ClinVar Miner

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

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 264
Download table as spreadsheet
HGVS dbSNP
NM_000314.6(PTEN):c.-1027C>A rs587781128
NM_000314.6(PTEN):c.1026+38dupT rs767896771
NM_000314.6(PTEN):c.165-13_165-10delGTTT rs786204877
NM_000314.6(PTEN):c.79+23_79+25delCTC rs1221062997
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.-499_-497GGC[6] rs1237307954
NM_000314.7(PTEN):c.-533G>T rs886047385
NM_000314.7(PTEN):c.-674C>T rs876661258
NM_000314.7(PTEN):c.-734G>A rs886047384
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.165-8_165-4del rs760571273
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.210-12C>T rs766570103
NM_000314.7(PTEN):c.210-17T>C rs750987148
NM_000314.7(PTEN):c.210-26A>G rs776849737
NM_000314.7(PTEN):c.210-26A>T rs776849737
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.493-12dup rs756623620
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.635-16G>A rs750772657
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.802-12T>C rs587781129
NM_000314.7(PTEN):c.802-54_802-16del rs1028746954
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.838A>G (p.Ile280Val) rs1474354667
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.-794_-783del rs587781340
NM_001126049.1(KLLN):c.-840G>A rs563841270
NM_001126049.1(KLLN):c.-898G>A rs538728843
NM_001126049.1(KLLN):c.-956G>T rs34149102
NM_003000.2(SDHB):c.170A>G (p.His57Arg) rs35962811
NM_003002.4(SDHD):c.114A>G (p.Arg38=) rs1555186794
NM_003002.4(SDHD):c.141G>A (p.Gln47=) rs1217254088
NM_003002.4(SDHD):c.159G>A (p.Pro53=) rs201368675
NM_003002.4(SDHD):c.170-10C>T rs952278127
NM_003002.4(SDHD):c.18G>A (p.Arg6=) rs200895313
NM_003002.4(SDHD):c.19C>T (p.Leu7=) rs1337542194
NM_003002.4(SDHD):c.21G>A (p.Leu7=) rs974401612
NM_003002.4(SDHD):c.228C>T (p.Leu76=) rs148634289
NM_003002.4(SDHD):c.270G>A (p.Ala90=) rs766656463
NM_003002.4(SDHD):c.270G>C (p.Ala90=) rs766656463
NM_003002.4(SDHD):c.27C>A (p.Ala9=) rs1555186670
NM_003002.4(SDHD):c.282C>G (p.Ser94=) rs781182616
NM_003002.4(SDHD):c.282C>T (p.Ser94=) rs781182616
NM_003002.4(SDHD):c.297C>T (p.Leu99=) rs749657880
NM_003002.4(SDHD):c.314+8T>C rs199645781
NM_003002.4(SDHD):c.315-9T>G rs911853469
NM_003002.4(SDHD):c.318C>A (p.Gly106=) rs878854592
NM_003002.4(SDHD):c.342T>C (p.Tyr114=) rs1050032491
NM_003002.4(SDHD):c.405C>A (p.Thr135=) rs1555187606
NM_003002.4(SDHD):c.42A>G (p.Leu14=) rs878854593
NM_003002.4(SDHD):c.435C>T (p.His145=) rs200062830
NM_003002.4(SDHD):c.53-6C>T rs757454290
NM_003002.4(SDHD):c.57G>A (p.Leu19=) rs560625389
NM_003002.4(SDHD):c.9T>A (p.Val3=) rs1555186657
NM_005163.2(AKT1):c.1038C>T (p.Arg346=) rs1060504819
NM_005163.2(AKT1):c.1134C>T (p.Ser378=) rs369527283
NM_005163.2(AKT1):c.1194C>T (p.Asp398=) rs151254374
NM_005163.2(AKT1):c.120G>A (p.Glu40=) rs370287382
NM_005163.2(AKT1):c.1227C>T (p.Ala409=) rs141303557
NM_005163.2(AKT1):c.1233C>T (p.Ile411=) rs375901448
NM_005163.2(AKT1):c.126G>A (p.Pro42=) rs375645311
NM_005163.2(AKT1):c.1290G>A (p.Thr430=) rs779447501
NM_005163.2(AKT1):c.1293G>A (p.Ser431=) rs750104452
NM_005163.2(AKT1):c.1329G>A (p.Thr443=) rs376893212
NM_005163.2(AKT1):c.1341C>A (p.Ile447=) rs1060504820
NM_005163.2(AKT1):c.1380T>C (p.Cys460=) rs139394285
NM_005163.2(AKT1):c.1431C>T (p.Ser477=) rs200213561
NM_005163.2(AKT1):c.176-4G>A rs776399604
NM_005163.2(AKT1):c.176-8G>A rs1060504818
NM_005163.2(AKT1):c.195G>A (p.Thr65=) rs768384015
NM_005163.2(AKT1):c.267T>C (p.His89=) rs142646145
NM_005163.2(AKT1):c.315T>C (p.Thr105=) rs767715614
NM_005163.2(AKT1):c.406G>A (p.Val136Met) rs778376616
NM_005163.2(AKT1):c.436-4A>G rs1060504821
NM_005163.2(AKT1):c.438C>T (p.Thr146=) rs145780379
