ClinVar Miner

List of variants in gene MSH2 reported as pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 140
Download table as spreadsheet
HGVS dbSNP
NM_000251.2(MSH2):c.1008del (p.Gln337fs) rs879253899
NM_000251.2(MSH2):c.1009C>T (p.Gln337Ter) rs63750778
NM_000251.2(MSH2):c.1023del (p.Val342fs) rs864622340
NM_000251.2(MSH2):c.1030C>T (p.Gln344Ter) rs63750245
NM_000251.2(MSH2):c.1035G>A (p.Trp345Ter) rs63750396
NM_000251.2(MSH2):c.1042del (p.Gln348fs) rs1553353233
NM_000251.2(MSH2):c.1076+1G>A rs267607940
NM_000251.2(MSH2):c.1144del (p.Arg382fs) rs1553356605
NM_000251.2(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.2(MSH2):c.1157dup (p.Asp386fs) rs730881774
NM_000251.2(MSH2):c.1158_1167del (p.Asn388fs) rs1057517762
NM_000251.2(MSH2):c.1165C>T (p.Arg389Ter) rs587779075
NM_000251.2(MSH2):c.1176_1177del (p.Lys393fs) rs1553356643
NM_000251.2(MSH2):c.11_12delinsC (p.Gln4fs) rs1558451119
NM_000251.2(MSH2):c.11dup (p.Pro5fs) rs730881775
NM_000251.2(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.2(MSH2):c.1222dup (p.Tyr408fs) rs63751142
NM_000251.2(MSH2):c.1226_1227del (p.Gln409fs) rs63750086
NM_000251.2(MSH2):c.1229del (p.Gly410fs) rs1553356700
NM_000251.2(MSH2):c.1251_1268delinsAGTT (p.Ile418fs) rs863225388
NM_000251.2(MSH2):c.1255C>T (p.Gln419Ter) rs63750006
NM_000251.2(MSH2):c.1273G>T (p.Glu425Ter) rs1064795063
NM_000251.2(MSH2):c.1276+2T>C rs267607953
NM_000251.2(MSH2):c.1277-?_1386+?dup
NM_000251.2(MSH2):c.1277-?_2634+?del
NM_000251.2(MSH2):c.1351C>T (p.Gln451Ter) rs786201066
NM_000251.2(MSH2):c.1373T>G (p.Leu458Ter) rs63750521
NM_000251.2(MSH2):c.1394dup (p.Asn465fs) rs863225390
NM_000251.2(MSH2):c.142G>T (p.Glu48Ter) rs63750615
NM_000251.2(MSH2):c.1453_1456ATGA[1] (p.Asn486fs) rs1114167806
NM_000251.2(MSH2):c.1462_1463del (p.Leu488fs) rs876658834
NM_000251.2(MSH2):c.1465G>T (p.Glu489Ter) rs876658187
NM_000251.2(MSH2):c.1477C>T (p.Gln493Ter) rs63750936
NM_000251.2(MSH2):c.1511-2A>G rs267607962
NM_000251.2(MSH2):c.1525A>T (p.Lys509Ter) rs730881758
NM_000251.2(MSH2):c.1550_1551CA[1] (p.Gln518fs) rs63749930
NM_000251.2(MSH2):c.1552C>T (p.Gln518Ter) rs63750780
NM_000251.2(MSH2):c.1565_1568del (p.Tyr522fs) rs1064793561
NM_000251.2(MSH2):c.1566C>A (p.Tyr522Ter) rs63750224
NM_000251.2(MSH2):c.1570del (p.Arg524fs) rs1064795653
NM_000251.2(MSH2):c.1576del (p.Thr526fs) rs63750094
NM_000251.2(MSH2):c.1666_1672del (p.Leu556_Thr557insTer) rs1064794071
NM_000251.2(MSH2):c.1700_1704del (p.Lys567fs) rs63750474
NM_000251.2(MSH2):c.1705_1706del (p.Glu569fs) rs63750393
