ClinVar Miner

List of variants in gene PTEN reported as pathogenic for PTEN hamartoma tumor syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 560
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.802-2A>T rs587782455 0.00005
NM_000314.8(PTEN):c.289C>T (p.Gln97Ter) rs786204928 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) rs121913293 0.00001
NM_000314.8(PTEN):c.518G>A (p.Arg173His) rs121913294 0.00001
NM_000314.8(PTEN):c.523G>A (p.Val175Met) rs1860417734 0.00001
NM_000314.8(PTEN):c.586del (p.His196fs) rs587776670 0.00001
NM_000314.8(PTEN):c.77C>T (p.Thr26Ile) rs786204853 0.00001
NC_000010.10:g.(?_89624218)_(89624340_?)del
NC_000010.10:g.(?_89653772)_(89693018_?)del
NC_000010.10:g.(?_89671794)_(89711969_?)del
NC_000010.10:g.(?_89685260)_(89685324_?)del
NC_000010.10:g.(?_89685260)_(89693018_?)del
NC_000010.10:g.(?_89685260)_(89725321_?)del
NC_000010.10:g.(?_89690793)_(89693018_?)del
NC_000010.10:g.(?_89692750)_(89693028_?)del
NC_000010.10:g.(?_89692750)_(89712036_?)del
NC_000010.10:g.(?_89717600)_(89717786_?)del
NC_000010.10:g.(?_89717600)_(89720885_?)del
NC_000010.10:g.(?_89720519)_(89720783_?)del
NC_000010.10:g.(?_89720641)_(89725321_?)del
NC_000010.10:g.89711945_89711946insAlu
NC_000010.11:g.(?_87894015)_(87894119_?)del
NC_000010.11:g.(?_87894025)_(87894109_?)del
NC_000010.11:g.(?_87925503)_(87965482_?)del
NC_000010.11:g.(?_87931026)_(87958039_?)del
NC_000010.11:g.(?_87931036)_(87931099_?)del
NC_000010.11:g.(?_87931040)_(87933257_?)del
NC_000010.11:g.(?_87952108)_(87952269_?)del
NC_000010.11:g.(?_87952112)_(87952265_?)del
NC_000010.11:g.(?_87960884)_(87961128_?)del
NC_000010.11:g.(?_87960888)_(87961124_?)del
NC_000010.11:g.87952119del rs2132268865
NM_000314.6(PTEN):c.80-?_492+?del
NM_000314.8(PTEN):c.-312_18del (p.Met1_Lys6del)
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.1003del (p.Arg335fs) rs1860633095
NM_000314.8(PTEN):c.1004G>A (p.Arg335Gln) rs1085308040
NM_000314.8(PTEN):c.1006dup (p.Tyr336fs) rs1554825631
NM_000314.8(PTEN):c.1007dup (p.Tyr336Ter) rs2132283619
NM_000314.8(PTEN):c.1008C>A (p.Tyr336Ter)
NM_000314.8(PTEN):c.1008C>G (p.Tyr336Ter) rs786201816
NM_000314.8(PTEN):c.1012dup (p.Ser338fs)
NM_000314.8(PTEN):c.1013del (p.Ser338fs) rs1860634226
NM_000314.8(PTEN):c.1026+1G>A rs786201041
NM_000314.8(PTEN):c.1026+1G>C rs786201041
NM_000314.8(PTEN):c.1026+1G>T rs786201041
NM_000314.8(PTEN):c.1026+2T>G rs1114167624
NM_000314.8(PTEN):c.1027-1G>A rs1057517809
NM_000314.8(PTEN):c.1027-2A>C rs1085308041
NM_000314.8(PTEN):c.1027-2A>G rs1085308041
NM_000314.8(PTEN):c.1032_1033insAC (p.Leu345fs) rs1860732201
NM_000314.8(PTEN):c.1034T>C (p.Leu345Pro) rs1554826024
NM_000314.8(PTEN):c.103A>G (p.Met35Val) rs876659443
NM_000314.8(PTEN):c.1048dup (p.Thr350fs) rs797045066
NM_000314.8(PTEN):c.104T>G (p.Met35Arg) rs121909225
NM_000314.8(PTEN):c.106G>T (p.Gly36Ter) rs786204854
NM_000314.8(PTEN):c.106_109del (p.Gly36fs) rs2132187310
NM_000314.8(PTEN):c.107G>A (p.Gly36Glu) rs1554893792
NM_000314.8(PTEN):c.1118_1122dup (p.Asp375fs)
NM_000314.8(PTEN):c.111del (p.Pro38fs)
NM_000314.8(PTEN):c.111dup (p.Pro38fs) rs1114167636
NM_000314.8(PTEN):c.113C>T (p.Pro38Leu) rs1064796886
NM_000314.8(PTEN):c.1212A>T (p.Ter404Cys) rs876660879
NM_000314.8(PTEN):c.127G>T (p.Glu43Ter) rs1554893808
NM_000314.8(PTEN):c.127dup (p.Glu43fs) rs1554893810
NM_000314.8(PTEN):c.131G>A (p.Gly44Asp) rs1085308042
NM_000314.8(PTEN):c.131dup (p.Val45fs) rs1564814541
NM_000314.8(PTEN):c.132dup (p.Val45fs) rs878853933
NM_000314.8(PTEN):c.138C>A (p.Tyr46Ter) rs1114167672
NM_000314.8(PTEN):c.139A>G (p.Arg47Gly) rs786204855
NM_000314.8(PTEN):c.13_14insC (p.Ile5fs) rs2132145444
