ClinVar Miner

List of variants in gene PMS2 reported as likely pathogenic for colorectal cancer

Included ClinVar conditions (75):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 224
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333 0.00004
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161 0.00003
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu) rs587779338 0.00002
NM_000535.7(PMS2):c.1144+1G>A rs373885654 0.00001
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter) rs587778617 0.00001
NM_000535.7(PMS2):c.1471G>T (p.Glu491Ter) rs1064794577 0.00001
NM_000535.7(PMS2):c.164-1G>A rs763308607 0.00001
NM_000535.7(PMS2):c.2007-2A>C rs587782336 0.00001
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu) rs730881915 0.00001
NM_000535.7(PMS2):c.2174+1G>A rs267608172 0.00001
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp) rs587779337 0.00001
NM_000535.7(PMS2):c.23+1G>T rs587782074 0.00001
NM_000535.7(PMS2):c.251-2A>T rs587779340 0.00001
NM_000535.7(PMS2):c.2T>C (p.Met1Thr) rs587780059 0.00001
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp) rs188006077 0.00001
NM_000535.7(PMS2):c.506G>A (p.Arg169His) rs730881917 0.00001
NM_000535.7(PMS2):c.538-1G>C rs988423880 0.00001
NM_000535.7(PMS2):c.538-2A>G rs758304323 0.00001
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro) rs587779342 0.00001
NM_000535.7(PMS2):c.706-2A>G rs745487791 0.00001
NM_000535.7(PMS2):c.709C>T (p.Gln237Ter) rs1458321358 0.00001
NM_000535.7(PMS2):c.804-2A>G rs1307026290 0.00001
NM_000535.7(PMS2):c.825A>G (p.Gln275=) rs876659736 0.00001
NC_000007.13:g.(6013174_6017218)_(6037055_6038738)del
NC_000007.13:g.(6018328_6022454)_(6027252_6029430)dup
NC_000007.13:g.(6031689_6035164)_(6037055_6038738)del
NC_000007.13:g.(?_6010555)_(6037055_6038738)del
NC_000007.13:g.(?_6026380)_(6027261_?)dup
NC_000007.13:g.(?_6026384)_(6027257_?)dup
NC_000007.13:g.(?_6036951)_(6038912_?)dup
NC_000007.13:g.(?_6045513)_(6045672_?)dup
NC_000007.14:g.(?_5977578)_(5983001_?)dup
NM_000535.6(PMS2):c.1145-?_2174+?dup1030
NM_000535.6(PMS2):c.2007-?_2174+?del
NM_000535.7(PMS2):c.1111_1112del (p.Asn371fs) rs1583334346
NM_000535.7(PMS2):c.1112A>T (p.Asn371Ile) rs1783517960
NM_000535.7(PMS2):c.1120C>T (p.Gln374Ter) rs1437858319
NM_000535.7(PMS2):c.1144+1G>C rs373885654
NM_000535.7(PMS2):c.1144+1G>T rs373885654
NM_000535.7(PMS2):c.1144+1del rs2128746842
NM_000535.7(PMS2):c.1144+2T>A rs267608158
NM_000535.7(PMS2):c.1144+2T>G
NM_000535.7(PMS2):c.1144+5G>C rs1783506726
NM_000535.7(PMS2):c.1144G>C (p.Gly382Arg) rs779512948
NM_000535.7(PMS2):c.1145-2A>G rs1325835006
NM_000535.7(PMS2):c.1151T>A (p.Leu384Ter)
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del) rs863224676
