome 1; Endometrial carcinoma; Hereditary diffuse gastric adenocarcinoma; Ovarian neoplasm; Malignant tumor of prostate

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter)	rs587780784	0.00001
NM_004360.5(CDH1):c.1147C>T (p.Gln383Ter)	rs587782798
NM_004360.5(CDH1):c.1354_1357del (p.Leu452fs)	rs886039612
NM_004360.5(CDH1):c.2064_2065del (p.Cys688_Glu689delinsTer)	rs587781276
NM_004360.5(CDH1):c.220C>T (p.Arg74Ter)	rs876658932
NM_004360.5(CDH1):c.382del (p.His128fs)	rs1555514492

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.