ClinVar Miner

List of variants in gene PTEN reported as pathogenic by GeneDx

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Gene type:
ClinVar version:
Total variants: 109
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HGVS dbSNP
NM_000314.7(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.7(PTEN):c.1027-1G>A rs1057517809
NM_000314.7(PTEN):c.1027-2A>G rs1085308041
NM_000314.7(PTEN):c.1029_1039del (p.Lys344fs) rs1064796236
NM_000314.7(PTEN):c.164+1G>T rs1554893835
NM_000314.7(PTEN):c.165-1G>A rs786203847
NM_000314.7(PTEN):c.165-2A>G rs1085308043
NM_000314.7(PTEN):c.19_20GA[1] (p.Glu7fs) rs786204881
NM_000314.7(PTEN):c.202T>C (p.Tyr68His) rs398123317
NM_000314.7(PTEN):c.209+1G>A rs1554897280
NM_000314.7(PTEN):c.210-1G>A rs1114167621
NM_000314.7(PTEN):c.21_37del (p.Ile8fs) rs786204882
NM_000314.7(PTEN):c.228T>G (p.Tyr76Ter) rs1554897866
NM_000314.7(PTEN):c.253+1G>A rs587776667
NM_000314.7(PTEN):c.253+1G>T rs587776667
NM_000314.7(PTEN):c.254-1G>A rs1057520208
NM_000314.7(PTEN):c.254-2A>G rs786204926
NM_000314.7(PTEN):c.264T>A (p.Tyr88Ter) rs1554898056
NM_000314.7(PTEN):c.271_272delinsTTT (p.Glu91fs) rs1085307891
NM_000314.7(PTEN):c.286C>G (p.Pro96Ala) rs398123320
NM_000314.7(PTEN):c.286C>T (p.Pro96Ser) rs398123320
NM_000314.7(PTEN):c.289C>T (p.Gln97Ter) rs786204928
NM_000314.7(PTEN):c.313_314TG[3] (p.Glu106fs) rs1554898090
NM_000314.7(PTEN):c.318del (p.Asp107fs) rs1554898092
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.335T>C (p.Leu112Pro) rs121909230
NM_000314.7(PTEN):c.352_353del (p.His118fs) rs876661060
NM_000314.7(PTEN):c.367C>T (p.His123Tyr) rs786204931
NM_000314.7(PTEN):c.368A>G (p.His123Arg) rs121909222
NM_000314.7(PTEN):c.370T>C (p.Cys124Arg) rs121909223
NM_000314.7(PTEN):c.380del (p.Gly127fs) rs1554898132
NM_000314.7(PTEN):c.385G>A (p.Gly129Arg) rs786204929
NM_000314.7(PTEN):c.386G>A (p.Gly129Glu) rs121909218
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.389G>T (p.Arg130Leu) rs121909229
NM_000314.7(PTEN):c.392_393dup (p.Gly132fs) rs886041816
NM_000314.7(PTEN):c.395G>T (p.Gly132Val) rs121909241
NM_000314.7(PTEN):c.39_40del (p.Arg14fs) rs587776671
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.414T>G (p.Tyr138Ter) rs1554898161
NM_000314.7(PTEN):c.430A>T (p.Lys144Ter) rs1057520622
NM_000314.7(PTEN):c.437T>A (p.Leu146Ter) rs786204933
NM_000314.7(PTEN):c.45A>T (p.Arg15Ser) rs1064794096
NM_000314.7(PTEN):c.47dup (p.Tyr16Ter) rs876661009
NM_000314.7(PTEN):c.48T>A (p.Tyr16Ter) rs587782187
NM_000314.7(PTEN):c.492+2T>C rs1554898244
NM_000314.7(PTEN):c.493-1G>A rs786204862
NM_000314.7(PTEN):c.493-2A>G rs587781784
NM_000314.7(PTEN):c.493G>A (p.Gly165Arg) rs587782603
NM_000314.7(PTEN):c.511C>T (p.Gln171Ter) rs786204864
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.547_549delinsT (p.Leu182_Lys183insTer) rs786204890
