ClinVar Miner

List of variants reported as likely benign for PTEN hamartoma tumor syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 476
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HGVS dbSNP gnomAD frequency
NM_001126049.2(KLLN):c.-956G>T rs34149102 0.00683
NM_000314.8(PTEN):c.*1745G>A rs116248217 0.00644
NM_001126049.2(KLLN):c.-898G>A rs538728843 0.00262
NM_000314.8(PTEN):c.254-34T>G rs34047313 0.00200
NM_000314.8(PTEN):c.209+84G>A rs185262832 0.00199
NM_000314.8(PTEN):c.132C>T (p.Gly44=) rs150651961 0.00168
NM_000314.8(PTEN):c.1104T>C (p.Asp368=) rs35979531 0.00158
NM_000314.8(PTEN):c.801+23G>A rs116160352 0.00091
NM_000314.8(PTEN):c.804C>A (p.Asp268Glu) rs398123328 0.00068
NM_000314.8(PTEN):c.*421T>C rs141648241 0.00051
NM_000314.8(PTEN):c.802-34C>A rs531071483 0.00039
NM_001126049.2(KLLN):c.-840G>A rs563841270 0.00036
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584 0.00029
NM_000314.8(PTEN):c.234C>T (p.Thr78=) rs35917308 0.00016
NM_000314.8(PTEN):c.802-12T>C rs587781129 0.00015
NM_000314.6(PTEN):c.-909T>C rs550385924 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.254-39G>T rs35034871 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.*601A>G rs371547288 0.00008
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.-837C>T rs786204940 0.00005
NM_000314.8(PTEN):c.612A>G (p.Pro204=) rs539074063 0.00004
NM_000314.8(PTEN):c.-799G>C rs587779992 0.00003
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_000314.8(PTEN):c.159A>G (p.Val53=) rs189583426 0.00003
NM_000314.8(PTEN):c.635-16G>A rs750772657 0.00003
NM_000314.8(PTEN):c.79+16G>C rs768604051 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.-280C>T rs571072832 0.00002
NM_000314.8(PTEN):c.1078A>G (p.Ser360Gly) rs587781273 0.00002
NM_000314.8(PTEN):c.1086A>G (p.Ser362=) rs761948873 0.00002
NM_000314.8(PTEN):c.209+10T>C rs770451470 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.802-13T>C rs540097879 0.00002
NM_000314.8(PTEN):c.900C>T (p.Ile300=) rs550122918 0.00002
NM_000314.8(PTEN):c.1003C>A (p.Arg335=) rs121909231 0.00001
NM_000314.8(PTEN):c.1008C>T (p.Tyr336=) rs786201816 0.00001
NM_000314.8(PTEN):c.1027-8T>C rs776676859 0.00001
NM_000314.8(PTEN):c.1050A>G (p.Thr350=) rs769324650 0.00001
NM_000314.8(PTEN):c.1062G>A (p.Pro354=) rs786202751 0.00001
NM_000314.8(PTEN):c.114T>G (p.Pro38=) rs748040144 0.00001
NM_000314.8(PTEN):c.1203A>G (p.Thr401=) rs876659102 0.00001
NM_000314.8(PTEN):c.1209C>G (p.Val403=) rs1860740348 0.00001
NM_000314.8(PTEN):c.164+12T>C rs1057521654 0.00001
NM_000314.8(PTEN):c.165-9T>G rs878853934 0.00001
