ClinVar Miner

List of variants reported as uncertain significance for PTEN hamartoma tumor syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 296
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HGVS dbSNP
NC_000010.10:g.(?_89622918)_(89624325_?)dup
NC_000010.10:g.(?_89622928)_(89725239_?)dup
NM_000314.4(PTEN):c.-1242G>A rs587779985
NM_000314.4(PTEN):c.-845A>C rs786204861
NM_000314.4(PTEN):c.-868G>C rs587782133
NM_000314.4(PTEN):c.-920G>A rs786204937
NM_000314.7(PTEN):c.*1034T>G rs886047412
NM_000314.7(PTEN):c.*10del rs756681683
NM_000314.7(PTEN):c.*1119A>T rs376153776
NM_000314.7(PTEN):c.*1150C>A rs886047414
NM_000314.7(PTEN):c.*1173G>A rs886047415
NM_000314.7(PTEN):c.*1202T>C rs886047416
NM_000314.7(PTEN):c.*124C>T rs886047399
NM_000314.7(PTEN):c.*1363dup rs886047417
NM_000314.7(PTEN):c.*1436_*1437insGTT rs563751927
NM_000314.7(PTEN):c.*1440T>G rs886047422
NM_000314.7(PTEN):c.*1442T>G rs886047423
NM_000314.7(PTEN):c.*1449T>G rs886047424
NM_000314.7(PTEN):c.*1457_*1459del rs5786797
NM_000314.7(PTEN):c.*1458_*1459del rs5786797
NM_000314.7(PTEN):c.*1459T>A rs886047425
NM_000314.7(PTEN):c.*1459del rs5786797
NM_000314.7(PTEN):c.*1459dup rs5786797
NM_000314.7(PTEN):c.*1460A>T rs35632884
NM_000314.7(PTEN):c.*1462del rs886047418
NM_000314.7(PTEN):c.*1529C>T rs886047427
NM_000314.7(PTEN):c.*1572C>T rs886047428
NM_000314.7(PTEN):c.*1576T>A rs886047429
NM_000314.7(PTEN):c.*1583G>A rs548599209
NM_000314.7(PTEN):c.*1591A>G rs886047430
NM_000314.7(PTEN):c.*1669C>A rs886047431
NM_000314.7(PTEN):c.*1762G>A rs886047432
NM_000314.7(PTEN):c.*176del rs886047400
NM_000314.7(PTEN):c.*178T>G rs886047401
NM_000314.7(PTEN):c.*2027A>C rs886047433
NM_000314.7(PTEN):c.*2061T>A rs886047434
NM_000314.7(PTEN):c.*2110G>T rs886047435
NM_000314.7(PTEN):c.*2200C>A rs886047436
NM_000314.7(PTEN):c.*2203A>G rs886047437
NM_000314.7(PTEN):c.*2263_*2265ATT[1] rs775116816
NM_000314.7(PTEN):c.*2408_*2414del rs886047439
NM_000314.7(PTEN):c.*2437A>G rs886047440
NM_000314.7(PTEN):c.*2558C>A rs886047441
NM_000314.7(PTEN):c.*2683_*2684insACA rs886047442
NM_000314.7(PTEN):c.*2685_*2687CTC[1] rs886047443
NM_000314.7(PTEN):c.*2746C>A rs886047444
NM_000314.7(PTEN):c.*2771T>C rs886047445
NM_000314.7(PTEN):c.*2789C>G rs886047446
NM_000314.7(PTEN):c.*2821A>T rs11591427
NM_000314.7(PTEN):c.*2905G>C rs886047447
NM_000314.7(PTEN):c.*3033C>A rs886047448
NM_000314.7(PTEN):c.*3083C>A rs886047449
NM_000314.7(PTEN):c.*3177A>G rs886047450