NM_000314.7(PTEN):c.578T>C (p.Leu193Pro) rs1554900620
NM_000314.7(PTEN):c.633C>G (p.Cys211Trp) rs121909232
NM_000314.7(PTEN):c.634+5G>A rs138336847
NM_000314.7(PTEN):c.635-1G>C rs876661024
NM_000314.7(PTEN):c.640C>T (p.Gln214Ter) rs121909227
NM_000314.7(PTEN):c.675T>G (p.Tyr225Ter) rs1057520900
NM_000314.7(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.7(PTEN):c.70G>T (p.Asp24Tyr) rs786201995
NM_000314.7(PTEN):c.70del (p.Asp24fs) rs1554890405
NM_000314.7(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000314.7(PTEN):c.739_740insAT (p.Leu247fs) rs786204902
NM_000314.7(PTEN):c.740T>G (p.Leu247Ter) rs1057519368
NM_000314.7(PTEN):c.741dup (p.Pro248fs) rs587782341
NM_000314.7(PTEN):c.744del (p.Val249fs) rs1554825224
NM_000314.7(PTEN):c.750T>A (p.Cys250Ter) rs767623493
NM_000314.7(PTEN):c.758_761del (p.Ile253fs) rs786204903
NM_000314.7(PTEN):c.763dup (p.Val255fs) rs1554825240
NM_000314.7(PTEN):c.771_772del (p.Phe258fs) rs786204904
NM_000314.7(PTEN):c.781C>T (p.Gln261Ter) rs730882131
NM_000314.7(PTEN):c.80-1G>C rs786204914
NM_000314.7(PTEN):c.800del (p.Lys267fs) rs121913289
NM_000314.7(PTEN):c.801+1G>A rs786204873
NM_000314.7(PTEN):c.802-2A>T rs587782455
NM_000314.7(PTEN):c.80A>C (p.Tyr27Ser) rs886041877
NM_000314.7(PTEN):c.822G>A (p.Trp274Ter) rs587782607
NM_000314.7(PTEN):c.865_866insTTCT (p.Lys289fs) rs1554825530
NM_000314.7(PTEN):c.870del (p.Glu291fs) rs886041332
NM_000314.7(PTEN):c.875del (p.Asn292fs) rs786204905
NM_000314.7(PTEN):c.875dup (p.Asn292fs) rs786204905
NM_000314.7(PTEN):c.884_885insTT (p.Cys296fs) rs587780006
NM_000314.7(PTEN):c.884dup (p.Cys296fs) rs587780006
NM_000314.7(PTEN):c.892C>T (p.Gln298Ter) rs371387815
NM_000314.7(PTEN):c.892del (p.Gln298fs) rs786204884
NM_000314.7(PTEN):c.899_903del (p.Ile300fs) rs1064796067
NM_000314.7(PTEN):c.919G>T (p.Glu307Ter) rs746930141
NM_000314.7(PTEN):c.928_929insGTGCA (p.Asp310fs) rs786204906
NM_000314.7(PTEN):c.945T>A (p.Tyr315Ter) rs876661058
NM_000314.7(PTEN):c.947del (p.Leu316fs) rs1085307612
NM_000314.7(PTEN):c.955dup (p.Thr319fs) rs786204892
NM_000314.7(PTEN):c.964A>T (p.Lys322Ter) rs786202004
NM_000314.7(PTEN):c.968dup (p.Asn323fs) rs121913291
NM_000314.7(PTEN):c.987_990del (p.Asn329fs) rs587782304
NM_001304718.2(PTEN):c.-260del rs786204900
NM_001304718.2(PTEN):c.-346dup rs398123323
NM_001304718.2(PTEN):c.-430del rs786204899
NM_001304718.2(PTEN):c.-532_-529dup rs786204898
NM_001304718.2(PTEN):c.-589del rs786204895
NM_001304718.2(PTEN):c.-621_-618del rs786204894
NM_001304718.2(PTEN):c.-656_-655del rs587781912
NM_001304718.2(PTEN):c.-660dup rs786204883
NM_001304718.2(PTEN):c.-689_-688del rs121913290
NM_001304718.2(PTEN):c.-7del rs786204901
NM_001304718.2(PTEN):c.-7dup rs786204901

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