NM_000314.8(PTEN):c.204C>T (p.Tyr68=) rs773176120 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.210-17T>G 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.253+4G>A rs1060500112 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.294A>G (p.Leu98=) rs770224289 0.00001
NM_000314.8(PTEN):c.321T>C (p.Asp107=) rs372876243 0.00001
NM_000314.8(PTEN):c.360A>C (p.Ala120=) rs759485888 0.00001
NM_000314.8(PTEN):c.441G>A (p.Lys147=) rs1564830394 0.00001
NM_000314.8(PTEN):c.480C>T (p.Thr160=) rs746574957 0.00001
NM_000314.8(PTEN):c.48T>C (p.Tyr16=) rs587782187 0.00001
NM_000314.8(PTEN):c.492+15G>T rs1380149618 0.00001
NM_000314.8(PTEN):c.492+31T>C rs1320105617 0.00001
NM_000314.8(PTEN):c.606T>C (p.Thr202=) rs1242879806 0.00001
NM_000314.8(PTEN):c.624C>T (p.Gly208=) rs370162160 0.00001
NM_000314.8(PTEN):c.635-14A>G rs758742080 0.00001
NM_000314.8(PTEN):c.635-8C>A rs780495238 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.72C>T (p.Asp24=) rs1320222638 0.00001
NM_000314.8(PTEN):c.732T>C (p.Pro244=) rs1425663292 0.00001
NM_000314.8(PTEN):c.738G>A (p.Pro246=) rs774364894 0.00001
NM_000314.8(PTEN):c.750T>C (p.Cys250=) rs767623493 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+15G>T rs1269898602 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.80-14A>T rs768354874 0.00001
NM_000314.8(PTEN):c.801+14T>C rs1459692246 0.00001
NM_000314.8(PTEN):c.801+19T>C rs780407190 0.00001
NM_000314.8(PTEN):c.801+8C>G rs1057517630 0.00001
NM_000314.8(PTEN):c.802-17T>C rs1057520419 0.00001
NM_000314.8(PTEN):c.802-4T>C rs753469080 0.00001
NM_000314.8(PTEN):c.858C>G (p.Thr286=) rs876660443 0.00001
NM_000314.8(PTEN):c.885A>G (p.Leu295=) rs587780713 0.00001
NM_000314.8(PTEN):c.93C>T (p.Asn31=) rs1170214930 0.00001
NM_000314.8(PTEN):c.948A>G (p.Leu316=) rs775997892 0.00001
NM_000314.8(PTEN):c.981A>G (p.Lys327=) rs772872626 0.00001
NM_000314.8(PTEN):c.*1131del rs547262170
NM_000314.8(PTEN):c.*3448_*3463dup rs763859619
NM_000314.8(PTEN):c.*3449_*3463dup rs763859619
NM_000314.8(PTEN):c.*666dup rs543873570
NM_000314.8(PTEN):c.-14A>C rs755295390
NM_000314.8(PTEN):c.-534G>T rs886047385
NM_000314.8(PTEN):c.-675C>T rs876661258
NM_000314.8(PTEN):c.-735G>A rs886047384
NM_000314.8(PTEN):c.-802G>A rs876661166
NM_000314.8(PTEN):c.1005A>G (p.Arg335=) rs1303065649
NM_000314.8(PTEN):c.1005A>T (p.Arg335=) rs1303065649
NM_000314.8(PTEN):c.1011T>C (p.Phe337=) rs876659916
NM_000314.8(PTEN):c.1017A>G (p.Pro339=) rs1554825644
NM_000314.8(PTEN):c.1026+10A>G rs767777911
NM_000314.8(PTEN):c.1026+11_1026+15del rs1564568719
NM_000314.8(PTEN):c.1026+7T>A rs1589666333
NM_000314.8(PTEN):c.1026+9A>C rs1554825657
NM_000314.8(PTEN):c.1027-12T>G rs1057521732
NM_000314.8(PTEN):c.1027-14T>C
NM_000314.8(PTEN):c.1027-17A>T rs1057520355
NM_000314.8(PTEN):c.1027-19T>C
