List of variants reported as pathogenic for Lynch syndrome 1 by OMIM

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: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000251.3(MSH2):c.942+3A>T	rs193922376	0.00072
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro)	rs63750875	0.00003
MSH2, 24-BP INS
MSH2, 32-KB DEL, EX1-6
MSH2, DEL 50 CODONS
NC_000002.12:g.47430139_47449418del
NM_000251.1(MSH2):c.-4729_367-353del
NM_000251.1(MSH2):c.-823_1076+5984del
NM_000251.2(MSH2):c.-125_1076+?del
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter)	rs63751108
NM_000251.3(MSH2):c.1277-1180_1386+2226delinsCATTCTCTTTGAAAA
NM_000251.3(MSH2):c.1457_1460del (p.Asn486fs)	rs1114167806
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro)	rs63751207
NM_000251.3(MSH2):c.1786_1788del (p.Asn596del)	rs63749831
NM_000251.3(MSH2):c.1865C>T (p.Pro622Leu)	rs28929483
NM_000251.3(MSH2):c.1915C>T (p.His639Tyr)	rs28929484
NM_000251.3(MSH2):c.2113del (p.Val705fs)	rs63749811
NM_000251.3(MSH2):c.388_389del (p.Gln130fs)	rs63750704

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.