ClinVar Miner

List of variants in gene PTEN reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 528
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.1026+219C>T rs2736627 0.92008
NM_000314.8(PTEN):c.1026+32T>G rs555895 0.40232
NM_000314.8(PTEN):c.80-96A>G rs1903858 0.38960
NM_000314.8(PTEN):c.254-316T>C rs34973022 0.02173
NM_000314.8(PTEN):c.802-207T>C rs147038309 0.02001
NM_000314.8(PTEN):c.1026+121C>T rs536465299 0.01737
NM_000314.8(PTEN):c.492+217C>T rs35560700 0.01599
NM_000314.8(PTEN):c.492+292T>C rs34826144 0.01411
NM_000314.8(PTEN):c.-165C>G rs575260016 0.00267
NM_000314.8(PTEN):c.209+84G>A rs185262832 0.00199
NM_000314.8(PTEN):c.802-23C>T rs908719077 0.00192
NM_000314.8(PTEN):c.*216A>G rs558365328 0.00183
NM_000314.8(PTEN):c.210-39A>G rs370918174 0.00177
NM_000314.8(PTEN):c.132C>T (p.Gly44=) rs150651961 0.00168
NM_000314.8(PTEN):c.634+136G>A rs149607752 0.00165
NM_000314.8(PTEN):c.1104T>C (p.Asp368=) rs35979531 0.00158
NM_000314.8(PTEN):c.-9C>G rs11202592 0.00139
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584 0.00029
NM_000314.8(PTEN):c.-701G>A rs1554890059 0.00019
NM_000314.8(PTEN):c.234C>T (p.Thr78=) rs35917308 0.00016
NM_000314.8(PTEN):c.802-12T>C rs587781129 0.00015
NM_000314.8(PTEN):c.-734G>A rs786205432 0.00013
NM_000314.8(PTEN):c.1197A>G (p.Gln399=) rs374684043 0.00012
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_000314.8(PTEN):c.579G>A (p.Leu193=) rs568851024 0.00010
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) rs371387815 0.00009
NM_000314.8(PTEN):c.-714G>A rs587779989 0.00006
NM_000314.8(PTEN):c.720C>T (p.Tyr240=) rs190070312 0.00006
NM_000314.8(PTEN):c.*5T>C rs1006891299 0.00005
NM_000314.8(PTEN):c.802-2A>T rs587782455 0.00005
NM_000314.8(PTEN):c.*10T>A rs769236743 0.00004
NM_000314.8(PTEN):c.-28C>T rs764917503 0.00003
NM_000314.8(PTEN):c.-731C>T rs886039462 0.00003
NM_000314.8(PTEN):c.-742G>A rs876661008 0.00003
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_000314.8(PTEN):c.254-37T>C rs767612524 0.00003
NM_000314.8(PTEN):c.492G>A (p.Lys164=) rs146629065 0.00003
NM_000314.8(PTEN):c.635-16G>A rs750772657 0.00003
NM_000314.8(PTEN):c.801+18A>T rs777679092 0.00003
NM_000314.8(PTEN):c.855A>G (p.Glu285=) rs751888926 0.00003
NM_000314.8(PTEN):c.-26T>C rs750098228 0.00002
NM_000314.8(PTEN):c.-704G>C rs1251019969 0.00002
NM_000314.8(PTEN):c.-728C>T rs786204870 0.00002
NM_000314.8(PTEN):c.-765G>A rs587776674 0.00002
NM_000314.8(PTEN):c.1078A>G (p.Ser360Gly) rs587781273 0.00002
NM_000314.8(PTEN):c.261A>G (p.Gln87=) rs149772796 0.00002
NM_000314.8(PTEN):c.411A>G (p.Ala137=) rs144545031 0.00002
NM_000314.8(PTEN):c.456A>G (p.Leu152=) rs779626613 0.00002
NM_000314.8(PTEN):c.900C>T (p.Ile300=) rs550122918 0.00002
NM_000314.8(PTEN):c.-15C>T rs1064793241 0.00001
NM_000314.8(PTEN):c.-692C>T rs1554890066 0.00001
NM_000314.8(PTEN):c.-732G>C rs1399617046 0.00001
NM_000314.8(PTEN):c.-740G>A rs888482160 0.00001
NM_000314.8(PTEN):c.-741C>T rs1310141519 0.00001
