ClinVar Miner

List of variants reported as pathogenic for PTEN hamartoma tumor syndrome

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 275
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 10q23.31(chr10:89653441-89654197)
KLLN, PROMOTER HYPERMETHYLATION
NC_000010.10:g.(?_88635625)_(89653886_?)del
NC_000010.10:g.(?_89622928)_(89624315_?)del
NC_000010.10:g.(?_89622928)_(89712026_?)del
NC_000010.10:g.(?_89653772)_(89653876_?)del
NC_000010.10:g.(?_89653772)_(89725239_?)del
NC_000010.10:g.(?_89653782)_(89653866_?)del
NC_000010.10:g.(?_89690783)_(89717796_?)del
NC_000010.10:g.(?_89690793)_(89690856_?)del
NC_000010.10:g.(?_89690797)_(89693014_?)del
NC_000010.10:g.(?_89711869)_(89712022_?)del
NC_000010.10:g.89589557_89642550dup
NC_000010.11:g.87957941del
NC_000011.9:g.(?_111957622)_(111965704_?)del
NC_000011.9:g.(?_111959581)_(111965704_?)del
NC_000011.9:g.(?_111965519)_(111965704_?)del
NC_000011.9:g.(?_111965523)_(111965700_?)del
NC_000020.10:g.(?_18492869)_(18496380_?)del
NM_000314.6(PTEN):c.80-?_492+?del
NM_000314.6(PTEN):c.802delG (p.Asp268Thrfs) rs587776672
NM_000314.7(PTEN):c.-764G>A rs587776674
NM_000314.7(PTEN):c.-861G>T rs587776675
NM_000314.7(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.7(PTEN):c.1004G>A (p.Arg335Gln) rs1085308040
NM_000314.7(PTEN):c.1006dup (p.Tyr336fs) rs1554825631
NM_000314.7(PTEN):c.1008C>G (p.Tyr336Ter) rs786201816
NM_000314.7(PTEN):c.1016del (p.Pro339fs) rs1554825643
NM_000314.7(PTEN):c.1026+1G>A rs786201041
NM_000314.7(PTEN):c.1026+1G>C rs786201041
NM_000314.7(PTEN):c.1027-1G>A rs1057517809
NM_000314.7(PTEN):c.1027-2A>C rs1085308041
NM_000314.7(PTEN):c.1027-2A>G rs1085308041
NM_000314.7(PTEN):c.104T>G (p.Met35Arg) rs121909225
NM_000314.7(PTEN):c.118G>T (p.Glu40Ter) rs869312778
NM_000314.7(PTEN):c.127G>T (p.Glu43Ter) rs1554893808
NM_000314.7(PTEN):c.131G>A (p.Gly44Asp) rs1085308042
NM_000314.7(PTEN):c.131dup (p.Val45fs) rs1564814541
NM_000314.7(PTEN):c.132dup (p.Val45fs) rs878853933
NM_000314.7(PTEN):c.144C>A (p.Asn48Lys)
NM_000314.7(PTEN):c.164+1G>C rs1554893835
NM_000314.7(PTEN):c.165-1G>C rs786203847
NM_000314.7(PTEN):c.165-2A>G rs1085308043
NM_000314.7(PTEN):c.170T>A (p.Leu57Ter)
NM_000314.7(PTEN):c.176C>G (p.Ser59Ter) rs1060500116
NM_000314.7(PTEN):c.182A>G (p.His61Arg) rs398123316
NM_000314.7(PTEN):c.188del (p.Asn63fs) rs1554897267
NM_000314.7(PTEN):c.195C>G (p.Tyr65Ter) rs878853936
NM_000314.7(PTEN):c.200dup (p.Tyr68fs) rs1060500113
NM_000314.7(PTEN):c.202T>C (p.Tyr68His) rs398123317
NM_000314.7(PTEN):c.203A>G (p.Tyr68Cys) rs876660634
NM_000314.7(PTEN):c.204C>G (p.Tyr68Ter) rs773176120
NM_000314.7(PTEN):c.209+1G>T rs1554897280
NM_000314.7(PTEN):c.209+4_209+7del rs398123318
NM_000314.7(PTEN):c.209+5G>A rs1114167650
NM_000314.7(PTEN):c.209T>C (p.Leu70Pro) rs121909226
NM_000314.7(PTEN):c.210-1G>A rs1114167621