NM_000535.7(PMS2):c.1254del (p.Arg419fs)
NM_000535.7(PMS2):c.1336_1402del (p.Ser445_Pro446insTer) rs1562633331
NM_000535.7(PMS2):c.1348A>T (p.Lys450Ter) rs1060503142
NM_000535.7(PMS2):c.1351del (p.Arg451fs) rs1562634268
NM_000535.7(PMS2):c.1366del (p.Ser456fs) rs1583320992
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn) rs121434629
NM_000535.7(PMS2):c.1418_1419del (p.Glu473fs) rs1783098862
NM_000535.7(PMS2):c.1552G>T (p.Glu518Ter)
NM_000535.7(PMS2):c.155dup (p.Thr52_Asn53insTer)
NM_000535.7(PMS2):c.1571dup (p.Gly525fs) rs1554297534
NM_000535.7(PMS2):c.1588C>T (p.Gln530Ter)
NM_000535.7(PMS2):c.162_163insAATT (p.Asp55delinsAsnTer) rs1554306288
NM_000535.7(PMS2):c.163+1G>A rs1064795705
NM_000535.7(PMS2):c.163+1G>T rs1064795705
NM_000535.7(PMS2):c.163+2T>C rs587779329
NM_000535.7(PMS2):c.163+5G>C
NM_000535.7(PMS2):c.1634_1635del (p.Ser545fs) rs753256070
NM_000535.7(PMS2):c.1638_1639del (p.Ser547fs) rs863224498
NM_000535.7(PMS2):c.1639dup (p.Ser547fs) rs863224498
NM_000535.7(PMS2):c.164-1G>C rs763308607
NM_000535.7(PMS2):c.164-1G>T
NM_000535.7(PMS2):c.164-2A>G rs587779324
NM_000535.7(PMS2):c.1666del (p.Glu556fs)
NM_000535.7(PMS2):c.1675G>T (p.Gly559Ter)
NM_000535.7(PMS2):c.1709dup (p.Asn570fs) rs1783004175
NM_000535.7(PMS2):c.1721del (p.Pro574fs) rs1583316404
NM_000535.7(PMS2):c.1731_1732delinsAGT (p.Arg578fs) rs1057515572
NM_000535.7(PMS2):c.1778del (p.Lys593fs) rs766389591
NM_000535.7(PMS2):c.1802C>G (p.Ser601Ter) rs63750456
NM_000535.7(PMS2):c.1810C>T (p.Gln604Ter) rs1064793426
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.1859_1860insAT (p.Phe620fs) rs756358866
NM_000535.7(PMS2):c.1909C>T (p.Gln637Ter) rs1554297125
NM_000535.7(PMS2):c.1911_1912delinsAT (p.Gln638Ter) rs1782941753
NM_000535.7(PMS2):c.1938del (p.Lys647fs) rs2128720948
NM_000535.7(PMS2):c.1970del (p.Asn657fs) rs1064794566
NM_000535.7(PMS2):c.1A>C (p.Met1Leu) rs587779333
NM_000535.7(PMS2):c.2002A>G (p.Ile668Val) rs869320619
NM_000535.7(PMS2):c.2006+1G>A rs1554297040
NM_000535.7(PMS2):c.2006+1G>C rs1554297040
NM_000535.7(PMS2):c.2006_2006+4del rs771928911
NM_000535.7(PMS2):c.2007-1G>A rs267608170
NM_000535.7(PMS2):c.2007-1G>C
NM_000535.7(PMS2):c.2007-1_2009del
NM_000535.7(PMS2):c.2007-2A>G rs587782336
NM_000535.7(PMS2):c.2007-2_2007-1delinsCA rs1782473185
NM_000535.7(PMS2):c.2007-4_2007-1delinsACAC rs1562616355
NM_000535.7(PMS2):c.2039G>A (p.Gly680Asp)
NM_000535.7(PMS2):c.2095G>C (p.Asp699His) rs587781317
NM_000535.7(PMS2):c.211_214del (p.Asn71fs)
NM_000535.7(PMS2):c.2137C>T (p.Gln713Ter) rs876659900
NM_000535.7(PMS2):c.2174+1G>C rs267608172
NM_000535.7(PMS2):c.2174+1G>T
NM_000535.7(PMS2):c.2175-1G>A
NM_000535.7(PMS2):c.2175-1G>C rs1562605623
NM_000535.7(PMS2):c.2175-2A>G