NM_000314.8(PTEN):c.13del (p.Ile5fs)
NM_000314.8(PTEN):c.140G>A (p.Arg47Lys) rs1057518425
NM_000314.8(PTEN):c.141_142inv (p.Arg47_Asn48delinsSerHis)
NM_000314.8(PTEN):c.141_160dup (p.Val54delinsGlyThrIleLeuMetMetTer) rs2132187641
NM_000314.8(PTEN):c.143A>G (p.Asn48Ser) rs1859098783
NM_000314.8(PTEN):c.144C>A (p.Asn48Lys) rs762518389
NM_000314.8(PTEN):c.144C>G (p.Asn48Lys) rs762518389
NM_000314.8(PTEN):c.148_149dup (p.Asp51fs)
NM_000314.8(PTEN):c.149T>C (p.Ile50Thr) rs1554893824
NM_000314.8(PTEN):c.150del (p.Ile50fs) rs1859099242
NM_000314.8(PTEN):c.157del (p.Asp52_Val53insTer)
NM_000314.8(PTEN):c.158_162dup (p.Arg55Ter) rs2132187838
NM_000314.8(PTEN):c.164+1G>A rs1554893835
NM_000314.8(PTEN):c.164+1G>C rs1554893835
NM_000314.8(PTEN):c.164+1G>T rs1554893835
NM_000314.8(PTEN):c.164+1_164+5del rs1859100502
NM_000314.8(PTEN):c.164+2T>G rs1337554479
NM_000314.8(PTEN):c.165-1G>A rs786203847
NM_000314.8(PTEN):c.165-1G>C rs786203847
NM_000314.8(PTEN):c.165-2A>C
NM_000314.8(PTEN):c.165-2A>G rs1085308043
NM_000314.8(PTEN):c.16A>G (p.Lys6Glu) rs1589596143
NM_000314.8(PTEN):c.170T>A (p.Leu57Ter) rs786202398
NM_000314.8(PTEN):c.170del (p.Leu57fs)
NM_000314.8(PTEN):c.176C>A (p.Ser59Ter) rs1060500116
NM_000314.8(PTEN):c.176C>G (p.Ser59Ter) rs1060500116
NM_000314.8(PTEN):c.176del (p.Asp58_Ser59insTer) rs1859802811
NM_000314.8(PTEN):c.17_18del (p.Lys6fs) rs121913290
NM_000314.8(PTEN):c.17_20dup (p.Ile8fs) rs2132145483
NM_000314.8(PTEN):c.182A>G (p.His61Arg) rs398123316
NM_000314.8(PTEN):c.184A>T (p.Lys62Ter) rs1564826779
NM_000314.8(PTEN):c.188del (p.Asn63fs) rs1554897267
NM_000314.8(PTEN):c.188dup (p.Asn63fs)
NM_000314.8(PTEN):c.194_195insT (p.Lys66fs)
NM_000314.8(PTEN):c.194del (p.Tyr65fs) rs1859804141
NM_000314.8(PTEN):c.195C>A (p.Tyr65Ter) rs878853936
NM_000314.8(PTEN):c.195C>G (p.Tyr65Ter) rs878853936
NM_000314.8(PTEN):c.197dup (p.Ile67fs)
NM_000314.8(PTEN):c.1A>G (p.Met1Val) rs1554890324
NM_000314.8(PTEN):c.200dup (p.Tyr68fs) rs1060500113
NM_000314.8(PTEN):c.201dup (p.Tyr68fs) rs2132232362
NM_000314.8(PTEN):c.202T>C (p.Tyr68His) rs398123317
NM_000314.8(PTEN):c.203A>G (p.Tyr68Cys) rs876660634
NM_000314.8(PTEN):c.204C>A (p.Tyr68Ter) rs773176120
NM_000314.8(PTEN):c.204C>G (p.Tyr68Ter) rs773176120
NM_000314.8(PTEN):c.209+1G>A rs1554897280
NM_000314.8(PTEN):c.209+1G>C
NM_000314.8(PTEN):c.209+1G>T rs1554897280
NM_000314.8(PTEN):c.209+1_209+2del rs1564826836
NM_000314.8(PTEN):c.209+2T>A rs878853937
NM_000314.8(PTEN):c.209+2T>C rs878853937
NM_000314.8(PTEN):c.209+4A>C
NM_000314.8(PTEN):c.209+4A>G rs2132232446
NM_000314.8(PTEN):c.209+4_209+7del rs398123318
NM_000314.8(PTEN):c.209+5G>A rs1114167650
NM_000314.8(PTEN):c.209+6T>A
NM_000314.8(PTEN):c.209+6T>G rs1554897282
NM_000314.8(PTEN):c.210-1G>A rs1114167621
NM_000314.8(PTEN):c.210-2A>C rs1564828914
NM_000314.8(PTEN):c.210-2A>G rs1564828914
NM_000314.8(PTEN):c.210-2A>T
NM_000314.8(PTEN):c.210-2_211del rs1554897854
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.212G>A (p.Cys71Tyr) rs1554897856
NM_000314.8(PTEN):c.216_219dup (p.Arg74Ter)
NM_000314.8(PTEN):c.21_22del (p.Glu7fs) rs786204881
NM_000314.8(PTEN):c.21_37del (p.Ile8fs) rs786204882
NM_000314.8(PTEN):c.224_225del (p.His75fs) rs1859920352
NM_000314.8(PTEN):c.224_233del (p.His75fs) rs2132238787
NM_000314.8(PTEN):c.228dup (p.Asp77Ter) rs1589644721
NM_000314.8(PTEN):c.232_233del (p.Thr78fs)
NM_000314.8(PTEN):c.232del (p.Thr78fs)
NM_000314.8(PTEN):c.235_236del (p.Ala79fs) rs1859921286
NM_000314.8(PTEN):c.249C>A (p.Cys83Ter) rs1554897879
NM_000314.8(PTEN):c.250A>T (p.Arg84Ter) rs1554897880
NM_000314.8(PTEN):c.253+1G>A rs587776667