NM_000314.8(PTEN):c.1027-4C>G rs587782788
NM_000314.8(PTEN):c.1027-6C>A rs1374474745
NM_000314.8(PTEN):c.1027-6C>T rs1374474745
NM_000314.8(PTEN):c.1027-7T>C rs2132289086
NM_000314.8(PTEN):c.1027-8_1027-5del
NM_000314.8(PTEN):c.1027-9T>C rs1156734821
NM_000314.8(PTEN):c.1029G>A (p.Val343=) rs1393550059
NM_000314.8(PTEN):c.102T>A (p.Ala34=) rs1472278114
NM_000314.8(PTEN):c.1035G>A (p.Leu345=) rs1564570289
NM_000314.8(PTEN):c.1038C>T (p.Tyr346=) rs2132289237
NM_000314.8(PTEN):c.1041C>T (p.Phe347=) rs1554826029
NM_000314.8(PTEN):c.1044A>G (p.Thr348=) rs747606399
NM_000314.8(PTEN):c.1071A>G (p.Pro357=)
NM_000314.8(PTEN):c.1074G>A (p.Glu358=) rs876659464
NM_000314.8(PTEN):c.1089T>C (p.Thr363=) rs864622690
NM_000314.8(PTEN):c.108A>G (p.Gly36=) rs985009599
NM_000314.8(PTEN):c.1092T>C (p.Ser364=) rs1355576298
NM_000314.8(PTEN):c.1092T>G (p.Ser364=) rs1355576298
NM_000314.8(PTEN):c.1098A>C (p.Thr366=) rs1554826045
NM_000314.8(PTEN):c.1101A>G (p.Pro367=) rs2132289693
NM_000314.8(PTEN):c.1107T>C (p.Val369=) rs1554826048
NM_000314.8(PTEN):c.1116T>C (p.Asn372=) rs1060503845
NM_000314.8(PTEN):c.1119A>G (p.Glu373=)
NM_000314.8(PTEN):c.1131T>C (p.Tyr377=) rs1345063638
NM_000314.8(PTEN):c.1134A>G (p.Arg378=) rs1554826056
NM_000314.8(PTEN):c.1137T>C (p.Tyr379=) rs1295420243
NM_000314.8(PTEN):c.1143C>T (p.Asp381=) rs2132290018
NM_000314.8(PTEN):c.1152C>T (p.Asp384=) rs2132290073
NM_000314.8(PTEN):c.1155T>C (p.Ser385=) rs1860738182
NM_000314.8(PTEN):c.1161A>G (p.Pro387=) rs1057523975
NM_000314.8(PTEN):c.1170A>G (p.Glu390=) rs1057524010
NM_000314.8(PTEN):c.1173T>C (p.Pro391=)
NM_000314.8(PTEN):c.117A>C (p.Ala39=) rs1223327870
NM_000314.8(PTEN):c.1188G>A (p.Gln396=) rs786202062
NM_000314.8(PTEN):c.1200T>A (p.Ile400=)
NM_000314.8(PTEN):c.129A>G (p.Glu43=) rs1453337737
NM_000314.8(PTEN):c.12C>T (p.Ile4=) rs2132145422
NM_000314.8(PTEN):c.132C>A (p.Gly44=) rs150651961
NM_000314.8(PTEN):c.135A>G (p.Val45=) rs959491852
NM_000314.8(PTEN):c.144C>T (p.Asn48=) rs762518389
NM_000314.8(PTEN):c.153T>C (p.Asp51=)
NM_000314.8(PTEN):c.156T>C (p.Asp52=) rs1589617385
NM_000314.8(PTEN):c.15C>T (p.Ile5=)
NM_000314.8(PTEN):c.162A>G (p.Val54=)
NM_000314.8(PTEN):c.164+10C>T rs1859100909
NM_000314.8(PTEN):c.164+20C>G rs2132187978
NM_000314.8(PTEN):c.164+9G>T
NM_000314.8(PTEN):c.165-11T>A
NM_000314.8(PTEN):c.165-14dup rs2132232028
NM_000314.8(PTEN):c.165-17G>A
NM_000314.8(PTEN):c.165-17G>C rs898943632
NM_000314.8(PTEN):c.165-17G>T rs898943632
NM_000314.8(PTEN):c.165-20T>C rs1859801133
NM_000314.8(PTEN):c.165-24TTTG[2] rs786204877
NM_000314.8(PTEN):c.165-5T>G
NM_000314.8(PTEN):c.165-7T>C rs572375431
NM_000314.8(PTEN):c.165-8G>A rs2132232059
NM_000314.8(PTEN):c.165-8_165-4del rs760571273
