ClinVar Miner

List of variants in gene MSH2 reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 261
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HGVS dbSNP
NC_000002.11:g.(?_47630206)_(47630541_?)del
NC_000002.11:g.(?_47630206)_(47635694_?)del
NC_000002.11:g.(?_47630206)_(47710367_?)del
NC_000002.11:g.(?_47630321)_(47630551_?)del
NC_000002.11:g.(?_47630321)_(47632584_?)del
NC_000002.11:g.(?_47630321)_(47635704_?)del
NC_000002.11:g.(?_47630321)_(47641567_?)del
NC_000002.11:g.(?_47630321)_(47643578_?)del
NC_000002.11:g.(?_47630321)_(47657090_?)del
NC_000002.11:g.(?_47630321)_(47710098_?)del
NC_000002.11:g.(?_47630325)_(47637517_?)del
NC_000002.11:g.(?_47635530)_(47639709_?)del
NC_000002.11:g.(?_47635534)_(47641563_?)del
NC_000002.11:g.(?_47635534)_(47657086_?)del
NC_000002.11:g.(?_47637223)_(47657090_?)del
NC_000002.11:g.(?_47637223)_(47710098_?)del
NC_000002.11:g.(?_47639543)_(47643578_?)del
NC_000002.11:g.(?_47639553)_(47710367_?)del
NC_000002.11:g.(?_47643425)_(47643578_?)del
NC_000002.11:g.(?_47669476)_(47710098_?)del
NC_000002.11:g.(?_47690164)_(47702415_?)del
NC_000002.11:g.(?_47702154)_(47710098_?)del
NC_000002.11:g.(?_47702158)_(47708016_?)del
NC_000002.11:g.(?_47705401)_(47705668_?)del
NC_000002.11:g.(?_47705401)_(47708020_?)del
NC_000002.11:g.(?_47705401)_(47710098_?)del
NC_000002.11:g.(?_47709908)_(47710098_?)del
NM_000251.2(MSH2):c.(?_-1)_1076+?del
NM_000251.2(MSH2):c.-125_1076+?del
NM_000251.2(MSH2):c.-125_645+?del
NM_000251.2(MSH2):c.1007dup (p.Gln337fs) rs587779064
NM_000251.2(MSH2):c.1008del (p.Gln337fs) rs879253899
NM_000251.2(MSH2):c.1023del (p.Val342fs) rs864622340
NM_000251.2(MSH2):c.1034G>A (p.Trp345Ter) rs63751027
NM_000251.2(MSH2):c.1042C>T (p.Gln348Ter) rs979212552
NM_000251.2(MSH2):c.1046C>G (p.Pro349Arg) rs587779067
NM_000251.2(MSH2):c.1076+1G>A rs267607940
NM_000251.2(MSH2):c.1077-66_1146del rs193922372
NM_000251.2(MSH2):c.1077-?_1276+?del
NM_000251.2(MSH2):c.1111G>T (p.Glu371Ter)
NM_000251.2(MSH2):c.1120C>T (p.Gln374Ter) rs63750558
NM_000251.2(MSH2):c.1139T>G (p.Leu380Ter) rs730881755
NM_000251.2(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.2(MSH2):c.1151dup (p.Asp386fs)
NM_000251.2(MSH2):c.115del (p.Arg39fs) rs1553348794
NM_000251.2(MSH2):c.1165C>T (p.Arg389Ter) rs587779075
NM_000251.2(MSH2):c.119del (p.Gly40fs) rs63750984
NM_000251.2(MSH2):c.11_12delinsC (p.Gln4fs) rs1558451119
NM_000251.2(MSH2):c.1201_1204del (p.Leu401fs) rs1558478567
NM_000251.2(MSH2):c.1203dup (p.Gln402fs) rs63750586
