ClinVar Miner

List of variants in gene PTEN reported as pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 216
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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.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.1026+1G>A rs786201041
NM_000314.8(PTEN):c.1026+1G>T rs786201041
NM_000314.8(PTEN):c.1027-1G>A rs1057517809
NM_000314.8(PTEN):c.1027-2A>G rs1085308041
NM_000314.8(PTEN):c.1029_1039del (p.Lys344fs) rs1064796236
NM_000314.8(PTEN):c.103A>G (p.Met35Val) rs876659443
NM_000314.8(PTEN):c.107G>A (p.Gly36Glu) rs1554893792
NM_000314.8(PTEN):c.113C>G (p.Pro38Arg) rs1064796886
NM_000314.8(PTEN):c.113C>T (p.Pro38Leu) rs1064796886
NM_000314.8(PTEN):c.116C>T (p.Ala39Val)
NM_000314.8(PTEN):c.131G>A (p.Gly44Asp) rs1085308042
NM_000314.8(PTEN):c.155_156insCT (p.Val53fs) rs1859099759
NM_000314.8(PTEN):c.164+1G>T rs1554893835
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>G rs1085308043
NM_000314.8(PTEN):c.16A>G (p.Lys6Glu) rs1589596143
NM_000314.8(PTEN):c.176C>A (p.Ser59Ter) rs1060500116
NM_000314.8(PTEN):c.17_18del (p.Lys6fs) rs121913290
NM_000314.8(PTEN):c.191A>C (p.His64Pro)
NM_000314.8(PTEN):c.198G>T (p.Lys66Asn) rs2132232321
NM_000314.8(PTEN):c.19G>T (p.Glu7Ter) rs1554890335
NM_000314.8(PTEN):c.1A>G (p.Met1Val) rs1554890324
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.209+1G>A rs1554897280
NM_000314.8(PTEN):c.209+2T>C rs878853937
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+5G>C rs1114167650
NM_000314.8(PTEN):c.210-1G>A rs1114167621
NM_000314.8(PTEN):c.212G>A (p.Cys71Tyr) rs1554897856
NM_000314.8(PTEN):c.21_22del (p.Glu7fs) rs786204881
NM_000314.8(PTEN):c.228T>A (p.Tyr76Ter)
NM_000314.8(PTEN):c.228T>G (p.Tyr76Ter) rs1554897866
NM_000314.8(PTEN):c.253+1G>A rs587776667
NM_000314.8(PTEN):c.253+1G>T rs587776667
NM_000314.8(PTEN):c.253+5G>T rs1554897889
NM_000314.8(PTEN):c.254-1G>A rs1057520208
NM_000314.8(PTEN):c.254-2A>G rs786204926
NM_000314.8(PTEN):c.264T>A (p.Tyr88Ter) rs1554898056
NM_000314.8(PTEN):c.265_274dup (p.Asp92delinsAlaPheTer) rs2132242075
NM_000314.8(PTEN):c.271_272delinsTTT (p.Glu91fs) rs1085307891
NM_000314.8(PTEN):c.274G>T (p.Asp92Tyr) rs1554898067
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.286C>G (p.Pro96Ala) rs398123320
NM_000314.8(PTEN):c.286C>T (p.Pro96Ser) rs398123320
NM_000314.8(PTEN):c.287C>T (p.Pro96Leu) rs1554898074
NM_000314.8(PTEN):c.302T>A (p.Ile101Asn) rs1339631701
NM_000314.8(PTEN):c.302T>C (p.Ile101Thr) rs1339631701
NM_000314.8(PTEN):c.306del (p.Lys102fs) rs587782641
NM_000314.8(PTEN):c.315_316dup (p.Glu106fs) rs1554898090
NM_000314.8(PTEN):c.318del (p.Asp107fs) rs1554898092
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.331T>C (p.Trp111Arg) rs398123321
NM_000314.8(PTEN):c.333G>A (p.Trp111Ter) rs1554898097
NM_000314.8(PTEN):c.335T>C (p.Leu112Pro) rs121909230
NM_000314.8(PTEN):c.346_358dup (p.Ala120fs) rs1064792910
NM_000314.8(PTEN):c.352_353del (p.His118fs) rs876661060
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.370T>C (p.Cys124Arg) rs121909223
NM_000314.8(PTEN):c.378del (p.Gly127fs)
NM_000314.8(PTEN):c.379G>T (p.Gly127Ter) rs587781255
NM_000314.8(PTEN):c.380del (p.Gly127fs) rs1554898132