NM_000251.2(MSH2):c.1738G>T (p.Glu580Ter) rs63751411
NM_000251.2(MSH2):c.1744del (p.Val582fs) rs587779964
NM_000251.2(MSH2):c.1747_1748del (p.Asn583fs) rs1553367687
NM_000251.2(MSH2):c.1757C>G (p.Ser586Ter) rs1114167854
NM_000251.2(MSH2):c.1786_1788del (p.Asn596del) rs63749831
NM_000251.2(MSH2):c.1801C>T (p.Gln601Ter) rs63750047
NM_000251.2(MSH2):c.1812_1819dup (p.Ser607fs) rs1553368570
NM_000251.2(MSH2):c.181C>T (p.Gln61Ter) rs63750951
NM_000251.2(MSH2):c.1835C>G (p.Ser612Ter) rs63750493
NM_000251.2(MSH2):c.1853del (p.Pro618fs) rs267607984
NM_000251.2(MSH2):c.1861C>T (p.Arg621Ter) rs63750508
NM_000251.2(MSH2):c.1867del (p.Ala623fs) rs879254204
NM_000251.2(MSH2):c.187del (p.Gly62_Val63insTer) rs63750160
NM_000251.2(MSH2):c.1883del (p.Gly628fs) rs1064795127
NM_000251.2(MSH2):c.1906G>C (p.Ala636Pro) rs63750875
NM_000251.2(MSH2):c.1911del (p.Arg638fs) rs63750893
NM_000251.2(MSH2):c.1915C>T (p.His639Tyr) rs28929484
NM_000251.2(MSH2):c.1916_1919del (p.His639fs) rs730881776
NM_000251.2(MSH2):c.1933C>T (p.Gln645Ter) rs267607982
NM_000251.2(MSH2):c.1968C>A (p.Tyr656Ter) rs63751317
NM_000251.2(MSH2):c.1984C>T (p.Gln662Ter) rs786204321
NM_000251.2(MSH2):c.2005+1G>A rs267607986
NM_000251.2(MSH2):c.2027C>G (p.Ser676Ter) rs1057520735
NM_000251.2(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.2(MSH2):c.2041C>T (p.Gln681Ter) rs730881762
NM_000251.2(MSH2):c.2045_2047delinsTT (p.Thr682fs) rs1553369034
NM_000251.2(MSH2):c.204del (p.Pro69fs) rs63750199
NM_000251.2(MSH2):c.2079T>A (p.Cys693Ter) rs1553369089
NM_000251.2(MSH2):c.2091T>A (p.Cys697Ter) rs63750872
NM_000251.2(MSH2):c.2096C>G (p.Ser699Ter) rs587779136
NM_000251.2(MSH2):c.20del (p.Glu7fs) rs267607915
NM_000251.2(MSH2):c.211+1G>T rs1114167883
NM_000251.2(MSH2):c.2113del (p.Val705fs) rs63749811
NM_000251.2(MSH2):c.212-1G>A rs267607914
NM_000251.2(MSH2):c.2131C>T (p.Arg711Ter) rs63750636
NM_000251.2(MSH2):c.2152C>T (p.Gln718Ter) rs587779139
NM_000251.2(MSH2):c.2228C>A (p.Ser743Ter) rs63751155
NM_000251.2(MSH2):c.2236dup (p.Ile746fs) rs863225392
NM_000251.2(MSH2):c.226C>T (p.Gln76Ter) rs63750042
NM_000251.2(MSH2):c.2297del (p.Ile766fs) rs863225394
NM_000251.2(MSH2):c.2334C>A (p.Cys778Ter) rs63750618
NM_000251.2(MSH2):c.2362dup (p.Thr788fs) rs63750463
NM_000251.2(MSH2):c.2388del (p.Val797fs) rs63749983
NM_000251.2(MSH2):c.2458+1G>A rs267608010
NM_000251.2(MSH2):c.2459-2A>G rs267608011
NM_000251.2(MSH2):c.2502_2508del (p.Asn835fs) rs63751447
NM_000251.2(MSH2):c.2520_2521delinsT (p.Val840_Ile841insTer) rs587779147