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.220G>C (p.Gly74Arg) rs1554304979
NM_000535.7(PMS2):c.2212_2213del (p.Val738fs)
NM_000535.7(PMS2):c.221G>A (p.Gly74Glu)
NM_000535.7(PMS2):c.2247T>A (p.Asn749Lys) rs200824831
NM_000535.7(PMS2):c.2247T>G (p.Asn749Lys)
NM_000535.7(PMS2):c.2275+1G>A rs1554294393
NM_000535.7(PMS2):c.2275+1G>C rs1554294393
NM_000535.7(PMS2):c.2275+1G>T rs1554294393
NM_000535.7(PMS2):c.2275+2T>C rs1562604682
NM_000535.7(PMS2):c.2276-1G>C rs2128676082
NM_000535.7(PMS2):c.2276-2A>C rs1554294019
NM_000535.7(PMS2):c.23+1G>A rs587782074
NM_000535.7(PMS2):c.23+21_23+28del rs1554308880
NM_000535.7(PMS2):c.23+2T>G rs2128865814
NM_000535.7(PMS2):c.2397_2400dup (p.Ser801fs) rs2128672594
NM_000535.7(PMS2):c.239_250+2del
NM_000535.7(PMS2):c.24-12_107delinsAAAT rs1554306445
NM_000535.7(PMS2):c.24-1G>A rs1785723689
NM_000535.7(PMS2):c.2410A>T (p.Lys804Ter) rs2128672286
NM_000535.7(PMS2):c.241G>T (p.Glu81Ter) rs730881919
NM_000535.7(PMS2):c.2444_2445insTT (p.Val816fs) rs2128671557
NM_000535.7(PMS2):c.2445+1G>A rs876661113
NM_000535.7(PMS2):c.2445+1G>C rs876661113
NM_000535.7(PMS2):c.2445+1G>T rs876661113
NM_000535.7(PMS2):c.2465T>C (p.Leu822Pro) rs587781636
NM_000535.7(PMS2):c.2489T>C (p.Leu830Pro) rs1781502574
NM_000535.7(PMS2):c.250+1G>A
NM_000535.7(PMS2):c.2501T>C (p.Met834Thr)
NM_000535.7(PMS2):c.2506del (p.Glu836fs) rs2128658092
NM_000535.7(PMS2):c.251-1G>C
NM_000535.7(PMS2):c.251-1G>T rs764171734
NM_000535.7(PMS2):c.251-2A>C rs587779340
NM_000535.7(PMS2):c.251-2A>G rs587779340
NM_000535.7(PMS2):c.2528G>C (p.Cys843Ser)
NM_000535.7(PMS2):c.2529del (p.His845fs)
NM_000535.7(PMS2):c.2531C>A (p.Pro844His) rs587782787
NM_000535.7(PMS2):c.2533del (p.His845fs) rs1064796500
NM_000535.7(PMS2):c.2534A>G (p.His845Arg) rs1554292741
NM_000535.7(PMS2):c.2535T>G (p.His845Gln)
NM_000535.7(PMS2):c.2536G>T (p.Gly846Ter) rs1583269216
NM_000535.7(PMS2):c.2549T>G (p.Met850Arg) rs1781486223
NM_000535.7(PMS2):c.269_270dup (p.Lys91fs) rs1554304745
NM_000535.7(PMS2):c.2T>A (p.Met1Lys) rs587780059
NM_000535.7(PMS2):c.304del (p.Glu102fs)
NM_000535.7(PMS2):c.353+1G>A rs113517055
NM_000535.7(PMS2):c.353+2T>A
NM_000535.7(PMS2):c.353+2T>C rs111466480
NM_000535.7(PMS2):c.353+2T>G
NM_000535.7(PMS2):c.353G>A (p.Ser118Asn) rs1394474494
NM_000535.7(PMS2):c.353G>C (p.Ser118Thr)
NM_000535.7(PMS2):c.354-1G>A rs786203954
NM_000535.7(PMS2):c.354-2A>G rs786202098
NM_000535.7(PMS2):c.354-41_514del rs2128815961
NM_000535.7(PMS2):c.445del (p.Tyr149fs) rs769742496
NM_000535.7(PMS2):c.452_457delinsCCCCC (p.Arg151fs)
NM_000535.7(PMS2):c.457del (p.Arg153fs) rs1785207289
NM_000535.7(PMS2):c.485T>A (p.Leu162Ter) rs1785199575
NM_000535.7(PMS2):c.520C>T (p.Gln174Ter) rs1221485925
NM_000535.7(PMS2):c.537+1G>A rs863224450
