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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 249

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000251.3(MSH2):c.942+2T>A	rs587779195	0.00101
NM_000251.3(MSH2):c.942+3A>T	rs193922376	0.00072
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro)	rs63750875	0.00003
NM_000251.3(MSH2):c.2047G>A (p.Gly683Arg)	rs267607995	0.00001
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter)	rs63750636	0.00001
GRCh37/hg19 2p21(chr2:47630331-47672796)x1
GRCh37/hg19 2p21(chr2:47707835-47710088)x1
NM_000251.2(MSH2):c.1277-?_1386+?dup
NM_000251.2:c.-125_1076del
NM_000251.3(MSH2):c.(1276+1_1277-1)_(2634+1_2635-1)del
NM_000251.3(MSH2):c.-1_212-2403del
NM_000251.3(MSH2):c.1003del (p.Thr335fs)	rs1673074932
NM_000251.3(MSH2):c.1008del (p.Gln337fs)	rs879253899
NM_000251.3(MSH2):c.1009C>T (p.Gln337Ter)	rs63750778
NM_000251.3(MSH2):c.1023del (p.Val342fs)	rs864622340
NM_000251.3(MSH2):c.1030C>T (p.Gln344Ter)	rs63750245
NM_000251.3(MSH2):c.1035G>A (p.Trp345Ter)	rs63750396
NM_000251.3(MSH2):c.1042C>T (p.Gln348Ter)	rs979212552
NM_000251.3(MSH2):c.1042del (p.Gln348fs)	rs1553353233
NM_000251.3(MSH2):c.1066_1070del (p.Ile356fs)	rs1673082068
NM_000251.3(MSH2):c.1072G>T (p.Glu358Ter)
NM_000251.3(MSH2):c.1076+1G>A	rs267607940
NM_000251.3(MSH2):c.1077-1G>C	rs267607944
NM_000251.3(MSH2):c.1077_1276del	rs1553356518
NM_000251.3(MSH2):c.1119del (p.Arg373fs)	rs63750516
NM_000251.3(MSH2):c.1120C>T (p.Gln374Ter)	rs63750558
NM_000251.3(MSH2):c.1144del (p.Arg382fs)	rs1553356605
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter)	rs63749849
NM_000251.3(MSH2):c.1157dup (p.Asp386fs)	rs730881774
NM_000251.3(MSH2):c.1158_1167del (p.Asn388fs)	rs1057517762
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter)	rs587779075
NM_000251.3(MSH2):c.1176_1177del (p.Lys393fs)	rs1553356643
NM_000251.3(MSH2):c.1189C>T (p.Gln397Ter)	rs63750611
NM_000251.3(MSH2):c.11_12delinsC (p.Gln4fs)	rs1558451119
NM_000251.3(MSH2):c.11dup (p.Pro5fs)	rs730881775
NM_000251.3(MSH2):c.1201_1202dup (p.Leu401fs)	rs869312768
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter)	rs63751108
NM_000251.3(MSH2):c.1222dup (p.Tyr408fs)	rs63751142
NM_000251.3(MSH2):c.1225C>T (p.Gln409Ter)	rs151244108
NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs)	rs63750086
NM_000251.3(MSH2):c.1229del (p.Gly410fs)	rs1553356700
NM_000251.3(MSH2):c.1237C>T (p.Gln413Ter)	rs863225387
NM_000251.3(MSH2):c.1251_1268delinsAGTT (p.Ile418fs)	rs863225388
NM_000251.3(MSH2):c.1252dup (p.Ile418fs)	rs1114167830
NM_000251.3(MSH2):c.1255C>T (p.Gln419Ter)	rs63750006
NM_000251.3(MSH2):c.1273G>T (p.Glu425Ter)	rs1064795063