NM_000314.8(PTEN):c.253+1G>C rs587776667
NM_000314.8(PTEN):c.253+1G>T rs587776667
NM_000314.8(PTEN):c.253+2T>A rs1224040268
NM_000314.8(PTEN):c.253+5G>T rs1554897889
NM_000314.8(PTEN):c.255_262del (p.Ala86fs)
NM_000314.8(PTEN):c.259C>T (p.Gln87Ter) rs1554898053
NM_000314.8(PTEN):c.260_261dup (p.Tyr88fs) rs1114167637
NM_000314.8(PTEN):c.263_264del (p.Tyr88fs) rs1859964600
NM_000314.8(PTEN):c.264T>A (p.Tyr88Ter) rs1554898056
NM_000314.8(PTEN):c.270del (p.Phe90fs) rs1114167678
NM_000314.8(PTEN):c.275A>C (p.Asp92Ala) rs1114167623
NM_000314.8(PTEN):c.275A>G (p.Asp92Gly) rs1114167623
NM_000314.8(PTEN):c.277C>T (p.His93Tyr) rs786204927
NM_000314.8(PTEN):c.277_292del (p.Asp92_His93insTer) rs1554898071
NM_000314.8(PTEN):c.278A>G (p.His93Arg) rs121909238
NM_000314.8(PTEN):c.281del (p.Asn94fs)
NM_000314.8(PTEN):c.284C>T (p.Pro95Leu) rs786204856
NM_000314.8(PTEN):c.287C>A (p.Pro96Gln) rs1554898074
NM_000314.8(PTEN):c.287C>G (p.Pro96Arg) rs1554898074
NM_000314.8(PTEN):c.293T>G (p.Leu98Arg) rs781647403
NM_000314.8(PTEN):c.301del (p.Ile101fs) rs2132242363
NM_000314.8(PTEN):c.301dup (p.Ile101fs) rs1554898084
NM_000314.8(PTEN):c.302T>C (p.Ile101Thr) rs1339631701
NM_000314.8(PTEN):c.304A>T (p.Lys102Ter) rs786202944
NM_000314.8(PTEN):c.304_307dup (p.Pro103fs) rs2132242380
NM_000314.8(PTEN):c.313del (p.Cys105fs) rs1859969176
NM_000314.8(PTEN):c.314G>A (p.Cys105Tyr) rs587782343
NM_000314.8(PTEN):c.315dup (p.Glu106Ter) rs1554898091
NM_000314.8(PTEN):c.316G>T (p.Glu106Ter) rs1085308039
NM_000314.8(PTEN):c.319G>T (p.Asp107Tyr) rs57374291
NM_000314.8(PTEN):c.319del (p.Asp107fs)
NM_000314.8(PTEN):c.320A>T (p.Asp107Val) rs786204858
NM_000314.8(PTEN):c.323T>C (p.Leu108Pro) rs1064793243
NM_000314.8(PTEN):c.325_328delinsTT (p.Asp109fs)
NM_000314.8(PTEN):c.328C>T (p.Gln110Ter) rs1114167629
NM_000314.8(PTEN):c.331T>C (p.Trp111Arg) rs398123321
NM_000314.8(PTEN):c.332G>A (p.Trp111Ter)
NM_000314.8(PTEN):c.332_333insT (p.Trp111fs) rs1589646225
NM_000314.8(PTEN):c.338G>T (p.Ser113Ile) rs587781254
NM_000314.8(PTEN):c.338_391del (p.Ser113_Arg130del)
NM_000314.8(PTEN):c.346_358dup (p.Ala120fs) rs1064792910
NM_000314.8(PTEN):c.347_351del (p.Asp116fs) rs587776666
NM_000314.8(PTEN):c.348_349dup (p.Asn117fs)
NM_000314.8(PTEN):c.350_353del (p.Asn117fs) rs1564830070
NM_000314.8(PTEN):c.354del (p.His118fs)
NM_000314.8(PTEN):c.358dup (p.Ala120fs) rs1859973156
NM_000314.8(PTEN):c.359dup (p.Ala121fs) rs1589646309
NM_000314.8(PTEN):c.35A>C (p.Asn12Thr) rs1085308044
NM_000314.8(PTEN):c.35del (p.Asn12fs)
NM_000314.8(PTEN):c.35dup (p.Asn12fs)
NM_000314.8(PTEN):c.366_370dup (p.Cys124fs)
NM_000314.8(PTEN):c.367C>G (p.His123Asp) rs786204931
NM_000314.8(PTEN):c.367C>T (p.His123Tyr) rs786204931
NM_000314.8(PTEN):c.368A>G (p.His123Arg) rs121909222
NM_000314.8(PTEN):c.369C>G (p.His123Gln) rs1085308045
NM_000314.8(PTEN):c.370T>C (p.Cys124Arg) rs121909223
NM_000314.8(PTEN):c.370T>G (p.Cys124Gly) rs121909223
NM_000314.8(PTEN):c.370_445dup (p.Gln149delinsLeuTer)
NM_000314.8(PTEN):c.370del (p.Cys124fs) rs1554898123
NM_000314.8(PTEN):c.371G>A (p.Cys124Tyr) rs876660535
NM_000314.8(PTEN):c.373A>T (p.Lys125Ter)
NM_000314.8(PTEN):c.376G>C (p.Ala126Pro) rs1554898129
NM_000314.8(PTEN):c.377C>T (p.Ala126Val) rs1114167656
NM_000314.8(PTEN):c.379G>A (p.Gly127Arg) rs587781255
NM_000314.8(PTEN):c.37A>T (p.Lys13Ter) rs1554890348
NM_000314.8(PTEN):c.383A>G (p.Lys128Arg) rs1859975512
NM_000314.8(PTEN):c.385G>A (p.Gly129Arg) rs786204929
NM_000314.8(PTEN):c.385G>C (p.Gly129Arg) rs786204929
NM_000314.8(PTEN):c.385G>T (p.Gly129Ter)
NM_000314.8(PTEN):c.386G>A (p.Gly129Glu) rs121909218
NM_000314.8(PTEN):c.386G>T (p.Gly129Val) rs121909218