NM_000314.7(PTEN):c.*430A>G rs886047402
NM_000314.7(PTEN):c.*515T>C rs886047403
NM_000314.7(PTEN):c.*597C>A rs886047404
NM_000314.7(PTEN):c.*621G>T rs886047405
NM_000314.7(PTEN):c.*631C>A rs886047406
NM_000314.7(PTEN):c.*640C>A rs886047407
NM_000314.7(PTEN):c.*667A>T rs886047409
NM_000314.7(PTEN):c.*74T>C rs886047398
NM_000314.7(PTEN):c.*790A>G rs886047411
NM_000314.7(PTEN):c.*791_*793del rs886047410
NM_000314.7(PTEN):c.-111G>T rs761148721
NM_000314.7(PTEN):c.-121A>G rs886047395
NM_000314.7(PTEN):c.-190G>A rs886047394
NM_000314.7(PTEN):c.-246C>T rs886047393
NM_000314.7(PTEN):c.-295T>C rs886047392
NM_000314.7(PTEN):c.-32_-30CCT[1] rs749497048
NM_000314.7(PTEN):c.-355G>A rs886047391
NM_000314.7(PTEN):c.-425G>T rs886047390
NM_000314.7(PTEN):c.-458G>T rs886047389
NM_000314.7(PTEN):c.-461G>A rs886047388
NM_000314.7(PTEN):c.-481_-473del rs1226857287
NM_000314.7(PTEN):c.-506del rs886047386
NM_000314.7(PTEN):c.-700G>A rs1554890059
NM_000314.7(PTEN):c.-734G>A rs886047384
NM_000314.7(PTEN):c.-736C>G rs886047383
NM_000314.7(PTEN):c.-764G>A rs587776674
NM_000314.7(PTEN):c.-798G>C rs587779992
NM_000314.7(PTEN):c.-861G>T rs587776675
NM_000314.7(PTEN):c.1016C>A (p.Pro339Gln) rs1564568679
NM_000314.7(PTEN):c.1018A>C (p.Asn340His) rs759852661
NM_000314.7(PTEN):c.1020T>A (p.Asn340Lys) rs1554825649
NM_000314.7(PTEN):c.1026+6T>A
NM_000314.7(PTEN):c.1027-4C>G rs587782788
NM_000314.7(PTEN):c.1027G>A (p.Val343Met) rs1060500120
NM_000314.7(PTEN):c.103A>G (p.Met35Val) rs876659443
NM_000314.7(PTEN):c.1052_1054del (p.Val351del) rs587780003
NM_000314.7(PTEN):c.1054G>C (p.Glu352Gln) rs1554826034
NM_000314.7(PTEN):c.1054_1056GAG[1] (p.Glu353del) rs878853931
NM_000314.7(PTEN):c.1058A>G (p.Glu353Gly) rs878853932
NM_000314.7(PTEN):c.105G>A (p.Met35Ile) rs1554893782
NM_000314.7(PTEN):c.1061C>A (p.Pro354Gln) rs375709098
NM_000314.7(PTEN):c.1061C>T (p.Pro354Leu) rs375709098
NM_000314.7(PTEN):c.1066A>G (p.Asn356Asp) rs587782345
NM_000314.7(PTEN):c.1066A>T (p.Asn356Tyr) rs587782345
NM_000314.7(PTEN):c.1068T>A (p.Asn356Lys) rs1564570356
NM_000314.7(PTEN):c.1069C>A (p.Pro357Thr) rs876661264
NM_000314.7(PTEN):c.1074G>C (p.Glu358Asp) rs876659464
NM_000314.7(PTEN):c.1075G>T (p.Ala359Ser) rs864622594
NM_000314.7(PTEN):c.1078A>G (p.Ser360Gly) rs587781273
NM_000314.7(PTEN):c.1079G>C (p.Ser360Thr) rs1060500127
NM_000314.7(PTEN):c.1087A>G (p.Thr363Ala) rs765416558
NM_000314.7(PTEN):c.1093G>A (p.Val365Ile) rs758542021
