ClinVar Miner

List of variants in gene PMS2 reported as uncertain significance for Lynch syndrome

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 261
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HGVS dbSNP
NM_000535.6(PMS2):c.(?_-1)_2006+?dup
NM_000535.6(PMS2):c.-101A>G rs587779325
NM_000535.7(PMS2):c.-13G>C rs747488315
NM_000535.7(PMS2):c.-4A>G rs544503598
NM_000535.7(PMS2):c.-7T>C rs199660792
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014
NM_000535.7(PMS2):c.1040A>G (p.Glu347Gly) rs878854031
NM_000535.7(PMS2):c.1041G>C (p.Glu347Asp) rs150515238
NM_000535.7(PMS2):c.1048C>T (p.Leu350Phe) rs587782875
NM_000535.7(PMS2):c.1053G>C (p.Leu351Phe) rs1060503145
NM_000535.7(PMS2):c.106A>C (p.Ser36Arg) rs587781918
NM_000535.7(PMS2):c.1080A>G (p.Ile360Met) rs567102013
NM_000535.7(PMS2):c.1096G>C (p.Asp366His) rs141769057
NM_000535.7(PMS2):c.1117A>G (p.Ser373Gly) rs1060503125
NM_000535.7(PMS2):c.1119T>G (p.Ser373Arg) rs1060503147
NM_000535.7(PMS2):c.1144+5del rs878854032
NM_000535.7(PMS2):c.1145-5C>T rs267608157
NM_000535.7(PMS2):c.1149C>G (p.Asn383Lys) rs1562637166
NM_000535.7(PMS2):c.1171G>C (p.Asp391His)
NM_000535.7(PMS2):c.11C>G (p.Ala4Gly) rs745361721
NM_000535.7(PMS2):c.122A>G (p.Glu41Gly) rs1562701448
NM_000535.7(PMS2):c.1237_1239del (p.Lys413del) rs267608159
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del) rs863224676
NM_000535.7(PMS2):c.1243G>A (p.Val415Met) rs138387687
NM_000535.7(PMS2):c.1262G>A (p.Arg421Gln) rs778482303
NM_000535.7(PMS2):c.1268C>G (p.Ala423Gly) rs756883400
NM_000535.7(PMS2):c.1271T>C (p.Phe424Ser) rs876661186
NM_000535.7(PMS2):c.130G>C (p.Glu44Gln) rs786202669
NM_000535.7(PMS2):c.1312A>C (p.Lys438Gln) rs878854033
NM_000535.7(PMS2):c.1322A>G (p.Glu441Gly) rs1562634610
NM_000535.7(PMS2):c.1343G>A (p.Gly448Glu) rs1060503118
NM_000535.7(PMS2):c.1354G>T (p.Gly452Cys) rs569947936
NM_000535.7(PMS2):c.1358T>C (p.Met453Thr) rs1060503130
NM_000535.7(PMS2):c.1359G>A (p.Met453Ile) rs886062401
NM_000535.7(PMS2):c.1361T>C (p.Leu454Pro) rs772659239
NM_000535.7(PMS2):c.1373C>T (p.Thr458Ile) rs755348833
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp) rs150201462
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn) rs121434629
NM_000535.7(PMS2):c.1384A>C (p.Ile462Leu) rs200116037
NM_000535.7(PMS2):c.1393A>C (p.Lys465Gln) rs1060503135
NM_000535.7(PMS2):c.1394A>G (p.Lys465Arg) rs141084758
NM_000535.7(PMS2):c.139C>G (p.Leu47Val) rs766203500
NM_000535.7(PMS2):c.1423G>A (p.Val475Met) rs864622579
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.1463C>T (p.Ala488Val) rs587779328
NM_000535.7(PMS2):c.1481C>T (p.Ser494Leu) rs587782602
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp) rs199739859
NM_000535.7(PMS2):c.1510G>C (p.Glu504Gln) rs368516768
NM_000535.7(PMS2):c.1511A>G (p.Glu504Gly) rs1254121331
NM_000535.7(PMS2):c.1534G>A (p.Gly512Ser) rs1060503127