NM_000251.2(MSH2):c.2536C>T (p.Gln846Ter) rs63750857
NM_000251.2(MSH2):c.2629_2630AG[2] (p.Glu878fs) rs63751618
NM_000251.2(MSH2):c.2629del (p.Arg877fs) rs886041613
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.289C>T (p.Gln97Ter) rs63750970
NM_000251.2(MSH2):c.294T>A (p.Tyr98Ter) rs763872353
NM_000251.2(MSH2):c.34dup (p.Glu12fs) rs63750614
NM_000251.2(MSH2):c.350G>A (p.Trp117Ter) rs786202083
NM_000251.2(MSH2):c.352_358del (p.Tyr118fs) rs879254025
NM_000251.2(MSH2):c.362del (p.Tyr121fs) rs1114167831
NM_000251.2(MSH2):c.366+1G>A rs267607924
NM_000251.2(MSH2):c.366+1G>T rs267607924
NM_000251.2(MSH2):c.380dup (p.Asn127fs) rs1558458884
NM_000251.2(MSH2):c.381_382TC[3] (p.Gln130fs) rs63750924
NM_000251.2(MSH2):c.388C>T (p.Gln130Ter) rs1060501989
NM_000251.2(MSH2):c.388_389del (p.Gln130fs) rs63750704
NM_000251.2(MSH2):c.39_48del (p.Ser13fs) rs1064795264
NM_000251.2(MSH2):c.425C>G (p.Ser142Ter) rs63750910
NM_000251.2(MSH2):c.495T>G (p.Tyr165Ter) rs63749949
NM_000251.2(MSH2):c.508C>T (p.Gln170Ter) rs63750843
NM_000251.2(MSH2):c.551del (p.Phe184fs) rs267607928
NM_000251.2(MSH2):c.568_570CTC[1] (p.Leu191del) rs587779165
NM_000251.2(MSH2):c.628_629del (p.Met210fs) rs1553350966
NM_000251.2(MSH2):c.643C>T (p.Gln215Ter) rs63751274
NM_000251.2(MSH2):c.686_687del (p.Lys229fs) rs63749897
NM_000251.2(MSH2):c.687del (p.Ala230fs) rs63749897
NM_000251.2(MSH2):c.704_705del (p.Lys235fs) rs281864944
NM_000251.2(MSH2):c.70C>T (p.Gln24Ter) rs587779976
NM_000251.2(MSH2):c.790C>T (p.Gln264Ter) rs878853824
NM_000251.2(MSH2):c.792+1delG rs1064794155
NM_000251.2(MSH2):c.806_807insTGTACCGCAGATT (p.Leu270fs) rs1064793863
NM_000251.2(MSH2):c.811_814del (p.Ser271fs) rs587779185
NM_000251.2(MSH2):c.839del (p.Leu280fs) rs63750091
NM_000251.2(MSH2):c.859G>T (p.Gly287Ter) rs63750276
NM_000251.2(MSH2):c.862C>T (p.Gln288Ter) rs63750097
NM_000251.2(MSH2):c.871del (p.Glu290_Leu291insTer) rs1064794809
NM_000251.2(MSH2):c.873_876del (p.Thr292fs) rs587779191
NM_000251.2(MSH2):c.876dup (p.Thr293fs) rs1553352505
NM_000251.2(MSH2):c.892C>T (p.Gln298Ter) rs63750934
NM_000251.2(MSH2):c.897T>G (p.Tyr299Ter) rs879254104
NM_000251.2(MSH2):c.912dup (p.Ala305fs) rs863224833
NM_000251.2(MSH2):c.932del (p.Asn311fs) rs587779979
NM_000251.2(MSH2):c.942+3A>T rs193922376
NM_000251.2(MSH2):c.970C>T (p.Gln324Ter) rs63750502
NM_000251.2(MSH2):c.998G>A (p.Cys333Tyr) rs63750828
NM_000251.2(MSH2):c.999T>G (p.Cys333Trp) rs1553353167

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.