NM_000314.7(PTEN):c.1096A>G (p.Thr366Ala) rs1564570409
NM_000314.7(PTEN):c.1105G>A (p.Val369Ile) rs587782224
NM_000314.7(PTEN):c.1115A>G (p.Asn372Ser) rs1370349057
NM_000314.7(PTEN):c.1123G>A (p.Asp375Asn) rs1564570429
NM_000314.7(PTEN):c.1124A>G (p.Asp375Gly)
NM_000314.7(PTEN):c.1130A>T (p.Tyr377Phe) rs751286806
NM_000314.7(PTEN):c.1132A>G (p.Arg378Gly) rs1554826055
NM_000314.7(PTEN):c.1160C>T (p.Pro387Leu) rs1564570452
NM_000314.7(PTEN):c.1171C>T (p.Pro391Ser) rs786203911
NM_000314.7(PTEN):c.1190A>G (p.His397Arg) rs876661021
NM_000314.7(PTEN):c.1198A>G (p.Ile400Val) rs863224665
NM_000314.7(PTEN):c.1204A>G (p.Lys402Glu) rs1554826064
NM_000314.7(PTEN):c.1206A>C (p.Lys402Asn) rs1064796017
NM_000314.7(PTEN):c.1212A>T (p.Ter404Cys) rs876660879
NM_000314.7(PTEN):c.139A>G (p.Arg47Gly) rs786204855
NM_000314.7(PTEN):c.13A>G (p.Ile5Val) rs1060500109
NM_000314.7(PTEN):c.150T>G (p.Ile50Met) rs1564814601
NM_000314.7(PTEN):c.154G>A (p.Asp52Asn) rs1564814606
NM_000314.7(PTEN):c.159A>G (p.Val53=) rs189583426
NM_000314.7(PTEN):c.164+4A>G rs1554893837
NM_000314.7(PTEN):c.16A>G (p.Lys6Glu)
NM_000314.7(PTEN):c.172G>A (p.Asp58Asn) rs1554897255
NM_000314.7(PTEN):c.172G>T (p.Asp58Tyr) rs1554897255
NM_000314.7(PTEN):c.175T>C (p.Ser59Pro) rs1060500118
NM_000314.7(PTEN):c.184A>G (p.Lys62Glu) rs1564826779
NM_000314.7(PTEN):c.186A>C (p.Lys62Asn) rs1564826791
NM_000314.7(PTEN):c.206A>G (p.Asn69Ser) rs786204922
NM_000314.7(PTEN):c.209+3A>T rs786202612
NM_000314.7(PTEN):c.209+6T>G rs1554897282
NM_000314.7(PTEN):c.210-7_210-3del rs587780544
NM_000314.7(PTEN):c.212G>T (p.Cys71Phe) rs1554897856
NM_000314.7(PTEN):c.21G>C (p.Glu7Asp) rs1554890337
NM_000314.7(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000314.7(PTEN):c.235G>T (p.Ala79Ser) rs202004587
NM_000314.7(PTEN):c.253+4G>A rs1060500112
NM_000314.7(PTEN):c.253+4_253+7del rs876659695
NM_000314.7(PTEN):c.274G>T (p.Asp92Tyr) rs1554898067
NM_000314.7(PTEN):c.278A>C (p.His93Pro) rs121909238
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.287C>T (p.Pro96Leu) rs1554898074
NM_000314.7(PTEN):c.289C>G (p.Gln97Glu) rs786204928
NM_000314.7(PTEN):c.293T>G (p.Leu98Arg) rs781647403
NM_000314.7(PTEN):c.299T>C (p.Leu100Pro)
NM_000314.7(PTEN):c.302T>A (p.Ile101Asn)
NM_000314.7(PTEN):c.304A>C (p.Lys102Gln) rs786202944
NM_000314.7(PTEN):c.308C>G (p.Pro103Arg) rs1060500111
NM_000314.7(PTEN):c.314G>A (p.Cys105Tyr) rs587782343
NM_000314.7(PTEN):c.319G>T (p.Asp107Tyr) rs57374291