NM_000535.7(PMS2):c.1540C>T (p.His514Tyr) rs878854036
NM_000535.7(PMS2):c.1552G>A (p.Glu518Lys) rs376142390
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys) rs63750649
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val) rs63751300
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr) rs63751132
NM_000535.7(PMS2):c.1576G>A (p.Asp526Asn) rs63750686
NM_000535.7(PMS2):c.1578C>G (p.Asp526Glu) rs63750236
NM_000535.7(PMS2):c.1593_1610dup (p.His532_Glu537dup) rs587780043
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys) rs115052399
NM_000535.7(PMS2):c.163+4A>G rs864622749
NM_000535.7(PMS2):c.1630G>A (p.Asp544Asn) rs876660139
NM_000535.7(PMS2):c.1654C>A (p.His552Asn) rs786204114
NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln) rs63750668
NM_000535.7(PMS2):c.1693T>G (p.Leu565Val) rs786202870
NM_000535.7(PMS2):c.1702C>T (p.Pro568Ser) rs786204115
NM_000535.7(PMS2):c.1703C>G (p.Pro568Arg) rs869312801
NM_000535.7(PMS2):c.1712T>A (p.Leu571His) rs1060503128
NM_000535.7(PMS2):c.1714G>A (p.Ala572Thr) rs63751023
NM_000535.7(PMS2):c.1714_1717delinsACAT (p.Ala572_Thr573delinsThrSer) rs1060503126
NM_000535.7(PMS2):c.1717A>T (p.Thr573Ser) rs63751211
NM_000535.7(PMS2):c.1726A>T (p.Thr576Ser) rs863224677
NM_000535.7(PMS2):c.1732C>T (p.Arg578Cys) rs63750534
NM_000535.7(PMS2):c.1753C>A (p.Leu585Ile) rs63750947
NM_000535.7(PMS2):c.1760G>A (p.Ser587Asn) rs762100304
NM_000535.7(PMS2):c.178G>A (p.Asp60Asn) rs587782176
NM_000535.7(PMS2):c.1796A>T (p.Asp599Val) rs878854039
NM_000535.7(PMS2):c.1798A>G (p.Met600Val) rs1304634005
NM_000535.7(PMS2):c.1850C>T (p.Pro617Leu) rs747785888
NM_000535.7(PMS2):c.1876G>C (p.Ala626Pro) rs587779331
NM_000535.7(PMS2):c.1903G>A (p.Glu635Lys) rs878854040
NM_000535.7(PMS2):c.1906G>A (p.Ala636Thr) rs876658863
NM_000535.7(PMS2):c.1918G>A (p.Glu640Lys) rs886062400
NM_000535.7(PMS2):c.1920A>G (p.Glu640=) rs1060503113
NM_000535.7(PMS2):c.1928A>G (p.Gln643Arg) rs760629688
NM_000535.7(PMS2):c.1936A>C (p.Arg646=) rs369582237
NM_000535.7(PMS2):c.1949C>T (p.Ala650Val) rs886062399
NM_000535.7(PMS2):c.194T>G (p.Leu65Arg) rs749141001
NM_000535.7(PMS2):c.1952A>G (p.Lys651Arg) rs267608167
NM_000535.7(PMS2):c.195T>C (p.Leu65=) rs780080040
NM_000535.7(PMS2):c.197T>C (p.Ile66Thr) rs769554577
NM_000535.7(PMS2):c.1980C>T (p.Ala660=) rs368928783
NM_000535.7(PMS2):c.1988A>C (p.Glu663Ala) rs587779332
NM_000535.7(PMS2):c.2007-117C>T rs587779334
NM_000535.7(PMS2):c.2007-6C>G rs376018314
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046
NM_000535.7(PMS2):c.2032A>C (p.Ile678Leu) rs878854041
NM_000535.7(PMS2):c.2036T>C (p.Ile679Thr) rs778251286
NM_000535.7(PMS2):c.2043G>T (p.Gln681His) rs876658953
NM_000535.7(PMS2):c.2062A>G (p.Ile688Val) rs1060503144
NM_000535.7(PMS2):c.2089A>G (p.Ile697Val) rs1554295859
NM_000535.7(PMS2):c.2093T>G (p.Val698Gly) rs1085308060
