ClinVar Miner

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

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 130
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HGVS dbSNP
NM_000314.6(PTEN):c.-1027C>A rs587781128
NM_000314.6(PTEN):c.165-13_165-10delGTTT rs786204877
NM_000314.7(PTEN):c.*1131del rs547262170
NM_000314.7(PTEN):c.*1237A>G rs547879223
NM_000314.7(PTEN):c.*1499C>T rs180953647
NM_000314.7(PTEN):c.*1565C>A rs34140758
NM_000314.7(PTEN):c.*1620T>C rs568474293
NM_000314.7(PTEN):c.*1702G>A rs150265244
NM_000314.7(PTEN):c.*1745G>A rs116248217
NM_000314.7(PTEN):c.*1945G>A rs567800059
NM_000314.7(PTEN):c.*1954A>T rs35914322
NM_000314.7(PTEN):c.*1955T>A rs41284072
NM_000314.7(PTEN):c.*2162A>G rs574993688
NM_000314.7(PTEN):c.*2173C>T rs186996550
NM_000314.7(PTEN):c.*2204T>A rs552431817
NM_000314.7(PTEN):c.*2415C>G rs34761252
NM_000314.7(PTEN):c.*2551G>A rs537283839
NM_000314.7(PTEN):c.*282G>A rs576872432
NM_000314.7(PTEN):c.*353C>T rs181234898
NM_000314.7(PTEN):c.*421T>C rs141648241
NM_000314.7(PTEN):c.*601A>G rs371547288
NM_000314.7(PTEN):c.*666dup rs543873570
NM_000314.7(PTEN):c.*788T>C rs138309082
NM_000314.7(PTEN):c.-152A>G rs369849061
NM_000314.7(PTEN):c.-165C>G rs575260016
NM_000314.7(PTEN):c.-284C>T rs552470098
NM_000314.7(PTEN):c.-533G>T rs886047385
NM_000314.7(PTEN):c.-674C>T rs876661258
NM_000314.7(PTEN):c.-798G>C rs587779992
NM_000314.7(PTEN):c.-909T>C rs550385924
NM_000314.7(PTEN):c.-975G>C rs587780001
NM_000314.7(PTEN):c.-9C>G rs11202592
NM_000314.7(PTEN):c.1008C>T (p.Tyr336=) rs786201816
NM_000314.7(PTEN):c.1011T>C (p.Phe337=) rs876659916
NM_000314.7(PTEN):c.1017A>G (p.Pro339=) rs1554825644
NM_000314.7(PTEN):c.1026+10A>G rs767777911
NM_000314.7(PTEN):c.1026+9A>C rs1554825657
NM_000314.7(PTEN):c.1041C>T (p.Phe347=) rs1554826029
NM_000314.7(PTEN):c.1050A>G (p.Thr350=) rs769324650
NM_000314.7(PTEN):c.1062G>A (p.Pro354=) rs786202751
NM_000314.7(PTEN):c.1089T>C (p.Thr363=) rs864622690
NM_000314.7(PTEN):c.1092T>G (p.Ser364=) rs1355576298
NM_000314.7(PTEN):c.1104T>C (p.Asp368=) rs35979531
NM_000314.7(PTEN):c.1107T>C (p.Val369=) rs1554826048
NM_000314.7(PTEN):c.1116T>C (p.Asn372=) rs1060503845
NM_000314.7(PTEN):c.114T>G (p.Pro38=) rs748040144
NM_000314.7(PTEN):c.1161A>G (p.Pro387=) rs1057523975
NM_000314.7(PTEN):c.1197A>G (p.Gln399=) rs374684043
NM_000314.7(PTEN):c.132C>T (p.Gly44=) rs150651961
NM_000314.7(PTEN):c.165-7T>C rs572375431
NM_000314.7(PTEN):c.165-9T>G rs878853934
NM_000314.7(PTEN):c.174T>C (p.Asp58=) rs769719835
NM_000314.7(PTEN):c.177A>G (p.Ser59=) rs878853935
NM_000314.7(PTEN):c.18A>G (p.Lys6=) rs876660391
NM_000314.7(PTEN):c.204C>T (p.Tyr68=) rs773176120
NM_000314.7(PTEN):c.209+10T>C rs770451470
NM_000314.7(PTEN):c.209+9_209+10delinsCC rs1060503841
NM_000314.7(PTEN):c.210-5T>C rs863224358
NM_000314.7(PTEN):c.210-7_210-3del rs587780544
NM_000314.7(PTEN):c.210-9T>C rs751744545
NM_000314.7(PTEN):c.216T>C (p.Ala72=) rs1057520862
NM_000314.7(PTEN):c.222A>G (p.Arg74=) rs781542973
NM_000314.7(PTEN):c.231C>T (p.Asp77=) rs755953294
NM_000314.7(PTEN):c.234C>T (p.Thr78=) rs35917308
NM_000314.7(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000314.7(PTEN):c.254-10T>C rs1554898047