NM_000251.3(MSH2):c.1276+1G>A	rs267607950
NM_000251.3(MSH2):c.1276+1G>T	rs267607950
NM_000251.3(MSH2):c.1276+2T>C	rs267607953
NM_000251.3(MSH2):c.1285C>T (p.Gln429Ter)	rs63751693
NM_000251.3(MSH2):c.1300del (p.Ala434fs)
NM_000251.3(MSH2):c.1321dup (p.Thr441fs)	rs63750807
NM_000251.3(MSH2):c.1351C>T (p.Gln451Ter)	rs786201066
NM_000251.3(MSH2):c.1363_1364del (p.Glu455fs)	rs1675074248
NM_000251.3(MSH2):c.1373T>G (p.Leu458Ter)	rs63750521
NM_000251.3(MSH2):c.1386+1G>T	rs267607957
NM_000251.3(MSH2):c.1386+2T>C	rs1675076969
NM_000251.3(MSH2):c.1387-5_1510+1293del
NM_000251.3(MSH2):c.1394dup (p.Asn465fs)	rs863225390
NM_000251.3(MSH2):c.1399G>T (p.Glu467Ter)	rs587779089
NM_000251.3(MSH2):c.1405del (p.Leu469_Val470insTer)	rs1060502027
NM_000251.3(MSH2):c.142G>T (p.Glu48Ter)	rs63750615
NM_000251.3(MSH2):c.1447G>T (p.Glu483Ter)	rs63749947
NM_000251.3(MSH2):c.1447_1448del (p.Glu483fs)	rs63750161
NM_000251.3(MSH2):c.1457_1460del (p.Asn486fs)	rs1114167806
NM_000251.3(MSH2):c.1462_1463del (p.Leu488fs)	rs876658834
NM_000251.3(MSH2):c.1465G>T (p.Glu489Ter)	rs876658187
NM_000251.3(MSH2):c.1477C>T (p.Gln493Ter)	rs63750936
NM_000251.3(MSH2):c.1510+2T>C	rs1060502023
NM_000251.3(MSH2):c.1511-2A>G	rs267607962
NM_000251.3(MSH2):c.1525A>T (p.Lys509Ter)	rs730881758
NM_000251.3(MSH2):c.1552C>T (p.Gln518Ter)	rs63750780
NM_000251.3(MSH2):c.1552_1553del (p.Gln518fs)	rs63749930
NM_000251.3(MSH2):c.1557del (p.Phe519fs)	rs1553366554
NM_000251.3(MSH2):c.1565_1568del (p.Tyr522fs)	rs1064793561
NM_000251.3(MSH2):c.1566C>A (p.Tyr522Ter)	rs63750224
NM_000251.3(MSH2):c.1570del (p.Arg524fs)	rs1064795653
NM_000251.3(MSH2):c.1576del (p.Thr526fs)	rs63750094
NM_000251.3(MSH2):c.1587del (p.Glu530fs)	rs63750845
NM_000251.3(MSH2):c.163del (p.Arg55fs)	rs63750337
NM_000251.3(MSH2):c.1661+1G>A	rs267607969
NM_000251.3(MSH2):c.1662-2_1759+1del	rs2104272766
NM_000251.3(MSH2):c.1666_1672del (p.Leu556_Thr557insTer)	rs1064794071
NM_000251.3(MSH2):c.1679del (p.Asn560fs)	rs63750054
NM_000251.3(MSH2):c.1700_1704del (p.Lys567fs)	rs63750474
NM_000251.3(MSH2):c.1705_1706del (p.Glu569fs)	rs63750393
NM_000251.3(MSH2):c.1738G>T (p.Glu580Ter)	rs63751411
NM_000251.3(MSH2):c.1744del (p.Val582fs)	rs587779964
NM_000251.3(MSH2):c.1747_1748del (p.Asn583fs)	rs1553367687
NM_000251.3(MSH2):c.1757C>G (p.Ser586Ter)	rs1114167854
NM_000251.3(MSH2):c.1759+1G>A	rs587779108
NM_000251.3(MSH2):c.1759+2T>A	rs267607976
NM_000251.3(MSH2):c.1759+3A>G	rs863224630
NM_000251.3(MSH2):c.1760-1G>A	rs587779110
NM_000251.3(MSH2):c.1760-3_2006-300del
NM_000251.3(MSH2):c.1777C>T (p.Gln593Ter)	rs63750200
NM_000251.3(MSH2):c.1786_1788del (p.Asn596del)	rs63749831
NM_000251.3(MSH2):c.1801C>T (p.Gln601Ter)	rs63750047