NM_000535.7(PMS2):c.2096A>G (p.Asp699Gly) rs878854043
NM_000535.7(PMS2):c.2108C>T (p.Thr703Met) rs370196722
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161
NM_000535.7(PMS2):c.2127C>G (p.Phe709Leu) rs199943748
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325
NM_000535.7(PMS2):c.2156A>G (p.Gln719Arg) rs587782559
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu) rs730881915
NM_000535.7(PMS2):c.2167C>G (p.Leu723Val) rs1456057054
NM_000535.7(PMS2):c.2171T>C (p.Ile724Thr) rs1060503123
NM_000535.7(PMS2):c.2174C>T (p.Ala725Val) rs150630090
NM_000535.7(PMS2):c.2177C>T (p.Pro726Leu) rs876658439
NM_000535.7(PMS2):c.2182A>G (p.Thr728Ala) rs141893001
NM_000535.7(PMS2):c.2184_2185TC[1] (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs) rs63750695
NM_000535.7(PMS2):c.220G>A (p.Gly74Arg) rs1554304979
NM_000535.7(PMS2):c.2212G>T (p.Val738Phe) rs758225108
NM_000535.7(PMS2):c.2240G>C (p.Arg747Thr) rs587782671
NM_000535.7(PMS2):c.2245A>G (p.Asn749Asp) rs878854045
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp) rs587779337
NM_000535.7(PMS2):c.2264T>C (p.Ile755Thr) rs386833410
NM_000535.7(PMS2):c.2278C>T (p.Pro760Ser) rs763468927
NM_000535.7(PMS2):c.229G>A (p.Glu77Lys) rs751235177
NM_000535.7(PMS2):c.23+7G>T rs878854047
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802
NM_000535.7(PMS2):c.2330C>G (p.Thr777Ser) rs777728316
NM_000535.7(PMS2):c.2347G>A (p.Val783Ile) rs553286217
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met) rs576055272
NM_000535.7(PMS2):c.2380C>T (p.Pro794Ser) rs773393960
NM_000535.7(PMS2):c.2389A>T (p.Met797Leu) rs1433888137
NM_000535.7(PMS2):c.2390T>G (p.Met797Arg) rs267608152
NM_000535.7(PMS2):c.2392T>C (p.Cys798Arg) rs1554293839
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp) rs149202766
NM_000535.7(PMS2):c.24-3T>C rs749485884
NM_000535.7(PMS2):c.2405G>A (p.Arg802Gln) rs1060503143
NM_000535.7(PMS2):c.240C>A (p.Phe80Leu) rs143162541
NM_000535.7(PMS2):c.241G>A (p.Glu81Lys) rs730881919
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu) rs587779338
NM_000535.7(PMS2):c.2445G>A (p.Ser815=) rs753199796
NM_000535.7(PMS2):c.2446-25_2446-23del rs587779339
NM_000535.7(PMS2):c.2447T>A (p.Val816Glu) rs1060503140
NM_000535.7(PMS2):c.2464C>G (p.Leu822Val) rs1554292873
NM_000535.7(PMS2):c.2466T>C (p.Leu822=) rs10000
NM_000535.7(PMS2):c.2471C>A (p.Thr824Lys) rs1354323014
NM_000535.7(PMS2):c.2502G>T (p.Met834Ile) rs1554292818
NM_000535.7(PMS2):c.251-11C>G rs761795058
NM_000535.7(PMS2):c.251-8T>C rs267608146
NM_000535.7(PMS2):c.2519C>T (p.Pro840Leu) rs1554292787
NM_000535.7(PMS2):c.251C>G (p.Thr84Ser) rs864622274
NM_000535.7(PMS2):c.2523G>A (p.Trp841Ter) rs587780057
NM_000535.7(PMS2):c.2528G>A (p.Cys843Tyr) rs267608174
NM_000535.7(PMS2):c.2550_2552delinsCGCCA (p.Met850fs) rs1064792975
NM_000535.7(PMS2):c.2560G>A (p.Ala854Thr) rs574371474
