ClinVar Miner

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

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 600
Download table as spreadsheet
HGVS dbSNP
NC_000003.11:g.(?_178916538)_(178952500_?)dup
NC_000003.11:g.(?_178941859)_(178952162_?)dup
NC_000010.10:g.(?_89622918)_(89624325_?)dup
NC_000010.10:g.(?_89622928)_(89725239_?)dup
NC_000011.9:g.(?_111957622)_(111965704_?)dup
NM_000314.4(PTEN):c.-868G>C rs587782133
NM_000314.4(PTEN):c.-920G>A rs786204937
NM_000314.4(PTEN):c.-943C>T rs587779999
NM_000314.7(PTEN):c.*1034T>G rs886047412
NM_000314.7(PTEN):c.*10del rs756681683
NM_000314.7(PTEN):c.*10dup 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.-665G>A rs553371022
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.-821G>T rs587779993
NM_000314.7(PTEN):c.-834C>T rs587779994
NM_000314.7(PTEN):c.-861G>T rs587776675
NM_000314.7(PTEN):c.1004G>T (p.Arg335Leu) rs1085308040
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.152_154ATG[1] (p.Asp52del)
NM_000314.7(PTEN):c.152_160dup (p.Asp51_Val53dup) rs1564814602
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.210-39A>G rs370918174
NM_000314.7(PTEN):c.210-7_210-3del rs587780544
NM_000314.7(PTEN):c.210-8del rs1554897849
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.254-30dup rs77494260
NM_000314.7(PTEN):c.254-51A>T rs1554898040
NM_000314.7(PTEN):c.254-72A>T rs1554898037
NM_000314.7(PTEN):c.256G>A (p.Ala86Thr) rs1564829780
NM_000314.7(PTEN):c.265C>T (p.Pro89Ser) rs587783059
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.409_411delinsTTT (p.Ala137Phe) rs878853938
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.464A>G (p.Tyr155Cys) rs1060500126
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.493-31A>G rs550267891
NM_000314.7(PTEN):c.493-52A>G rs1043121029
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)
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.526_528TAT[2] (p.Tyr178del) rs587780711
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)
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.69_71dup (p.Asp24_Leu25insGlu)
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)
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.80-3C>G rs1554893746
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.802-51_802-14del rs557364463
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.862G>A (p.Glu288Lys) rs1554825528
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)
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.-736G>C rs1554889801
NM_001126049.1(KLLN):c.-792C>T rs587779982
NM_001126049.1(KLLN):c.-806A>C rs587782761
NM_001126049.1(KLLN):c.-812G>A rs587779981
NM_001126049.1(KLLN):c.-812G>T rs587779981
NM_001126049.1(KLLN):c.-828C>T rs786203674