NM_000251.2(MSH2):c.1204del (p.Gln402fs) rs63751413
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.1265_1269delinsGAAAAG (p.Glu422fs) rs63751667
NM_000251.2(MSH2):c.1276+1G>A rs267607950
NM_000251.2(MSH2):c.1276+1G>T rs267607950
NM_000251.2(MSH2):c.1276+2T>C rs267607953
NM_000251.2(MSH2):c.1277-?_1386+?del
NM_000251.2(MSH2):c.1277-?_1661+?del
NM_000251.2(MSH2):c.1277-?_2634+?del
NM_000251.2(MSH2):c.1285C>T (p.Gln429Ter) rs63751693
NM_000251.2(MSH2):c.1285del (p.Gln429fs) rs1114167833
NM_000251.2(MSH2):c.1308dup (p.Val437fs) rs1060502035
NM_000251.2(MSH2):c.1316_1317CT[1] (p.Leu440fs) rs587779083
NM_000251.2(MSH2):c.1339_1340del (p.Phe447fs) rs1553361231
NM_000251.2(MSH2):c.1344del (p.Lys449fs) rs876658918
NM_000251.2(MSH2):c.1351C>T (p.Gln451Ter) rs786201066
NM_000251.2(MSH2):c.1354G>T (p.Glu452Ter) rs267607954
NM_000251.2(MSH2):c.1373del (p.Thr457_Leu458insTer) rs1553361289
NM_000251.2(MSH2):c.1384C>T (p.Gln462Ter) rs876657701
NM_000251.2(MSH2):c.1386+1G>A rs267607957
NM_000251.2(MSH2):c.1387-10_1396delins20
NM_000251.2(MSH2):c.1387-?_1510+?del
NM_000251.2(MSH2):c.1387-?_1661+?del
NM_000251.2(MSH2):c.1396del (p.His466fs) rs1558508067
NM_000251.2(MSH2):c.1401del (p.Glu467fs) rs1553365711
NM_000251.2(MSH2):c.1404_1410del (p.Phe468fs) rs878853802
NM_000251.2(MSH2):c.1405del (p.Leu469_Val470insTer) rs1060502027
NM_000251.2(MSH2):c.1408del (p.Leu469_Val470insTer) rs63750384
NM_000251.2(MSH2):c.1413del (p.Lys471fs) rs1553365719
NM_000251.2(MSH2):c.141_154del (p.Glu48fs) rs863224481
NM_000251.2(MSH2):c.142G>T (p.Glu48Ter) rs63750615
NM_000251.2(MSH2):c.1442T>A (p.Leu481Ter) rs786203036
NM_000251.2(MSH2):c.1470_1473delinsAAA (p.Met492fs) rs1060502029
NM_000251.2(MSH2):c.1477C>T (p.Gln493Ter) rs63750936
NM_000251.2(MSH2):c.1478del (p.Gln493fs) rs1553365799
NM_000251.2(MSH2):c.1481C>G (p.Ser494Ter) rs370970617
NM_000251.2(MSH2):c.1491_1492insTT (p.Ser498fs) rs1558508343
NM_000251.2(MSH2):c.1520del (p.Pro507fs) rs1553366510
NM_000251.2(MSH2):c.1528C>T (p.Gln510Ter) rs587779097
NM_000251.2(MSH2):c.153dup (p.Leu52fs) rs1553348842
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.1563T>A (p.Tyr521Ter) rs63750330
NM_000251.2(MSH2):c.1565_1568del (p.Tyr522fs) rs1064793561
NM_000251.2(MSH2):c.1661+1G>A rs267607969
NM_000251.2(MSH2):c.1662-2A>G rs267607971
NM_000251.2(MSH2):c.1662-?_*(1_?)del
NM_000251.2(MSH2):c.1667dup (p.Leu556fs) rs267607694
NM_000251.2(MSH2):c.1687dup (p.Tyr563fs) rs587779103
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.1770del (p.Glu590fs)
