ClinVar Miner

Variants in gene MSH2 with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 102
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.942+2T>A rs587779195 0.00101
NM_000251.3(MSH2):c.1862G>T (p.Arg621Leu) rs759263820 0.00003
NM_000251.2(MSH2):c.646-?_792+?del
NM_000251.3(MSH2):c.1003del (p.Thr335fs) rs1673074932
NM_000251.3(MSH2):c.1012G>A (p.Gly338Arg) rs63751004
NM_000251.3(MSH2):c.1015C>T (p.Gln339Ter) rs1558466577
NM_000251.3(MSH2):c.1023del (p.Val342fs) rs864622340
NM_000251.3(MSH2):c.1042del (p.Gln348fs) rs1553353233
NM_000251.3(MSH2):c.1046C>G (p.Pro349Arg) rs587779067
NM_000251.3(MSH2):c.1046C>T (p.Pro349Leu) rs587779067
NM_000251.3(MSH2):c.1077-1G>C rs267607944
NM_000251.3(MSH2):c.1077-1G>T rs267607944
NM_000251.3(MSH2):c.1139T>G (p.Leu380Ter) rs730881755
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.1276+1G>A rs267607950
NM_000251.3(MSH2):c.1276+2T>C rs267607953
NM_000251.3(MSH2):c.1277-1G>A rs267607948
NM_000251.3(MSH2):c.1319T>C (p.Leu440Pro) rs587779084
NM_000251.3(MSH2):c.1339_1340del (p.Phe447fs) rs1553361231
NM_000251.3(MSH2):c.1384C>T (p.Gln462Ter) rs876657701
NM_000251.3(MSH2):c.1386+1G>A rs267607957
NM_000251.3(MSH2):c.1386+2T>C rs1675076969
NM_000251.3(MSH2):c.1390G>T (p.Glu464Ter) rs876658223
NM_000251.3(MSH2):c.1401del (p.Glu467fs) rs1553365711
NM_000251.3(MSH2):c.1510+2T>C rs1060502023
NM_000251.3(MSH2):c.1511-1G>A rs267607964
NM_000251.3(MSH2):c.1511-2A>G rs267607962
NM_000251.3(MSH2):c.1563T>A (p.Tyr521Ter) rs63750330
NM_000251.3(MSH2):c.1566C>A (p.Tyr522Ter) rs63750224
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000251.3(MSH2):c.1587del (p.Glu530fs) rs63750845
NM_000251.3(MSH2):c.1613dup (p.Asn538fs)
NM_000251.3(MSH2):c.1661+1G>A rs267607969
NM_000251.3(MSH2):c.1661+1G>T rs267607969
NM_000251.3(MSH2):c.1661+2T>C rs1553366680
NM_000251.3(MSH2):c.1661G>A (p.Ser554Asn) rs63750597
NM_000251.3(MSH2):c.1741del (p.Ile581fs) rs63750141
NM_000251.3(MSH2):c.1759+1G>A rs587779108
NM_000251.3(MSH2):c.1760-1G>A rs587779110
NM_000251.3(MSH2):c.1911del (p.Arg638fs) rs63750893
NM_000251.3(MSH2):c.1915C>T (p.His639Tyr) rs28929484
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.2006-1G>T rs267607988
NM_000251.3(MSH2):c.2006-2A>G rs267607991
NM_000251.3(MSH2):c.2021G>A (p.Gly674Asp) rs267607996
NM_000251.3(MSH2):c.2027C>A (p.Ser676Ter)
NM_000251.3(MSH2):c.2060T>C (p.Leu687Pro) rs587779133
NM_000251.3(MSH2):c.2074G>A (p.Gly692Arg) rs63750232
NM_000251.3(MSH2):c.2074G>C (p.Gly692Arg) rs63750232
NM_000251.3(MSH2):c.2090G>A (p.Cys697Tyr) rs63750398
NM_000251.3(MSH2):c.20del (p.Glu7fs) rs267607915
NM_000251.3(MSH2):c.211G>C (p.Gly71Arg) rs587782659
NM_000251.3(MSH2):c.2168C>T (p.Ser723Phe) rs63750794
NM_000251.3(MSH2):c.2210+1G>A rs267608002
NM_000251.3(MSH2):c.2211-2A>G rs267608001
NM_000251.3(MSH2):c.2211-2A>T rs267608001
NM_000251.3(MSH2):c.2251G>A (p.Gly751Arg) rs63751119
NM_000251.3(MSH2):c.2251G>C (p.Gly751Arg) rs63751119
NM_000251.3(MSH2):c.2287G>C (p.Ala763Pro) rs1318630651
NM_000251.3(MSH2):c.2335dup (p.Met779fs) rs63750149
NM_000251.3(MSH2):c.2342del (p.Ala781fs)
NM_000251.3(MSH2):c.2365del (p.Ala789fs)
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.2485del (p.His829fs) rs63751117
NM_000251.3(MSH2):c.2502_2508del (p.Asn835fs) rs63751447
NM_000251.3(MSH2):c.2562del (p.Gln855fs) rs1114167836
NM_000251.3(MSH2):c.2634+1G>A rs267608019
NM_000251.3(MSH2):c.2634+1G>T rs267608019
NM_000251.3(MSH2):c.2634+5G>C rs267608017
NM_000251.3(MSH2):c.2634G>C (p.Glu878Asp) rs63751624
NM_000251.3(MSH2):c.2635-1G>A rs267608020
NM_000251.3(MSH2):c.2680dup (p.Met894fs) rs876658211
NM_000251.3(MSH2):c.301_306del (p.Glu101_Val102del) rs587779157
NM_000251.3(MSH2):c.354T>G (p.Tyr118Ter) rs1553350250
NM_000251.3(MSH2):c.366+1G>A rs267607924
NM_000251.3(MSH2):c.388C>T (p.Gln130Ter) rs1060501989
NM_000251.3(MSH2):c.448_449del (p.Gly149_Val150insTer)
NM_000251.3(MSH2):c.482T>A (p.Val161Asp) rs63750126
NM_000251.3(MSH2):c.518T>C (p.Leu173Pro) rs63750070
NM_000251.3(MSH2):c.528_529del (p.Cys176_Glu177delinsTer) rs587779164
NM_000251.3(MSH2):c.561_569del (p.Glu188_Leu190del) rs63750088
NM_000251.3(MSH2):c.645+2T>C rs876658996
NM_000251.3(MSH2):c.646-2A>G rs587779169
NM_000251.3(MSH2):c.646-3T>G rs267607930
NM_000251.3(MSH2):c.652C>T (p.Gln218Ter) rs587779170
NM_000251.3(MSH2):c.748G>T (p.Gly250Ter) rs864622183
NM_000251.3(MSH2):c.793-1G>A rs863225397
NM_000251.3(MSH2):c.793-2A>C rs267607933
NM_000251.3(MSH2):c.806C>A (p.Ser269Ter) rs63750058
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.942+1G>T rs587779193
NM_000251.3(MSH2):c.942+3A>C rs193922376
NM_000251.3(MSH2):c.943-1G>T rs12476364
NM_000251.3(MSH2):c.943-2A>G rs587779198
NM_000251.3(MSH2):c.998G>T (p.Cys333Phe) rs63750828
Single allele

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