NM_001126049.1(KLLN):c.-887C>T rs786204920
NM_001304718.2(PTEN):c.-447_-445dup rs587782641
NM_001304718.2(PTEN):c.-676_-674del rs1114167649
NM_003000.2(SDHB):c.112C>T (p.Arg38Cys) rs202119350
NM_003000.2(SDHB):c.200+7A>G rs371329778
NM_003000.2(SDHB):c.307A>G (p.Met103Val) rs140178341
NM_003000.2(SDHB):c.32G>A (p.Arg11His) rs111430410
NM_003000.2(SDHB):c.440A>G (p.Tyr147Cys) rs774568101
NM_003000.2(SDHB):c.487T>C (p.Ser163Pro) rs33927012
NM_003000.2(SDHB):c.540+11C>T rs1160578491
NM_003000.2(SDHB):c.559A>G (p.Ile187Val) rs1557739989
NM_003000.2(SDHB):c.638T>C (p.Met213Thr) rs202014362
NM_003000.2(SDHB):c.721T>G (p.Tyr241Asp) rs1060503758
NM_003000.2(SDHB):c.769C>G (p.Leu257Val)
NM_003000.2(SDHB):c.8C>G (p.Ala3Gly) rs11203289
NM_003002.4(SDHD):c.101T>G (p.Phe34Cys) rs141802836
NM_003002.4(SDHD):c.107A>G (p.Gln36Arg) rs759143732
NM_003002.4(SDHD):c.113G>C (p.Arg38Pro) rs199901239
NM_003002.4(SDHD):c.116C>T (p.Pro39Leu)
NM_003002.4(SDHD):c.118A>C (p.Ile40Leu) rs146276662
NM_003002.4(SDHD):c.118A>G (p.Ile40Val) rs146276662
NM_003002.4(SDHD):c.119T>C (p.Ile40Thr)
NM_003002.4(SDHD):c.121C>G (p.Pro41Ala) rs764006625
NM_003002.4(SDHD):c.122C>T (p.Pro41Leu)
NM_003002.4(SDHD):c.131G>A (p.Cys44Tyr) rs1566692479
NM_003002.4(SDHD):c.136G>A (p.Val46Met) rs886047699
NM_003002.4(SDHD):c.13T>C (p.Trp5Arg) rs778202647
NM_003002.4(SDHD):c.140A>G (p.Gln47Arg) rs899706404
NM_003002.4(SDHD):c.146T>C (p.Ile49Thr) rs1555186808
NM_003002.4(SDHD):c.147A>G (p.Ile49Met) rs1566692534
NM_003002.4(SDHD):c.148C>G (p.His50Asp) rs779249550
NM_003002.4(SDHD):c.148C>T (p.His50Tyr) rs779249550
NM_003002.4(SDHD):c.158C>T (p.Pro53Leu) rs149516118
NM_003002.4(SDHD):c.167A>C (p.His56Pro) rs1555186817
NM_003002.4(SDHD):c.16A>G (p.Arg6Gly)
NM_003002.4(SDHD):c.176C>T (p.Ser59Phe)
NM_003002.4(SDHD):c.18G>T (p.Arg6Ser)
NM_003002.4(SDHD):c.194A>G (p.His65Arg) rs780226013
NM_003002.4(SDHD):c.199_201delinsGCC (p.Thr67Ala) rs1555186981
NM_003002.4(SDHD):c.200C>A (p.Thr67Asn)
NM_003002.4(SDHD):c.205G>A (p.Glu69Lys) rs202198133
NM_003002.4(SDHD):c.209G>A (p.Arg70Lys) rs755047928
NM_003002.4(SDHD):c.211G>A (p.Val71Ile) rs1428042303
NM_003002.4(SDHD):c.217A>G (p.Ser73Gly) rs748545223
NM_003002.4(SDHD):c.224T>C (p.Leu75Ser) rs1060503777
NM_003002.4(SDHD):c.232G>C (p.Gly78Arg)
NM_003002.4(SDHD):c.238C>T (p.Leu80Phe)
NM_003002.4(SDHD):c.243G>A (p.Pro81=)
NM_003002.4(SDHD):c.244G>C (p.Ala82Pro) rs745559875
NM_003002.4(SDHD):c.248C>T (p.Ala83Val) rs370165653
NM_003002.4(SDHD):c.255G>C (p.Leu85Phe) rs199517389
NM_003002.4(SDHD):c.255G>T (p.Leu85Phe) rs199517389
NM_003002.4(SDHD):c.25G>A (p.Ala9Thr)
NM_003002.4(SDHD):c.25G>T (p.Ala9Ser)
NM_003002.4(SDHD):c.263G>T (p.Cys88Phe)
NM_003002.4(SDHD):c.268G>A (p.Ala90Thr)
NM_003002.4(SDHD):c.268_269delinsTT (p.Ala90Leu) rs1555187033