NM_000314.8(PTEN):c.385G>A (p.Gly129Arg) rs786204929
NM_000314.8(PTEN):c.386G>A (p.Gly129Glu) rs121909218
NM_000314.8(PTEN):c.386_387delinsTT (p.Gly129Val) rs1554898141
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>T (p.Arg130Leu) rs121909229
NM_000314.8(PTEN):c.392_393dup (p.Gly132fs) rs886041816
NM_000314.8(PTEN):c.392dup (p.Gly132fs) rs1859976874
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.39_40del (p.Arg14fs) rs587776671
NM_000314.8(PTEN):c.400A>G (p.Met134Val)
NM_000314.8(PTEN):c.403A>G (p.Ile135Val) rs587782360
NM_000314.8(PTEN):c.405dup (p.Cys136fs) rs398123323
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.408T>G (p.Cys136Trp) rs869312776
NM_000314.8(PTEN):c.40del (p.Arg14fs)
NM_000314.8(PTEN):c.40dup (p.Arg14fs) rs587776671
NM_000314.8(PTEN):c.414T>G (p.Tyr138Ter) rs1554898161
NM_000314.8(PTEN):c.422A>C (p.His141Pro) rs863224666
NM_000314.8(PTEN):c.430A>T (p.Lys144Ter) rs1057520622
NM_000314.8(PTEN):c.437T>A (p.Leu146Ter) rs786204933
NM_000314.8(PTEN):c.445C>T (p.Gln149Ter) rs1060500122
NM_000314.8(PTEN):c.44_45del (p.Arg15fs) rs1057524874
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.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.8(PTEN):c.473_474del (p.Val158fs) rs2132244024
NM_000314.8(PTEN):c.476G>A (p.Arg159Lys) rs1114167673
NM_000314.8(PTEN):c.47dup (p.Tyr16Ter) rs876661009
NM_000314.8(PTEN):c.48T>A (p.Tyr16Ter) rs587782187
NM_000314.8(PTEN):c.491del (p.Lys164fs) rs786204900
NM_000314.8(PTEN):c.492+1G>A rs1554898242
NM_000314.8(PTEN):c.492+1G>C rs1554898242
NM_000314.8(PTEN):c.492+1G>T rs1554898242
NM_000314.8(PTEN):c.492+2T>C rs1554898244
NM_000314.8(PTEN):c.492+2T>G rs1554898244
NM_000314.8(PTEN):c.493-1G>A rs786204862
NM_000314.8(PTEN):c.493-1G>C rs786204862
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>T (p.Gly165Ter) rs587782603
NM_000314.8(PTEN):c.494G>T (p.Gly165Val) rs786204863
NM_000314.8(PTEN):c.49C>G (p.Gln17Glu) rs786204910
NM_000314.8(PTEN):c.50_51del (p.Gln17fs) rs587781912
NM_000314.8(PTEN):c.510T>G (p.Ser170Arg) rs121909221
NM_000314.8(PTEN):c.511C>A (p.Gln171Lys) rs786204864
NM_000314.8(PTEN):c.511C>T (p.Gln171Ter) rs786204864
NM_000314.8(PTEN):c.516del (p.Arg172fs) rs1860417110
NM_000314.8(PTEN):c.517C>G (p.Arg173Gly) rs121913293
NM_000314.8(PTEN):c.518G>C (p.Arg173Pro) rs121913294
NM_000314.8(PTEN):c.521A>G (p.Tyr174Cys) rs864622341
NM_000314.8(PTEN):c.531T>G (p.Tyr177Ter) rs878853012
NM_000314.8(PTEN):c.545T>G (p.Leu182Ter) rs794729664
NM_000314.8(PTEN):c.547_549delinsT (p.Leu182_Lys183insTer) rs786204890
NM_000314.8(PTEN):c.548dup (p.Asn184fs) rs1554900593
NM_000314.8(PTEN):c.551dup (p.Asn184fs) rs1554900606
NM_000314.8(PTEN):c.565A>T (p.Arg189Ter) rs1554900615
NM_000314.8(PTEN):c.578T>C (p.Leu193Pro) rs1554900620
NM_000314.8(PTEN):c.585dup (p.His196fs) rs786204901
NM_000314.8(PTEN):c.589A>T (p.Lys197Ter)
NM_000314.8(PTEN):c.598_601del (p.Phe200fs) rs2132269733
NM_000314.8(PTEN):c.601G>T (p.Glu201Ter) rs1554900638
NM_000314.8(PTEN):c.610C>T (p.Pro204Ser) rs786204868
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>T rs1114167622
NM_000314.8(PTEN):c.634+2T>G rs727504114
NM_000314.8(PTEN):c.634+5G>A rs138336847
NM_000314.8(PTEN):c.635-1G>A rs876661024
NM_000314.8(PTEN):c.635-1G>C rs876661024