NM_000251.3(MSH2):c.1812_1819dup (p.Ser607fs)	rs1553368570
NM_000251.3(MSH2):c.181C>T (p.Gln61Ter)	rs63750951
NM_000251.3(MSH2):c.1831_1846del (p.Val611fs)	rs1667236103
NM_000251.3(MSH2):c.1835C>G (p.Ser612Ter)	rs63750493
NM_000251.3(MSH2):c.1853del (p.Pro618fs)	rs267607984
NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter)	rs63750508
NM_000251.3(MSH2):c.1865C>T (p.Pro622Leu)	rs28929483
NM_000251.3(MSH2):c.1867del (p.Ala623fs)	rs879254204
NM_000251.3(MSH2):c.1876G>T (p.Glu626Ter)	rs1667240403
NM_000251.3(MSH2):c.187del (p.Gly62_Val63insTer)	rs63750160
NM_000251.3(MSH2):c.1882G>T (p.Gly628Ter)	rs371776176
NM_000251.3(MSH2):c.1883del (p.Gly628fs)	rs1064795127
NM_000251.3(MSH2):c.1911del (p.Arg638fs)	rs63750893
NM_000251.3(MSH2):c.1915C>T (p.His639Tyr)	rs28929484
NM_000251.3(MSH2):c.1916_1919del (p.His639fs)	rs730881776
NM_000251.3(MSH2):c.1933C>T (p.Gln645Ter)	rs267607982
NM_000251.3(MSH2):c.1968C>A (p.Tyr656Ter)	rs63751317
NM_000251.3(MSH2):c.1982_1985del (p.Lys661fs)	rs587779120
NM_000251.3(MSH2):c.1984C>T (p.Gln662Ter)	rs786204321
NM_000251.3(MSH2):c.1986_1987del (p.Gln662fs)	rs587779122
NM_000251.3(MSH2):c.1986del (p.Met663fs)	rs63749929
NM_000251.3(MSH2):c.1_211+1068del
NM_000251.3(MSH2):c.2005+1G>A	rs267607986
NM_000251.3(MSH2):c.2006G>T (p.Gly669Val)	rs63751640
NM_000251.3(MSH2):c.2027C>G (p.Ser676Ter)	rs1057520735
NM_000251.3(MSH2):c.2030C>G (p.Thr677Arg)	rs876660711
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter)	rs63749932
NM_000251.3(MSH2):c.2040del (p.Gln681fs)	rs2104370049
NM_000251.3(MSH2):c.2041C>T (p.Gln681Ter)	rs730881762
NM_000251.3(MSH2):c.2045_2047delinsTT (p.Thr682fs)	rs1553369034
NM_000251.3(MSH2):c.204del (p.Pro69fs)	rs63750199
NM_000251.3(MSH2):c.2063T>G (p.Met688Arg)	rs63749993
NM_000251.3(MSH2):c.2075G>T (p.Gly692Val)	rs63751432
NM_000251.3(MSH2):c.2079T>A (p.Cys693Ter)	rs1553369089
NM_000251.3(MSH2):c.2082del (p.Phe694fs)	rs63750689
NM_000251.3(MSH2):c.2091T>A (p.Cys697Ter)	rs63750872
NM_000251.3(MSH2):c.2096C>G (p.Ser699Ter)	rs587779136
NM_000251.3(MSH2):c.20del (p.Glu7fs)	rs267607915
NM_000251.3(MSH2):c.211+1G>T	rs1114167883
NM_000251.3(MSH2):c.2113del (p.Val705fs)	rs63749811
NM_000251.3(MSH2):c.212-1G>A	rs267607914
NM_000251.3(MSH2):c.212-2A>G	rs267607917
NM_000251.3(MSH2):c.212-4_363del	rs2103974611
NM_000251.3(MSH2):c.2135dup (p.Gly713fs)	rs63751453
NM_000251.3(MSH2):c.2145del (p.Asp716fs)	rs1553369164
NM_000251.3(MSH2):c.2152C>T (p.Gln718Ter)	rs587779139
NM_000251.3(MSH2):c.2211-2A>T	rs267608001
NM_000251.3(MSH2):c.2228C>A (p.Ser743Ter)	rs63751155
NM_000251.3(MSH2):c.2228C>G (p.Ser743Ter)	rs63751155
NM_000251.3(MSH2):c.2236dup (p.Ile746fs)	rs863225392
