ClinVar Miner

List of variants in gene PTEN reported as likely pathogenic by Ambry Genetics

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Gene type:
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Total variants: 53
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HGVS dbSNP
NM_000314.4(PTEN):c.202T>C (p.Tyr68His) rs398123317
NM_000314.4(PTEN):c.402G>T (p.Met134Ile) rs1114167676
NM_000314.4(PTEN):c.475A>G (p.Arg159Gly) rs786202688
NM_000314.4(PTEN):c.493G>A (p.Gly165Arg) rs587782603
NM_000314.6(PTEN):c.1026+1G>A rs786201041
NM_000314.6(PTEN):c.1026+1G>C rs786201041
NM_000314.6(PTEN):c.1034T>C (p.Leu345Pro) rs1554826024
NM_000314.6(PTEN):c.104T>C (p.Met35Thr) rs121909225
NM_000314.6(PTEN):c.1127_1128insAT (p.His376Glnfs) rs1554826052
NM_000314.6(PTEN):c.1212A>T (p.Ter404Cys) rs876660879
NM_000314.6(PTEN):c.144C>G (p.Asn48Lys) rs762518389
NM_000314.6(PTEN):c.160_162delGTA (p.Val54del) rs1554893831
NM_000314.6(PTEN):c.182A>G (p.His61Arg) rs398123316
NM_000314.6(PTEN):c.203A>C (p.Tyr68Ser) rs876660634
NM_000314.6(PTEN):c.209+1G>T rs1554897280
NM_000314.6(PTEN):c.210-1G>C rs1114167621
NM_000314.6(PTEN):c.210-1G>T rs1114167621
NM_000314.6(PTEN):c.275A>C (p.Asp92Ala) rs1114167623
NM_000314.6(PTEN):c.323T>C (p.Leu108Pro) rs1064793243
NM_000314.6(PTEN):c.355G>C (p.Val119Leu) rs139767111
NM_000314.6(PTEN):c.355G>T (p.Val119Phe) rs139767111
NM_000314.6(PTEN):c.359C>A (p.Ala120Glu) rs1114167647
NM_000314.6(PTEN):c.367C>G (p.His123Asp) rs786204931
NM_000314.6(PTEN):c.370T>G (p.Cys124Gly) rs121909223
NM_000314.6(PTEN):c.371G>A (p.Cys124Tyr) rs876660535
NM_000314.6(PTEN):c.377C>T (p.Ala126Val) rs1114167656
NM_000314.6(PTEN):c.380G>A (p.Gly127Glu) rs398123322
NM_000314.6(PTEN):c.384G>C (p.Lys128Asn) rs1114167645
NM_000314.6(PTEN):c.389G>C (p.Arg130Pro) rs121909229
NM_000314.6(PTEN):c.395G>T (p.Gly132Val) rs121909241
NM_000314.6(PTEN):c.39_41delAAG (p.Arg15del) rs1114167625
NM_000314.6(PTEN):c.404T>A (p.Ile135Lys) rs370795352
NM_000314.6(PTEN):c.45A>C (p.Arg15Ser) rs1064794096
NM_000314.6(PTEN):c.46T>C (p.Tyr16His) rs1064796078
NM_000314.6(PTEN):c.476G>T (p.Arg159Met) rs1114167673
NM_000314.6(PTEN):c.493-2A>T rs587781784
NM_000314.6(PTEN):c.497T>A (p.Val166Glu) rs1554900515
NM_000314.6(PTEN):c.517C>T (p.Arg173Cys) rs121913293
NM_000314.6(PTEN):c.518G>C (p.Arg173Pro) rs121913294
NM_000314.6(PTEN):c.598T>G (p.Phe200Val) rs587782473
NM_000314.6(PTEN):c.635-3C>G rs1085308056
NM_000314.6(PTEN):c.70G>A (p.Asp24Asn) rs786201995
NM_000314.6(PTEN):c.738_743delGTTACC (p.Leu247_Pro248del) rs1114167666
NM_000314.6(PTEN):c.752_753delGTinsTG (p.Gly251Val) rs1114167664
NM_000314.6(PTEN):c.761A>C (p.Lys254Thr) rs1114167633
NM_000314.6(PTEN):c.802-2A>G rs587782455
NM_000314.6(PTEN):c.80A>G (p.Tyr27Cys) rs886041877
NM_000314.6(PTEN):c.815A>C (p.His272Pro) rs1114167648
NM_000314.6(PTEN):c.830C>G (p.Thr277Arg) rs398123329
NM_000314.6(PTEN):c.865A>G (p.Lys289Glu) rs562015640
NM_000314.7(PTEN):c.103A>G (p.Met35Val) rs876659443
NM_000314.7(PTEN):c.518G>T (p.Arg173Leu) rs121913294
NM_000314.7(PTEN):c.520T>A (p.Tyr174Asn) rs587782316

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