NM_000314.8(PTEN):c.635-2A>G rs1564566706
NM_000314.8(PTEN):c.640C>T (p.Gln214Ter) rs121909227
NM_000314.8(PTEN):c.64G>T (p.Asp22Tyr) rs876660420
NM_000314.8(PTEN):c.654C>A (p.Cys218Ter) rs1554825165
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.675T>G (p.Tyr225Ter) rs1057520900
NM_000314.8(PTEN):c.686C>G (p.Ser229Ter) rs1214965807
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.8(PTEN):c.69dup (p.Asp24fs) rs1589596415
NM_000314.8(PTEN):c.70G>A (p.Asp24Asn) rs786201995
NM_000314.8(PTEN):c.70G>T (p.Asp24Tyr) rs786201995
NM_000314.8(PTEN):c.70del (p.Asp24fs) rs1554890405
NM_000314.8(PTEN):c.71A>G (p.Asp24Gly) rs797044910
NM_000314.8(PTEN):c.722T>C (p.Phe241Ser) rs121909240
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.740T>G (p.Leu247Ter) rs1057519368
NM_000314.8(PTEN):c.741dup (p.Pro248fs) rs587782341
NM_000314.8(PTEN):c.744del (p.Val249fs) rs1554825224
NM_000314.8(PTEN):c.748_751dup (p.Gly251fs) rs780264945
NM_000314.8(PTEN):c.750T>A (p.Cys250Ter) rs767623493
NM_000314.8(PTEN):c.755A>G (p.Asp252Gly) rs121909239
NM_000314.8(PTEN):c.763dup (p.Val255fs) rs1554825240
NM_000314.8(PTEN):c.76A>C (p.Thr26Pro) rs876661010
NM_000314.8(PTEN):c.781C>T (p.Gln261Ter) rs730882131
NM_000314.8(PTEN):c.799_800insTT (p.Lys267fs) rs1860552294
NM_000314.8(PTEN):c.80-1G>C rs786204914
NM_000314.8(PTEN):c.80-1_80del rs1554893747
NM_000314.8(PTEN):c.800del (p.Lys267fs) rs121913289
NM_000314.8(PTEN):c.801+1G>A rs786204873
NM_000314.8(PTEN):c.801+1G>T rs786204873
NM_000314.8(PTEN):c.802-1G>A rs1257124719
NM_000314.8(PTEN):c.802-2A>G rs587782455
NM_000314.8(PTEN):c.80A>C (p.Tyr27Ser) rs886041877
NM_000314.8(PTEN):c.80A>T (p.Tyr27Phe)
NM_000314.8(PTEN):c.822G>A (p.Trp274Ter) rs587782607
NM_000314.8(PTEN):c.827del (p.Asn276fs) rs886044679
NM_000314.8(PTEN):c.830C>T (p.Thr277Ile) rs398123329
NM_000314.8(PTEN):c.833del (p.Phe278fs)
NM_000314.8(PTEN):c.849_858del (p.Glu284fs)
NM_000314.8(PTEN):c.865_866insTTCT (p.Lys289fs) rs1554825530
NM_000314.8(PTEN):c.867dup (p.Val290fs)
NM_000314.8(PTEN):c.870del (p.Glu291fs) rs886041332
NM_000314.8(PTEN):c.875del (p.Asn292fs) rs786204905
NM_000314.8(PTEN):c.875dup (p.Asn292fs) rs786204905
NM_000314.8(PTEN):c.884dup (p.Cys296fs) rs587780006
NM_000314.8(PTEN):c.885_886del (p.Leu295_Cys296insTer) rs1564568350
NM_000314.8(PTEN):c.892C>T (p.Gln298Ter) rs371387815
NM_000314.8(PTEN):c.899_903del (p.Ile300fs) rs1064796067
NM_000314.8(PTEN):c.900del (p.Ile300fs) rs797045904
NM_000314.8(PTEN):c.912C>A (p.Cys304Ter) rs2132282639
NM_000314.8(PTEN):c.915del (p.Ser305fs) rs1589665953
NM_000314.8(PTEN):c.919G>T (p.Glu307Ter) rs746930141
NM_000314.8(PTEN):c.91A>G (p.Asn31Asp) rs1859093459
NM_000314.8(PTEN):c.929del (p.Asp310fs) rs1589665989
NM_000314.8(PTEN):c.945T>A (p.Tyr315Ter) rs876661058
NM_000314.8(PTEN):c.947del (p.Leu316fs) rs1085307612
NM_000314.8(PTEN):c.94ATT[1] (p.Ile33del) rs1554893765
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.959T>C (p.Leu320Ser) rs1114167667
NM_000314.8(PTEN):c.964A>T (p.Lys322Ter) rs786202004
NM_000314.8(PTEN):c.968dup (p.Asn323fs) rs121913291
NM_000314.8(PTEN):c.976G>A (p.Asp326Asn)
NM_000314.8(PTEN):c.987_990del (p.Asn329fs) rs587782304

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