List of variants in gene MSH2 reported as likely pathogenic by Color Diagnostics, LLC DBA Color Health

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: 40

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HGVS	dbSNP	gnomAD frequency
NM_000251.3(MSH2):c.942+2T>A	rs587779195	0.00101
NM_000251.3(MSH2):c.1862G>T (p.Arg621Leu)	rs759263820	0.00003
NM_000251.2(MSH2):c.-82G>C	rs866991159
NM_000251.3(MSH2):c.1077-1G>C	rs267607944
NM_000251.3(MSH2):c.1276+1G>A	rs267607950
NM_000251.3(MSH2):c.1319T>C (p.Leu440Pro)	rs587779084
NM_000251.3(MSH2):c.1386+2T>C	rs1675076969
NM_000251.3(MSH2):c.1510+2_1510+50del	rs1558508399
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro)	rs63751207
NM_000251.3(MSH2):c.1661+5G>T	rs267607972
NM_000251.3(MSH2):c.1759+1G>A	rs587779108
NM_000251.3(MSH2):c.1760-1G>A	rs587779110
NM_000251.3(MSH2):c.1807G>A (p.Asp603Asn)	rs63750657
NM_000251.3(MSH2):c.19G>T (p.Glu7Ter)	rs375561490
NM_000251.3(MSH2):c.2005G>T (p.Gly669Cys)	rs63751668
NM_000251.3(MSH2):c.2006-1G>T	rs267607988
NM_000251.3(MSH2):c.2060T>C (p.Leu687Pro)	rs587779133
NM_000251.3(MSH2):c.2074G>A (p.Gly692Arg)	rs63750232
NM_000251.3(MSH2):c.2074G>C (p.Gly692Arg)	rs63750232
NM_000251.3(MSH2):c.2090G>A (p.Cys697Tyr)	rs63750398
NM_000251.3(MSH2):c.2105T>A (p.Val702Glu)	rs587779137
NM_000251.3(MSH2):c.211G>C (p.Gly71Arg)	rs587782659
NM_000251.3(MSH2):c.2210+1G>C	rs267608002
NM_000251.3(MSH2):c.2211-10T>A	rs267608006
NM_000251.3(MSH2):c.2211-1G>A	rs267607979
NM_000251.3(MSH2):c.2251G>C (p.Gly751Arg)	rs63751119
NM_000251.3(MSH2):c.2458+1G>A	rs267608010
NM_000251.3(MSH2):c.2634+5G>A	rs267608017
NM_000251.3(MSH2):c.2634G>C (p.Glu878Asp)	rs63751624
NM_000251.3(MSH2):c.2680dup (p.Met894fs)	rs876658211
NM_000251.3(MSH2):c.366+1G>A	rs267607924
NM_000251.3(MSH2):c.367-2A>G
NM_000251.3(MSH2):c.488T>A (p.Val163Asp)	rs63750214
NM_000251.3(MSH2):c.488T>G (p.Val163Gly)	rs63750214
NM_000251.3(MSH2):c.493T>G (p.Tyr165Asp)	rs587779163
NM_000251.3(MSH2):c.646-3T>G	rs267607930
NM_000251.3(MSH2):c.70C>T (p.Gln24Ter)	rs587779976
NM_000251.3(MSH2):c.793-1G>A	rs863225397
NM_000251.3(MSH2):c.942+1G>T	rs587779193
NM_000251.3(MSH2):c.943-2A>G	rs587779198

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