NM_000314.8(PTEN):c.386del (p.Gly129fs) rs1554898139
NM_000314.8(PTEN):c.388C>G (p.Arg130Gly) rs121909224
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.8(PTEN):c.389G>C (p.Arg130Pro) rs121909229
NM_000314.8(PTEN):c.389G>T (p.Arg130Leu) rs121909229
NM_000314.8(PTEN):c.389del (p.Arg130fs) rs121913292
NM_000314.8(PTEN):c.38_51del (p.Lys13fs) rs2132145679
NM_000314.8(PTEN):c.392C>T (p.Thr131Ile) rs397514560
NM_000314.8(PTEN):c.394G>A (p.Gly132Ser) rs1859977029
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000314.8(PTEN):c.395G>T (p.Gly132Val) rs121909241
NM_000314.8(PTEN):c.397G>A (p.Val133Ile) rs1859977307
NM_000314.8(PTEN):c.397delinsTA (p.Val133fs) rs1859977388
NM_000314.8(PTEN):c.399_403del (p.Ile135fs) rs1554898150
NM_000314.8(PTEN):c.39_40dup (p.Arg14fs) rs587776671
NM_000314.8(PTEN):c.39_41del (p.Arg15del) rs1114167625
NM_000314.8(PTEN):c.39_51del (p.Arg15fs) rs2132145655
NM_000314.8(PTEN):c.3G>A (p.Met1Ile) rs2132145343
NM_000314.8(PTEN):c.401T>C (p.Met134Thr) rs1085308046
NM_000314.8(PTEN):c.403A>G (p.Ile135Val) rs587782360
NM_000314.8(PTEN):c.404dup (p.Cys136fs)
NM_000314.8(PTEN):c.405del (p.Cys136fs)
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg) rs786201044
NM_000314.8(PTEN):c.407G>A (p.Cys136Tyr) rs786204859
NM_000314.8(PTEN):c.40A>G (p.Arg14Gly) rs1085308047
NM_000314.8(PTEN):c.40dup (p.Arg14fs) rs587776671
NM_000314.8(PTEN):c.414T>G (p.Tyr138Ter) rs1554898161
NM_000314.8(PTEN):c.416T>G (p.Leu139Ter) rs1085308048
NM_000314.8(PTEN):c.416del (p.Leu139fs) rs1554898163
NM_000314.8(PTEN):c.420dup (p.His141fs) rs1085308050
NM_000314.8(PTEN):c.422A>C (p.His141Pro) rs863224666
NM_000314.8(PTEN):c.424del (p.Arg142fs) rs869312779
NM_000314.8(PTEN):c.428del (p.Gly143fs) rs2132243612
NM_000314.8(PTEN):c.428dup (p.Lys144fs) rs2132243612
NM_000314.8(PTEN):c.430A>T (p.Lys144Ter) rs1057520622
NM_000314.8(PTEN):c.432del (p.Lys144fs) rs1114167657
NM_000314.8(PTEN):c.436_437del (p.Leu146fs)
NM_000314.8(PTEN):c.437T>G (p.Leu146Ter) rs786204933
NM_000314.8(PTEN):c.437_438insTTTTTTTTTTTTTTTNNNNNNNNNNGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACATCGGGGCAAATTTTT (p.Leu146delinsPhePhePhePhePheXaaXaaXaaXaaGlyTrpSerArgSerProAspLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer) rs2132243547
NM_000314.8(PTEN):c.437_438insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATCGGGGCAAATTTTT (p.Leu146delinsPhePhePhePhePhePhePheXaaXaaXaaXaaTer)
NM_000314.8(PTEN):c.437dup (p.Leu146fs)
NM_000314.8(PTEN):c.43A>T (p.Arg15Ter) rs2132145750
NM_000314.8(PTEN):c.440del (p.Lys147fs) rs2132243722
NM_000314.8(PTEN):c.445C>T (p.Gln149Ter) rs1060500122
NM_000314.8(PTEN):c.447del (p.Glu150fs) rs1554898188
NM_000314.8(PTEN):c.448G>T (p.Glu150Ter) rs786204934
NM_000314.8(PTEN):c.448_461del (p.Glu150fs)
NM_000314.8(PTEN):c.44G>A (p.Arg15Lys) rs398123324
NM_000314.8(PTEN):c.44G>C (p.Arg15Thr) rs398123324
NM_000314.8(PTEN):c.44_56del (p.Arg15fs)
NM_000314.8(PTEN):c.45A>C (p.Arg15Ser) rs1064794096
NM_000314.8(PTEN):c.45A>T (p.Arg15Ser) rs1064794096
NM_000314.8(PTEN):c.463del (p.Tyr155fs) rs2132243942
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.8(PTEN):c.465T>A (p.Tyr155Ter) rs1554898206
NM_000314.8(PTEN):c.465T>G (p.Tyr155Ter) rs1554898206
NM_000314.8(PTEN):c.468_469dup (p.Glu157fs)
NM_000314.8(PTEN):c.469G>T (p.Glu157Ter) rs121909220
NM_000314.8(PTEN):c.469del (p.Glu157fs) rs1554898210
NM_000314.8(PTEN):c.469dup (p.Glu157fs) rs1554898210
NM_000314.8(PTEN):c.470A>G (p.Glu157Gly) rs1085308051
NM_000314.8(PTEN):c.475A>G (p.Arg159Gly) rs786202688
NM_000314.8(PTEN):c.475A>T (p.Arg159Trp)
NM_000314.8(PTEN):c.475_479del (p.Arg159fs)
