ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 114
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.518G>A (p.Arg173His) rs121913294 0.00001
NM_000314.8(PTEN):c.77C>T (p.Thr26Ile) rs786204853 0.00001
NM_000314.4:c.(164+1_165-1)_(634+1_635-1)dup
NM_000314.4:c.545_546insALU
NM_000314.8(PTEN):c.1000_1003dup (p.Arg335fs)
NM_000314.8(PTEN):c.1004_1008del (p.Arg335fs)
NM_000314.8(PTEN):c.1026+1del rs398123313
NM_000314.8(PTEN):c.1027-1852A>G
NM_000314.8(PTEN):c.1034T>C (p.Leu345Pro) rs1554826024
NM_000314.8(PTEN):c.103A>G (p.Met35Val) rs876659443
NM_000314.8(PTEN):c.104T>C (p.Met35Thr) rs121909225
NM_000314.8(PTEN):c.106G>A (p.Gly36Arg) rs786204854
NM_000314.8(PTEN):c.1103del (p.Asp368fs)
NM_000314.8(PTEN):c.1127_1128insAT (p.His376fs) rs1554826052
NM_000314.8(PTEN):c.1137T>G (p.Tyr379Ter) rs1295420243
NM_000314.8(PTEN):c.1211G>C (p.Ter404Ser)
NM_000314.8(PTEN):c.1212A>T (p.Ter404Cys) rs876660879
NM_000314.8(PTEN):c.157GTA[1] (p.Val54del) rs1554893831
NM_000314.8(PTEN):c.165-1G>C rs786203847
NM_000314.8(PTEN):c.170T>C (p.Leu57Ser)
NM_000314.8(PTEN):c.182A>G (p.His61Arg) rs398123316
NM_000314.8(PTEN):c.202T>C (p.Tyr68His) rs398123317
NM_000314.8(PTEN):c.203A>C (p.Tyr68Ser) rs876660634
NM_000314.8(PTEN):c.209+2047A>G
NM_000314.8(PTEN):c.209+2T>G rs878853937
NM_000314.8(PTEN):c.209+4A>G rs2132232446
NM_000314.8(PTEN):c.210-12C>G
NM_000314.8(PTEN):c.210-1G>C rs1114167621
NM_000314.8(PTEN):c.210-1G>T rs1114167621
NM_000314.8(PTEN):c.210-2A>C rs1564828914
NM_000314.8(PTEN):c.210-2A>G rs1564828914
NM_000314.8(PTEN):c.253+5_253+13del
NM_000314.8(PTEN):c.275A>C (p.Asp92Ala) rs1114167623
NM_000314.8(PTEN):c.275A>G (p.Asp92Gly) rs1114167623
NM_000314.8(PTEN):c.275A>T (p.Asp92Val)
NM_000314.8(PTEN):c.277C>T (p.His93Tyr) rs786204927
NM_000314.8(PTEN):c.278A>G (p.His93Arg) rs121909238
NM_000314.8(PTEN):c.283C>A (p.Pro95Thr) rs1114167630
NM_000314.8(PTEN):c.283C>G (p.Pro95Ala)
NM_000314.8(PTEN):c.287C>T (p.Pro96Leu) rs1554898074
NM_000314.8(PTEN):c.293T>G (p.Leu98Arg) rs781647403
NM_000314.8(PTEN):c.302T>A (p.Ile101Asn) rs1339631701
NM_000314.8(PTEN):c.313T>G (p.Cys105Gly)
NM_000314.8(PTEN):c.320A>G (p.Asp107Gly) rs786204858
NM_000314.8(PTEN):c.323T>C (p.Leu108Pro) rs1064793243
NM_000314.8(PTEN):c.334C>G (p.Leu112Val) rs2132242699
NM_000314.8(PTEN):c.335T>A (p.Leu112Gln)
NM_000314.8(PTEN):c.353A>C (p.His118Pro)
NM_000314.8(PTEN):c.355G>C (p.Val119Leu) rs139767111
NM_000314.8(PTEN):c.355G>T (p.Val119Phe) rs139767111
NM_000314.8(PTEN):c.359C>A (p.Ala120Glu) rs1114167647
NM_000314.8(PTEN):c.367C>G (p.His123Asp) rs786204931
NM_000314.8(PTEN):c.370T>A (p.Cys124Ser) rs121909223
NM_000314.8(PTEN):c.370T>G (p.Cys124Gly) rs121909223
NM_000314.8(PTEN):c.371G>A (p.Cys124Tyr) rs876660535
NM_000314.8(PTEN):c.371G>C (p.Cys124Ser)
NM_000314.8(PTEN):c.377C>T (p.Ala126Val) rs1114167656
NM_000314.8(PTEN):c.379G>A (p.Gly127Arg) rs587781255