NM_000535.7(PMS2):c.256A>C (p.Lys86Gln) rs544441867
NM_000535.7(PMS2):c.25A>G (p.Thr9Ala) rs786202383
NM_000535.7(PMS2):c.288C>A (p.Ala96=) rs12532895
NM_000535.7(PMS2):c.291C>A (p.Asp97Glu) rs878854049
NM_000535.7(PMS2):c.29A>C (p.Glu10Ala) rs878854050
NM_000535.7(PMS2):c.30A>G (p.Glu10=) rs876660608
NM_000535.7(PMS2):c.320G>A (p.Arg107Gln) rs63751284
NM_000535.7(PMS2):c.325G>A (p.Glu109Lys) rs63749862
NM_000535.7(PMS2):c.328G>T (p.Ala110Ser) rs767775907
NM_000535.7(PMS2):c.331C>G (p.Leu111Val) rs864622232
NM_000535.7(PMS2):c.353+4A>G rs760538709
NM_000535.7(PMS2):c.353+6A>G rs376449640
NM_000535.7(PMS2):c.353G>T (p.Ser118Ile) rs1394474494
NM_000535.7(PMS2):c.354-5C>G rs200591010
NM_000535.7(PMS2):c.355G>T (p.Asp119Tyr) rs587781913
NM_000535.7(PMS2):c.364A>C (p.Ile122Leu) rs761748894
NM_000535.7(PMS2):c.378C>G (p.His126Gln) rs768488890
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169
NM_000535.7(PMS2):c.386C>T (p.Ala129Val) rs752284380
NM_000535.7(PMS2):c.409T>G (p.Phe137Val) rs1060503141
NM_000535.7(PMS2):c.412G>C (p.Asp138His) rs863224678
NM_000535.7(PMS2):c.43A>G (p.Ile15Val) rs878854051
NM_000535.7(PMS2):c.448C>T (p.Pro150Ser) rs1060503120
NM_000535.7(PMS2):c.451C>T (p.Arg151Cys) rs758561884
NM_000535.7(PMS2):c.452G>A (p.Arg151His) rs35629870
NM_000535.7(PMS2):c.455C>G (p.Pro152Arg) rs876660161
NM_000535.7(PMS2):c.466A>G (p.Thr156Ala) rs786204206
NM_000535.7(PMS2):c.471C>A (p.Val157=) rs878854052
NM_000535.7(PMS2):c.475G>A (p.Val159Met) rs142416537
NM_000535.7(PMS2):c.475G>C (p.Val159Leu) rs142416537
NM_000535.7(PMS2):c.487T>C (p.Phe163Leu) rs587780060
NM_000535.7(PMS2):c.494C>T (p.Thr165Ile) rs587781541
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro) rs116349687
NM_000535.7(PMS2):c.506G>A (p.Arg169His) rs730881917
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000535.7(PMS2):c.530T>C (p.Ile177Thr) rs769312937
NM_000535.7(PMS2):c.532_534AAG[1] (p.Lys179del) rs876661092
NM_000535.7(PMS2):c.537+4C>G rs864622272
NM_000535.7(PMS2):c.537+4C>T rs864622272
NM_000535.7(PMS2):c.537G>A (p.Lys179=) rs864622074
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342
NM_000535.7(PMS2):c.542A>T (p.Tyr181Phe) rs863224681
NM_000535.7(PMS2):c.544G>A (p.Ala182Thr) rs587779341
NM_000535.7(PMS2):c.552G>T (p.Met184Ile) rs764853641
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys) rs375289386
NM_000535.7(PMS2):c.58C>T (p.Arg20Trp) rs573374779
NM_000535.7(PMS2):c.595C>T (p.Arg199Cys) rs372297364
NM_000535.7(PMS2):c.598G>A (p.Val200Ile) rs587778620
NM_000535.7(PMS2):c.59G>C (p.Arg20Pro) rs10254120
NM_000535.7(PMS2):c.611A>G (p.Asn204Ser) rs777903002
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro) rs587779342
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) rs374704824
NM_000535.7(PMS2):c.620G>C (p.Gly207Ala) rs374704824