NM_000314.8(PTEN):c.481del (p.Arg161fs)
NM_000314.8(PTEN):c.485_487delinsCC (p.Asp162fs) rs1554898231
NM_000314.8(PTEN):c.486_487del (p.Asp162fs) rs1554898231
NM_000314.8(PTEN):c.487A>T (p.Lys163Ter) rs1554898235
NM_000314.8(PTEN):c.48T>A (p.Tyr16Ter) rs587782187
NM_000314.8(PTEN):c.48T>G (p.Tyr16Ter) rs587782187
NM_000314.8(PTEN):c.490_491del (p.Lys164fs) rs786204900
NM_000314.8(PTEN):c.491del (p.Lys164fs) rs786204900
NM_000314.8(PTEN):c.491dup (p.Val166fs)
NM_000314.8(PTEN):c.492+1G>C rs1554898242
NM_000314.8(PTEN):c.492+1G>T rs1554898242
NM_000314.8(PTEN):c.492+1del rs1564830522
NM_000314.8(PTEN):c.492+2T>G rs1554898244
NM_000314.8(PTEN):c.493-1G>A rs786204862
NM_000314.8(PTEN):c.493-2A>C rs587781784
NM_000314.8(PTEN):c.493-2A>G rs587781784
NM_000314.8(PTEN):c.493G>A (p.Gly165Arg) rs587782603
NM_000314.8(PTEN):c.493G>C (p.Gly165Arg) rs587782603
NM_000314.8(PTEN):c.493G>T (p.Gly165Ter) rs587782603
NM_000314.8(PTEN):c.499dup (p.Thr167fs)
NM_000314.8(PTEN):c.49C>T (p.Gln17Ter) rs786204910
NM_000314.8(PTEN):c.49_61dup (p.Phe21fs) rs2132145816
NM_000314.8(PTEN):c.502_503del (p.Ile168fs) rs2132268956
NM_000314.8(PTEN):c.505_506insAGTTACT (p.Pro169fs)
NM_000314.8(PTEN):c.507del (p.Ser170fs) rs587776673
NM_000314.8(PTEN):c.508A>C (p.Ser170Arg) rs1554900534
NM_000314.8(PTEN):c.509G>T (p.Ser170Ile) rs876660507
NM_000314.8(PTEN):c.50_51del (p.Gln17fs) rs587781912
NM_000314.8(PTEN):c.510T>A (p.Ser170Arg) rs121909221
NM_000314.8(PTEN):c.510T>G (p.Ser170Arg) rs121909221
NM_000314.8(PTEN):c.510_513del (p.Ser170fs)
NM_000314.8(PTEN):c.511C>T (p.Gln171Ter) rs786204864
NM_000314.8(PTEN):c.511dup (p.Gln171fs) rs2132269032
NM_000314.8(PTEN):c.512del (p.Gln171fs)
NM_000314.8(PTEN):c.512dup (p.Arg172fs) rs1114167632
NM_000314.8(PTEN):c.514_515del (p.Arg172fs) rs1564837778
NM_000314.8(PTEN):c.518G>C (p.Arg173Pro) rs121913294
NM_000314.8(PTEN):c.520dup (p.Tyr174fs) rs1085308052
NM_000314.8(PTEN):c.521A>G (p.Tyr174Cys) rs864622341
NM_000314.8(PTEN):c.522T>G (p.Tyr174Ter) rs786201867
NM_000314.8(PTEN):c.525del (p.Tyr176fs) rs1554900566
NM_000314.8(PTEN):c.528_535del (p.Tyr176_Ser179delinsTer)
NM_000314.8(PTEN):c.52G>T (p.Glu18Ter)
NM_000314.8(PTEN):c.532_535dup (p.Ser179delinsIleTer)
NM_000314.8(PTEN):c.534_535delinsAT (p.Tyr178_Ser179delinsTer) rs397515374
NM_000314.8(PTEN):c.536_539dup (p.Tyr180Ter) rs2132269250
NM_000314.8(PTEN):c.537_540delinsTTAAAGAATCATCTGGATTAGGGTTAAAACCCAGATTAGGGTTAAATCATCTGGATTAGGGTTAAT (p.Tyr180Ter)
NM_000314.8(PTEN):c.53del (p.Glu18fs) rs878853940
NM_000314.8(PTEN):c.540C>A (p.Tyr180Ter)
NM_000314.8(PTEN):c.540C>G (p.Tyr180Ter) rs786202733
NM_000314.8(PTEN):c.540_541delinsGT (p.Tyr180_Leu181delinsTer) rs1554900587
NM_000314.8(PTEN):c.542T>C (p.Leu181Pro) rs1589659492
NM_000314.8(PTEN):c.545T>A (p.Leu182Ter) rs794729664
NM_000314.8(PTEN):c.545T>G (p.Leu182Ter) rs794729664
NM_000314.8(PTEN):c.545dup (p.Leu182fs) rs878853941
NM_000314.8(PTEN):c.546_547insCA (p.Lys183fs) rs2132269329
NM_000314.8(PTEN):c.547_548del (p.Lys183fs) rs1554900593
NM_000314.8(PTEN):c.547_549delinsT (p.Leu182_Lys183insTer) rs786204890
NM_000314.8(PTEN):c.548_551del (p.Lys183fs) rs1564837868
NM_000314.8(PTEN):c.548dup (p.Asn184fs) rs1554900593
NM_000314.8(PTEN):c.551del (p.Asn184fs) rs1554900606
NM_000314.8(PTEN):c.561_567del (p.Tyr188fs) rs2132269476
NM_000314.8(PTEN):c.561_634+54del
NM_000314.8(PTEN):c.562_563insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCNAAAAAAAAAAAAAAAAAAAAAA (p.Tyr188fs) rs2132269496
NM_000314.8(PTEN):c.565A>T (p.Arg189Ter) rs1554900615
NM_000314.8(PTEN):c.56A>T (p.Asp19Val)
NM_000314.8(PTEN):c.571del (p.Val191fs)
NM_000314.8(PTEN):c.57dup (p.Gly20fs)