NM_000314.8(PTEN):c.-768G>T rs587779991 0.00001
NM_000314.8(PTEN):c.-770G>A rs1255704947 0.00001
NM_000314.8(PTEN):c.1008C>T (p.Tyr336=) rs786201816 0.00001
NM_000314.8(PTEN):c.1062G>A (p.Pro354=) rs786202751 0.00001
NM_000314.8(PTEN):c.1093G>A (p.Val365Ile) rs758542021 0.00001
NM_000314.8(PTEN):c.114T>G (p.Pro38=) rs748040144 0.00001
NM_000314.8(PTEN):c.1171C>T (p.Pro391Ser) rs786203911 0.00001
NM_000314.8(PTEN):c.1206A>C (p.Lys402Asn) rs1064796017 0.00001
NM_000314.8(PTEN):c.164+12T>C rs1057521654 0.00001
NM_000314.8(PTEN):c.210-12C>T rs766570103 0.00001
NM_000314.8(PTEN):c.210-17T>C rs750987148 0.00001
NM_000314.8(PTEN):c.210-9T>C rs751744545 0.00001
NM_000314.8(PTEN):c.253+14T>A rs1057520635 0.00001
NM_000314.8(PTEN):c.254-17T>G rs1057520819 0.00001
NM_000314.8(PTEN):c.258A>G (p.Ala86=) rs587780710 0.00001
NM_000314.8(PTEN):c.288A>G (p.Pro96=) rs746661067 0.00001
NM_000314.8(PTEN):c.289C>T (p.Gln97Ter) rs786204928 0.00001
NM_000314.8(PTEN):c.321T>C (p.Asp107=) rs372876243 0.00001
NM_000314.8(PTEN):c.349A>C (p.Asn117His) rs771310592 0.00001
NM_000314.8(PTEN):c.350A>G (p.Asn117Ser) rs551221430 0.00001
NM_000314.8(PTEN):c.360A>C (p.Ala120=) rs759485888 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000314.8(PTEN):c.425G>A (p.Arg142Gln) rs753630034 0.00001
NM_000314.8(PTEN):c.48T>C (p.Tyr16=) rs587782187 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.527A>G (p.Tyr176Cys) rs757498880 0.00001
NM_000314.8(PTEN):c.613A>G (p.Met205Val) rs776763121 0.00001
NM_000314.8(PTEN):c.635-14A>G rs758742080 0.00001
NM_000314.8(PTEN):c.673T>C (p.Tyr225His) rs876659433 0.00001
NM_000314.8(PTEN):c.693C>T (p.Pro231=) rs1064795327 0.00001
NM_000314.8(PTEN):c.711G>A (p.Lys237=) rs773353820 0.00001
NM_000314.8(PTEN):c.723T>C (p.Phe241=) rs17849090 0.00001
NM_000314.8(PTEN):c.738G>A (p.Pro246=) rs774364894 0.00001
NM_000314.8(PTEN):c.75G>A (p.Leu25=) rs786201506 0.00001
NM_000314.8(PTEN):c.783G>A (p.Gln261=) rs760146269 0.00001
NM_000314.8(PTEN):c.78C>T (p.Thr26=) rs786201280 0.00001
NM_000314.8(PTEN):c.79+7A>G rs374331677 0.00001
NM_000314.8(PTEN):c.80-11A>G rs776590293 0.00001
NM_000314.8(PTEN):c.802-17T>C rs1057520419 0.00001
NM_000314.8(PTEN):c.841C>G (p.Pro281Ala) rs750705904 0.00001
NM_000314.8(PTEN):c.885A>G (p.Leu295=) rs587780713 0.00001
NM_000314.8(PTEN):c.887G>A (p.Cys296Tyr) rs1060500121 0.00001
NM_000314.8(PTEN):c.93C>T (p.Asn31=) rs1170214930 0.00001
NM_000314.8(PTEN):c.956C>T (p.Thr319Ile) rs761350690 0.00001
NM_000314.4:c.-(1087_1062)delGCTCGCACCCAGAGCTACCGCTCTGC
NM_000314.4:c.-(903_882)dupGGGACTCTTTATGCGCTGCGGC
NM_000314.8(PTEN):c.*10del rs756681683
NM_000314.8(PTEN):c.*10dup rs756681683
NM_000314.8(PTEN):c.*13C>T rs1259242831
NM_000314.8(PTEN):c.*6T>C rs1064794975
NM_000314.8(PTEN):c.*7T>G rs1064794700
NM_000314.8(PTEN):c.-12A>T rs753142719
NM_000314.8(PTEN):c.-14A>G rs755295390
NM_000314.8(PTEN):c.-16C>T rs1064793804
NM_000314.8(PTEN):c.-17G>T rs1064793744