NM_000314.7(PTEN):c.320A>T (p.Asp107Val) rs786204858
NM_000314.7(PTEN):c.329A>G (p.Gln110Arg) rs1564830013
NM_000314.7(PTEN):c.333G>C (p.Trp111Cys) rs1554898097
NM_000314.7(PTEN):c.338G>T (p.Ser113Ile) rs587781254
NM_000314.7(PTEN):c.349A>C (p.Asn117His) rs771310592
NM_000314.7(PTEN):c.350A>G (p.Asn117Ser) rs551221430
NM_000314.7(PTEN):c.352C>T (p.His118Tyr) rs1564830084
NM_000314.7(PTEN):c.353A>G (p.His118Arg) rs1554898107
NM_000314.7(PTEN):c.359C>T (p.Ala120Val)
NM_000314.7(PTEN):c.364A>G (p.Ile122Val) rs786202740
NM_000314.7(PTEN):c.376G>A (p.Ala126Thr) rs1554898129
NM_000314.7(PTEN):c.389G>C (p.Arg130Pro) rs121909229
NM_000314.7(PTEN):c.421C>G (p.His141Asp) rs1060500129
NM_000314.7(PTEN):c.421C>T (p.His141Tyr) rs1060500129
NM_000314.7(PTEN):c.424C>T (p.Arg142Trp) rs746152219
NM_000314.7(PTEN):c.425G>A (p.Arg142Gln) rs753630034
NM_000314.7(PTEN):c.440A>G (p.Lys147Arg) rs757087471
NM_000314.7(PTEN):c.449A>G (p.Glu150Gly) rs1554898193
NM_000314.7(PTEN):c.44G>A (p.Arg15Lys) rs398123324
NM_000314.7(PTEN):c.455T>C (p.Leu152Pro) rs1554898197
NM_000314.7(PTEN):c.457G>A (p.Asp153Asn) rs9651492
NM_000314.7(PTEN):c.466G>A (p.Gly156Arg) rs1554898209
NM_000314.7(PTEN):c.476G>A (p.Arg159Lys)
NM_000314.7(PTEN):c.478A>C (p.Thr160Pro) rs1060500128
NM_000314.7(PTEN):c.488A>G (p.Lys163Arg) rs786202753
NM_000314.7(PTEN):c.492+2dup rs1554898245
NM_000314.7(PTEN):c.492+3A>G rs1564830529
NM_000314.7(PTEN):c.492G>A (p.Lys164=) rs146629065
NM_000314.7(PTEN):c.493G>A (p.Gly165Arg) rs587782603
NM_000314.7(PTEN):c.496G>C (p.Val166Leu)
NM_000314.7(PTEN):c.503T>C (p.Ile168Thr) rs1554900530
NM_000314.7(PTEN):c.508A>G (p.Ser170Gly) rs1554900534
NM_000314.7(PTEN):c.512A>C (p.Gln171Pro) rs786204865
NM_000314.7(PTEN):c.517C>A (p.Arg173Ser) rs121913293
NM_000314.7(PTEN):c.521A>G (p.Tyr174Cys) rs864622341
NM_000314.7(PTEN):c.527A>G (p.Tyr176Cys) rs757498880
NM_000314.7(PTEN):c.530A>G (p.Tyr177Cys) rs1564837839
NM_000314.7(PTEN):c.533A>G (p.Tyr178Cys) rs786204866
NM_000314.7(PTEN):c.538T>C (p.Tyr180His) rs746280047
NM_000314.7(PTEN):c.545T>C (p.Leu182Ser) rs794729664
NM_000314.7(PTEN):c.569C>G (p.Pro190Arg) rs1554900617
NM_000314.7(PTEN):c.569C>T (p.Pro190Leu) rs1554900617
NM_000314.7(PTEN):c.571G>T (p.Val191Leu) rs1060500130
NM_000314.7(PTEN):c.577C>T (p.Leu193=) rs772631069
NM_000314.7(PTEN):c.592A>G (p.Met198Val) rs1554900633
NM_000314.7(PTEN):c.592_594ATG[1] (p.Met199del) rs1064793244
NM_000314.7(PTEN):c.593T>A (p.Met198Lys) rs1554900635