NM_000314.8(PTEN):c.174T>C (p.Asp58=) rs769719835
NM_000314.8(PTEN):c.177A>G (p.Ser59=) rs878853935
NM_000314.8(PTEN):c.180G>A (p.Lys60=) rs972166984
NM_000314.8(PTEN):c.189C>T (p.Asn63=) rs2132232254
NM_000314.8(PTEN):c.18A>G (p.Lys6=) rs876660391
NM_000314.8(PTEN):c.195C>T (p.Tyr65=) rs878853936
NM_000314.8(PTEN):c.201A>T (p.Ile67=) rs2132232357
NM_000314.8(PTEN):c.207T>C (p.Asn69=)
NM_000314.8(PTEN):c.209+12T>G
NM_000314.8(PTEN):c.209+15T>A
NM_000314.8(PTEN):c.209+15T>G
NM_000314.8(PTEN):c.209+3A>G rs786202612
NM_000314.8(PTEN):c.209+7A>G rs1554897284
NM_000314.8(PTEN):c.209+9G>A
NM_000314.8(PTEN):c.209+9_209+10delinsCC rs1060503841
NM_000314.8(PTEN):c.210-10T>C rs2132238629
NM_000314.8(PTEN):c.210-11T>A
NM_000314.8(PTEN):c.210-12C>A rs766570103
NM_000314.8(PTEN):c.210-13A>G rs2132238614
NM_000314.8(PTEN):c.210-17T>A rs750987148
NM_000314.8(PTEN):c.210-3dup rs1064794464
NM_000314.8(PTEN):c.210-4T>C rs1589644668
NM_000314.8(PTEN):c.210-5T>C rs863224358
NM_000314.8(PTEN):c.210-6T>C rs1057521210
NM_000314.8(PTEN):c.210-7C>A
NM_000314.8(PTEN):c.210-7C>G
NM_000314.8(PTEN):c.210-7C>T
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.210-7_210-4del
NM_000314.8(PTEN):c.210-8T>C rs2132238637
NM_000314.8(PTEN):c.210-8T>G
NM_000314.8(PTEN):c.210-8dup
NM_000314.8(PTEN):c.216T>C (p.Ala72=) rs1057520862
NM_000314.8(PTEN):c.222A>G (p.Arg74=) rs781542973
NM_000314.8(PTEN):c.228T>C (p.Tyr76=) rs1554897866
NM_000314.8(PTEN):c.231C>T (p.Asp77=) rs755953294
NM_000314.8(PTEN):c.234C>A (p.Thr78=) rs35917308
NM_000314.8(PTEN):c.234C>G (p.Thr78=) rs35917308
NM_000314.8(PTEN):c.237C>G (p.Ala79=)
NM_000314.8(PTEN):c.237C>T (p.Ala79=)
NM_000314.8(PTEN):c.243T>C (p.Phe81=) rs2132238960
NM_000314.8(PTEN):c.246T>C (p.Asn82=) rs2132238982
NM_000314.8(PTEN):c.253+11A>C
NM_000314.8(PTEN):c.253+11A>T
NM_000314.8(PTEN):c.253+17T>G rs2132239104
NM_000314.8(PTEN):c.253+18G>A
NM_000314.8(PTEN):c.253+20_253+24dup
NM_000314.8(PTEN):c.253+20_253+25del
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+7A>G rs2132239067
NM_000314.8(PTEN):c.253+9G>A
NM_000314.8(PTEN):c.254-10T>C rs1554898047
NM_000314.8(PTEN):c.254-11T>C rs2132241916
NM_000314.8(PTEN):c.254-12T>G rs2132241908
NM_000314.8(PTEN):c.254-15A>G
NM_000314.8(PTEN):c.254-20A>C
NM_000314.8(PTEN):c.254-3_254-2del rs1064794169
NM_000314.8(PTEN):c.254-4A>G
NM_000314.8(PTEN):c.254-5C>T rs1589645935
NM_000314.8(PTEN):c.254-6C>T rs1057520525
NM_000314.8(PTEN):c.254-7A>G rs2132241925
NM_000314.8(PTEN):c.254-7dup rs1060503846
NM_000314.8(PTEN):c.264T>C (p.Tyr88=) rs1554898056
NM_000314.8(PTEN):c.273A>G (p.Glu91=) rs1589646019
NM_000314.8(PTEN):c.279T>C (p.His93=) rs145695240
NM_000314.8(PTEN):c.282C>T (p.Asn94=) rs1589646058