NM_003002.4(SDHD):c.269C>A (p.Ala90Glu) rs200255724
NM_003002.4(SDHD):c.269C>T (p.Ala90Val) rs200255724
NM_003002.4(SDHD):c.26C>G (p.Ala9Gly)
NM_003002.4(SDHD):c.272T>A (p.Met91Lys)
NM_003002.4(SDHD):c.275A>T (p.Asp92Val) rs786205436
NM_003002.4(SDHD):c.277T>C (p.Tyr93His)
NM_003002.4(SDHD):c.278A>G (p.Tyr93Cys) rs142135772
NM_003002.4(SDHD):c.281C>G (p.Ser94Cys) rs199754684
NM_003002.4(SDHD):c.281C>T (p.Ser94Phe)
NM_003002.4(SDHD):c.288_290del (p.Ala98del) rs1566694825
NM_003002.4(SDHD):c.28G>A (p.Val10Ile) rs1555186671
NM_003002.4(SDHD):c.290C>T (p.Ala97Val) rs756533450
NM_003002.4(SDHD):c.293C>T (p.Ala98Val) rs200980609
NM_003002.4(SDHD):c.298A>G (p.Thr100Ala) rs1555187065
NM_003002.4(SDHD):c.304C>A (p.His102Asn) rs786202403
NM_003002.4(SDHD):c.305A>G (p.His102Arg)
NM_003002.4(SDHD):c.314+3A>C rs1555187084
NM_003002.4(SDHD):c.314+4A>G
NM_003002.4(SDHD):c.314+5G>A rs1566695035
NM_003002.4(SDHD):c.314+6T>C rs1555187085
NM_003002.4(SDHD):c.315-3T>C rs1555187565
NM_003002.4(SDHD):c.315-3del rs1566702297
NM_003002.4(SDHD):c.315-7_315-5delinsAAA rs1060503775
NM_003002.4(SDHD):c.317G>T (p.Gly106Val) rs1555187574
NM_003002.4(SDHD):c.319C>T (p.Leu107Phe) rs1209781530
NM_003002.4(SDHD):c.327A>G (p.Gln109=) rs1566702383
NM_003002.4(SDHD):c.328G>A (p.Val110Ile) rs1060503771
NM_003002.4(SDHD):c.331G>A (p.Val111Ile) rs201869798
NM_003002.4(SDHD):c.335C>T (p.Thr112Ile) rs199869408
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591
NM_003002.4(SDHD):c.351G>T (p.Gly117=) rs1566702512
NM_003002.4(SDHD):c.356C>A (p.Ala119Asp)
NM_003002.4(SDHD):c.356C>T (p.Ala119Val) rs758784300
NM_003002.4(SDHD):c.35G>A (p.Gly12Asp) rs764384503
NM_003002.4(SDHD):c.374A>G (p.Lys125Arg)
NM_003002.4(SDHD):c.375G>T (p.Lys125Asn) rs878854595
NM_003002.4(SDHD):c.37G>A (p.Ala13Thr) rs940936212
NM_003002.4(SDHD):c.37G>T (p.Ala13Ser) rs940936212
NM_003002.4(SDHD):c.386T>C (p.Leu129Ser)
NM_003002.4(SDHD):c.388G>C (p.Ala130Pro) rs1312671864
NM_003002.4(SDHD):c.38C>T (p.Ala13Val)
NM_003002.4(SDHD):c.397G>A (p.Ala133Thr) rs1060503774
NM_003002.4(SDHD):c.397G>C (p.Ala133Pro) rs1060503774
NM_003002.4(SDHD):c.398C>A (p.Ala133Asp) rs755584530
NM_003002.4(SDHD):c.400T>G (p.Leu134Val) rs200851392
NM_003002.4(SDHD):c.409G>C (p.Ala137Pro) rs1555187611
NM_003002.4(SDHD):c.40C>T (p.Leu14=) rs1060503772
NM_003002.4(SDHD):c.413G>T (p.Gly138Val) rs1401695686
NM_003002.4(SDHD):c.416T>G (p.Leu139Arg)
NM_003002.4(SDHD):c.421T>C (p.Tyr141His) rs1394514096
NM_003002.4(SDHD):c.428A>G (p.Asn143Ser) rs770909248
NM_003002.4(SDHD):c.433C>A (p.His145Asn) rs121908984
NM_003002.4(SDHD):c.436G>A (p.Asp146Asn)
NM_003002.4(SDHD):c.43G>C (p.Gly15Arg)
NM_003002.4(SDHD):c.453A>C (p.Lys151Asn) rs761953172
NM_003002.4(SDHD):c.455_463del (p.Ala152_Met155delinsVal)