NM_000251.2(MSH2):c.1771_1772insA (p.Pro591fs) rs267607977
NM_000251.2(MSH2):c.1777C>T (p.Gln593Ter) rs63750200
NM_000251.2(MSH2):c.1786_1788del (p.Asn596del) rs63749831
NM_000251.2(MSH2):c.1796del (p.Val598_Leu599insTer) rs1060502039
NM_000251.2(MSH2):c.1801C>T (p.Gln601Ter) rs63750047
NM_000251.2(MSH2):c.1801_1805del (p.Gln601fs)
NM_000251.2(MSH2):c.181C>T (p.Gln61Ter) rs63750951
NM_000251.2(MSH2):c.1827del (p.His610fs) rs587779112
NM_000251.2(MSH2):c.182del (p.Gln61fs) rs1553348882
NM_000251.2(MSH2):c.1835C>G (p.Ser612Ter) rs63750493
NM_000251.2(MSH2):c.1857T>G (p.Tyr619Ter) rs63750312
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.1911del (p.Arg638fs) rs63750893
NM_000251.2(MSH2):c.191del (p.Ile64fs)
NM_000251.2(MSH2):c.192dup (p.Lys65fs) rs1553348896
NM_000251.2(MSH2):c.1935del (p.Asp646fs)
NM_000251.2(MSH2):c.1939G>T (p.Glu647Ter)
NM_000251.2(MSH2):c.193_194insTC (p.Lys65fs) rs1553348898
NM_000251.2(MSH2):c.1959del (p.Asn653fs)
NM_000251.2(MSH2):c.1963_1964del (p.Val655fs) rs864622121
NM_000251.2(MSH2):c.1968C>A (p.Tyr656Ter) rs63751317
NM_000251.2(MSH2):c.1968del (p.Phe657fs) rs1114167805
NM_000251.2(MSH2):c.1985dup (p.Met663fs)
NM_000251.2(MSH2):c.198C>A (p.Tyr66Ter)
NM_000251.2(MSH2):c.2003del (p.Thr668fs)
NM_000251.2(MSH2):c.2006-?_2210+?del
NM_000251.2(MSH2):c.2006G>T (p.Gly669Val) rs63751640
NM_000251.2(MSH2):c.2010del (p.Asn671fs) rs63751123
NM_000251.2(MSH2):c.2010dup (p.Asn671fs)
NM_000251.2(MSH2):c.2034T>A (p.Tyr678Ter) rs1558519611
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.2047G>A (p.Gly683Arg) rs267607995
NM_000251.2(MSH2):c.2060del (p.Leu687fs)
NM_000251.2(MSH2):c.2063T>G (p.Met688Arg) rs63749993
NM_000251.2(MSH2):c.206del (p.Pro69fs) rs1553348904
NM_000251.2(MSH2):c.2082del (p.Phe694fs) rs63750689
NM_000251.2(MSH2):c.2085dup (p.Pro696fs) rs1553369100
NM_000251.2(MSH2):c.2089T>C (p.Cys697Arg) rs63750961
NM_000251.2(MSH2):c.2096C>G (p.Ser699Ter) rs587779136
NM_000251.2(MSH2):c.211+1G>T rs1114167883
NM_000251.2(MSH2):c.2113del (p.Val705fs) rs63749811
NM_000251.2(MSH2):c.2116del (p.Asp706fs) rs1553369131
NM_000251.2(MSH2):c.212-?_1076+?del
NM_000251.2(MSH2):c.212-?_366+?del
NM_000251.2(MSH2):c.2131C>T (p.Arg711Ter) rs63750636
NM_000251.2(MSH2):c.2135dup (p.Gly713fs) rs63751453
NM_000251.2(MSH2):c.2150_2153del (p.Ser717fs) rs878853809
NM_000251.2(MSH2):c.2152C>T (p.Gln718Ter) rs587779139
NM_000251.2(MSH2):c.2161G>T (p.Gly721Ter) rs1060502032
NM_000251.2(MSH2):c.2179del (p.Ala727fs)
NM_000251.2(MSH2):c.217A>T (p.Lys73Ter) rs770110491