NM_000314.8(PTEN):c.-17_-14del rs1064794174
NM_000314.8(PTEN):c.-1C>T rs770965327
NM_000314.8(PTEN):c.-25T>C rs786204909
NM_000314.8(PTEN):c.-32C>T rs376610243
NM_000314.8(PTEN):c.-32CCT[1] rs749497048
NM_000314.8(PTEN):c.-33T>C rs1858391081
NM_000314.8(PTEN):c.-39TC[2] rs1064795965
NM_000314.8(PTEN):c.-448C>T rs2132142738
NM_000314.8(PTEN):c.-500GGC[7] rs1237307954
NM_000314.8(PTEN):c.-546GGC[6] rs34413673
NM_000314.8(PTEN):c.-696C>G rs1554890065
NM_000314.8(PTEN):c.-720G>A rs960387107
NM_000314.8(PTEN):c.-721C>T rs1554890055
NM_000314.8(PTEN):c.-729C>T rs1554890049
NM_000314.8(PTEN):c.-730C>G rs786204869
NM_000314.8(PTEN):c.-734dup rs786204891
NM_000314.8(PTEN):c.-735G>A rs886047384
NM_000314.8(PTEN):c.-735G>C rs886047384
NM_000314.8(PTEN):c.-744C>T rs1554890027
NM_000314.8(PTEN):c.-749G>A rs994757335
NM_000314.8(PTEN):c.-753C>T rs1554890025
NM_000314.8(PTEN):c.-754A>G rs1554890021
NM_000314.8(PTEN):c.-764G>A rs876661267
NM_000314.8(PTEN):c.-777G>C rs1064795132
NM_000314.8(PTEN):c.-7C>T rs1064795131
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.1018A>C (p.Asn340His) rs759852661
NM_000314.8(PTEN):c.1025A>C (p.Lys342Thr) rs1064794080
NM_000314.8(PTEN):c.1026+10A>G rs767777911
NM_000314.8(PTEN):c.1026+1G>A rs786201041
NM_000314.8(PTEN):c.1026+20T>G rs753190893
NM_000314.8(PTEN):c.1026G>A (p.Lys342=) rs398123314
NM_000314.8(PTEN):c.1027-12T>G rs1057521732
NM_000314.8(PTEN):c.1027-17A>T rs1057520355
NM_000314.8(PTEN):c.1027-1G>A rs1057517809
NM_000314.8(PTEN):c.1027-2A>G rs1085308041
NM_000314.8(PTEN):c.1027-4C>G rs587782788
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.1052_1054del (p.Val351del) rs587780003
NM_000314.8(PTEN):c.105G>A (p.Met35Ile) rs1554893782
NM_000314.8(PTEN):c.105_106delinsAC (p.Met35_Gly36delinsIleArg) rs786202517
NM_000314.8(PTEN):c.1061C>T (p.Pro354Leu) rs375709098
NM_000314.8(PTEN):c.1066A>T (p.Asn356Tyr) rs587782345
NM_000314.8(PTEN):c.1069C>A (p.Pro357Thr) rs876661264
NM_000314.8(PTEN):c.1074G>C (p.Glu358Asp) rs876659464
NM_000314.8(PTEN):c.1075G>T (p.Ala359Ser) rs864622594
NM_000314.8(PTEN):c.1076C>T (p.Ala359Val) rs2132289511
NM_000314.8(PTEN):c.107G>A (p.Gly36Glu) rs1554893792
NM_000314.8(PTEN):c.1088C>T (p.Thr363Ile) rs750585255
NM_000314.8(PTEN):c.1098A>C (p.Thr366=) rs1554826045
NM_000314.8(PTEN):c.10A>G (p.Ile4Val)
NM_000314.8(PTEN):c.1105G>A (p.Val369Ile) rs587782224
NM_000314.8(PTEN):c.1125T>C (p.Asp375=) rs1057524567
NM_000314.8(PTEN):c.1126C>T (p.His376Tyr)
NM_000314.8(PTEN):c.112C>T (p.Pro38Ser) rs587780004
NM_000314.8(PTEN):c.1133G>C (p.Arg378Thr)
NM_000314.8(PTEN):c.1133_1136del (p.Arg378fs) rs1064794878
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.1161A>G (p.Pro387=) rs1057523975
NM_000314.8(PTEN):c.1168G>T (p.Glu390Ter) rs2132290171
NM_000314.8(PTEN):c.1169A>G (p.Glu390Gly)
NM_000314.8(PTEN):c.116C>T (p.Ala39Val)
NM_000314.8(PTEN):c.1170A>G (p.Glu390=) rs1057524010
NM_000314.8(PTEN):c.117del (p.Glu40fs) rs786204895
NM_000314.8(PTEN):c.1190A>G (p.His397Arg) rs876661021
