ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 83
Download table as spreadsheet
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.-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.132C>T (p.Gly44=) rs150651961
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.210-7_210-3del rs587780544
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.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.493-6C>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.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.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.819T>C (p.Phe273=) rs876658729
NM_000314.7(PTEN):c.828T>C (p.Asn276=) rs1554825510
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.-956G>T rs34149102

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.