NM_003002.4(SDHD):c.458T>C (p.Val153Ala) rs1555187644
NM_003002.4(SDHD):c.464T>A (p.Met155Lys) rs1060503776
NM_003002.4(SDHD):c.46G>C (p.Gly16Arg) rs1555186687
NM_003002.4(SDHD):c.46G>T (p.Gly16Cys) rs1555186687
NM_003002.4(SDHD):c.473_*3dup (p.Lys158_Ter160=) rs878854596
NM_003002.4(SDHD):c.478T>A (p.Ter160Arg) rs1555187655
NM_003002.4(SDHD):c.479G>T (p.Ter160Leu) rs201372601
NM_003002.4(SDHD):c.4G>A (p.Ala2Thr)
NM_003002.4(SDHD):c.51A>C (p.Arg17=) rs199890548
NM_003002.4(SDHD):c.52+5G>C
NM_003002.4(SDHD):c.52+6G>A rs1416678757
NM_003002.4(SDHD):c.53-9_53-6del
NM_003002.4(SDHD):c.53C>T (p.Ala18Val) rs192332761
NM_003002.4(SDHD):c.5C>G (p.Ala2Gly) rs1440670464
NM_003002.4(SDHD):c.73G>T (p.Val25Leu) rs878854597
NM_003002.4(SDHD):c.7G>T (p.Val3Phe) rs1555186656
NM_003002.4(SDHD):c.80G>A (p.Arg27Lys) rs200671534
NM_003002.4(SDHD):c.82C>A (p.Pro28Thr) rs541477171
NM_003002.4(SDHD):c.82C>G (p.Pro28Ala) rs541477171
NM_003002.4(SDHD):c.85G>C (p.Ala29Pro) rs776930864
NM_003002.4(SDHD):c.86C>T (p.Ala29Val) rs1555186774
NM_003002.4(SDHD):c.89A>C (p.His30Pro)
NM_005163.2(AKT1):c.106A>G (p.Ile36Val) rs781339141
NM_005163.2(AKT1):c.107T>C (p.Ile36Thr)
NM_005163.2(AKT1):c.1099C>A (p.Arg367Ser) rs762705090
NM_005163.2(AKT1):c.1099C>T (p.Arg367Cys)
NM_005163.2(AKT1):c.10G>A (p.Val4Met) rs754031503
NM_005163.2(AKT1):c.1109G>A (p.Arg370His)
NM_005163.2(AKT1):c.1112C>A (p.Thr371Lys)
NM_005163.2(AKT1):c.1159G>A (p.Asp387Asn) rs1566816289
NM_005163.2(AKT1):c.117G>A (p.Lys39=)
NM_005163.2(AKT1):c.1191G>T (p.Glu397Asp) rs1334042967
NM_005163.2(AKT1):c.1195G>A (p.Ala399Thr)
NM_005163.2(AKT1):c.1198A>G (p.Lys400Glu)
NM_005163.2(AKT1):c.1228G>A (p.Gly410Ser) rs146483593
NM_005163.2(AKT1):c.1242G>C (p.Gln414His) rs1555383354
NM_005163.2(AKT1):c.1260+4C>T rs765999603
NM_005163.2(AKT1):c.1261C>T (p.Leu421Phe) rs1566815164
NM_005163.2(AKT1):c.1320G>T (p.Glu440Asp) rs1159942120
NM_005163.2(AKT1):c.1361A>G (p.Gln454Arg) rs759702315
NM_005163.2(AKT1):c.1373T>C (p.Met458Thr) rs587778018
NM_005163.2(AKT1):c.138C>A (p.Asp46Glu) rs146875699
NM_005163.2(AKT1):c.1390G>A (p.Glu464Lys)
NM_005163.2(AKT1):c.1394G>A (p.Arg465His) rs113547523
NM_005163.2(AKT1):c.142C>T (p.Arg48Cys) rs374093099
NM_005163.2(AKT1):c.1432G>A (p.Gly478Ser) rs1205616929
NM_005163.2(AKT1):c.143G>A (p.Arg48His)
NM_005163.2(AKT1):c.174G>A (p.Ala58=) rs560243859
NM_005163.2(AKT1):c.175+5G>A
NM_005163.2(AKT1):c.176-3C>G
NM_005163.2(AKT1):c.176-5C>A
NM_005163.2(AKT1):c.176-5C>T
NM_005163.2(AKT1):c.206G>A (p.Arg69Gln) rs183989506
NM_005163.2(AKT1):c.227G>A (p.Arg76His) rs771065764
NM_005163.2(AKT1):c.287+4C>T rs745831501
NM_005163.2(AKT1):c.287+5G>A rs373853807
NM_005163.2(AKT1):c.288-3C>T rs61761189
NM_005163.2(AKT1):c.356A>G (p.Asp119Gly) rs1566818099