NM_000314.8(PTEN):c.1197A>T (p.Gln399His) rs374684043
NM_000314.8(PTEN):c.1198A>G (p.Ile400Val) rs863224665
NM_000314.8(PTEN):c.1212A>G (p.Ter404Trp) rs876660879
NM_000314.8(PTEN):c.126_128dup (p.Leu42_Glu43insAsp) rs786204896
NM_000314.8(PTEN):c.136T>G (p.Tyr46Asp) rs1064793325
NM_000314.8(PTEN):c.140G>A (p.Arg47Lys) rs1057518425
NM_000314.8(PTEN):c.156T>G (p.Asp52Glu)
NM_000314.8(PTEN):c.160G>A (p.Val54Ile) rs786204916
NM_000314.8(PTEN):c.164+1G>T rs1554893835
NM_000314.8(PTEN):c.165-17G>C rs898943632
NM_000314.8(PTEN):c.165-1G>A rs786203847
NM_000314.8(PTEN):c.165-24TTTG[2] rs786204877
NM_000314.8(PTEN):c.165-2A>G rs1085308043
NM_000314.8(PTEN):c.165-7T>C rs572375431
NM_000314.8(PTEN):c.165-8_165-4del rs760571273
NM_000314.8(PTEN):c.169T>G (p.Leu57Val) rs2132232119
NM_000314.8(PTEN):c.16A>G (p.Lys6Glu) rs1589596143
NM_000314.8(PTEN):c.173A>G (p.Asp58Gly) rs1131691885
NM_000314.8(PTEN):c.174T>C (p.Asp58=) rs769719835
NM_000314.8(PTEN):c.17_18del (p.Lys6fs) rs121913290
NM_000314.8(PTEN):c.188A>C (p.Asn63Thr)
NM_000314.8(PTEN):c.191A>C (p.His64Pro)
NM_000314.8(PTEN):c.196A>G (p.Lys66Glu)
NM_000314.8(PTEN):c.198G>T (p.Lys66Asn) rs2132232321
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.206A>G (p.Asn69Ser) rs786204922
NM_000314.8(PTEN):c.209+17A>G rs1057520524
NM_000314.8(PTEN):c.209+1G>A rs1554897280
NM_000314.8(PTEN):c.209+2T>C rs878853937
NM_000314.8(PTEN):c.209+2dup rs1064794925
NM_000314.8(PTEN):c.209+4A>G rs2132232446
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.209+5G>T rs1114167650
NM_000314.8(PTEN):c.209+76A>C rs2132232633
NM_000314.8(PTEN):c.209+9_209+10delinsCC rs1060503841
NM_000314.8(PTEN):c.210-1G>A rs1114167621
NM_000314.8(PTEN):c.210-3dup rs1064794464
NM_000314.8(PTEN):c.210-6T>C rs1057521210
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.212G>A (p.Cys71Tyr) rs1554897856
NM_000314.8(PTEN):c.216T>C (p.Ala72=) rs1057520862
NM_000314.8(PTEN):c.219_222dup (p.His75fs) rs786204898
NM_000314.8(PTEN):c.21_22del (p.Glu7fs) rs786204881
NM_000314.8(PTEN):c.21_37del (p.Ile8fs) rs786204882
NM_000314.8(PTEN):c.222A>G (p.Arg74=) rs781542973
NM_000314.8(PTEN):c.227A>G (p.Tyr76Cys) rs2132238825
NM_000314.8(PTEN):c.227A>T (p.Tyr76Phe) rs2132238825
NM_000314.8(PTEN):c.228T>A (p.Tyr76Ter)
NM_000314.8(PTEN):c.228T>C (p.Tyr76=) rs1554897866
NM_000314.8(PTEN):c.228T>G (p.Tyr76Ter) rs1554897866
NM_000314.8(PTEN):c.234C>A (p.Thr78=) rs35917308
NM_000314.8(PTEN):c.242T>G (p.Phe81Cys) rs876661177
NM_000314.8(PTEN):c.244A>G (p.Asn82Asp) rs1064793242
NM_000314.8(PTEN):c.253+109_253+110insTCTTA rs1799734
NM_000314.8(PTEN):c.253+18_253+22del rs1554897892
NM_000314.8(PTEN):c.253+1G>A rs587776667
NM_000314.8(PTEN):c.253+1G>T rs587776667
NM_000314.8(PTEN):c.253+20_253+26del rs1554897894
NM_000314.8(PTEN):c.253+4_253+7del rs876659695
NM_000314.8(PTEN):c.253+5G>T rs1554897889
NM_000314.8(PTEN):c.253G>A (p.Val85Ile)
NM_000314.8(PTEN):c.254-1G>A rs1057520208
