ClinVar Miner

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

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 147
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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_000314.6(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.-801G>A rs876661166
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.1011T>C (p.Phe337=) rs876659916
NM_000314.7(PTEN):c.1017A>G (p.Pro339=) rs1554825644
NM_000314.7(PTEN):c.1026+9A>C rs1554825657
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.1197A>G (p.Gln399=) rs374684043
NM_000314.7(PTEN):c.132C>T (p.Gly44=) rs150651961
NM_000314.7(PTEN):c.165-8_165-4del rs760571273
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.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.210-7_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.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.261A>G (p.Gln87=) rs149772796
NM_000314.7(PTEN):c.294A>G (p.Leu98=) rs770224289
NM_000314.7(PTEN):c.360A>C (p.Ala120=) rs759485888
NM_000314.7(PTEN):c.444A>C (p.Ala148=) rs778663292
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.635-16G>A rs750772657
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.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.72C>T (p.Asp24=) rs1320222638
NM_000314.7(PTEN):c.738G>A (p.Pro246=) rs774364894
NM_000314.7(PTEN):c.753T>A (p.Gly251=) rs1554825232
NM_000314.7(PTEN):c.795A>C (p.Leu265=) rs891648600
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.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_000314.8(PTEN):c.*3448_*3463dup
NM_000314.8(PTEN):c.*3449_*3463dup
NM_000314.8(PTEN):c.-280C>T
NM_000314.8(PTEN):c.209+84G>A
NM_000314.8(PTEN):c.254-34T>G
NM_000314.8(PTEN):c.492+31T>C
NM_000314.8(PTEN):c.493-27G>T
NM_000314.8(PTEN):c.802-34C>A
NM_000314.8(PTEN):c.802-5_802-3dup
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_001304717.5(PTEN):c.1546+38dup rs767896771
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.21G>A (p.Leu7=) rs974401612
NM_003002.4(SDHD):c.27C>A (p.Ala9=) rs1555186670
NM_003002.4(SDHD):c.405C>A (p.Thr135=) rs1555187606
NM_003002.4(SDHD):c.53-6C>T rs757454290
NM_003002.4(SDHD):c.9T>A (p.Val3=) rs1555186657
NM_005163.2(AKT1):c.1172+4A>C
NM_005163.2(AKT1):c.1293G>A (p.Ser431=) rs750104452
NM_005163.2(AKT1):c.176-8G>A rs1060504818
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.528C>T (p.Tyr176=) rs1422460834
NM_005163.2(AKT1):c.567+8C>T rs752874396
NM_005163.2(AKT1):c.693C>T (p.Asn231=) rs767346459
NM_005163.2(AKT1):c.705G>A (p.Leu235=) rs769090254
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+7del rs1555383494
NM_006218.4(PIK3CA):c.-138C>T
NM_006218.4(PIK3CA):c.1060-9T>C
NM_006218.4(PIK3CA):c.1146-30G>A
NM_006218.4(PIK3CA):c.1269A>T (p.Ala423=) rs761246978
NM_006218.4(PIK3CA):c.1356A>G (p.Leu452=) rs1553822208
NM_006218.4(PIK3CA):c.1485T>C (p.His495=) rs1480813252
NM_006218.4(PIK3CA):c.1635G>A (p.Glu545=) rs121913275
NM_006218.4(PIK3CA):c.168C>T (p.Tyr56=) rs200868796
NM_006218.4(PIK3CA):c.1743C>T (p.Ala581=)
NM_006218.4(PIK3CA):c.1747-9C>T rs201779641
NM_006218.4(PIK3CA):c.1767T>C (p.Asp589=)
NM_006218.4(PIK3CA):c.1959A>G (p.Leu653=) rs1553823720
NM_006218.4(PIK3CA):c.2049G>A (p.Arg683=) rs775001064
NM_006218.4(PIK3CA):c.2169G>A (p.Lys723=) rs1201015891
NM_006218.4(PIK3CA):c.2418T>C (p.Asp806=) rs199693043
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.353-2dup rs1181503590
NM_006218.4(PIK3CA):c.849C>T (p.Pro283=) rs1553821070

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