List of variants in gene MSH2 reported as pathogenic for Muir-Torre syndrome

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

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro)	rs63750875	0.00003
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter)	rs63750636	0.00001
MSH2, 32-KB DEL, EX1-6
NM_000251.3(MSH2):c.1076+1G>A	rs267607940
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter)	rs63749849
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter)	rs63751108
NM_000251.3(MSH2):c.1757C>A (p.Ser586Ter)
NM_000251.3(MSH2):c.1801C>T (p.Gln601Ter)	rs63750047
NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter)	rs63750508
NM_000251.3(MSH2):c.1907del (p.Ala636fs)
NM_000251.3(MSH2):c.269_290dup (p.Tyr98fs)	rs1553350126
NM_000251.3(MSH2):c.388_389del (p.Gln130fs)	rs63750704
NM_000251.3(MSH2):c.868G>T (p.Glu290Ter)	rs587779190

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.