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

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 68

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HGVS	dbSNP	gnomAD frequency
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys)	rs17217723	0.00011
NM_000251.3(MSH2):c.2500G>A (p.Ala834Thr)	rs63750757	0.00008
NM_000251.3(MSH2):c.2503A>C (p.Asn835His)	rs41295296	0.00006
NM_000251.3(MSH2):c.1601G>A (p.Arg534His)	rs587778523	0.00004
NM_000251.3(MSH2):c.1813G>T (p.Val605Phe)	rs730881777	0.00004
NM_000251.3(MSH2):c.183G>T (p.Gln61His)	rs751082926	0.00004
NM_000251.3(MSH2):c.607G>A (p.Gly203Arg)	rs587779973	0.00004
NM_000251.3(MSH2):c.2528G>A (p.Cys843Tyr)	rs747700106	0.00003
NM_000251.3(MSH2):c.1182T>G (p.Phe394Leu)	rs374135434	0.00002
NM_000251.3(MSH2):c.1681G>A (p.Glu561Lys)	rs63750328	0.00002
NM_000251.3(MSH2):c.2009C>T (p.Pro670Leu)	rs41294982	0.00002
NM_000251.3(MSH2):c.1597C>G (p.Leu533Val)	rs786202987	0.00001
NM_000251.3(MSH2):c.1898T>C (p.Ile633Thr)	rs864622093	0.00001
NM_000251.3(MSH2):c.220A>C (p.Asn74His)	rs150548839	0.00001
NM_000251.3(MSH2):c.2525A>T (p.Glu842Val)	rs373393954	0.00001
NM_000251.3(MSH2):c.2579C>T (p.Ser860Leu)	rs63750849	0.00001
NM_000251.3(MSH2):c.2649T>G (p.Ile883Met)	rs768983827	0.00001
NM_000251.3(MSH2):c.439G>A (p.Val147Ile)	rs773125415	0.00001
NM_000251.3(MSH2):c.566C>G (p.Ala189Gly)	rs141021599	0.00001
NM_000251.3(MSH2):c.701C>T (p.Thr234Ile)	rs730881773	0.00001
NM_000251.3(MSH2):c.933C>A (p.Asn311Lys)	rs1060504424	0.00001
NM_000251.3(MSH2):c.992A>G (p.Asn331Ser)	rs779673318	0.00001
NC_000002.11:g.(?_47622043)_(47627579_?)dup
NM_000251.3(MSH2):c.101T>G (p.Val34Gly)
NM_000251.3(MSH2):c.103C>G (p.Arg35Gly)	rs1060502034
NM_000251.3(MSH2):c.1054G>A (p.Asp352Asn)	rs1465121242
NM_000251.3(MSH2):c.1094C>A (p.Ala365Asp)	rs1242235025
NM_000251.3(MSH2):c.1217G>T (p.Arg406Leu)	rs146567853
NM_000251.3(MSH2):c.1375G>C (p.Asp459His)	rs1553361295
NM_000251.3(MSH2):c.149C>A (p.Ala50Glu)	rs876658582
NM_000251.3(MSH2):c.1547G>T (p.Ser516Ile)	rs373564353
NM_000251.3(MSH2):c.154C>A (p.Leu52Met)	rs786202335
NM_000251.3(MSH2):c.1619G>C (p.Ser540Thr)	rs1553366622
NM_000251.3(MSH2):c.1626A>G (p.Val542=)	rs1553366635
NM_000251.3(MSH2):c.1837A>C (p.Asn613His)	rs200147804
NM_000251.3(MSH2):c.1856A>C (p.Tyr619Ser)
NM_000251.3(MSH2):c.1937A>T (p.Asp646Val)	rs41295290
NM_000251.3(MSH2):c.1961A>T (p.Asp654Val)	rs2104348304
NM_000251.3(MSH2):c.2043A>G (p.Gln681=)	rs730881763
NM_000251.3(MSH2):c.2048G>C (p.Gly683Ala)
NM_000251.3(MSH2):c.2077T>G (p.Cys693Gly)
NM_000251.3(MSH2):c.2095T>C (p.Ser699Pro)	rs1428704795
NM_000251.3(MSH2):c.2206C>G (p.Leu736Val)	rs876658727
NM_000251.3(MSH2):c.2228C>T (p.Ser743Leu)	rs63751155
NM_000251.3(MSH2):c.2262_2267del (p.Ser755_Thr756del)
NM_000251.3(MSH2):c.2326G>A (p.Ala776Thr)	rs1558521842
NM_000251.3(MSH2):c.23C>A (p.Thr8Lys)	rs17217716
NM_000251.3(MSH2):c.2420C>G (p.Thr807Ser)	rs41295294
NM_000251.3(MSH2):c.2455A>G (p.Lys819Glu)	rs1369739730
NM_000251.3(MSH2):c.2538G>T (p.Gln846His)
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del)	rs587781278
NM_000251.3(MSH2):c.2618_2620dup (p.Cys873_Tyr874insCys)
NM_000251.3(MSH2):c.2704G>A (p.Glu902Lys)
NM_000251.3(MSH2):c.2704G>C (p.Glu902Gln)
NM_000251.3(MSH2):c.2755A>G (p.Asn919Asp)	rs1573582795
NM_000251.3(MSH2):c.338A>G (p.Lys113Arg)	rs1672561938
NM_000251.3(MSH2):c.364A>G (p.Lys122Glu)	rs374127044
NM_000251.3(MSH2):c.373C>A (p.Pro125Thr)	rs761767467
NM_000251.3(MSH2):c.418_420del (p.Asp140del)
NM_000251.3(MSH2):c.505A>C (p.Ile169Leu)
NM_000251.3(MSH2):c.562G>C (p.Glu188Gln)	rs1064795622
NM_000251.3(MSH2):c.668T>C (p.Leu223Pro)	rs1060501992
NM_000251.3(MSH2):c.70C>G (p.Gln24Glu)	rs587779976
NM_000251.3(MSH2):c.806C>T (p.Ser269Leu)	rs63750058
NM_000251.3(MSH2):c.812C>G (p.Ser271Cys)	rs139891783
NM_000251.3(MSH2):c.867T>G (p.Phe289Leu)
NM_000251.3(MSH2):c.942+3_942+4insC
NM_000251.3(MSH2):c.943-6_943-1delinsA

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