NM_000314.7(PTEN):c.596T>A (p.Met199Lys) rs587781538
NM_000314.7(PTEN):c.596T>C (p.Met199Thr) rs587781538
NM_000314.7(PTEN):c.597_599del (p.Met199_Phe200delinsIle) rs1564837980
NM_000314.7(PTEN):c.599T>C (p.Phe200Ser) rs786204867
NM_000314.7(PTEN):c.604A>G (p.Thr202Ala)
NM_000314.7(PTEN):c.607A>G (p.Ile203Val) rs1564837997
NM_000314.7(PTEN):c.610C>T (p.Pro204Ser) rs786204868
NM_000314.7(PTEN):c.613A>G (p.Met205Val) rs776763121
NM_000314.7(PTEN):c.625G>A (p.Gly209Arg) rs765433422
NM_000314.7(PTEN):c.635-3C>G rs1085308056
NM_000314.7(PTEN):c.635-7C>A rs1554825148
NM_000314.7(PTEN):c.646G>A (p.Val216Met)
NM_000314.7(PTEN):c.64G>T (p.Asp22Tyr) rs876660420
NM_000314.7(PTEN):c.650T>G (p.Val217Gly) rs1060500117
NM_000314.7(PTEN):c.664G>T (p.Val222Leu) rs878853943
NM_000314.7(PTEN):c.668A>G (p.Lys223Arg) rs778528056
NM_000314.7(PTEN):c.671T>C (p.Ile224Thr)
NM_000314.7(PTEN):c.672A>G (p.Ile224Met) rs786204946
NM_000314.7(PTEN):c.683A>G (p.Asn228Ser) rs748240670
NM_000314.7(PTEN):c.685T>A (p.Ser229Thr) rs587781998
NM_000314.7(PTEN):c.692C>T (p.Pro231Leu) rs1554825190
NM_000314.7(PTEN):c.698G>A (p.Arg233Gln) rs770025422
NM_000314.7(PTEN):c.700C>T (p.Arg234Trp) rs786201730
NM_000314.7(PTEN):c.701G>A (p.Arg234Gln) rs121909235
NM_000314.7(PTEN):c.715A>G (p.Met239Val) rs786201758
NM_000314.7(PTEN):c.722T>C (p.Phe241Ser) rs121909240
NM_000314.7(PTEN):c.752G>C (p.Gly251Ala) rs1554825226
NM_000314.7(PTEN):c.752G>T (p.Gly251Val) rs1554825226
NM_000314.7(PTEN):c.755A>G (p.Asp252Gly) rs121909239
NM_000314.7(PTEN):c.755A>T (p.Asp252Val) rs121909239
NM_000314.7(PTEN):c.758T>A (p.Ile253Asn) rs1554825235
NM_000314.7(PTEN):c.75G>A (p.Leu25=) rs786201506
NM_000314.7(PTEN):c.779A>G (p.Lys260Arg) rs1060500125
NM_000314.7(PTEN):c.783G>T (p.Gln261His) rs760146269
NM_000314.7(PTEN):c.78C>A (p.Thr26=) rs786201280
NM_000314.7(PTEN):c.78C>T (p.Thr26=) rs786201280
NM_000314.7(PTEN):c.79+20C>G rs587781291
NM_000314.7(PTEN):c.79+5C>G rs1564801891
NM_000314.7(PTEN):c.79+7A>G rs374331677
NM_000314.7(PTEN):c.794T>C (p.Leu265Pro) rs1335033900
NM_000314.7(PTEN):c.80-7T>G rs1554893742
NM_000314.7(PTEN):c.800A>G (p.Lys267Arg) rs1554825264
NM_000314.7(PTEN):c.801G>T (p.Lys267Asn) rs1554825266
NM_000314.7(PTEN):c.802-2del rs886047397
NM_000314.7(PTEN):c.802-2dup rs1554825500
NM_000314.7(PTEN):c.802-3T>A rs587780712
NM_000314.7(PTEN):c.80A>G (p.Tyr27Cys) rs886041877
NM_000314.7(PTEN):c.810G>T (p.Met270Ile) rs1195369834