NM_000314.7(PTEN):c.228dup (p.Asp77Ter)
NM_000314.7(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000314.7(PTEN):c.253+1G>A rs587776667
NM_000314.7(PTEN):c.253+1G>C rs587776667
NM_000314.7(PTEN):c.253+1G>T rs587776667
NM_000314.7(PTEN):c.253+2T>A rs1224040268
NM_000314.7(PTEN):c.253+5G>A rs1554897889
NM_000314.7(PTEN):c.253+5G>T rs1554897889
NM_000314.7(PTEN):c.259C>T (p.Gln87Ter) rs1554898053
NM_000314.7(PTEN):c.277_292del (p.Asp92_His93insTer) rs1554898071
NM_000314.7(PTEN):c.278A>G (p.His93Arg) rs121909238
NM_000314.7(PTEN):c.284C>T (p.Pro95Leu) rs786204856
NM_000314.7(PTEN):c.289C>T (p.Gln97Ter) rs786204928
NM_000314.7(PTEN):c.315dup (p.Glu106Ter) rs1554898091
NM_000314.7(PTEN):c.316G>T (p.Glu106Ter) rs1085308039
NM_000314.7(PTEN):c.320A>T (p.Asp107Val) rs786204858
NM_000314.7(PTEN):c.323T>C (p.Leu108Pro) rs1064793243
NM_000314.7(PTEN):c.328C>T (p.Gln110Ter) rs1114167629
NM_000314.7(PTEN):c.332_333insT (p.Trp111fs)
NM_000314.7(PTEN):c.335T>C (p.Leu112Pro) rs121909230
NM_000314.7(PTEN):c.338G>T (p.Ser113Ile) rs587781254
NM_000314.7(PTEN):c.346_358dup (p.Ala120fs) rs1064792910
NM_000314.7(PTEN):c.347_351del (p.Asp116fs) rs587776666
NM_000314.7(PTEN):c.350_353del (p.Asn117fs) rs1564830070
NM_000314.7(PTEN):c.359dup (p.Ala121fs)
NM_000314.7(PTEN):c.35A>C (p.Asn12Thr) rs1085308044
NM_000314.7(PTEN):c.368A>G (p.His123Arg) rs121909222
NM_000314.7(PTEN):c.369C>G (p.His123Gln) rs1085308045
NM_000314.7(PTEN):c.370T>C (p.Cys124Arg) rs121909223
NM_000314.7(PTEN):c.379G>A (p.Gly127Arg) rs587781255
NM_000314.7(PTEN):c.37A>T (p.Lys13Ter) rs1554890348
NM_000314.7(PTEN):c.386G>A (p.Gly129Glu) rs121909218
NM_000314.7(PTEN):c.386del (p.Gly129fs) rs1554898139
NM_000314.7(PTEN):c.388C>G (p.Arg130Gly) rs121909224
NM_000314.7(PTEN):c.388C>T (p.Arg130Ter) rs121909224
NM_000314.7(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.7(PTEN):c.389del (p.Arg130fs) rs121913292
NM_000314.7(PTEN):c.392C>T (p.Thr131Ile) rs397514560
NM_000314.7(PTEN):c.395G>T (p.Gly132Val) rs121909241
NM_000314.7(PTEN):c.399_403del (p.Ile135fs) rs1554898150
NM_000314.7(PTEN):c.401T>C (p.Met134Thr) rs1085308046
NM_000314.7(PTEN):c.403A>G (p.Ile135Val) rs587782360
NM_000314.7(PTEN):c.406T>C (p.Cys136Arg) rs786201044
NM_000314.7(PTEN):c.407G>A (p.Cys136Tyr) rs786204859
NM_000314.7(PTEN):c.40A>G (p.Arg14Gly) rs1085308047
NM_000314.7(PTEN):c.40dup (p.Arg14fs) rs587776671
NM_000314.7(PTEN):c.414T>G (p.Tyr138Ter) rs1554898161
NM_000314.7(PTEN):c.416T>G (p.Leu139Ter) rs1085308048
NM_000314.7(PTEN):c.416del (p.Leu139fs) rs1554898163
NM_000314.7(PTEN):c.420dup (p.His141fs) rs1085308050
NM_000314.7(PTEN):c.422A>C (p.His141Pro) rs863224666
NM_000314.7(PTEN):c.424del (p.Arg142fs) rs869312779
NM_000314.7(PTEN):c.437T>G (p.Leu146Ter) rs786204933
NM_000314.7(PTEN):c.445C>T (p.Gln149Ter) rs1060500122