NM_000314.8(PTEN):c.291G>A (p.Gln97=) rs1564829889
NM_000314.8(PTEN):c.303C>T (p.Ile101=) rs1859968521
NM_000314.8(PTEN):c.309C>G (p.Pro103=) rs2132242458
NM_000314.8(PTEN):c.30C>T (p.Ser10=)
NM_000314.8(PTEN):c.31A>C (p.Arg11=) rs1858395868
NM_000314.8(PTEN):c.327C>T (p.Asp109=)
NM_000314.8(PTEN):c.330A>G (p.Gln110=) rs786201929
NM_000314.8(PTEN):c.342A>G (p.Glu114=) rs1589646244
NM_000314.8(PTEN):c.348C>T (p.Asp116=) rs1114167651
NM_000314.8(PTEN):c.351T>C (p.Asn117=) rs2132242870
NM_000314.8(PTEN):c.354T>C (p.His118=) rs1564830090
NM_000314.8(PTEN):c.357T>G (p.Val119=) rs1554898115
NM_000314.8(PTEN):c.360A>G (p.Ala120=) rs759485888
NM_000314.8(PTEN):c.369C>T (p.His123=) rs1085308045
NM_000314.8(PTEN):c.381A>C (p.Gly127=) rs1357327961
NM_000314.8(PTEN):c.384G>A (p.Lys128=) rs1114167645
NM_000314.8(PTEN):c.387A>G (p.Gly129=) rs2132243217
NM_000314.8(PTEN):c.390A>T (p.Arg130=) rs963598711
NM_000314.8(PTEN):c.396T>C (p.Gly132=) rs1564830257
NM_000314.8(PTEN):c.39A>G (p.Lys13=) rs2132145687
NM_000314.8(PTEN):c.408T>C (p.Cys136=) rs869312776
NM_000314.8(PTEN):c.414T>C (p.Tyr138=)
NM_000314.8(PTEN):c.417A>G (p.Leu139=) rs1057520407
NM_000314.8(PTEN):c.420A>G (p.Leu140=) rs2132243531
NM_000314.8(PTEN):c.423T>C (p.His141=) rs1459569607
NM_000314.8(PTEN):c.426G>A (p.Arg142=) rs878853939
NM_000314.8(PTEN):c.426G>C (p.Arg142=) rs878853939
NM_000314.8(PTEN):c.429C>T (p.Gly143=) rs1589646539
NM_000314.8(PTEN):c.42G>A (p.Arg14=) rs1064794513
NM_000314.8(PTEN):c.432A>G (p.Lys144=) rs2132243670
NM_000314.8(PTEN):c.438A>G (p.Leu146=)
NM_000314.8(PTEN):c.444A>C (p.Ala148=) rs778663292
NM_000314.8(PTEN):c.444A>T (p.Ala148=) rs778663292
NM_000314.8(PTEN):c.447A>G (p.Gln149=) rs750401982
NM_000314.8(PTEN):c.450G>A (p.Glu150=) rs757777398
NM_000314.8(PTEN):c.453C>T (p.Ala151=) rs2132243850
NM_000314.8(PTEN):c.454C>T (p.Leu152=) rs1064795450
NM_000314.8(PTEN):c.456A>C (p.Leu152=) rs779626613
NM_000314.8(PTEN):c.45A>G (p.Arg15=) rs1064794096
NM_000314.8(PTEN):c.468G>A (p.Gly156=)
NM_000314.8(PTEN):c.481A>C (p.Arg161=)
NM_000314.8(PTEN):c.483A>G (p.Arg161=) rs2132244098
NM_000314.8(PTEN):c.492+14T>A rs1057523132
NM_000314.8(PTEN):c.492+14T>C rs1057523132
NM_000314.8(PTEN):c.492+7T>C rs373077590
NM_000314.8(PTEN):c.492+7T>G rs373077590
NM_000314.8(PTEN):c.492+8A>G rs1859985473
NM_000314.8(PTEN):c.492+9T>A rs2132244235
NM_000314.8(PTEN):c.492+9T>C rs2132244235
NM_000314.8(PTEN):c.493-10T>G
NM_000314.8(PTEN):c.493-13T>C rs1554900488
NM_000314.8(PTEN):c.493-14T>C rs1564837710
NM_000314.8(PTEN):c.493-15T>C
NM_000314.8(PTEN):c.493-18T>C
NM_000314.8(PTEN):c.493-19T>C rs1554900486
NM_000314.8(PTEN):c.493-27G>T rs1589659262