NM_005163.2(AKT1):c.362G>A (p.Arg121Gln)
NM_005163.2(AKT1):c.406G>A (p.Val136Met) rs778376616
NM_005163.2(AKT1):c.430C>T (p.Arg144Cys)
NM_005163.2(AKT1):c.431G>A (p.Arg144His) rs1060503071
NM_005163.2(AKT1):c.436-3T>C
NM_005163.2(AKT1):c.440T>C (p.Met147Thr) rs758456890
NM_005163.2(AKT1):c.49G>A (p.Glu17Lys) rs121434592
NM_005163.2(AKT1):c.4A>G (p.Ser2Gly) rs1566826869
NM_005163.2(AKT1):c.512C>T (p.Ala171Val)
NM_005163.2(AKT1):c.520C>T (p.Arg174Cys) rs983007851
NM_005163.2(AKT1):c.545A>G (p.Lys182Arg) rs1555383695
NM_005163.2(AKT1):c.570C>T (p.Asp190=) rs780207480
NM_005163.2(AKT1):c.692A>G (p.Asn231Ser)
NM_005163.2(AKT1):c.721C>T (p.Arg241Trp) rs768606668
NM_005163.2(AKT1):c.745C>T (p.Arg249Trp)
NM_005163.2(AKT1):c.751C>T (p.Arg251Cys)
NM_005163.2(AKT1):c.763G>A (p.Ala255Thr) rs375395037
NM_005163.2(AKT1):c.770T>C (p.Ile257Thr) rs1555383511
NM_005163.2(AKT1):c.797C>T (p.Ser266Leu)
NM_005163.2(AKT1):c.798G>A (p.Ser266=) rs367635775
NM_005163.2(AKT1):c.7G>A (p.Asp3Asn) rs140532443
NM_005163.2(AKT1):c.828+10C>T rs370490407
NM_005163.2(AKT1):c.828+4C>T rs3730330
NM_005163.2(AKT1):c.828+5G>A rs1199214347
NM_005163.2(AKT1):c.828+5G>C
NM_005163.2(AKT1):c.829-4C>T
NM_005163.2(AKT1):c.907G>A (p.Gly303Ser)
NM_005163.2(AKT1):c.917T>C (p.Met306Thr) rs1555383471
NM_006218.4(PIK3CA):c.1004_1005del (p.Arg335fs) rs1553821123
NM_006218.4(PIK3CA):c.1130C>G (p.Pro377Arg) rs113613074
NM_006218.4(PIK3CA):c.1193G>A (p.Arg398His) rs748197872
NM_006218.4(PIK3CA):c.1324G>C (p.Ala442Pro)
NM_006218.4(PIK3CA):c.1342G>A (p.Val448Ile) rs201946684
NM_006218.4(PIK3CA):c.140A>G (p.His47Arg) rs190372148
NM_006218.4(PIK3CA):c.141T>G (p.His47Gln) rs768265254
NM_006218.4(PIK3CA):c.1432G>T (p.Asp478Tyr)
NM_006218.4(PIK3CA):c.1447G>C (p.Val483Leu)
NM_006218.4(PIK3CA):c.1481A>G (p.Glu494Gly) rs1060500027
NM_006218.4(PIK3CA):c.1489A>C (p.Asn497His) rs199563773
NM_006218.4(PIK3CA):c.1490A>G (p.Asn497Ser) rs753879573
NM_006218.4(PIK3CA):c.1528C>A (p.His510Asn) rs199747934
NM_006218.4(PIK3CA):c.1544A>G (p.Asn515Ser) rs201371389
NM_006218.4(PIK3CA):c.154G>C (p.Glu52Gln) rs1553820355
NM_006218.4(PIK3CA):c.1597G>A (p.Ala533Thr) rs1560144842
NM_006218.4(PIK3CA):c.1660C>T (p.His554Tyr)
NM_006218.4(PIK3CA):c.1747A>G (p.Met583Val) rs1553823608
NM_006218.4(PIK3CA):c.1766A>G (p.Asp589Gly) rs1060500028
NM_006218.4(PIK3CA):c.178C>A (p.Gln60Lys) rs71310379
NM_006218.4(PIK3CA):c.1828A>G (p.Met610Val) rs768646872
NM_006218.4(PIK3CA):c.1949T>C (p.Val650Ala) rs1553823718
NM_006218.4(PIK3CA):c.2015+4A>C rs1060500026
NM_006218.4(PIK3CA):c.2016-3T>C rs879254354
NM_006218.4(PIK3CA):c.2048G>C (p.Arg683Thr)
NM_006218.4(PIK3CA):c.2072A>G (p.Tyr691Cys)
NM_006218.4(PIK3CA):c.2077C>T (p.Arg693Cys) rs1060500029
NM_006218.4(PIK3CA):c.2080G>T (p.Ala694Ser)