NM_000314.7(PTEN):c.447del (p.Glu150fs) rs1554898188
NM_000314.7(PTEN):c.465T>A (p.Tyr155Ter) rs1554898206
NM_000314.7(PTEN):c.469G>T (p.Glu157Ter) rs121909220
NM_000314.7(PTEN):c.469dup (p.Glu157fs)
NM_000314.7(PTEN):c.470A>G (p.Glu157Gly) rs1085308051
NM_000314.7(PTEN):c.485_487delinsCC (p.Asp162fs) rs1554898231
NM_000314.7(PTEN):c.486_487del (p.Asp162fs) rs1554898231
NM_000314.7(PTEN):c.48T>A (p.Tyr16Ter) rs587782187
NM_000314.7(PTEN):c.48T>G (p.Tyr16Ter) rs587782187
NM_000314.7(PTEN):c.490_491del (p.Lys164fs) rs786204900
NM_000314.7(PTEN):c.492+1G>T rs1554898242
NM_000314.7(PTEN):c.492+2T>G rs1554898244
NM_000314.7(PTEN):c.493-2A>G rs587781784
NM_000314.7(PTEN):c.49C>T (p.Gln17Ter) rs786204910
NM_000314.7(PTEN):c.508A>C (p.Ser170Arg) rs1554900534
NM_000314.7(PTEN):c.510T>A (p.Ser170Arg) rs121909221
NM_000314.7(PTEN):c.511C>T (p.Gln171Ter) rs786204864
NM_000314.7(PTEN):c.512_513AG[1] (p.Arg172fs) rs1564837778
NM_000314.7(PTEN):c.517C>T (p.Arg173Cys) rs121913293
NM_000314.7(PTEN):c.518G>A (p.Arg173His) rs121913294
NM_000314.7(PTEN):c.520dup (p.Tyr174fs) rs1085308052
NM_000314.7(PTEN):c.525del (p.Tyr176fs) rs1554900566
NM_000314.7(PTEN):c.534_535delinsAT (p.Tyr178_Ser179delinsTer) rs397515374
NM_000314.7(PTEN):c.53del (p.Glu18fs) rs878853940
NM_000314.7(PTEN):c.540_541delinsGT (p.Tyr180_Leu181delinsTer) rs1554900587
NM_000314.7(PTEN):c.545dup (p.Leu182fs) rs878853941
NM_000314.7(PTEN):c.548_551del (p.Lys183fs) rs1564837868
NM_000314.7(PTEN):c.586del (p.His196fs) rs587776670
NM_000314.7(PTEN):c.605C>T (p.Thr202Ile) rs1085308053
NM_000314.7(PTEN):c.607_608del (p.Ile203fs) rs1085308054
NM_000314.7(PTEN):c.617_621del (p.Phe206fs) rs1085308055
NM_000314.7(PTEN):c.625G>T (p.Gly209Ter) rs765433422
NM_000314.7(PTEN):c.629del (p.Thr210fs) rs1060500114
NM_000314.7(PTEN):c.633C>A (p.Cys211Ter) rs121909232
NM_000314.7(PTEN):c.634+1G>C rs1114167622
NM_000314.7(PTEN):c.634+2T>C rs727504114
NM_000314.7(PTEN):c.634+4A>T rs1554900675
NM_000314.7(PTEN):c.634+5G>A rs138336847
NM_000314.7(PTEN):c.634+5G>C rs138336847
NM_000314.7(PTEN):c.635-1G>A rs876661024
NM_000314.7(PTEN):c.635-1G>C rs876661024
NM_000314.7(PTEN):c.635-2A>G rs1564566706
NM_000314.7(PTEN):c.635-3C>G rs1085308056
NM_000314.7(PTEN):c.640C>T (p.Gln214Ter) rs121909227
NM_000314.7(PTEN):c.645dup (p.Val216fs)
NM_000314.7(PTEN):c.654C>A (p.Cys218Ter) rs1554825165
NM_000314.7(PTEN):c.667A>T (p.Lys223Ter) rs1085308049
NM_000314.7(PTEN):c.675T>G (p.Tyr225Ter) rs1057520900
NM_000314.7(PTEN):c.685_686dup (p.Gly230fs) rs1564566801
NM_000314.7(PTEN):c.68del (p.Asp22_Leu23insTer) rs1554890400
NM_000314.7(PTEN):c.693del (p.Thr232fs) rs1554825189
NM_000314.7(PTEN):c.696del (p.Arg233fs) rs587776669
NM_000314.7(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.7(PTEN):c.69dup (p.Asp24fs)
