ClinVar Miner

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

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 65
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HGVS dbSNP
NM_000314.7(PTEN):c.-798G>C rs587779992
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.1107T>C (p.Val369=) rs1554826048
NM_000314.7(PTEN):c.204C>T (p.Tyr68=) rs773176120
NM_000314.7(PTEN):c.216T>C (p.Ala72=) rs1057520862
NM_000314.7(PTEN):c.254-10T>C rs1554898047
NM_000314.7(PTEN):c.294A>G (p.Leu98=) rs770224289
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>T (p.Leu193=) rs568851024
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+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_001126049.1(KLLN):c.-840G>A rs563841270
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.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.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.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.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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