NM_000251.3(MSH2):c.226C>T (p.Gln76Ter)	rs63750042
NM_000251.3(MSH2):c.2297del (p.Ile766fs)	rs863225394
NM_000251.3(MSH2):c.229_230del (p.Ser77fs)	rs63749848
NM_000251.3(MSH2):c.2334C>A (p.Cys778Ter)	rs63750618
NM_000251.3(MSH2):c.2362dup (p.Thr788fs)	rs63750463
NM_000251.3(MSH2):c.2388del (p.Val797fs)	rs63749983
NM_000251.3(MSH2):c.2425G>T (p.Glu809Ter)	rs202145681
NM_000251.3(MSH2):c.2458+1G>A	rs267608010
NM_000251.3(MSH2):c.2459-2A>G	rs267608011
NM_000251.3(MSH2):c.2466_2467del (p.Cys822_Asp823delinsTer)	rs63751621
NM_000251.3(MSH2):c.2470C>T (p.Gln824Ter)	rs63750623
NM_000251.3(MSH2):c.2485del (p.His829fs)	rs63751117
NM_000251.3(MSH2):c.2502_2508del (p.Asn835fs)	rs63751447
NM_000251.3(MSH2):c.2520_2521delinsT (p.Val840_Ile841insTer)	rs587779147
NM_000251.3(MSH2):c.2523dup (p.Glu842fs)	rs1553370366
NM_000251.3(MSH2):c.2536C>T (p.Gln846Ter)	rs63750857
NM_000251.3(MSH2):c.2539_2542del (p.Lys847fs)	rs1667496297
NM_000251.3(MSH2):c.2563C>T (p.Gln855Ter)	rs1553370404
NM_000251.3(MSH2):c.2629del (p.Arg877fs)	rs886041613
NM_000251.3(MSH2):c.2633_2634del (p.Glu878fs)	rs63751618
NM_000251.3(MSH2):c.2634+1G>A	rs267608019
NM_000251.3(MSH2):c.2634+2T>G	rs876660546
NM_000251.3(MSH2):c.2635-3_2805del	rs2104459054
NM_000251.3(MSH2):c.2635C>T (p.Gln879Ter)	rs63751469
NM_000251.3(MSH2):c.2647del (p.Ile883fs)	rs63750084
NM_000251.3(MSH2):c.2647dup (p.Ile883fs)	rs63750084
NM_000251.3(MSH2):c.2653C>T (p.Gln885Ter)	rs63750808
NM_000251.3(MSH2):c.266del (p.Val89fs)	rs2103978746
NM_000251.3(MSH2):c.2680_2681dup (p.Met894fs)	rs1667578908
NM_000251.3(MSH2):c.2680dup (p.Met894fs)	rs876658211
NM_000251.3(MSH2):c.289C>T (p.Gln97Ter)	rs63750970
NM_000251.3(MSH2):c.294T>A (p.Tyr98Ter)	rs763872353
NM_000251.3(MSH2):c.321del (p.Gly108fs)	rs1573436948
NM_000251.3(MSH2):c.340G>T (p.Glu114Ter)	rs878853815
NM_000251.3(MSH2):c.347_350del (p.Asp116fs)	rs63750501
NM_000251.3(MSH2):c.34dup (p.Glu12fs)	rs63750614
NM_000251.3(MSH2):c.350G>A (p.Trp117Ter)	rs786202083
NM_000251.3(MSH2):c.351G>A (p.Trp117Ter)	rs1558457486
NM_000251.3(MSH2):c.352_358del (p.Tyr118fs)	rs879254025
NM_000251.3(MSH2):c.362del (p.Tyr121fs)	rs1114167831
NM_000251.3(MSH2):c.366+1G>A	rs267607924
NM_000251.3(MSH2):c.366+1G>T	rs267607924
NM_000251.3(MSH2):c.367-3_645+631del	rs2104016493
NM_000251.3(MSH2):c.380dup (p.Asn127fs)	rs1558458884
NM_000251.3(MSH2):c.387_388del (p.Gln130fs)	rs63750924
NM_000251.3(MSH2):c.388C>T (p.Gln130Ter)	rs1060501989
NM_000251.3(MSH2):c.388_389del (p.Gln130fs)	rs63750704
NM_000251.3(MSH2):c.39_48del (p.Ser13fs)	rs1064795264
NM_000251.3(MSH2):c.421_422del (p.Met141fs)	rs1553350680
NM_000251.3(MSH2):c.425C>G (p.Ser142Ter)	rs63750910
NM_000251.3(MSH2):c.475dup (p.Arg159fs)	rs786204319