NM_006218.4(PIK3CA):c.211G>A (p.Val71Ile) rs201269904
NM_006218.4(PIK3CA):c.214A>G (p.Ser72Gly) rs1560137176
NM_006218.4(PIK3CA):c.2294+5T>C
NM_006218.4(PIK3CA):c.2361_2363CAT[1] (p.Ile788del)
NM_006218.4(PIK3CA):c.2371G>T (p.Glu791Ter) rs1060500030
NM_006218.4(PIK3CA):c.2416+6G>A
NM_006218.4(PIK3CA):c.2422C>T (p.Arg808Trp) rs200671228
NM_006218.4(PIK3CA):c.2453G>A (p.Arg818His) rs371049193
NM_006218.4(PIK3CA):c.2524G>A (p.Gly842Ser) rs1560148927
NM_006218.4(PIK3CA):c.2626A>G (p.Thr876Ala)
NM_006218.4(PIK3CA):c.2651A>G (p.Lys884Arg) rs1395235750
NM_006218.4(PIK3CA):c.2666+3G>A
NM_006218.4(PIK3CA):c.2667A>G (p.Ile889Met)
NM_006218.4(PIK3CA):c.2728A>G (p.Ile910Val) rs1553825421
NM_006218.4(PIK3CA):c.2872C>A (p.Gln958Lys)
NM_006218.4(PIK3CA):c.2915C>T (p.Thr972Ile) rs1553825480
NM_006218.4(PIK3CA):c.2937-3T>C
NM_006218.4(PIK3CA):c.2975G>A (p.Arg992Gln) rs1560150481
NM_006218.4(PIK3CA):c.29_53del (p.Leu10fs) rs1560137030
NM_006218.4(PIK3CA):c.3132T>A (p.Asn1044Lys)
NM_006218.4(PIK3CA):c.317G>T (p.Gly106Val) rs1057519930
NM_006218.4(PIK3CA):c.3194A>T (p.His1065Leu) rs1560150596
NM_006218.4(PIK3CA):c.3197C>T (p.Ala1066Val)
NM_006218.4(PIK3CA):c.321_323del (p.Arg108del) rs1553820399
NM_006218.4(PIK3CA):c.327A>C (p.Glu109Asp) rs1060500031
NM_006218.4(PIK3CA):c.341A>G (p.Asn114Ser) rs746860750
NM_006218.4(PIK3CA):c.361A>G (p.Ile121Val) rs371727887
NM_006218.4(PIK3CA):c.386A>G (p.Asp129Gly) rs1553820490
NM_006218.4(PIK3CA):c.400C>T (p.Pro134Ser) rs750545881
NM_006218.4(PIK3CA):c.40C>T (p.His14Tyr)
NM_006218.4(PIK3CA):c.436G>A (p.Val146Ile) rs755969956
NM_006218.4(PIK3CA):c.466C>T (p.Leu156Phe) rs201705993
NM_006218.4(PIK3CA):c.470A>G (p.Asn157Ser)
NM_006218.4(PIK3CA):c.476C>T (p.Pro159Leu) rs200762923
NM_006218.4(PIK3CA):c.483T>C (p.Ser161=)
NM_006218.4(PIK3CA):c.559A>G (p.Lys187Glu)
NM_006218.4(PIK3CA):c.560A>C (p.Lys187Thr) rs1553820520
NM_006218.4(PIK3CA):c.563-3T>C
NM_006218.4(PIK3CA):c.623C>G (p.Thr208Ser)
NM_006218.4(PIK3CA):c.742G>A (p.Gly248Ser) rs1553820694
NM_006218.4(PIK3CA):c.764G>A (p.Cys255Tyr) rs1060500032
NM_006218.4(PIK3CA):c.817A>G (p.Ile273Val)
NM_006218.4(PIK3CA):c.851dup (p.Asn284fs)
NM_006218.4(PIK3CA):c.931A>G (p.Ile311Val) rs201238717
NM_006218.4(PIK3CA):c.946C>A (p.Pro316Thr)
NM_006218.4(PIK3CA):c.954G>A (p.Met318Ile)
NM_006218.4(PIK3CA):c.995G>T (p.Ser332Ile) rs1262394031
NM_006363.6(SEC23B):c.1233+4C>T
NM_006363.6(SEC23B):c.1665+6T>C
NM_006363.6(SEC23B):c.2129C>T (p.Thr710Met)
NM_006363.6(SEC23B):c.490G>T (p.Val164Leu) rs36023150
NM_006363.6(SEC23B):c.890C>T (p.Thr297Ile)
NM_006363.6(SEC23B):c.985G>T (p.Ala329Ser)
NM_021930.6(RINT1):c.1447A>G (p.Met483Val) rs869312982
NM_021930.6(RINT1):c.1671_1671+2del rs869312981

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.