ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 98
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.2458+2T>C rs1278858560 0.00001
NM_000251.2(MSH2):c.-78_-77del rs587779182
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.212-?_366+?dup
NM_000251.2(MSH2):c.646-?_792+?del
NM_000251.2(MSH2):c.793-?_1276+?dup
NM_000251.3(MSH2):c.1022T>C (p.Leu341Pro) rs63751147
NM_000251.3(MSH2):c.1076+1G>T rs267607940
NM_000251.3(MSH2):c.1077-1G>C rs267607944
NM_000251.3(MSH2):c.1077-1G>T rs267607944
NM_000251.3(MSH2):c.1077-2A>G rs267607943
NM_000251.3(MSH2):c.1077-2A>T rs267607943
NM_000251.3(MSH2):c.1224T>G (p.Tyr408Ter) rs63750132
NM_000251.3(MSH2):c.1251_1268delinsAGTT (p.Ile418fs) rs863225388
NM_000251.3(MSH2):c.1276+1G>C rs267607950
NM_000251.3(MSH2):c.1276+1G>T rs267607950
NM_000251.3(MSH2):c.1276+2T>A rs267607953
NM_000251.3(MSH2):c.1277-1G>A rs267607948
NM_000251.3(MSH2):c.1277-1G>C rs267607948
NM_000251.3(MSH2):c.1277-2A>C rs267607949
NM_000251.3(MSH2):c.1277-2A>T rs267607949
NM_000251.3(MSH2):c.1386+1G>A rs267607957
NM_000251.3(MSH2):c.1386+1G>C rs267607957
NM_000251.3(MSH2):c.1386+1G>T rs267607957
NM_000251.3(MSH2):c.1387-1G>T rs267607956
NM_000251.3(MSH2):c.1401del (p.Glu467fs) rs1553365711
NM_000251.3(MSH2):c.1510+1G>A rs1114167852
NM_000251.3(MSH2):c.1511-1G>A rs267607964
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000251.3(MSH2):c.1661+1G>A rs267607969
NM_000251.3(MSH2):c.1661+1G>T rs267607969
NM_000251.3(MSH2):c.1662-2A>G rs267607971
NM_000251.3(MSH2):c.1759+1G>A rs587779108
NM_000251.3(MSH2):c.1759+2T>C rs267607976
NM_000251.3(MSH2):c.1760-1G>A rs587779110
NM_000251.3(MSH2):c.1808A>G (p.Asp603Gly) rs267607985
NM_000251.3(MSH2):c.1829A>C (p.His610Pro)
NM_000251.3(MSH2):c.1832T>A (p.Val611Glu) rs1553368590
NM_000251.3(MSH2):c.1838dup (p.Asn613fs) rs1114167815
NM_000251.3(MSH2):c.1915C>T (p.His639Tyr) rs28929484
NM_000251.3(MSH2):c.1955C>A (p.Pro652His) rs267607983
NM_000251.3(MSH2):c.1979A>G (p.Asp660Gly) rs1085308057
NM_000251.3(MSH2):c.2005+1G>A rs267607986
NM_000251.3(MSH2):c.2005+1G>C rs267607986
NM_000251.3(MSH2):c.2005+1G>T rs267607986
NM_000251.3(MSH2):c.2005+2_2005+12del rs587779123
NM_000251.3(MSH2):c.2005+2del rs587779124
NM_000251.3(MSH2):c.2006-1G>C rs267607988
NM_000251.3(MSH2):c.2006-2A>G rs267607991
NM_000251.3(MSH2):c.2020G>C (p.Gly674Arg) rs63750234
NM_000251.3(MSH2):c.2021G>A (p.Gly674Asp) rs267607996
NM_000251.3(MSH2):c.2074G>C (p.Gly692Arg) rs63750232
NM_000251.3(MSH2):c.2074G>T (p.Gly692Trp) rs63750232
NM_000251.3(MSH2):c.2075G>A (p.Gly692Glu) rs63751432
NM_000251.3(MSH2):c.209C>T (p.Ala70Val) rs587782481
NM_000251.3(MSH2):c.211G>C (p.Gly71Arg) rs587782659
NM_000251.3(MSH2):c.212-2A>G rs267607917
NM_000251.3(MSH2):c.2210+1G>A rs267608002
NM_000251.3(MSH2):c.2210+1G>C rs267608002
NM_000251.3(MSH2):c.2211-1G>T rs267607979
NM_000251.3(MSH2):c.2211-2A>C rs267608001
NM_000251.3(MSH2):c.2211-2A>T rs267608001
NM_000251.3(MSH2):c.2245G>A (p.Glu749Lys) rs63751477
NM_000251.3(MSH2):c.2335dup (p.Met779fs) rs63750149
NM_000251.3(MSH2):c.2425G>T (p.Glu809Ter) rs202145681
NM_000251.3(MSH2):c.2458+1G>A rs267608010
NM_000251.3(MSH2):c.2459-12A>G rs267608012
NM_000251.3(MSH2):c.2459-1G>A rs1060501991
NM_000251.3(MSH2):c.2466T>A (p.Cys822Ter) rs63749846
NM_000251.3(MSH2):c.2634+1G>A rs267608019
NM_000251.3(MSH2):c.2634+1G>T rs267608019
NM_000251.3(MSH2):c.2635-1G>T rs267608020
NM_000251.3(MSH2):c.2680dup (p.Met894fs) rs876658211
NM_000251.3(MSH2):c.277C>T (p.Leu93Phe) rs63751429
NM_000251.3(MSH2):c.301_306del (p.Glu101_Val102del) rs587779157
NM_000251.3(MSH2):c.340G>T (p.Glu114Ter) rs878853815
NM_000251.3(MSH2):c.366+1G>T rs267607924
NM_000251.3(MSH2):c.367-1G>A rs267607925
NM_000251.3(MSH2):c.491G>A (p.Gly164Glu) rs786204082
NM_000251.3(MSH2):c.493T>G (p.Tyr165Asp) rs587779163
NM_000251.3(MSH2):c.645+1G>T rs267607689
NM_000251.3(MSH2):c.646-2A>G rs587779169
NM_000251.3(MSH2):c.646-3_654del rs267607929
NM_000251.3(MSH2):c.75del (p.Met26fs) rs1553348760
NM_000251.3(MSH2):c.792+1del rs1064794155
NM_000251.3(MSH2):c.793-2A>C rs267607933
NM_000251.3(MSH2):c.845_848del (p.Asp282fs) rs1553352462
NM_000251.3(MSH2):c.860dup (p.Gln288fs) rs193922375
NM_000251.3(MSH2):c.942+1G>T rs587779193
NM_000251.3(MSH2):c.942+2T>G rs587779195
NM_000251.3(MSH2):c.942+2del rs587779194
NM_000251.3(MSH2):c.943-1G>A rs12476364
NM_000251.3(MSH2):c.943-1G>C rs12476364
NM_000251.3(MSH2):c.943-2A>G rs587779198
NM_000251.3(MSH2):c.[2635-3C>T;2635-5T>C]
Single allele

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.