NM_005163.2(AKT1):c.457C>T (p.Leu153=) rs149803079
NM_005163.2(AKT1):c.46+10C>G rs372014221
NM_005163.2(AKT1):c.46+10C>T rs372014221
NM_005163.2(AKT1):c.47-9C>T rs776342530
NM_005163.2(AKT1):c.525C>T (p.Tyr175=) rs774828129
NM_005163.2(AKT1):c.528C>T (p.Tyr176=) rs1422460834
NM_005163.2(AKT1):c.567+8C>T rs752874396
NM_005163.2(AKT1):c.570C>T (p.Asp190=) rs780207480
NM_005163.2(AKT1):c.660C>T (p.His220=) rs141168205
NM_005163.2(AKT1):c.687C>T (p.Tyr229=) rs769696222
NM_005163.2(AKT1):c.693C>T (p.Asn231=) rs767346459
NM_005163.2(AKT1):c.703-4G>A rs776642823
NM_005163.2(AKT1):c.703-5C>T rs377077146
NM_005163.2(AKT1):c.705G>A (p.Leu235=) rs769090254
NM_005163.2(AKT1):c.705G>T (p.Leu235=) rs769090254
NM_005163.2(AKT1):c.738C>T (p.Ser246=) rs368667384
NM_005163.2(AKT1):c.783G>A (p.Leu261=) rs143933508
NM_005163.2(AKT1):c.81C>T (p.Phe27=) rs749781543
NM_005163.2(AKT1):c.822C>T (p.Asp274=) rs1555383496
NM_005163.2(AKT1):c.828+7delT rs1555383494
NM_005163.2(AKT1):c.855C>T (p.Asp285=) rs149484260
NM_005163.2(AKT1):c.876C>T (p.Asp292=) rs761942512
NM_005163.2(AKT1):c.879C>T (p.Phe293=) rs139200289
NM_005163.2(AKT1):c.906C>T (p.Asp302=) rs746001369
NM_005163.2(AKT1):c.951C>A (p.Ala317=) rs17846831
NM_005163.2(AKT1):c.9C>T (p.Asp3=) rs56217512
NM_006218.3(PIK3CA):c.353-2dup rs1181503590
NM_006218.4(PIK3CA):c.1029C>T (p.Tyr343=) rs375577477
NM_006218.4(PIK3CA):c.1056T>C (p.Asp352=) rs1131681
NM_006218.4(PIK3CA):c.1215C>T (p.Ser405=) rs199689419
NM_006218.4(PIK3CA):c.1254A>G (p.Glu418=) rs1060503810
NM_006218.4(PIK3CA):c.1269A>T (p.Ala423=) rs761246978
NM_006218.4(PIK3CA):c.1305T>C (p.Thr435=) rs1060503812
NM_006218.4(PIK3CA):c.1356A>G (p.Leu452=) rs1553822208
NM_006218.4(PIK3CA):c.1449G>C (p.Val483=) rs202186428
NM_006218.4(PIK3CA):c.1485T>C (p.His495=) rs1480813252
NM_006218.4(PIK3CA):c.1512A>T (p.Ala504=) rs201108344
NM_006218.4(PIK3CA):c.1530C>T (p.His510=) rs200934230
NM_006218.4(PIK3CA):c.1563T>C (p.Asn521=) rs756835265
NM_006218.4(PIK3CA):c.1635G>A (p.Glu545=) rs121913275
NM_006218.4(PIK3CA):c.1686C>T (p.Pro562=) rs201815216
NM_006218.4(PIK3CA):c.168C>T (p.Tyr56=) rs200868796
NM_006218.4(PIK3CA):c.1747-9C>T rs201779641
NM_006218.4(PIK3CA):c.1959A>G (p.Leu653=) rs1553823720
NM_006218.4(PIK3CA):c.2013A>G (p.Leu671=) rs1060503813
NM_006218.4(PIK3CA):c.2015+9A>G rs200768351
NM_006218.4(PIK3CA):c.2040T>C (p.Val680=) rs201402676
NM_006218.4(PIK3CA):c.2049G>A (p.Arg683=) rs775001064
NM_006218.4(PIK3CA):c.210C>T (p.Phe70=) rs760094170
NM_006218.4(PIK3CA):c.2118C>T (p.Val706=) rs373861259
NM_006218.4(PIK3CA):c.213A>G (p.Val71=) rs879254355
NM_006218.4(PIK3CA):c.2169G>A (p.Lys723=) rs1201015891
NM_006218.4(PIK3CA):c.225A>G (p.Gln75=) rs202176973
NM_006218.4(PIK3CA):c.2295-8T>C rs754640150
NM_006218.4(PIK3CA):c.2301A>G (p.Glu767=) rs769405239
NM_006218.4(PIK3CA):c.2417-4T>G rs1060503815
NM_006218.4(PIK3CA):c.2439A>C (p.Thr813=) rs201600506
NM_006218.4(PIK3CA):c.2439A>G (p.Thr813=) rs201600506
NM_006218.4(PIK3CA):c.2514T>C (p.Cys838=) rs202175608
NM_006218.4(PIK3CA):c.252T>C (p.Asp84=) rs1060503814
NM_006218.4(PIK3CA):c.2649C>T (p.Asp883=) rs199826066
NM_006218.4(PIK3CA):c.2775C>T (p.Asp925=) rs769962451
NM_006218.4(PIK3CA):c.2856G>A (p.Val952=) rs1282232507
NM_006218.4(PIK3CA):c.2919G>A (p.Lys973=) rs369770518
NM_006218.4(PIK3CA):c.3198A>G (p.Ala1066=) rs201911086
NM_006218.4(PIK3CA):c.529T>C (p.Leu177=) rs759712592
NM_006218.4(PIK3CA):c.636C>T (p.Asn212=) rs1060503811
NM_006218.4(PIK3CA):c.705C>A (p.Ser235=) rs879254356
NM_006218.4(PIK3CA):c.849C>T (p.Pro283=) rs1553821070
NM_006363.6(SEC23B):c.1317G>T (p.Glu439Asp) rs147410912
NM_021930.6(RINT1):c.330A>G (p.Ala110=) rs374658950

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