ClinVar Miner

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

Included ClinVar conditions (18):
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Gene type:
ClinVar version:
Total variants: 122
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HGVS dbSNP
NM_000251.2(MSH2):c.-78_-77del rs587779182
NM_000251.2(MSH2):c.1015C>T (p.Gln339Ter) rs1558466577
NM_000251.2(MSH2):c.1022T>C (p.Leu341Pro) rs63751147
NM_000251.2(MSH2):c.1046C>G (p.Pro349Arg) rs587779067
NM_000251.2(MSH2):c.1067T>G (p.Ile356Arg) rs753075410
NM_000251.2(MSH2):c.1076+1G>T rs267607940
NM_000251.2(MSH2):c.1077-1G>C rs267607944
NM_000251.2(MSH2):c.1077-1G>T rs267607944
NM_000251.2(MSH2):c.1077-2A>G rs267607943
NM_000251.2(MSH2):c.1077-2A>T rs267607943
NM_000251.2(MSH2):c.1077-66_1146del rs193922372
NM_000251.2(MSH2):c.1077-?_*279+?del
NM_000251.2(MSH2):c.1077-?_1276+?dup
NM_000251.2(MSH2):c.10C>T (p.Gln4Ter) rs878853797
NM_000251.2(MSH2):c.1224T>G (p.Tyr408Ter) rs63750132
NM_000251.2(MSH2):c.1251_1268delinsAGTT (p.Ile418fs) rs863225388
NM_000251.2(MSH2):c.1276+1G>C rs267607950
NM_000251.2(MSH2):c.1276+1G>T rs267607950
NM_000251.2(MSH2):c.1276+2T>A rs267607953
NM_000251.2(MSH2):c.1276+2T>C rs267607953
NM_000251.2(MSH2):c.1277-1G>A rs267607948
NM_000251.2(MSH2):c.1277-1G>C rs267607948
NM_000251.2(MSH2):c.1277-2A>C rs267607949
NM_000251.2(MSH2):c.1277-2A>T rs267607949
NM_000251.2(MSH2):c.1386+1G>A rs267607957
NM_000251.2(MSH2):c.1386+1G>C rs267607957
NM_000251.2(MSH2):c.1386+1G>T rs267607957
NM_000251.2(MSH2):c.1387-1G>T rs267607956
NM_000251.2(MSH2):c.1401del (p.Glu467fs) rs1553365711
NM_000251.2(MSH2):c.1510+1G>A rs1114167852
NM_000251.2(MSH2):c.1510+2T>C rs1060502023
NM_000251.2(MSH2):c.1511-1G>A rs267607964
NM_000251.2(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000251.2(MSH2):c.1661+1G>A rs267607969
NM_000251.2(MSH2):c.1661+1G>T rs267607969
NM_000251.2(MSH2):c.1662-12_1677del rs864622436
NM_000251.2(MSH2):c.1662-2A>G rs267607971
NM_000251.2(MSH2):c.1667T>G (p.Leu556Trp) rs587779101
NM_000251.2(MSH2):c.1759+1G>A rs587779108
NM_000251.2(MSH2):c.1759+1G>C rs587779108
NM_000251.2(MSH2):c.1759+2T>C rs267607976
NM_000251.2(MSH2):c.1760-1G>A rs587779110
NM_000251.2(MSH2):c.1808A>G (p.Asp603Gly) rs267607985
NM_000251.2(MSH2):c.1827del (p.His610fs) rs587779112
NM_000251.2(MSH2):c.1832T>A (p.Val611Glu) rs1553368590
NM_000251.2(MSH2):c.1838dup (p.Asn613fs) rs1114167815
NM_000251.2(MSH2):c.1915C>T (p.His639Tyr) rs28929484
NM_000251.2(MSH2):c.1955C>A (p.Pro652His) rs267607983
NM_000251.2(MSH2):c.1979A>G (p.Asp660Gly) rs1085308057
NM_000251.2(MSH2):c.2005+1G>A rs267607986
NM_000251.2(MSH2):c.2005+1G>C rs267607986
NM_000251.2(MSH2):c.2005+1G>T rs267607986
NM_000251.2(MSH2):c.2005+2_2005+12del rs587779123
NM_000251.2(MSH2):c.2005+2del rs587779124
NM_000251.2(MSH2):c.2006-1G>C rs267607988
NM_000251.2(MSH2):c.2006-2A>G rs267607991
NM_000251.2(MSH2):c.2020G>C (p.Gly674Arg) rs63750234
NM_000251.2(MSH2):c.2021G>A (p.Gly674Asp) rs267607996
NM_000251.2(MSH2):c.2074G>C (p.Gly692Arg) rs63750232