NM_000314.7(PTEN):c.820T>C (p.Trp274Arg)
NM_000314.7(PTEN):c.823G>A (p.Val275Ile) rs1410198544
NM_000314.7(PTEN):c.826A>G (p.Asn276Asp)
NM_000314.7(PTEN):c.829A>G (p.Thr277Ala) rs1564568216
NM_000314.7(PTEN):c.830C>G (p.Thr277Arg) rs398123329
NM_000314.7(PTEN):c.838A>G (p.Ile280Val) rs1474354667
NM_000314.7(PTEN):c.841C>G (p.Pro281Ala) rs750705904
NM_000314.7(PTEN):c.841C>T (p.Pro281Ser) rs750705904
NM_000314.7(PTEN):c.853G>A (p.Glu285Lys) rs1564568265
NM_000314.7(PTEN):c.859T>C (p.Ser287Pro) rs1554825526
NM_000314.7(PTEN):c.872A>G (p.Glu291Gly) rs1564568318
NM_000314.7(PTEN):c.881G>A (p.Ser294Asn) rs1175543698
NM_000314.7(PTEN):c.882T>G (p.Ser294Arg) rs143335584
NM_000314.7(PTEN):c.887G>A (p.Cys296Tyr) rs1060500121
NM_000314.7(PTEN):c.889G>C (p.Asp297His) rs370064195
NM_000314.7(PTEN):c.889G>T (p.Asp297Tyr) rs370064195
NM_000314.7(PTEN):c.892C>A (p.Gln298Lys) rs371387815
NM_000314.7(PTEN):c.892C>G (p.Gln298Glu) rs371387815
NM_000314.7(PTEN):c.901G>A (p.Asp301Asn) rs758644748
NM_000314.7(PTEN):c.906C>G (p.Ser302Arg) rs876660906
NM_000314.7(PTEN):c.907A>G (p.Ile303Val) rs1114167660
NM_000314.7(PTEN):c.908T>G (p.Ile303Ser) rs772018727
NM_000314.7(PTEN):c.914G>A (p.Ser305Asn) rs587780007
NM_000314.7(PTEN):c.916A>G (p.Ile306Val) rs786203858
NM_000314.7(PTEN):c.919G>C (p.Glu307Gln) rs746930141
NM_000314.7(PTEN):c.922C>T (p.Arg308Cys) rs1064794436
NM_000314.7(PTEN):c.923G>A (p.Arg308His) rs786201507
NM_000314.7(PTEN):c.929A>G (p.Asp310Gly) rs1564568473
NM_000314.7(PTEN):c.934G>A (p.Asp312Asn) rs878853946
NM_000314.7(PTEN):c.935A>G (p.Asp312Gly) rs863224667
NM_000314.7(PTEN):c.937A>C (p.Lys313Gln)
NM_000314.7(PTEN):c.93C>A (p.Asn31Lys) rs1170214930
NM_000314.7(PTEN):c.941A>C (p.Glu314Ala) rs1171478249
NM_000314.7(PTEN):c.946C>A (p.Leu316Ile) rs1554825577
NM_000314.7(PTEN):c.949G>A (p.Val317Ile) rs876658630
NM_000314.7(PTEN):c.968A>C (p.Asn323Thr)
NM_000314.7(PTEN):c.98T>C (p.Ile33Thr) rs1554893771
NM_000314.7(PTEN):c.999_1016del (p.Arg335_Asn340del)
NM_001126049.1(KLLN):c.-812G>A rs587779981
NM_001126049.1(KLLN):c.316C>A (p.Pro106Thr)
NM_001304718.2(PTEN):c.-342_-340delinsTTT rs878853938
NM_001304718.2(PTEN):c.-447_-445dup rs587782641
NM_001304718.2(PTEN):c.-495G>A rs1564829780
NM_001304718.2(PTEN):c.-554_-552ATG[1]
NM_001304718.2(PTEN):c.-637_-635dup
NM_001304718.2(PTEN):c.-66_-64TAT[2] rs587780711
NM_001304718.2(PTEN):c.-676_-674del rs1114167649

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