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln) rs587781934
NM_000535.7(PMS2):c.672G>C (p.Lys224Asn) rs748141595
NM_000535.7(PMS2):c.675A>C (p.Glu225Asp) rs876661233
NM_000535.7(PMS2):c.682G>A (p.Gly228Ser) rs376258383
NM_000535.7(PMS2):c.68T>G (p.Val23Gly) rs1060503114
NM_000535.7(PMS2):c.695G>A (p.Gly232Glu) rs201811667
NM_000535.7(PMS2):c.697C>G (p.Gln233Glu) rs587779343
NM_000535.7(PMS2):c.705+3A>G rs764334813
NM_000535.7(PMS2):c.706-20dup rs60794673
NM_000535.7(PMS2):c.706-4del rs60794673
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe) rs201395630
NM_000535.7(PMS2):c.710A>T (p.Gln237Leu) rs587780061
NM_000535.7(PMS2):c.712A>G (p.Ser238Gly) rs1060503149
NM_000535.7(PMS2):c.714C>A (p.Ser238Arg) rs151251082
NM_000535.7(PMS2):c.715C>T (p.Leu239Phe) rs1554301543
NM_000535.7(PMS2):c.727G>T (p.Val243Phe) rs867655834
NM_000535.7(PMS2):c.736C>A (p.Pro246Thr) rs765668173
NM_000535.7(PMS2):c.739C>T (p.Pro247Ser) rs878854058
NM_000535.7(PMS2):c.75G>T (p.Gln25His) rs1554306525
NM_000535.7(PMS2):c.766G>A (p.Gly256Ser) rs587782633
NM_000535.7(PMS2):c.773G>A (p.Ser258Asn) rs587780727
NM_000535.7(PMS2):c.787C>G (p.Leu263Val) rs587779345
NM_000535.7(PMS2):c.791A>C (p.His264Pro) rs1060503129
NM_000535.7(PMS2):c.804-10T>G rs267608151
NM_000535.7(PMS2):c.804-1G>A rs1562664845
NM_000535.7(PMS2):c.823C>G (p.Gln275Glu) rs587780062
NM_000535.7(PMS2):c.825A>T (p.Gln275His)
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly) rs116788608
NM_000535.7(PMS2):c.860G>A (p.Arg287Lys) rs1060503122
NM_000535.7(PMS2):c.868T>G (p.Phe290Val) rs587782833
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004
NM_000535.7(PMS2):c.877A>G (p.Asn293Asp) rs530993704
NM_000535.7(PMS2):c.881G>A (p.Arg294Gln) rs373239341
NM_000535.7(PMS2):c.890G>C (p.Cys297Ser) rs869312802
NM_000535.7(PMS2):c.893A>G (p.Asp298Gly) rs876658970
NM_000535.7(PMS2):c.89A>G (p.Gln30Arg) rs56203955
NM_000535.7(PMS2):c.8G>A (p.Arg3Gln) rs375507981
NM_000535.7(PMS2):c.917T>C (p.Val306Ala) rs786201878
NM_000535.7(PMS2):c.921T>G (p.Asn307Lys) rs587779346
NM_000535.7(PMS2):c.936G>A (p.Met312Ile) rs139194813
NM_000535.7(PMS2):c.938A>G (p.Tyr313Cys) rs587782513
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln) rs116314131
NM_000535.7(PMS2):c.949C>A (p.Gln317Lys) rs143277125
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys) rs139438201
NM_000535.7(PMS2):c.959T>G (p.Phe320Cys) rs1060503121
NM_000535.7(PMS2):c.962T>C (p.Val321Ala) rs186448384
NM_000535.7(PMS2):c.964G>A (p.Val322Ile) rs587782208
NM_000535.7(PMS2):c.983A>G (p.Asp328Gly) rs587782852
NM_000535.7(PMS2):c.988+78G>A rs267608155
NM_000535.7(PMS2):c.989-3T>C rs1156325177
NM_000535.7(PMS2):c.994G>A (p.Val332Ile) rs1236095389
NM_001322007.1(PMS2):c.-261T>A rs765248325
NM_001322007.1(PMS2):c.-263C>A rs886062402

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