NM_000314.7(PTEN):c.71A>G (p.Asp24Gly) rs797044910
NM_000314.7(PTEN):c.720C>G (p.Tyr240Ter)
NM_000314.7(PTEN):c.720_721insCA (p.Phe241fs) rs1554825206
NM_000314.7(PTEN):c.723_724dup (p.Glu242fs) rs1554825209
NM_000314.7(PTEN):c.723dup (p.Glu242Ter) rs1060500115
NM_000314.7(PTEN):c.733C>T (p.Gln245Ter) rs786202918
NM_000314.7(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000314.7(PTEN):c.738_739dup (p.Leu247fs)
NM_000314.7(PTEN):c.740T>A (p.Leu247Ter)
NM_000314.7(PTEN):c.741dup (p.Pro248fs) rs587782341
NM_000314.7(PTEN):c.744_745TG[3] (p.Cys250fs) rs780264945
NM_000314.7(PTEN):c.755_756AT[3] (p.Lys254fs) rs878853942
NM_000314.7(PTEN):c.758_761del (p.Ile253fs) rs786204903
NM_000314.7(PTEN):c.765_766AG[1] (p.Glu256fs) rs869312780
NM_000314.7(PTEN):c.766G>T (p.Glu256Ter) rs121909228
NM_000314.7(PTEN):c.781C>T (p.Gln261Ter) rs730882131
NM_000314.7(PTEN):c.79+7A>G rs374331677
NM_000314.7(PTEN):c.796A>T (p.Lys266Ter)
NM_000314.7(PTEN):c.800del (p.Lys267fs) rs121913289
NM_000314.7(PTEN):c.802-2A>G rs587782455
NM_000314.7(PTEN):c.802-2A>T rs587782455
NM_000314.7(PTEN):c.821G>T (p.Trp274Leu) rs786204875
NM_000314.7(PTEN):c.822G>A (p.Trp274Ter) rs587782607
NM_000314.7(PTEN):c.823_824del (p.Val275fs)
NM_000314.7(PTEN):c.827del (p.Asn276fs) rs886044679
NM_000314.7(PTEN):c.829dup (p.Thr277fs)
NM_000314.7(PTEN):c.840_841del (p.Pro281fs)
NM_000314.7(PTEN):c.845del (p.Gly282fs) rs864622451
NM_000314.7(PTEN):c.860C>G (p.Ser287Ter) rs863224909
NM_000314.7(PTEN):c.863_865delinsCT (p.Glu288fs)
NM_000314.7(PTEN):c.865_866insCT (p.Lys289fs) rs1554825530
NM_000314.7(PTEN):c.877G>T (p.Gly293Ter) rs878853944
NM_000314.7(PTEN):c.87T>A (p.Tyr29Ter) rs1554893756
NM_000314.7(PTEN):c.892C>T (p.Gln298Ter) rs371387815
NM_000314.7(PTEN):c.900del (p.Ile300fs) rs797045904
NM_000314.7(PTEN):c.928_929insTT (p.Asp310fs) rs786204906
NM_000314.7(PTEN):c.92del (p.Asn31fs) rs1564814427
NM_000314.7(PTEN):c.945T>G (p.Tyr315Ter) rs876661058
NM_000314.7(PTEN):c.951_954ACTT[1] (p.Leu318_Thr319insTer) rs146650273
NM_000314.7(PTEN):c.955dup (p.Thr319fs) rs786204892
NM_000314.7(PTEN):c.956_959del (p.Thr319fs) rs398123330
NM_000314.7(PTEN):c.956_960del (p.Thr319fs)
NM_000314.7(PTEN):c.959T>A (p.Leu320Ter)
NM_000314.7(PTEN):c.959del (p.Thr319_Leu320insTer) rs1114167682
NM_000314.7(PTEN):c.968del (p.Asn323fs)
NM_000314.7(PTEN):c.968dup (p.Asn323fs) rs121913291
NM_000314.7(PTEN):c.987_990del (p.Asn329fs) rs587782304
NM_000314.7(PTEN):c.987_996dup (p.Ala333Ter) rs864622387
NM_000314.7(PTEN):c.991_992del (p.Asp331fs) rs1554825611
NM_000314.7(PTEN):c.996dup (p.Ala333fs) rs1554825615
NM_001304717.5(PTEN):c.1012+1del rs1564830522
NM_001304717.5(PTEN):c.1321+1del rs1060500110
NM_001304717.5(PTEN):c.729+1_729+2del rs1564826836
NM_001304717.5(PTEN):c.730-2_731del rs1554897854
NM_001304718.2(PTEN):c.-260del rs786204900