NM_000314.8(PTEN):c.493-4C>T rs1057522555
NM_000314.8(PTEN):c.493-6C>T rs1554900496
NM_000314.8(PTEN):c.493-7C>G
NM_000314.8(PTEN):c.493-7C>T rs1554900492
NM_000314.8(PTEN):c.493-8T>C
NM_000314.8(PTEN):c.493-9G>A rs1554900490
NM_000314.8(PTEN):c.493-9G>T rs1554900490
NM_000314.8(PTEN):c.501T>C (p.Thr167=) rs2132268947
NM_000314.8(PTEN):c.504T>A (p.Ile168=) rs1589659338
NM_000314.8(PTEN):c.513G>A (p.Gln171=) rs1554900546
NM_000314.8(PTEN):c.516G>A (p.Arg172=)
NM_000314.8(PTEN):c.519C>T (p.Arg173=)
NM_000314.8(PTEN):c.522T>C (p.Tyr174=) rs786201867
NM_000314.8(PTEN):c.525G>C (p.Val175=) rs1554900563
NM_000314.8(PTEN):c.525G>T (p.Val175=)
NM_000314.8(PTEN):c.528T>C (p.Tyr176=) rs1057522285
NM_000314.8(PTEN):c.534T>C (p.Tyr178=) rs104894184
NM_000314.8(PTEN):c.537C>T (p.Ser179=)
NM_000314.8(PTEN):c.543G>C (p.Leu181=) rs1589659495
NM_000314.8(PTEN):c.549G>A (p.Lys183=)
NM_000314.8(PTEN):c.54G>A (p.Glu18=) rs1554890388
NM_000314.8(PTEN):c.555T>C (p.His185=) rs757799618
NM_000314.8(PTEN):c.556C>T (p.Leu186=) rs1589659546
NM_000314.8(PTEN):c.564T>C (p.Tyr188=) rs606231170
NM_000314.8(PTEN):c.567A>G (p.Arg189=) rs1589659570
NM_000314.8(PTEN):c.573G>A (p.Val191=) rs374478092
NM_000314.8(PTEN):c.576A>G (p.Ala192=) rs1554900619
NM_000314.8(PTEN):c.577C>T (p.Leu193=) rs772631069
NM_000314.8(PTEN):c.579G>T (p.Leu193=) rs568851024
NM_000314.8(PTEN):c.57T>C (p.Asp19=) rs540063602
NM_000314.8(PTEN):c.585T>C (p.Phe195=) rs1554900624
NM_000314.8(PTEN):c.588C>T (p.His196=) rs1860423218
NM_000314.8(PTEN):c.60A>G (p.Gly20=)
NM_000314.8(PTEN):c.612A>C (p.Pro204=) rs539074063
NM_000314.8(PTEN):c.618C>T (p.Phe206=) rs786202773
NM_000314.8(PTEN):c.630T>A (p.Thr210=)
NM_000314.8(PTEN):c.634+11G>C
NM_000314.8(PTEN):c.634+13A>T rs2132270168
NM_000314.8(PTEN):c.634+14A>T rs762694325
NM_000314.8(PTEN):c.634+14del rs2132270165
NM_000314.8(PTEN):c.634+18T>G
NM_000314.8(PTEN):c.634+19C>T rs766397244
NM_000314.8(PTEN):c.634+20A>G rs2132270192
NM_000314.8(PTEN):c.634+7G>C rs1860427142
NM_000314.8(PTEN):c.634+9T>C rs1589659798
NM_000314.8(PTEN):c.635-10A>G rs1430432370
NM_000314.8(PTEN):c.635-11T>G rs2132276315
NM_000314.8(PTEN):c.635-18A>G rs1057520441
NM_000314.8(PTEN):c.635-20G>A rs1317974446
NM_000314.8(PTEN):c.635-20G>T
NM_000314.8(PTEN):c.635-4G>A
NM_000314.8(PTEN):c.635-5T>C
NM_000314.8(PTEN):c.635-6A>G rs1009588340
NM_000314.8(PTEN):c.635-7C>A rs1554825148
NM_000314.8(PTEN):c.635-7C>T rs1554825148
NM_000314.8(PTEN):c.636T>C (p.Asn212=) rs2132276380
NM_000314.8(PTEN):c.63C>T (p.Phe21=) rs1858399493
NM_000314.8(PTEN):c.642G>A (p.Gln214=) rs1589663143
NM_000314.8(PTEN):c.651C>T (p.Val217=) rs886038278
NM_000314.8(PTEN):c.658C>T (p.Leu220=)