NM_000251.3(MSH2):c.478_479del (p.Gln160fs)	rs2104025532
NM_000251.3(MSH2):c.484G>A (p.Gly162Arg)	rs63750624
NM_000251.3(MSH2):c.495T>G (p.Tyr165Ter)	rs63749949
NM_000251.3(MSH2):c.508C>T (p.Gln170Ter)	rs63750843
NM_000251.3(MSH2):c.528_529del (p.Cys176_Glu177delinsTer)	rs587779164
NM_000251.3(MSH2):c.538del (p.Asp180fs)	rs2104031033
NM_000251.3(MSH2):c.547C>T (p.Gln183Ter)	rs63750037
NM_000251.3(MSH2):c.551del (p.Phe184fs)	rs267607928
NM_000251.3(MSH2):c.568CTC[1] (p.Leu191del)	rs587779165
NM_000251.3(MSH2):c.577C>T (p.Gln193Ter)	rs63751326
NM_000251.3(MSH2):c.628_629del (p.Met210fs)	rs1553350966
NM_000251.3(MSH2):c.643C>T (p.Gln215Ter)	rs63751274
NM_000251.3(MSH2):c.643_644del (p.Gln215fs)	rs1573442100
NM_000251.3(MSH2):c.645+1G>A	rs267607689
NM_000251.3(MSH2):c.645+1G>C	rs267607689
NM_000251.3(MSH2):c.645+2T>C	rs876658996
NM_000251.3(MSH2):c.646-1G>C	rs1114167888
NM_000251.3(MSH2):c.646-2A>G	rs587779169
NM_000251.3(MSH2):c.680_683del (p.Arg227fs)	rs587782537
NM_000251.3(MSH2):c.686_687del (p.Lys229fs)	rs63749897
NM_000251.3(MSH2):c.687del (p.Ala230fs)	rs63749897
NM_000251.3(MSH2):c.704_705del (p.Lys235fs)	rs281864944
NM_000251.3(MSH2):c.70C>T (p.Gln24Ter)	rs587779976
NM_000251.3(MSH2):c.788_789del (p.Asn263fs)	rs63751614
NM_000251.3(MSH2):c.790C>T (p.Gln264Ter)	rs878853824
NM_000251.3(MSH2):c.792+1del	rs1064794155
NM_000251.3(MSH2):c.793-2_943-14del
NM_000251.3(MSH2):c.806_807insTGTACCGCAGATT (p.Leu270fs)	rs1064793863
NM_000251.3(MSH2):c.811_814del (p.Ser271fs)	rs587779185
NM_000251.3(MSH2):c.832G>T (p.Glu278Ter)	rs1558464008
NM_000251.3(MSH2):c.839del (p.Leu280fs)	rs63750091
NM_000251.3(MSH2):c.859G>T (p.Gly287Ter)	rs63750276
NM_000251.3(MSH2):c.862C>T (p.Gln288Ter)	rs63750097
NM_000251.3(MSH2):c.870_874del (p.Glu290fs)	rs1114167848
NM_000251.3(MSH2):c.871del (p.Glu290_Leu291insTer)	rs1064794809
NM_000251.3(MSH2):c.873_876del (p.Thr292fs)	rs587779191
NM_000251.3(MSH2):c.876dup (p.Thr293fs)	rs1553352505
NM_000251.3(MSH2):c.892C>T (p.Gln298Ter)	rs63750934
NM_000251.3(MSH2):c.897T>G (p.Tyr299Ter)	rs879254104
NM_000251.3(MSH2):c.912dup (p.Ala305fs)	rs863224833
NM_000251.3(MSH2):c.915_922dup (p.Arg308fs)	rs63750046
NM_000251.3(MSH2):c.932del (p.Asn311fs)	rs587779979
NM_000251.3(MSH2):c.942+1G>T	rs587779193
NM_000251.3(MSH2):c.942+2T>G	rs587779195
NM_000251.3(MSH2):c.943-1G>C	rs12476364
NM_000251.3(MSH2):c.943-1G>T	rs12476364
NM_000251.3(MSH2):c.970C>T (p.Gln324Ter)	rs63750502
NM_000251.3(MSH2):c.997T>C (p.Cys333Arg)	rs63750468
NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr)	rs63750828
NM_000251.3(MSH2):c.999T>G (p.Cys333Trp)	rs1553353167

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