NM_000314.8(PTEN):c.581T>A (p.Leu194Ter)
NM_000314.8(PTEN):c.585dup (p.His196fs) rs786204901
NM_000314.8(PTEN):c.586dup (p.His196fs)
NM_000314.8(PTEN):c.590del (p.Lys197fs) rs2132269684
NM_000314.8(PTEN):c.597_599del (p.Met199_Phe200delinsIle) rs1564837980
NM_000314.8(PTEN):c.600del (p.Phe200fs)
NM_000314.8(PTEN):c.605C>T (p.Thr202Ile) rs1085308053
NM_000314.8(PTEN):c.605_614del (p.Thr202fs)
NM_000314.8(PTEN):c.607_608del (p.Ile203fs) rs1085308054
NM_000314.8(PTEN):c.60dup (p.Phe21fs) rs2132145926
NM_000314.8(PTEN):c.610C>G (p.Pro204Ala) rs786204868
NM_000314.8(PTEN):c.615_633delinsCA (p.Met205fs) rs1860425389
NM_000314.8(PTEN):c.617_621del (p.Phe206fs) rs1085308055
NM_000314.8(PTEN):c.623del (p.Gly208fs) rs2132269945
NM_000314.8(PTEN):c.625G>T (p.Gly209Ter) rs765433422
NM_000314.8(PTEN):c.626dup (p.Thr210fs)
NM_000314.8(PTEN):c.628del (p.Thr210fs) rs2132270005
NM_000314.8(PTEN):c.629del (p.Thr210fs) rs1060500114
NM_000314.8(PTEN):c.631dup (p.Cys211fs)
NM_000314.8(PTEN):c.632dup (p.Cys211fs) rs1114167663
NM_000314.8(PTEN):c.633C>A (p.Cys211Ter) rs121909232
NM_000314.8(PTEN):c.633C>G (p.Cys211Trp) rs121909232
NM_000314.8(PTEN):c.634+1G>A rs1114167622
NM_000314.8(PTEN):c.634+1G>C rs1114167622
NM_000314.8(PTEN):c.634+1G>T rs1114167622
NM_000314.8(PTEN):c.634+2T>A rs727504114
NM_000314.8(PTEN):c.634+2T>C rs727504114
NM_000314.8(PTEN):c.634+2T>G rs727504114
NM_000314.8(PTEN):c.634+5G>A rs138336847
NM_000314.8(PTEN):c.634+5G>C rs138336847
NM_000314.8(PTEN):c.635-1G>A rs876661024
NM_000314.8(PTEN):c.635-1G>C rs876661024
NM_000314.8(PTEN):c.635-1G>T rs876661024
NM_000314.8(PTEN):c.635-2A>C rs1564566706
NM_000314.8(PTEN):c.635-2A>G rs1564566706
NM_000314.8(PTEN):c.635-3C>G rs1085308056
NM_000314.8(PTEN):c.640C>T (p.Gln214Ter) rs121909227
NM_000314.8(PTEN):c.641del (p.Gln214fs) rs2132276430
NM_000314.8(PTEN):c.641dup (p.Phe215fs) rs2132276426
NM_000314.8(PTEN):c.644_650del (p.Phe215fs) rs2132276439
NM_000314.8(PTEN):c.645del (p.Phe215fs) rs1589663146
NM_000314.8(PTEN):c.645dup (p.Val216fs) rs1589663146
NM_000314.8(PTEN):c.64dup (p.Asp22fs) rs1858399718
NM_000314.8(PTEN):c.654C>A (p.Cys218Ter) rs1554825165
NM_000314.8(PTEN):c.655C>T (p.Gln219Ter)
NM_000314.8(PTEN):c.658_659dup (p.Leu220_Lys221insTer) rs2132276566
NM_000314.8(PTEN):c.658del (p.Gln219_Leu220insTer)
NM_000314.8(PTEN):c.659_660dup (p.Lys221Ter) rs2132276578
NM_000314.8(PTEN):c.659_665del (p.Leu220fs)
NM_000314.8(PTEN):c.667A>T (p.Lys223Ter) rs1085308049
NM_000314.8(PTEN):c.672_673insC (p.Tyr225fs) rs2132276692
NM_000314.8(PTEN):c.672dup (p.Tyr225fs) rs2132276683
NM_000314.8(PTEN):c.674_675dup (p.Ser226fs) rs2132276661
NM_000314.8(PTEN):c.675T>G (p.Tyr225Ter) rs1057520900
NM_000314.8(PTEN):c.679_680insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGCGCGGGGGGGGGGGGGGGTGGGGTGGGGGGGTGGGGGGGGGGGGGGGGGGGGCGGGGGTGAGGGAGAGGGAGAGGGAGAGGGAGAGCAGATATATTCCT (p.Ser227fs)
NM_000314.8(PTEN):c.685_686dup (p.Gly230fs) rs1564566801
NM_000314.8(PTEN):c.685_688del (p.Ser229fs) rs2132276818
NM_000314.8(PTEN):c.685del (p.Ser229fs)
NM_000314.8(PTEN):c.686C>G (p.Ser229Ter) rs1214965807
NM_000314.8(PTEN):c.688G>T (p.Gly230Ter)
NM_000314.8(PTEN):c.688_689dup (p.Pro231fs) rs2132276853
NM_000314.8(PTEN):c.68T>G (p.Leu23Ter) rs1589596407
NM_000314.8(PTEN):c.68del (p.Asp22_Leu23insTer) rs1554890400
NM_000314.8(PTEN):c.693del (p.Thr232fs) rs1554825189
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.8(PTEN):c.697dup (p.Arg233fs)
NM_000314.8(PTEN):c.69dup (p.Asp24fs) rs1589596415
NM_000314.8(PTEN):c.702_703delinsC (p.Glu235fs) rs1131691831
NM_000314.8(PTEN):c.702_706del (p.Glu235fs)