NM_001304718.2(PTEN):c.-450dup rs1554898084
NM_001304718.2(PTEN):c.-541-5518del
NM_001304718.2(PTEN):c.-612_-610ATT[1] rs1554893765
NM_001304718.2(PTEN):c.-656_-655del rs587781912
NM_001304718.2(PTEN):c.-689_-688del rs121913290
NM_001304718.2(PTEN):c.-80dup rs1114167632
NM_001304718.2(PTEN):c.-85del rs587776673
NM_003000.2(SDHB):c.591del (p.Ser198fs) rs1060503757
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter) rs80338843
NM_003002.4(SDHD):c.129G>A (p.Trp43Ter) rs104894308
NM_003002.4(SDHD):c.13_14del (p.Trp5fs) rs1566690018
NM_003002.4(SDHD):c.155C>A (p.Ser52Ter) rs587782210
NM_003002.4(SDHD):c.170-1G>T rs1306475361
NM_003002.4(SDHD):c.187_188TC[2] (p.Leu64fs) rs387906358
NM_003002.4(SDHD):c.1A>G (p.Met1Val) rs104894307
NM_003002.4(SDHD):c.1A>T (p.Met1Leu) rs104894307
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr) rs80338845
NM_003002.4(SDHD):c.314G>A (p.Trp105Ter) rs1131691065
NM_003002.4(SDHD):c.337_340del (p.Asp113fs) rs587776648
NM_003002.4(SDHD):c.33C>A (p.Cys11Ter) rs104894309
NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys) rs104894304
NM_003002.4(SDHD):c.342T>A (p.Tyr114Ter) rs1050032491
NM_003002.4(SDHD):c.3G>A (p.Met1Ile)
NM_003002.4(SDHD):c.3G>C (p.Met1Ile) rs80338842
NM_003002.4(SDHD):c.57del (p.Leu20fs) rs587776649
NM_003002.4(SDHD):c.64C>T (p.Arg22Ter) rs104894306
NM_003002.4(SDHD):c.92_93TC[1] (p.Ala33fs) rs397514034
NM_003002.4(SDHD):c.95C>A (p.Ser32Ter) rs104894305
NM_005163.2(AKT1):c.1303A>C (p.Thr435Pro) rs397514645
NM_005163.2(AKT1):c.49G>A (p.Glu17Lys) rs121434592
NM_005163.2(AKT1):c.73C>T (p.Arg25Cys) rs397514644
NM_005228.5(EGFR):c.977G>T (p.Cys326Phe) rs886037891
NM_006218.3(PIK3CA):c.[1634A>C;1658_1659delGTinsC]
NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met) rs1057519942
NM_006218.4(PIK3CA):c.1066G>A (p.Val356Ile) rs587777793
NM_006218.4(PIK3CA):c.1093G>A (p.Glu365Lys) rs1064793732
NM_006218.4(PIK3CA):c.1133G>A (p.Cys378Tyr) rs397514565
NM_006218.4(PIK3CA):c.1145G>A (p.Arg382Lys) rs587777794
NM_006218.4(PIK3CA):c.1895T>G (p.Leu632Ter) rs587777796
NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile) rs121913283
NM_006218.4(PIK3CA):c.3129G>T (p.Met1043Ile) rs121913283
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) rs587777790
NM_006218.4(PIK3CA):c.403G>A (p.Glu135Lys) rs587777791
NM_006218.4(PIK3CA):c.652G>A (p.Glu218Lys) rs587777792
NM_006363.6(SEC23B):c.1507C>T (p.Arg503Ter) rs1568617456
NM_006363.6(SEC23B):c.1781T>G (p.Val594Gly) rs752366963
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys) rs121918221
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp) rs121918222
NM_006363.6(SEC23B):c.689+1G>A rs398124226
NM_006363.6(SEC23B):c.816del (p.Ile272fs) rs1568606490
PTEN, CYS124SER
PTEN, DEL
Single allele

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