NM_000251.2(MSH2):c.2204del (p.Ile735fs) rs63750572
NM_000251.2(MSH2):c.2228C>G (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.2275G>T (p.Gly759Ter) rs63749854
NM_000251.2(MSH2):c.227_228AG[1] (p.Ser77fs) rs63749848
NM_000251.2(MSH2):c.2283del (p.Gly761_Leu762insTer) rs786204050
NM_000251.2(MSH2):c.2291G>A (p.Trp764Ter) rs587779143
NM_000251.2(MSH2):c.2297del (p.Ile766fs) rs863225394
NM_000251.2(MSH2):c.2300C>G (p.Ser767Ter) rs863225395
NM_000251.2(MSH2):c.2307C>G (p.Tyr769Ter)
NM_000251.2(MSH2):c.2335dup (p.Met779fs) rs63750149
NM_000251.2(MSH2):c.2369del (p.Leu790fs) rs1558521949
NM_000251.2(MSH2):c.2446C>T (p.Gln816Ter) rs63749917
NM_000251.2(MSH2):c.2470C>T (p.Gln824Ter) rs63750623
NM_000251.2(MSH2):c.2474del (p.Ser825fs)
NM_000251.2(MSH2):c.2481del (p.Ile828fs)
NM_000251.2(MSH2):c.2523_2524AG[1] (p.Glu842fs) rs587779148
NM_000251.2(MSH2):c.2523dup (p.Glu842fs) rs1553370366
NM_000251.2(MSH2):c.2532dup (p.Lys845Ter) rs1553370371
NM_000251.2(MSH2):c.2557G>T (p.Glu853Ter) rs1553370397
NM_000251.2(MSH2):c.2563C>T (p.Gln855Ter) rs1553370404
NM_000251.2(MSH2):c.2575G>T (p.Glu859Ter) rs63749830
NM_000251.2(MSH2):c.2579C>A (p.Ser860Ter) rs63750849
NM_000251.2(MSH2):c.2585dup (p.Tyr863fs) rs1553370431
NM_000251.2(MSH2):c.2588dup (p.Tyr863Ter) rs1553370435
NM_000251.2(MSH2):c.2626G>T (p.Glu876Ter)
NM_000251.2(MSH2):c.2629_2630AG[2] (p.Glu878fs) rs63751618
NM_000251.2(MSH2):c.2634G>A (p.Glu878=) rs63751624
NM_000251.2(MSH2):c.2635C>T (p.Gln879Ter) rs63751469
NM_000251.2(MSH2):c.2640_2656del (p.Glu881fs) rs1064792951
NM_000251.2(MSH2):c.2647del (p.Ile883fs) rs63750084
NM_000251.2(MSH2):c.2647dup (p.Ile883fs) rs63750084
NM_000251.2(MSH2):c.264dup (p.Val89fs) rs267607920
NM_000251.2(MSH2):c.2656G>T (p.Glu886Ter) rs1230083633
NM_000251.2(MSH2):c.2662del (p.Leu888fs) rs63751007
NM_000251.2(MSH2):c.289C>T (p.Gln97Ter) rs63750970
NM_000251.2(MSH2):c.28C>T (p.Gln10Ter) rs63751099
NM_000251.2(MSH2):c.292_293TA[1] (p.Tyr98_Arg99delinsTer) rs1553350167
NM_000251.2(MSH2):c.301G>T (p.Glu101Ter) rs63750318
NM_000251.2(MSH2):c.340G>T (p.Glu114Ter) rs878853815
NM_000251.2(MSH2):c.34dup (p.Glu12fs) rs63750614
NM_000251.2(MSH2):c.350G>A (p.Trp117Ter) rs786202083
NM_000251.2(MSH2):c.362del (p.Tyr121fs) rs1114167831
NM_000251.2(MSH2):c.366+1G>A rs267607924
NM_000251.2(MSH2):c.367-525_493del rs1553350466
NM_000251.2(MSH2):c.367-?_1076+?del
NM_000251.2(MSH2):c.367-?_1386+?del
NM_000251.2(MSH2):c.367-?_645+?del
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.408del (p.Phe136fs) rs63750408