NM_000314.7(PTEN):c.254-39G>T rs35034871
NM_000314.7(PTEN):c.254-7dup rs1060503846
NM_000314.7(PTEN):c.258A>G (p.Ala86=) rs587780710
NM_000314.7(PTEN):c.261A>G (p.Gln87=) rs149772796
NM_000314.7(PTEN):c.294A>G (p.Leu98=) rs770224289
NM_000314.7(PTEN):c.321T>C (p.Asp107=) rs372876243
NM_000314.7(PTEN):c.360A>C (p.Ala120=) rs759485888
NM_000314.7(PTEN):c.411A>G (p.Ala137=) rs144545031
NM_000314.7(PTEN):c.426G>C (p.Arg142=) rs878853939
NM_000314.7(PTEN):c.444A>C (p.Ala148=) rs778663292
NM_000314.7(PTEN):c.48T>C (p.Tyr16=) rs587782187
NM_000314.7(PTEN):c.492+7T>G rs373077590
NM_000314.7(PTEN):c.493-6C>T rs1554900496
NM_000314.7(PTEN):c.493-9G>T rs1554900490
NM_000314.7(PTEN):c.522T>C (p.Tyr174=) rs786201867
NM_000314.7(PTEN):c.525G>C (p.Val175=) rs1554900563
NM_000314.7(PTEN):c.54G>A (p.Glu18=) rs1554890388
NM_000314.7(PTEN):c.576A>G (p.Ala192=) rs1554900619
NM_000314.7(PTEN):c.579G>A (p.Leu193=) rs568851024
NM_000314.7(PTEN):c.579G>T (p.Leu193=) rs568851024
NM_000314.7(PTEN):c.585T>C (p.Phe195=) rs1554900624
NM_000314.7(PTEN):c.635-6A>G rs1009588340
NM_000314.7(PTEN):c.651C>T (p.Val217=) rs886038278
NM_000314.7(PTEN):c.660A>C (p.Leu220=) rs1352585442
NM_000314.7(PTEN):c.66C>T (p.Asp22=) rs786201335
NM_000314.7(PTEN):c.681C>T (p.Ser227=) rs768662424
NM_000314.7(PTEN):c.6A>C (p.Thr2=) rs1168115184
NM_000314.7(PTEN):c.720C>T (p.Tyr240=) rs190070312
NM_000314.7(PTEN):c.723T>C (p.Phe241=) rs17849090
NM_000314.7(PTEN):c.72C>T (p.Asp24=) rs1320222638
NM_000314.7(PTEN):c.738G>A (p.Pro246=) rs774364894
NM_000314.7(PTEN):c.741A>G (p.Leu247=) rs1554825217
NM_000314.7(PTEN):c.747G>A (p.Val249=) rs1060503840
NM_000314.7(PTEN):c.750T>C (p.Cys250=) rs767623493
NM_000314.7(PTEN):c.753T>A (p.Gly251=) rs1554825232
NM_000314.7(PTEN):c.759C>A (p.Ile253=) rs752250585
NM_000314.7(PTEN):c.759C>T (p.Ile253=) rs752250585
NM_000314.7(PTEN):c.75G>A (p.Leu25=) rs786201506
NM_000314.7(PTEN):c.774C>T (p.Phe258=) rs1554825246
NM_000314.7(PTEN):c.783G>A (p.Gln261=) rs760146269
NM_000314.7(PTEN):c.79+7A>G rs374331677
NM_000314.7(PTEN):c.79+7A>T rs374331677
NM_000314.7(PTEN):c.795A>C (p.Leu265=) rs891648600
NM_000314.7(PTEN):c.80-5C>T rs1060503842
NM_000314.7(PTEN):c.80-6A>G rs1554893744
NM_000314.7(PTEN):c.80-8del rs1060503844
NM_000314.7(PTEN):c.801+23G>A rs116160352
NM_000314.7(PTEN):c.801+7A>T rs1211730867
NM_000314.7(PTEN):c.801+8C>G rs1057517630
NM_000314.7(PTEN):c.801+9T>C rs1060503839
NM_000314.7(PTEN):c.819T>C (p.Phe273=) rs876658729
NM_000314.7(PTEN):c.828T>C (p.Asn276=) rs1554825510
NM_000314.7(PTEN):c.843A>G (p.Pro281=) rs1554825518
NM_000314.7(PTEN):c.855A>G (p.Glu285=) rs751888926
NM_000314.7(PTEN):c.870A>G (p.Val290=) rs529155918
NM_000314.7(PTEN):c.876T>C (p.Asn292=) rs864622098
NM_000314.7(PTEN):c.879A>C (p.Gly293=) rs1060503843
NM_000314.7(PTEN):c.885A>G (p.Leu295=) rs587780713
NM_000314.7(PTEN):c.900C>T (p.Ile300=) rs550122918
NM_000314.7(PTEN):c.909T>A (p.Ile303=) rs878853945
NM_000314.7(PTEN):c.939G>A (p.Lys313=) rs562164491
NM_000314.7(PTEN):c.966A>G (p.Lys322=) rs786201392
NM_000314.7(PTEN):c.981A>G (p.Lys327=) rs772872626
NM_001126049.1(KLLN):c.-956G>T rs34149102

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