NM_000251.2(MSH2):c.2074G>T (p.Gly692Trp) rs63750232
NM_000251.2(MSH2):c.2075G>A (p.Gly692Glu) rs63751432
NM_000251.2(MSH2):c.2075G>T (p.Gly692Val) rs63751432
NM_000251.2(MSH2):c.2090G>A (p.Cys697Tyr) rs63750398
NM_000251.2(MSH2):c.211G>C (p.Gly71Arg) rs587782659
NM_000251.2(MSH2):c.212-2A>G rs267607917
NM_000251.2(MSH2):c.212-?_366+?dup
NM_000251.2(MSH2):c.2182_2199del (p.Glu728_Ala733del) rs1553369194
NM_000251.2(MSH2):c.2210+1G>A rs267608002
NM_000251.2(MSH2):c.2210+1G>C rs267608002
NM_000251.2(MSH2):c.2211-1G>T rs267607979
NM_000251.2(MSH2):c.2211-2A>C rs267608001
NM_000251.2(MSH2):c.2211-2A>T rs267608001
NM_000251.2(MSH2):c.2245G>A (p.Glu749Lys) rs63751477
NM_000251.2(MSH2):c.2251G>C (p.Gly751Arg) rs63751119
NM_000251.2(MSH2):c.2304del (p.Glu768fs) rs587783053
NM_000251.2(MSH2):c.2335dup (p.Met779fs) rs63750149
NM_000251.2(MSH2):c.2363_2364del (p.Thr788fs) rs63750937
NM_000251.2(MSH2):c.2425G>T (p.Glu809Ter) rs202145681
NM_000251.2(MSH2):c.2458+1G>A rs267608010
NM_000251.2(MSH2):c.2458+2T>C rs1278858560
NM_000251.2(MSH2):c.2459-12A>G rs267608012
NM_000251.2(MSH2):c.2459-1G>A rs1060501991
NM_000251.2(MSH2):c.2466T>A (p.Cys822Ter) rs63749846
NM_000251.2(MSH2):c.2634+1G>A rs267608019
NM_000251.2(MSH2):c.2634+1G>T rs267608019
NM_000251.2(MSH2):c.2634+5G>T rs267608017
NM_000251.2(MSH2):c.2635-1G>T rs267608020
NM_000251.2(MSH2):c.2635-2A>G rs1114167818
NM_000251.2(MSH2):c.277C>T (p.Leu93Phe) rs63751429
NM_000251.2(MSH2):c.301_306del (p.Glu101_Val102del) rs587779157
NM_000251.2(MSH2):c.340G>T (p.Glu114Ter) rs878853815
NM_000251.2(MSH2):c.354T>G (p.Tyr118Ter) rs1553350250
NM_000251.2(MSH2):c.366+1G>T rs267607924
NM_000251.2(MSH2):c.367-1G>A rs267607925
NM_000251.2(MSH2):c.491G>A (p.Gly164Glu) rs786204082
NM_000251.2(MSH2):c.493T>G (p.Tyr165Asp) rs587779163
NM_000251.2(MSH2):c.518T>C (p.Leu173Pro) rs63750070
NM_000251.2(MSH2):c.571_573delCTC rs587779165
NM_000251.2(MSH2):c.645+1G>T rs267607689
NM_000251.2(MSH2):c.646-2A>G rs587779169
NM_000251.2(MSH2):c.646-3_654del rs267607929
NM_000251.2(MSH2):c.646-?_792+?del
NM_000251.2(MSH2):c.793-2A>C rs267607933
NM_000251.2(MSH2):c.793-?_1276+?dup
NM_000251.2(MSH2):c.806C>A (p.Ser269Ter) rs63750058
NM_000251.2(MSH2):c.845_848del (p.Asp282fs) rs1553352462
NM_000251.2(MSH2):c.860dup (p.Gln288fs) rs193922375
NM_000251.2(MSH2):c.942+1G>T rs587779193
NM_000251.2(MSH2):c.942+2T>G rs587779195
NM_000251.2(MSH2):c.942+2_942+6del rs755583143
NM_000251.2(MSH2):c.942+2del rs587779194
NM_000251.2(MSH2):c.943-1G>A rs12476364
NM_000251.2(MSH2):c.943-1G>C rs12476364
NM_000251.2(MSH2):c.943-2A>G rs587779198
NM_000251.2(MSH2):c.997T>C (p.Cys333Arg) rs63750468
NM_000251.2:c.(?_1277)_(2634_?)del
NM_000251.3(MSH2):c.2211-1G>C
NM_000251.3(MSH2):c.356T>A (p.Leu119Ter)
NM_000251.3(MSH2):c.[2635-3C>T;2635-5T>C]
NM_001258281.1(MSH2):c.-31+91del rs1553348760
NM_001258281.1(MSH2):c.744+1del rs1194793421
NM_001258281.1(MSH2):c.848_849delinsGC (p.Pro283Arg) rs1558466685

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