NM_000314.8(PTEN):c.711del (p.Lys237fs) rs1860544511
NM_000314.8(PTEN):c.717_721del (p.Met239fs)
NM_000314.8(PTEN):c.71A>G (p.Asp24Gly) rs797044910
NM_000314.8(PTEN):c.720C>G (p.Tyr240Ter) rs190070312
NM_000314.8(PTEN):c.720_721insCA (p.Phe241fs) rs1554825206
NM_000314.8(PTEN):c.721_730del (p.Phe241fs) rs2132277143
NM_000314.8(PTEN):c.722_723del (p.Tyr240_Phe241insTer)
NM_000314.8(PTEN):c.722_723dup (p.Glu242fs) rs1060500115
NM_000314.8(PTEN):c.722_723insGG (p.Phe241fs) rs2132277178
NM_000314.8(PTEN):c.723_724dup (p.Glu242fs) rs1554825209
NM_000314.8(PTEN):c.723del (p.Phe241fs) rs1060500115
NM_000314.8(PTEN):c.723dup (p.Glu242Ter) rs1060500115
NM_000314.8(PTEN):c.729_740del (p.Phe243_Pro246del)
NM_000314.8(PTEN):c.731del (p.Pro244fs)
NM_000314.8(PTEN):c.733C>T (p.Gln245Ter) rs786202918
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000314.8(PTEN):c.738_739dup (p.Leu247fs) rs1589663442
NM_000314.8(PTEN):c.740T>A (p.Leu247Ter) rs1057519368
NM_000314.8(PTEN):c.740del (p.Leu247fs) rs1114167662
NM_000314.8(PTEN):c.741dup (p.Pro248fs) rs587782341
NM_000314.8(PTEN):c.743del (p.Pro248fs)
NM_000314.8(PTEN):c.748_749insCCAC (p.Cys250fs)
NM_000314.8(PTEN):c.748dup (p.Cys250fs)
NM_000314.8(PTEN):c.750T>A (p.Cys250Ter) rs767623493
NM_000314.8(PTEN):c.750_751del (p.Cys250fs) rs780264945
NM_000314.8(PTEN):c.752del (p.Gly251fs)
NM_000314.8(PTEN):c.755A>G (p.Asp252Gly) rs121909239
NM_000314.8(PTEN):c.755A>T (p.Asp252Val) rs121909239
NM_000314.8(PTEN):c.757_758dup (p.Lys254fs) rs878853942
NM_000314.8(PTEN):c.758_761del (p.Ile253fs) rs786204903
NM_000314.8(PTEN):c.758_780dup (p.Gln261delinsSerLysTer)
NM_000314.8(PTEN):c.75G>C (p.Leu25Phe) rs786201506
NM_000314.8(PTEN):c.766G>T (p.Glu256Ter) rs121909228
NM_000314.8(PTEN):c.76A>C (p.Thr26Pro) rs876661010
NM_000314.8(PTEN):c.780del (p.Lys260fs)
NM_000314.8(PTEN):c.781C>T (p.Gln261Ter) rs730882131
NM_000314.8(PTEN):c.783del (p.Asn262fs) rs1860551073
NM_000314.8(PTEN):c.785dup (p.Asn262fs) rs2132277715
NM_000314.8(PTEN):c.786_787del (p.Asn262fs)
NM_000314.8(PTEN):c.796A>T (p.Lys266Ter) rs1554825260
NM_000314.8(PTEN):c.798_799inv (p.Lys266_Lys267delinsAsnTer)
NM_000314.8(PTEN):c.799_800insTT (p.Lys267fs) rs1860552294
NM_000314.8(PTEN):c.79dup (p.Tyr27fs)
NM_000314.8(PTEN):c.80-1_80del rs1554893747
NM_000314.8(PTEN):c.800del (p.Lys267fs) rs121913289
NM_000314.8(PTEN):c.800dup (p.Asp268fs)
NM_000314.8(PTEN):c.801+1G>A rs786204873
NM_000314.8(PTEN):c.801+1G>C rs786204873
NM_000314.8(PTEN):c.801+1G>T rs786204873
NM_000314.8(PTEN):c.801+1del rs1060500110
NM_000314.8(PTEN):c.801+2T>A rs1114167665
NM_000314.8(PTEN):c.801+2T>C rs1114167665
NM_000314.8(PTEN):c.801G>C (p.Lys267Asn) rs1554825266
NM_000314.8(PTEN):c.802-131_935del rs1860608927
NM_000314.8(PTEN):c.802-1G>A rs1257124719
NM_000314.8(PTEN):c.802-1G>C
NM_000314.8(PTEN):c.802-1G>T rs1257124719
NM_000314.8(PTEN):c.802-2A>G rs587782455
NM_000314.8(PTEN):c.808_809insACAA (p.Met270fs)
NM_000314.8(PTEN):c.80A>C (p.Tyr27Ser) rs886041877
NM_000314.8(PTEN):c.812_833delinsCTTTTCTTTTTTTTTTTTTTTTAGGACAAAATGTTTCA (p.Phe271fs)
NM_000314.8(PTEN):c.821G>A (p.Trp274Ter) rs786204875
NM_000314.8(PTEN):c.821G>T (p.Trp274Leu) rs786204875
NM_000314.8(PTEN):c.822G>A (p.Trp274Ter) rs587782607
NM_000314.8(PTEN):c.822_823del (p.Trp274fs)
NM_000314.8(PTEN):c.823_824del (p.Val275fs) rs1589665610
NM_000314.8(PTEN):c.823_824dup (p.Val275_Asn276insTer)
NM_000314.8(PTEN):c.823del (p.Trp274_Val275insTer) rs1860617439
NM_000314.8(PTEN):c.827del (p.Asn276fs) rs886044679
NM_000314.8(PTEN):c.829A>G (p.Thr277Ala) rs1564568216
NM_000314.8(PTEN):c.829dup (p.Thr277fs) rs1589665640
NM_000314.8(PTEN):c.830C>G (p.Thr277Arg) rs398123329