NM_000314.8(PTEN):c.254-2A>G rs786204926
NM_000314.8(PTEN):c.254-3_254-2del rs1064794169
NM_000314.8(PTEN):c.254-6C>G
NM_000314.8(PTEN):c.254-6C>T rs1057520525
NM_000314.8(PTEN):c.254T>G (p.Val85Gly) rs1114167658
NM_000314.8(PTEN):c.264T>A (p.Tyr88Ter) rs1554898056
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.283C>T (p.Pro95Ser) rs1114167630
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.298C>T (p.Leu100Phe) rs1589646100
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.308_309del (p.Pro103fs) rs1554898088
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.321del (p.Asp109fs) rs786204899
NM_000314.8(PTEN):c.323T>C (p.Leu108Pro) rs1064793243
NM_000314.8(PTEN):c.328C>A (p.Gln110Lys) rs1114167629
NM_000314.8(PTEN):c.328C>G (p.Gln110Glu) rs1114167629
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.342A>G (p.Glu114=) rs1589646244
NM_000314.8(PTEN):c.343G>T (p.Asp115Tyr)
NM_000314.8(PTEN):c.346_358dup (p.Ala120fs) rs1064792910
NM_000314.8(PTEN):c.352C>T (p.His118Tyr) rs1564830084
NM_000314.8(PTEN):c.352_353del (p.His118fs) rs876661060
NM_000314.8(PTEN):c.353A>G (p.His118Arg) rs1554898107
NM_000314.8(PTEN):c.355G>C (p.Val119Leu) rs139767111
NM_000314.8(PTEN):c.358G>A (p.Ala120Thr) rs786204930
NM_000314.8(PTEN):c.35A>G (p.Asn12Ser) rs1085308044
NM_000314.8(PTEN):c.361G>A (p.Ala121Thr)
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.369C>T (p.His123=) rs1085308045
NM_000314.8(PTEN):c.370T>C (p.Cys124Arg) rs121909223
NM_000314.8(PTEN):c.371G>A (p.Cys124Tyr) rs876660535
NM_000314.8(PTEN):c.378del (p.Gly127fs)
NM_000314.8(PTEN):c.379G>A (p.Gly127Arg) rs587781255
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.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.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.401T>G (p.Met134Arg) rs1085308046
NM_000314.8(PTEN):c.403A>G (p.Ile135Val) rs587782360
NM_000314.8(PTEN):c.404T>C (p.Ile135Thr) rs370795352
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.40A>G (p.Arg14Gly) rs1085308047
NM_000314.8(PTEN):c.40del (p.Arg14fs)
NM_000314.8(PTEN):c.414T>G (p.Tyr138Ter) rs1554898161
NM_000314.8(PTEN):c.417A>G (p.Leu139=) rs1057520407
NM_000314.8(PTEN):c.422A>C (p.His141Pro) rs863224666
NM_000314.8(PTEN):c.422A>G (p.His141Arg) rs863224666
NM_000314.8(PTEN):c.424C>A (p.Arg142=) rs746152219
NM_000314.8(PTEN):c.424C>T (p.Arg142Trp) rs746152219
NM_000314.8(PTEN):c.42G>A (p.Arg14=) rs1064794513
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.444A>C (p.Ala148=) rs778663292
NM_000314.8(PTEN):c.445C>T (p.Gln149Ter) rs1060500122
NM_000314.8(PTEN):c.44G>A (p.Arg15Lys) rs398123324
NM_000314.8(PTEN):c.44_45del (p.Arg15fs) rs1057524874
NM_000314.8(PTEN):c.454C>T (p.Leu152=) rs1064795450
NM_000314.8(PTEN):c.45A>T (p.Arg15Ser) rs1064794096
NM_000314.8(PTEN):c.46T>G (p.Tyr16Asp) rs1064796078
NM_000314.8(PTEN):c.46dup (p.Tyr16fs) rs786204883
NM_000314.8(PTEN):c.475A>G (p.Arg159Gly) rs786202688
NM_000314.8(PTEN):c.476G>A (p.Arg159Lys) rs1114167673