NM_000314.8(PTEN):c.660A>C (p.Leu220=) rs1352585442
NM_000314.8(PTEN):c.66C>T (p.Asp22=) rs786201335
NM_000314.8(PTEN):c.672A>T (p.Ile224=)
NM_000314.8(PTEN):c.678C>G (p.Ser226=) rs1589663262
NM_000314.8(PTEN):c.681C>T (p.Ser227=) rs768662424
NM_000314.8(PTEN):c.684T>C (p.Asn228=) rs2132276789
NM_000314.8(PTEN):c.687A>G (p.Ser229=) rs1554825185
NM_000314.8(PTEN):c.693C>A (p.Pro231=)
NM_000314.8(PTEN):c.697C>A (p.Arg233=) rs121909219
NM_000314.8(PTEN):c.699A>G (p.Arg233=) rs1589663321
NM_000314.8(PTEN):c.6A>C (p.Thr2=) rs1168115184
NM_000314.8(PTEN):c.6A>G (p.Thr2=)
NM_000314.8(PTEN):c.708C>T (p.Asp236=) rs1183182915
NM_000314.8(PTEN):c.714C>T (p.Phe238=) rs2132277083
NM_000314.8(PTEN):c.729C>T (p.Phe243=)
NM_000314.8(PTEN):c.741A>G (p.Leu247=) rs1554825217
NM_000314.8(PTEN):c.744T>C (p.Pro248=) rs1589663469
NM_000314.8(PTEN):c.747G>A (p.Val249=) rs1060503840
NM_000314.8(PTEN):c.753T>A (p.Gly251=) rs1554825232
NM_000314.8(PTEN):c.756T>C (p.Asp252=) rs2132277479
NM_000314.8(PTEN):c.759C>A (p.Ile253=) rs752250585
NM_000314.8(PTEN):c.759C>T (p.Ile253=) rs752250585
NM_000314.8(PTEN):c.765A>G (p.Val255=) rs1589663555
NM_000314.8(PTEN):c.774C>T (p.Phe258=) rs1554825246
NM_000314.8(PTEN):c.777C>T (p.His259=) rs2132277664
NM_000314.8(PTEN):c.780A>G (p.Lys260=) rs876658720
NM_000314.8(PTEN):c.786C>T (p.Asn262=) rs2132277734
NM_000314.8(PTEN):c.79+11C>T rs1564801923
NM_000314.8(PTEN):c.79+14C>T rs760610000
NM_000314.8(PTEN):c.79+15G>A
NM_000314.8(PTEN):c.79+15G>C rs1269898602
NM_000314.8(PTEN):c.79+18T>A
NM_000314.8(PTEN):c.79+18T>C
NM_000314.8(PTEN):c.79+19G>C
NM_000314.8(PTEN):c.79+23_79+25del rs1221062997
NM_000314.8(PTEN):c.79+7A>T rs374331677
NM_000314.8(PTEN):c.79+9T>A rs2132146167
NM_000314.8(PTEN):c.795A>C (p.Leu265=) rs891648600
NM_000314.8(PTEN):c.80-10A>T rs2132186986
NM_000314.8(PTEN):c.80-10_80-6del rs1589617099
NM_000314.8(PTEN):c.80-15A>G rs2132186952
NM_000314.8(PTEN):c.80-16T>G rs2132186949
NM_000314.8(PTEN):c.80-17T>G rs557842695
NM_000314.8(PTEN):c.80-23_85del rs1589617079
NM_000314.8(PTEN):c.80-4T>C rs2132187028
NM_000314.8(PTEN):c.80-5C>T rs1060503842
NM_000314.8(PTEN):c.80-6A>G rs1554893744
NM_000314.8(PTEN):c.80-8del rs1060503844
NM_000314.8(PTEN):c.801+11T>C
NM_000314.8(PTEN):c.801+11_801+16del
NM_000314.8(PTEN):c.801+11dup rs2132277897
NM_000314.8(PTEN):c.801+12_801+16del rs2132277881
NM_000314.8(PTEN):c.801+13C>T
NM_000314.8(PTEN):c.801+15T>C rs1057520830
NM_000314.8(PTEN):c.801+16T>C rs2132277921
NM_000314.8(PTEN):c.801+20T>C
NM_000314.8(PTEN):c.801+20T>G
NM_000314.8(PTEN):c.801+7A>T rs1211730867
NM_000314.8(PTEN):c.801+9T>C rs1060503839
NM_000314.8(PTEN):c.802-10T>C rs1270511778
NM_000314.8(PTEN):c.802-11_802-3del rs34003473