NM_000314.8(PTEN):c.380G>A (p.Gly127Glu) rs398123322
NM_000314.8(PTEN):c.382A>G (p.Lys128Glu) rs1554898138
NM_000314.8(PTEN):c.384G>C (p.Lys128Asn) rs1114167645
NM_000314.8(PTEN):c.389G>C (p.Arg130Pro) rs121909229
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000314.8(PTEN):c.395G>T (p.Gly132Val) rs121909241
NM_000314.8(PTEN):c.39_41del (p.Arg15del) rs1114167625
NM_000314.8(PTEN):c.402G>T (p.Met134Ile) rs1114167676
NM_000314.8(PTEN):c.404T>A (p.Ile135Lys) rs370795352
NM_000314.8(PTEN):c.405A>G (p.Ile135Met)
NM_000314.8(PTEN):c.408T>G (p.Cys136Trp) rs869312776
NM_000314.8(PTEN):c.422A>C (p.His141Pro) rs863224666
NM_000314.8(PTEN):c.45A>C (p.Arg15Ser) rs1064794096
NM_000314.8(PTEN):c.463T>A (p.Tyr155Asn) rs398123325
NM_000314.8(PTEN):c.46T>C (p.Tyr16His) rs1064796078
NM_000314.8(PTEN):c.475A>G (p.Arg159Gly) rs786202688
NM_000314.8(PTEN):c.476G>T (p.Arg159Met) rs1114167673
NM_000314.8(PTEN):c.492+1G>A rs1554898242
NM_000314.8(PTEN):c.492+1G>T rs1554898242
NM_000314.8(PTEN):c.493-2A>C rs587781784
NM_000314.8(PTEN):c.493-2A>T rs587781784
NM_000314.8(PTEN):c.493G>A (p.Gly165Arg) rs587782603
NM_000314.8(PTEN):c.497T>A (p.Val166Glu) rs1554900515
NM_000314.8(PTEN):c.511C>G (p.Gln171Glu) rs786204864
NM_000314.8(PTEN):c.512A>G (p.Gln171Arg) rs786204865
NM_000314.8(PTEN):c.518G>C (p.Arg173Pro) rs121913294
NM_000314.8(PTEN):c.518G>T (p.Arg173Leu) rs121913294
NM_000314.8(PTEN):c.526TAT[2] (p.Tyr178del) rs587780711
NM_000314.8(PTEN):c.529T>G (p.Tyr177Asp) rs1860418425
NM_000314.8(PTEN):c.530A>G (p.Tyr177Cys) rs1564837839
NM_000314.8(PTEN):c.584T>C (p.Phe195Ser)
NM_000314.8(PTEN):c.598T>G (p.Phe200Val) rs587782473
NM_000314.8(PTEN):c.634+2_634+3insC rs1554900673
NM_000314.8(PTEN):c.634+3_634+6del rs1589659775
NM_000314.8(PTEN):c.634+5G>C rs138336847
NM_000314.8(PTEN):c.635-1G>T rs876661024
NM_000314.8(PTEN):c.635-3C>G rs1085308056
NM_000314.8(PTEN):c.69_74del (p.22DL[1])
NM_000314.8(PTEN):c.70G>A (p.Asp24Asn) rs786201995
NM_000314.8(PTEN):c.711_722del (p.Lys237_Phe241delinsAsn)
NM_000314.8(PTEN):c.723T>G (p.Phe241Leu) rs17849090
NM_000314.8(PTEN):c.738_743del (p.Leu247_Pro248del) rs1114167666
NM_000314.8(PTEN):c.752G>T (p.Gly251Val) rs1554825226
NM_000314.8(PTEN):c.752_753delinsTG (p.Gly251Val) rs1114167664
NM_000314.8(PTEN):c.755A>T (p.Asp252Val) rs121909239
NM_000314.8(PTEN):c.761A>C (p.Lys254Thr) rs1114167633
NM_000314.8(PTEN):c.764T>A (p.Val255Glu) rs1564566998
NM_000314.8(PTEN):c.80-2A>C rs2132187034
NM_000314.8(PTEN):c.80-5_82del rs1589617114
NM_000314.8(PTEN):c.802-1G>A rs1257124719
NM_000314.8(PTEN):c.80A>G (p.Tyr27Cys) rs886041877
NM_000314.8(PTEN):c.815A>C (p.His272Pro) rs1114167648
NM_000314.8(PTEN):c.830C>G (p.Thr277Arg) rs398123329
NM_000314.8(PTEN):c.929A>G (p.Asp310Gly) rs1564568473
NM_000314.8(PTEN):c.94ATT[1] (p.Ile33del) rs1554893765
NM_000314.8(PTEN):c.959T>C (p.Leu320Ser) rs1114167667

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