NM_000251.2(MSH2):c.419_420AT[1] (p.Met141fs) rs1553350680
NM_000251.2(MSH2):c.437_438GT[3] (p.Val148fs) rs1558459096
NM_000251.2(MSH2):c.475del (p.Arg159fs) rs1553350758
NM_000251.2(MSH2):c.478C>T (p.Gln160Ter) rs63751426
NM_000251.2(MSH2):c.508C>T (p.Gln170Ter) rs63750843
NM_000251.2(MSH2):c.510dup (p.Arg171fs) rs1553350787
NM_000251.2(MSH2):c.525_532del (p.Cys176fs) rs1114167877
NM_000251.2(MSH2):c.577C>T (p.Gln193Ter) rs63751326
NM_000251.2(MSH2):c.610G>T (p.Gly204Ter) rs63750574
NM_000251.2(MSH2):c.628_629del (p.Met210fs) rs1553350966
NM_000251.2(MSH2):c.643del (p.Gln215fs) rs1558459882
NM_000251.2(MSH2):c.655dup (p.Arg219fs) rs1558461615
NM_000251.2(MSH2):c.679del (p.Arg227fs)
NM_000251.2(MSH2):c.680_681del (p.Arg227fs) rs1558461683
NM_000251.2(MSH2):c.686_687del (p.Lys229fs) rs63749897
NM_000251.2(MSH2):c.687del (p.Ala230fs) rs63749897
NM_000251.2(MSH2):c.687dup (p.Ala230fs) rs63749897
NM_000251.2(MSH2):c.704_705del (p.Lys235fs) rs281864944
NM_000251.2(MSH2):c.715C>T (p.Gln239Ter) rs63750488
NM_000251.2(MSH2):c.748G>T (p.Gly250Ter) rs864622183
NM_000251.2(MSH2):c.754C>T (p.Gln252Ter) rs63750347
NM_000251.2(MSH2):c.782_783insA (p.Met261fs) rs786204144
NM_000251.2(MSH2):c.790C>T (p.Gln264Ter) rs878853824
NM_000251.2(MSH2):c.793-?_1076+?del
NM_000251.2(MSH2):c.811_814del (p.Ser271fs) rs587779185
NM_000251.2(MSH2):c.812_813del (p.Ser271fs)
NM_000251.2(MSH2):c.819_821delinsTG (p.Ile274fs) rs864622261
NM_000251.2(MSH2):c.830T>A (p.Leu277Ter) rs786203424
NM_000251.2(MSH2):c.832G>T (p.Glu278Ter)
NM_000251.2(MSH2):c.842C>G (p.Ser281Ter) rs63749991
NM_000251.2(MSH2):c.85A>T (p.Lys29Ter) rs1060502001
NM_000251.2(MSH2):c.860dup (p.Gln288fs) rs193922375
NM_000251.2(MSH2):c.862C>T (p.Gln288Ter) rs63750097
NM_000251.2(MSH2):c.873_876del (p.Thr292fs) rs587779191
NM_000251.2(MSH2):c.876dup (p.Thr293fs) rs1553352505
NM_000251.2(MSH2):c.87_90del (p.Thr31fs) rs1060502000
NM_000251.2(MSH2):c.892C>T (p.Gln298Ter) rs63750934
NM_000251.2(MSH2):c.912dup (p.Ala305fs) rs863224833
NM_000251.2(MSH2):c.932del (p.Asn311fs) rs587779979
NM_000251.2(MSH2):c.934del (p.Leu312fs) rs267607937
NM_000251.2(MSH2):c.939del (p.Gln314fs) rs796532309
NM_000251.2(MSH2):c.940C>T (p.Gln314Ter) rs1114167845
NM_000251.2(MSH2):c.942+3A>T rs193922376
NM_000251.2(MSH2):c.943-1G>A rs12476364
NM_000251.2(MSH2):c.943-1G>T rs12476364
NM_000251.2(MSH2):c.961_1006del (p.Thr321fs) rs1553353114
NM_000251.2(MSH2):c.979del (p.Ala327fs) rs1558466434
Single allele

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