NM_000535.7(PMS2):c.537+1del rs1064793868
NM_000535.7(PMS2):c.538-1G>A rs988423880
NM_000535.7(PMS2):c.538-2A>C rs758304323
NM_000535.7(PMS2):c.538-2A>T
NM_000535.7(PMS2):c.538-65_589delinsGCAACATCCAATTGGT
NM_000535.7(PMS2):c.538G>T (p.Glu180Ter)
NM_000535.7(PMS2):c.564dup (p.His189fs)
NM_000535.7(PMS2):c.573C>A (p.Tyr191Ter)
NM_000535.7(PMS2):c.641_644dup (p.Cys216fs) rs1784802468
NM_000535.7(PMS2):c.678_681dup (p.Gly228fs) rs1562677687
NM_000535.7(PMS2):c.705+1G>A rs267608147
NM_000535.7(PMS2):c.705+1G>C rs267608147
NM_000535.7(PMS2):c.705+1G>T rs267608147
NM_000535.7(PMS2):c.705+2T>C rs1784783734
NM_000535.7(PMS2):c.706-1G>A rs1202370194
NM_000535.7(PMS2):c.706-1G>T
NM_000535.7(PMS2):c.706-2A>T rs745487791
NM_000535.7(PMS2):c.706-73_748del
NM_000535.7(PMS2):c.733_741delinsGCTGTGCTGTGAAG (p.Leu245_Pro247delinsAlaValLeuTer) rs1554301495
NM_000535.7(PMS2):c.733_741delinsGCTGTGTTGTGAAG (p.Leu245_Pro247delinsAlaValLeuTer) rs1554301495
NM_000535.7(PMS2):c.741del (p.Ser248fs) rs1583374709
NM_000535.7(PMS2):c.746_753del (p.Asp249fs) rs587782710
NM_000535.7(PMS2):c.746_755del (p.Asp249fs)
NM_000535.7(PMS2):c.756_757del (p.Cys252_Glu253delinsTer) rs1064794905
NM_000535.7(PMS2):c.790_803+5del
NM_000535.7(PMS2):c.793_803+7del
NM_000535.7(PMS2):c.79del (p.Cys27fs)
NM_000535.7(PMS2):c.803+1G>A rs1562669585
NM_000535.7(PMS2):c.803+1G>T rs1562669585
NM_000535.7(PMS2):c.803+2T>G
NM_000535.7(PMS2):c.803+5G>A rs939641251
NM_000535.7(PMS2):c.804-10T>G rs267608151
NM_000535.7(PMS2):c.804-11A>G
NM_000535.7(PMS2):c.804-1G>A rs1562664845
NM_000535.7(PMS2):c.804-1G>C
NM_000535.7(PMS2):c.804-1G>T
NM_000535.7(PMS2):c.811G>C (p.Gly271Arg)
NM_000535.7(PMS2):c.841G>T (p.Gly281Ter)
NM_000535.7(PMS2):c.851del (p.Ser283_Ser284insTer) rs876658964
NM_000535.7(PMS2):c.860dup (p.Gln288fs) rs2128775362
NM_000535.7(PMS2):c.873del (p.Phe291fs) rs1261282733
NM_000535.7(PMS2):c.903+1G>A rs1554300689
NM_000535.7(PMS2):c.903+1G>C rs1554300689
NM_000535.7(PMS2):c.903+1G>T rs1554300689
NM_000535.7(PMS2):c.903+2T>C rs878854059
NM_000535.7(PMS2):c.903G>A (p.Lys301=) rs267608153
NM_000535.7(PMS2):c.903G>C (p.Lys301Asn)
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn) rs267608153
NM_000535.7(PMS2):c.904-1G>A rs779064342
NM_000535.7(PMS2):c.904-2A>C rs587781339
NM_000535.7(PMS2):c.904-2A>G rs587781339
NM_000535.7(PMS2):c.917T>A (p.Val306Glu) rs786201878
NM_000535.7(PMS2):c.939T>A (p.Tyr313Ter) rs1562651617
NM_000535.7(PMS2):c.988+1G>C rs757110564
NM_000535.7(PMS2):c.988+1G>T rs757110564
NM_000535.7(PMS2):c.989-1G>C
NM_000535.7(PMS2):c.989-2A>G rs587779347
NM_000535.7(PMS2):c.9_23+7del rs1562711587
NM_000535.7:c.(1144+1_1145-1)_(2174+1_2175-1)dup
Single allele

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