ClinVar Miner

List of variants in gene MSH2 reported as pathogenic for Lynch syndrome I

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Total variants: 49
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HGVS dbSNP
MSH2, DEL 50 CODONS
NM_000251.1(MSH2):c.-823_1076+5984del
NM_000251.2(MSH2):c.1046C>G (p.Pro349Arg) rs587779067
NM_000251.2(MSH2):c.1077-2A>C rs267607943
NM_000251.2(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.2(MSH2):c.1165C>T (p.Arg389Ter) rs587779075
NM_000251.2(MSH2):c.1203dup (p.Gln402fs) rs63750586
NM_000251.2(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.2(MSH2):c.1226_1227del (p.Gln409fs) rs63750086
NM_000251.2(MSH2):c.1271dup (p.His424fs) rs587783055
NM_000251.2(MSH2):c.1277-4076_1386+1819del
NM_000251.2(MSH2):c.1277-6224_1386+4836del
NM_000251.2(MSH2):c.1277-6284_1386+4776del
NM_000251.2(MSH2):c.1387-9T>A rs587779087
NM_000251.2(MSH2):c.142G>T (p.Glu48Ter) rs63750615
NM_000251.2(MSH2):c.1457_1460delATGA rs1114167806
NM_000251.2(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000251.2(MSH2):c.1692_1693del (p.Lys565_Asn566insTer) rs1553367635
NM_000251.2(MSH2):c.1705_1706del (p.Glu569fs) rs63750393
NM_000251.2(MSH2):c.1708del (p.Tyr570fs) rs1131692279
NM_000251.2(MSH2):c.1786_1788del (p.Asn596del) rs63749831
NM_000251.2(MSH2):c.1861C>T (p.Arg621Ter) rs63750508
NM_000251.2(MSH2):c.1865C>T (p.Pro622Leu) rs28929483
NM_000251.2(MSH2):c.1906G>C (p.Ala636Pro) rs63750875
NM_000251.2(MSH2):c.1915C>T (p.His639Tyr) rs28929484
NM_000251.2(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.2(MSH2):c.2113del (p.Val705fs) rs63749811
NM_000251.2(MSH2):c.2228C>G (p.Ser743Ter) rs63751155
NM_000251.2(MSH2):c.2334C>A (p.Cys778Ter) rs63750618
NM_000251.2(MSH2):c.2525_2526delAG rs587779148
NM_000251.2(MSH2):c.2579C>A (p.Ser860Ter) rs63750849
NM_000251.2(MSH2):c.2633_2634delAG rs63751618
NM_000251.2(MSH2):c.2635C>T (p.Gln879Ter) rs63751469
NM_000251.2(MSH2):c.2647del (p.Ile883fs) rs63750084
NM_000251.2(MSH2):c.2647dup (p.Ile883fs) rs63750084
NM_000251.2(MSH2):c.2653C>T (p.Gln885Ter) rs63750808
NM_000251.2(MSH2):c.2662del (p.Leu888fs) rs63751007
NM_000251.2(MSH2):c.289C>T (p.Gln97Ter) rs63750970
NM_000251.2(MSH2):c.482T>A (p.Val161Asp) rs63750126
NM_000251.2(MSH2):c.484G>A (p.Gly162Arg) rs63750624
NM_000251.2(MSH2):c.488T>G (p.Val163Gly) rs63750214
NM_000251.2(MSH2):c.518T>G (p.Leu173Arg) rs63750070
NM_000251.2(MSH2):c.599T>A (p.Val200Asp) rs587779167
NM_000251.2(MSH2):c.715C>T (p.Gln239Ter) rs63750488
NM_000251.2(MSH2):c.811_814del (p.Ser271fs) rs587779185
NM_000251.2(MSH2):c.905T>A (p.Leu302Ter) rs63749914
NM_000251.2(MSH2):c.942+3A>T rs193922376
NM_000251.2(MSH2):c.998G>A (p.Cys333Tyr) rs63750828
nsv513794

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