NM_000314.8(PTEN):c.802-2dup rs1554825500
NM_000314.8(PTEN):c.802-4_802-3insG
NM_000314.8(PTEN):c.802-5_802-3dup rs34003473
NM_000314.8(PTEN):c.802-5_802-4insC
NM_000314.8(PTEN):c.802-6T>G rs1057522284
NM_000314.8(PTEN):c.802-7T>G rs2132281639
NM_000314.8(PTEN):c.802-7_802-6insC rs2132281643
NM_000314.8(PTEN):c.802-8_802-7insC
NM_000314.8(PTEN):c.802-9T>G rs1057520354
NM_000314.8(PTEN):c.816C>T (p.His272=) rs876659761
NM_000314.8(PTEN):c.819T>C (p.Phe273=) rs876658729
NM_000314.8(PTEN):c.828T>C (p.Asn276=) rs1554825510
NM_000314.8(PTEN):c.831A>G (p.Thr277=) rs376886779
NM_000314.8(PTEN):c.834C>T (p.Phe278=) rs867171992
NM_000314.8(PTEN):c.837C>T (p.Phe279=) rs2132281941
NM_000314.8(PTEN):c.843A>G (p.Pro281=) rs1554825518
NM_000314.8(PTEN):c.852G>A (p.Glu284=) rs1860620187
NM_000314.8(PTEN):c.858C>T (p.Thr286=) rs876660443
NM_000314.8(PTEN):c.861A>G (p.Ser287=) rs1564568288
NM_000314.8(PTEN):c.867A>G (p.Lys289=) rs2132282206
NM_000314.8(PTEN):c.870A>C (p.Val290=) rs529155918
NM_000314.8(PTEN):c.870A>G (p.Val290=) rs529155918
NM_000314.8(PTEN):c.876T>C (p.Asn292=) rs864622098
NM_000314.8(PTEN):c.879A>C (p.Gly293=) rs1060503843
NM_000314.8(PTEN):c.879A>G (p.Gly293=) rs1060503843
NM_000314.8(PTEN):c.87T>C (p.Tyr29=) rs1554893756
NM_000314.8(PTEN):c.882T>C (p.Ser294=) rs143335584
NM_000314.8(PTEN):c.883C>T (p.Leu295=) rs756152824
NM_000314.8(PTEN):c.885A>C (p.Leu295=) rs587780713
NM_000314.8(PTEN):c.885A>T (p.Leu295=)
NM_000314.8(PTEN):c.894A>G (p.Gln298=)
NM_000314.8(PTEN):c.900C>A (p.Ile300=) rs550122918
NM_000314.8(PTEN):c.903T>C (p.Asp301=) rs2132282573
NM_000314.8(PTEN):c.909T>A (p.Ile303=) rs878853945
NM_000314.8(PTEN):c.912C>T (p.Cys304=) rs2132282639
NM_000314.8(PTEN):c.921G>A (p.Glu307=) rs1860626419
NM_000314.8(PTEN):c.927A>G (p.Ala309=)
NM_000314.8(PTEN):c.933T>C (p.Asn311=) rs2132282863
NM_000314.8(PTEN):c.939G>A (p.Lys313=) rs562164491
NM_000314.8(PTEN):c.942A>G (p.Glu314=) rs1589666037
NM_000314.8(PTEN):c.946C>T (p.Leu316=) rs1554825577
NM_000314.8(PTEN):c.957T>C (p.Thr319=) rs2132283142
NM_000314.8(PTEN):c.966A>G (p.Lys322=) rs786201392
NM_000314.8(PTEN):c.96T>C (p.Ile32=)
NM_000314.8(PTEN):c.975T>C (p.Leu325=)
NM_000314.8(PTEN):c.984A>C (p.Ala328=)
NM_000314.8(PTEN):c.984A>G (p.Ala328=) rs2132283374
NM_000314.8(PTEN):c.993C>T (p.Asp331=) rs2132283468
NM_000314.8(PTEN):c.999C>T (p.Ala333=) rs2132283524
NM_000314.8(PTEN):c.9C>T (p.Ala3=) rs1554890328
NM_001126049.2(KLLN):c.-1007C>G rs587780001
NM_001126049.2(KLLN):c.-1007C>T rs587780001
NM_001126049.2(KLLN):c.-794_-783del rs587781340
NM_001126049.2(KLLN):c.-812G>A rs587779981
NM_001126049.2(KLLN):c.-955G>T rs587781128

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.