List of variants reported as likely pathogenic for Lynch syndrome 1; Muir-Torré syndrome; Mismatch repair cancer syndrome 2 by Department of Pathology and Laboratory Medicine, Sinai Health System

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: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000251.3(MSH2):c.-82G>C	rs866991159
NM_000251.3(MSH2):c.1276G>C (p.Gly426Arg)	rs879254234
NM_000251.3(MSH2):c.2083G>A (p.Val695Met)	rs772491283
NM_000251.3(MSH2):c.367-400_476del
NM_000251.3(MSH2):c.368_645+1del
NM_000251.3(MSH2):c.809T>C (p.Leu270Pro)	rs1573451078
NM_000251.3(MSH2):c.942+3_942+4delinsGG
NM_000251.3(MSH2):c.989T>C (p.Leu330Pro)	rs63750630

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.