NM_000314.8(PTEN):c.830C>T (p.Thr277Ile) rs398123329
NM_000314.8(PTEN):c.840_841del (p.Pro281fs) rs1589665670
NM_000314.8(PTEN):c.845_846insT (p.Pro283fs)
NM_000314.8(PTEN):c.845del (p.Gly282fs) rs864622451
NM_000314.8(PTEN):c.849_852dup (p.Glu285fs)
NM_000314.8(PTEN):c.853G>T (p.Glu285Ter)
NM_000314.8(PTEN):c.855_856del (p.Glu285fs) rs1860620392
NM_000314.8(PTEN):c.860C>A (p.Ser287Ter) rs863224909
NM_000314.8(PTEN):c.860C>G (p.Ser287Ter) rs863224909
NM_000314.8(PTEN):c.863_865delinsCT (p.Glu288fs) rs1589665750
NM_000314.8(PTEN):c.865_866insCT (p.Lys289fs) rs1554825530
NM_000314.8(PTEN):c.865_866insTTCT (p.Lys289fs) rs1554825530
NM_000314.8(PTEN):c.867dup (p.Val290fs)
NM_000314.8(PTEN):c.873_880dup (p.Ser294fs)
NM_000314.8(PTEN):c.875del (p.Asn292fs) rs786204905
NM_000314.8(PTEN):c.875dup (p.Asn292fs) rs786204905
NM_000314.8(PTEN):c.877G>T (p.Gly293Ter) rs878853944
NM_000314.8(PTEN):c.87T>A (p.Tyr29Ter) rs1554893756
NM_000314.8(PTEN):c.881_885del (p.Ser294fs)
NM_000314.8(PTEN):c.884dup (p.Cys296fs) rs587780006
NM_000314.8(PTEN):c.885_888del (p.Cys296fs) rs1114167675
NM_000314.8(PTEN):c.892C>T (p.Gln298Ter) rs371387815
NM_000314.8(PTEN):c.895G>T (p.Glu299Ter) rs1114167674
NM_000314.8(PTEN):c.900del (p.Ile300fs) rs797045904
NM_000314.8(PTEN):c.901dup (p.Asp301fs) rs1646757490
NM_000314.8(PTEN):c.913del (p.Ser305fs) rs1860625404
NM_000314.8(PTEN):c.915del (p.Ser305fs) rs1589665953
NM_000314.8(PTEN):c.917_920dup (p.Glu307fs) rs2132282693
NM_000314.8(PTEN):c.920_921del (p.Glu307fs) rs2132282720
NM_000314.8(PTEN):c.920_921dup (p.Arg308fs)
NM_000314.8(PTEN):c.922dup (p.Arg308fs)
NM_000314.8(PTEN):c.928_929insTT (p.Asp310fs) rs786204906
NM_000314.8(PTEN):c.929del (p.Asp310fs) rs1589665989
NM_000314.8(PTEN):c.92del (p.Asn31fs) rs1564814427
NM_000314.8(PTEN):c.942del (p.Glu314fs)
NM_000314.8(PTEN):c.945T>A (p.Tyr315Ter) rs876661058
NM_000314.8(PTEN):c.945T>G (p.Tyr315Ter) rs876661058
NM_000314.8(PTEN):c.949del (p.Val317fs) rs876658837
NM_000314.8(PTEN):c.94ATT[1] (p.Ile33del) rs1554893765
NM_000314.8(PTEN):c.94del (p.Ile32fs)
NM_000314.8(PTEN):c.955_956insTCTGACAAGGAATATCTAGTACTTA (p.Thr319delinsIleTer) rs1589665998
NM_000314.8(PTEN):c.955_958del (p.Leu318_Thr319insTer) rs146650273
NM_000314.8(PTEN):c.955dup (p.Thr319fs) rs786204892
NM_000314.8(PTEN):c.956_959del (p.Thr319fs) rs398123330
NM_000314.8(PTEN):c.956_960del (p.Thr319fs) rs1589666094
NM_000314.8(PTEN):c.958_959del (p.Leu320fs) rs1114167682
NM_000314.8(PTEN):c.958_959insG (p.Leu320fs)
NM_000314.8(PTEN):c.959T>A (p.Leu320Ter) rs1114167667
NM_000314.8(PTEN):c.959T>G (p.Leu320Ter) rs1114167667
NM_000314.8(PTEN):c.959_962del (p.Thr319_Leu320insTer)
NM_000314.8(PTEN):c.959del (p.Thr319_Leu320insTer) rs1114167682
NM_000314.8(PTEN):c.964A>T (p.Lys322Ter) rs786202004
NM_000314.8(PTEN):c.968del (p.Asn323fs) rs121913291
NM_000314.8(PTEN):c.968dup (p.Asn323fs) rs121913291
NM_000314.8(PTEN):c.972del (p.Asp326fs) rs1860630701
NM_000314.8(PTEN):c.973del (p.Asp326fs) rs1554825602
NM_000314.8(PTEN):c.974_975insC (p.Leu325_Asp326insTer)
NM_000314.8(PTEN):c.976G>A (p.Asp326Asn)
NM_000314.8(PTEN):c.980_981del (p.Lys327fs)
NM_000314.8(PTEN):c.982del (p.Ala328fs)
NM_000314.8(PTEN):c.987_990del (p.Asn329fs) rs587782304
NM_000314.8(PTEN):c.987_996dup (p.Ala333Ter) rs864622387
NM_000314.8(PTEN):c.989_990del (p.Lys330fs) rs1249338494
NM_000314.8(PTEN):c.989_992del (p.Lys330fs) rs2132283419
NM_000314.8(PTEN):c.991_992del (p.Asp331fs) rs1554825611
NM_000314.8(PTEN):c.996dup (p.Ala333fs) rs1554825615
NM_001304718.2(PTEN):c.-541-5533del rs2132232095
Single allele

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