NM_000314.8(PTEN):c.479C>T (p.Thr160Ile) rs1554898225
NM_000314.8(PTEN):c.47dup (p.Tyr16Ter) rs876661009
NM_000314.8(PTEN):c.486C>G (p.Asp162Glu) rs869312777
NM_000314.8(PTEN):c.487A>T (p.Lys163Ter) rs1554898235
NM_000314.8(PTEN):c.48T>A (p.Tyr16Ter) rs587782187
NM_000314.8(PTEN):c.490A>G (p.Lys164Glu)
NM_000314.8(PTEN):c.491del (p.Lys164fs) rs786204900
NM_000314.8(PTEN):c.492+14T>A rs1057523132
NM_000314.8(PTEN):c.492+14dup rs1064793690
NM_000314.8(PTEN):c.492+16A>G rs1057522052
NM_000314.8(PTEN):c.492+1G>A rs1554898242
NM_000314.8(PTEN):c.492+1G>C rs1554898242
NM_000314.8(PTEN):c.492+2T>C rs1554898244
NM_000314.8(PTEN):c.492G>C (p.Lys164Asn)
NM_000314.8(PTEN):c.493-12dup rs756623620
NM_000314.8(PTEN):c.493-13T>C rs1554900488
NM_000314.8(PTEN):c.493-19T>C rs1554900486
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.493-4C>T rs1057522555
NM_000314.8(PTEN):c.493G>A (p.Gly165Arg) rs587782603
NM_000314.8(PTEN):c.49C>G (p.Gln17Glu) rs786204910
NM_000314.8(PTEN):c.502A>T (p.Ile168Phe)
NM_000314.8(PTEN):c.50_51del (p.Gln17fs) rs587781912
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.513G>A (p.Gln171=) rs1554900546
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.528T>C (p.Tyr176=) rs1057522285
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.560A>G (p.Asp187Gly) rs786204943
NM_000314.8(PTEN):c.56A>G (p.Asp19Gly) rs1554890392
NM_000314.8(PTEN):c.571G>C (p.Val191Leu) rs1060500130
NM_000314.8(PTEN):c.577C>T (p.Leu193=) rs772631069
NM_000314.8(PTEN):c.578T>C (p.Leu193Pro) rs1554900620
NM_000314.8(PTEN):c.580T>A (p.Leu194Met)
NM_000314.8(PTEN):c.585del (p.His196fs) rs786204901
NM_000314.8(PTEN):c.585dup (p.His196fs) rs786204901
NM_000314.8(PTEN):c.589A>T (p.Lys197Ter)
NM_000314.8(PTEN):c.592ATG[1] (p.Met199del) rs1064793244
NM_000314.8(PTEN):c.596T>A (p.Met199Lys) rs587781538
NM_000314.8(PTEN):c.596T>C (p.Met199Thr) rs587781538
NM_000314.8(PTEN):c.598_601del (p.Phe200fs) rs2132269733
NM_000314.8(PTEN):c.599T>C (p.Phe200Ser) rs786204867
NM_000314.8(PTEN):c.59G>A (p.Gly20Glu) rs1064795967
NM_000314.8(PTEN):c.59G>T (p.Gly20Val) rs1064795967
NM_000314.8(PTEN):c.601G>T (p.Glu201Ter) rs1554900638
NM_000314.8(PTEN):c.604A>T (p.Thr202Ser) rs786204944
NM_000314.8(PTEN):c.610C>G (p.Pro204Ala) rs786204868
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+17C>T rs1057522469
NM_000314.8(PTEN):c.634+1G>A rs1114167622
NM_000314.8(PTEN):c.634+1G>T rs1114167622
NM_000314.8(PTEN):c.634+4A>G
NM_000314.8(PTEN):c.634+5G>A rs138336847
NM_000314.8(PTEN):c.634A>G (p.Asn212Asp) rs1860426730
NM_000314.8(PTEN):c.635-10A>G rs1430432370
NM_000314.8(PTEN):c.635-18A>G rs1057520441
NM_000314.8(PTEN):c.635-1G>A rs876661024
NM_000314.8(PTEN):c.635-1G>C rs876661024
NM_000314.8(PTEN):c.635-6A>G rs1009588340
NM_000314.8(PTEN):c.635-7C>T rs1554825148
NM_000314.8(PTEN):c.635-9A>G rs1057520628
NM_000314.8(PTEN):c.640C>T (p.Gln214Ter) rs121909227
NM_000314.8(PTEN):c.64G>C (p.Asp22His) rs876660420
NM_000314.8(PTEN):c.64G>T (p.Asp22Tyr) rs876660420
NM_000314.8(PTEN):c.653G>T (p.Cys218Phe)
NM_000314.8(PTEN):c.654C>A (p.Cys218Ter) rs1554825165
NM_000314.8(PTEN):c.656A>C (p.Gln219Pro) rs1554825172
NM_000314.8(PTEN):c.664G>A (p.Val222Met) rs878853943
NM_000314.8(PTEN):c.667A>T (p.Lys223Ter) rs1085308049
NM_000314.8(PTEN):c.673del (p.Tyr225fs) rs1589663253
NM_000314.8(PTEN):c.675T>C (p.Tyr225=) rs1057520900
NM_000314.8(PTEN):c.675T>G (p.Tyr225Ter) rs1057520900
NM_000314.8(PTEN):c.683A>G (p.Asn228Ser) rs748240670
NM_000314.8(PTEN):c.685T>A (p.Ser229Thr) rs587781998
NM_000314.8(PTEN):c.686C>G (p.Ser229Ter) rs1214965807
NM_000314.8(PTEN):c.695C>T (p.Thr232Ile) rs2132276908
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.8(PTEN):c.69dup (p.Asp24fs) rs1589596415
NM_000314.8(PTEN):c.700C>T (p.Arg234Trp) rs786201730
NM_000314.8(PTEN):c.701G>A (p.Arg234Gln) rs121909235
NM_000314.8(PTEN):c.702_703delinsC (p.Glu235fs) rs1131691831
NM_000314.8(PTEN):c.708C>T (p.Asp236=) rs1183182915
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.715A>G (p.Met239Val) rs786201758
NM_000314.8(PTEN):c.716T>C (p.Met239Thr) rs786204871
NM_000314.8(PTEN):c.721T>C (p.Phe241Leu) rs1554825207
NM_000314.8(PTEN):c.721T>G (p.Phe241Val) rs1554825207
NM_000314.8(PTEN):c.722T>C (p.Phe241Ser) rs121909240
NM_000314.8(PTEN):c.730C>T (p.Pro244Ser) rs1064794675
NM_000314.8(PTEN):c.734A>C (p.Gln245Pro) rs1057518538
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000314.8(PTEN):c.739_740insAT (p.Leu247fs) rs786204902
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.74T>C (p.Leu25Ser) rs786204912
NM_000314.8(PTEN):c.750T>A (p.Cys250Ter) rs767623493
NM_000314.8(PTEN):c.750_751del (p.Cys250fs) rs780264945
NM_000314.8(PTEN):c.752G>A (p.Gly251Asp) rs1554825226
NM_000314.8(PTEN):c.754G>A (p.Asp252Asn) rs1589663499
NM_000314.8(PTEN):c.755A>G (p.Asp252Gly) rs121909239
NM_000314.8(PTEN):c.758_761del (p.Ile253fs) rs786204903
NM_000314.8(PTEN):c.761A>C (p.Lys254Thr) rs1114167633
NM_000314.8(PTEN):c.761A>T (p.Lys254Ile) rs1114167633
NM_000314.8(PTEN):c.763dup (p.Val255fs) rs1554825240
NM_000314.8(PTEN):c.76A>C (p.Thr26Pro) rs876661010
NM_000314.8(PTEN):c.771_772del (p.Phe258fs) rs786204904
NM_000314.8(PTEN):c.774C>T (p.Phe258=) rs1554825246
NM_000314.8(PTEN):c.781C>T (p.Gln261Ter) rs730882131
NM_000314.8(PTEN):c.78C>A (p.Thr26=) rs786201280
NM_000314.8(PTEN):c.79+4T>G
NM_000314.8(PTEN):c.79+7A>T rs374331677
NM_000314.8(PTEN):c.796A>G (p.Lys266Glu)
NM_000314.8(PTEN):c.80-1G>C rs786204914
NM_000314.8(PTEN):c.80-5C>T rs1060503842
NM_000314.8(PTEN):c.800del (p.Lys267fs) rs121913289
NM_000314.8(PTEN):c.801+15T>C rs1057520830
NM_000314.8(PTEN):c.801+1G>A rs786204873
NM_000314.8(PTEN):c.801+1G>T rs786204873
NM_000314.8(PTEN):c.801+9T>C rs1060503839
NM_000314.8(PTEN):c.801G>T (p.Lys267Asn) rs1554825266
NM_000314.8(PTEN):c.802-18_802-14del rs786204879
NM_000314.8(PTEN):c.802-1G>A rs1257124719
NM_000314.8(PTEN):c.802-23_802-13del rs1064794381
NM_000314.8(PTEN):c.802-29_802-20del rs1064793331
NM_000314.8(PTEN):c.802-2dup rs1554825500
NM_000314.8(PTEN):c.802-3del rs34003473
NM_000314.8(PTEN):c.802-3dup rs34003473
NM_000314.8(PTEN):c.802-51_802-14del rs557364463
NM_000314.8(PTEN):c.802-5_802-3dup rs34003473
NM_000314.8(PTEN):c.802-6T>G rs1057522284
NM_000314.8(PTEN):c.802-9T>G rs1057520354
NM_000314.8(PTEN):c.808A>G (p.Met270Val) rs1554825502
NM_000314.8(PTEN):c.80A>C (p.Tyr27Ser) rs886041877
NM_000314.8(PTEN):c.80A>T (p.Tyr27Phe)
NM_000314.8(PTEN):c.810G>C (p.Met270Ile)
NM_000314.8(PTEN):c.822G>A (p.Trp274Ter) rs587782607
NM_000314.8(PTEN):c.826A>G (p.Asn276Asp) rs1589665622
NM_000314.8(PTEN):c.830C>T (p.Thr277Ile) rs398123329
NM_000314.8(PTEN):c.831A>G (p.Thr277=) rs376886779
NM_000314.8(PTEN):c.833del (p.Phe278fs)
NM_000314.8(PTEN):c.838A>G (p.Ile280Val) rs1474354667
NM_000314.8(PTEN):c.83T>C (p.Ile28Thr) rs1355570425
NM_000314.8(PTEN):c.849_858del (p.Glu284fs)
NM_000314.8(PTEN):c.859T>C (p.Ser287Pro) rs1554825526
NM_000314.8(PTEN):c.85_88del (p.Tyr29fs) rs786204894
NM_000314.8(PTEN):c.865_866insTTCT (p.Lys289fs) rs1554825530
NM_000314.8(PTEN):c.867dup (p.Val290fs)
NM_000314.8(PTEN):c.869T>C (p.Val290Ala) rs876661234
NM_000314.8(PTEN):c.870A>G (p.Val290=) rs529155918
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.884_885insTT (p.Cys296fs) rs587780006
NM_000314.8(PTEN):c.884dup (p.Cys296fs) rs587780006
NM_000314.8(PTEN):c.889G>T (p.Asp297Tyr) rs370064195
NM_000314.8(PTEN):c.892C>T (p.Gln298Ter) rs371387815
NM_000314.8(PTEN):c.892del (p.Gln298fs) rs786204884
NM_000314.8(PTEN):c.896A>G (p.Glu299Gly) rs1554825550
NM_000314.8(PTEN):c.899_903del (p.Ile300fs) rs1064796067
NM_000314.8(PTEN):c.900del (p.Ile300fs) rs797045904
NM_000314.8(PTEN):c.906C>G (p.Ser302Arg) rs876660906
NM_000314.8(PTEN):c.912C>A (p.Cys304Ter) rs2132282639
NM_000314.8(PTEN):c.914G>A (p.Ser305Asn) rs587780007
NM_000314.8(PTEN):c.915del (p.Ser305fs) rs1589665953
NM_000314.8(PTEN):c.919G>C (p.Glu307Gln) rs746930141
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.922C>T (p.Arg308Cys) rs1064794436
NM_000314.8(PTEN):c.928_929insGTGCA (p.Asp310fs) rs786204906
NM_000314.8(PTEN):c.929A>G (p.Asp310Gly) rs1564568473
NM_000314.8(PTEN):c.941A>C (p.Glu314Ala) rs1171478249
NM_000314.8(PTEN):c.944_945del (p.Tyr315fs) rs1064796128
NM_000314.8(PTEN):c.945T>A (p.Tyr315Ter) rs876661058
NM_000314.8(PTEN):c.947T>C (p.Leu316Pro) rs1064793345
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.95T>C (p.Ile32Thr) rs1057518329
NM_000314.8(PTEN):c.964A>G (p.Lys322Glu)
NM_000314.8(PTEN):c.964A>T (p.Lys322Ter) rs786202004
NM_000314.8(PTEN):c.966A>G (p.Lys322=) rs786201392
NM_000314.8(PTEN):c.968dup (p.Asn323fs) rs121913291
NM_000314.8(PTEN):c.976G>A (p.Asp326Asn)
NM_000314.8(PTEN):c.984_998dup (p.Lys330_Asn334dup) rs1057518539
NM_000314.8(PTEN):c.987_990del (p.Asn329fs) rs587782304
NM_000314.8(PTEN):c.98T>C (p.Ile33Thr) rs1554893771

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.