ClinVar Miner

List of variants in gene PTEN reported as uncertain significance for Hereditary cancer-predisposing syndrome

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Gene type:
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Total variants: 214
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HGVS dbSNP
LRG_311t1:c.-(1087_1062)del
LRG_311t1:c.-(903_882)dup
NM_000314.4(PTEN):c.-834C>T rs587779994
NM_000314.4(PTEN):c.-868G>C rs587782133
NM_000314.4(PTEN):c.-897C>G rs587781981
NM_000314.4(PTEN):c.-943C>T rs587779999
NM_000314.4(PTEN):c.-972C>T rs587781603
NM_000314.4(PTEN):c.-994_-984dupTCGCCTCCCGC rs587782811
NM_000314.4(PTEN):c.1052_1054delTAG (p.Val351del) rs587780003
NM_000314.4(PTEN):c.1069C>A (p.Pro357Thr) rs876661264
NM_000314.4(PTEN):c.1078A>G (p.Ser360Gly) rs587781273
NM_000314.4(PTEN):c.1105G>A (p.Val369Ile) rs587782224
NM_000314.4(PTEN):c.1133_1136delGATA (p.Arg378Ilefs) rs1064794878
NM_000314.4(PTEN):c.350A>G (p.Asn117Ser) rs551221430
NM_000314.4(PTEN):c.422A>G (p.His141Arg) rs863224666
NM_000314.4(PTEN):c.492G>A (p.Lys164=) rs146629065
NM_000314.4(PTEN):c.538T>C (p.Tyr180His) rs746280047
NM_000314.4(PTEN):c.560A>G (p.Asp187Gly) rs786204943
NM_000314.4(PTEN):c.610C>G (p.Pro204Ala) rs786204868
NM_000314.4(PTEN):c.685T>A (p.Ser229Thr) rs587781998
NM_000314.4(PTEN):c.700C>T (p.Arg234Trp) rs786201730
NM_000314.4(PTEN):c.887G>A (p.Cys296Tyr) rs1060500121
NM_000314.4(PTEN):c.889G>T (p.Asp297Tyr) rs370064195
NM_000314.6(PTEN):c.*3T>A rs1554826068
NM_000314.6(PTEN):c.-1002C>A rs786202476
NM_000314.6(PTEN):c.-1029T>G rs587781524
NM_000314.6(PTEN):c.-6C>A rs1554890322
NM_000314.6(PTEN):c.-733dupG rs786204891
NM_000314.6(PTEN):c.-765G>A rs587782580
NM_000314.6(PTEN):c.-770G>A rs786202516
NM_000314.6(PTEN):c.-771A>C rs587781883
NM_000314.6(PTEN):c.-831G>A rs587781938
NM_000314.6(PTEN):c.-835T>G rs587782253
NM_000314.6(PTEN):c.-837C>T rs786201900
NM_000314.6(PTEN):c.-839C>G rs587781920
NM_000314.6(PTEN):c.-862G>T rs587781706
NM_000314.6(PTEN):c.-868_-846dup23 rs786204889
NM_000314.6(PTEN):c.-887T>C rs587782793
NM_000314.6(PTEN):c.-921G>A rs786203676
NM_000314.6(PTEN):c.-930G>A rs587781959
NM_000314.6(PTEN):c.-933G>A rs786203419
NM_000314.6(PTEN):c.-934G>C rs786203534
NM_000314.6(PTEN):c.-979C>G rs786203535
NM_000314.6(PTEN):c.-987C>T rs786202097
NM_000314.6(PTEN):c.1001A>G (p.Asn334Ser) rs1206321984
NM_000314.6(PTEN):c.1002C>G (p.Asn334Lys) rs1554825620
NM_000314.6(PTEN):c.1010T>A (p.Phe337Tyr) rs1554825641
NM_000314.6(PTEN):c.1018A>G (p.Asn340Asp) rs759852661
NM_000314.6(PTEN):c.1033C>G (p.Leu345Val) rs1114167639
NM_000314.6(PTEN):c.1037A>G (p.Tyr346Cys) rs1554826026
NM_000314.6(PTEN):c.1061C>T (p.Pro354Leu) rs375709098
NM_000314.6(PTEN):c.1066A>G (p.Asn356Asp) rs587782345
NM_000314.6(PTEN):c.1074G>C (p.Glu358Asp) rs876659464
NM_000314.6(PTEN):c.107G>A (p.Gly36Glu) rs1554893792
NM_000314.6(PTEN):c.1081A>C (p.Ser361Arg) rs1472028496
NM_000314.6(PTEN):c.1087A>G (p.Thr363Ala) rs765416558
NM_000314.6(PTEN):c.1104T>A (p.Asp368Glu) rs35979531
NM_000314.6(PTEN):c.1115A>G (p.Asn372Ser) rs1370349057
NM_000314.6(PTEN):c.112C>A (p.Pro38Thr) rs587780004
NM_000314.6(PTEN):c.1171C>T (p.Pro391Ser) rs786203911
NM_000314.6(PTEN):c.1172C>A (p.Pro391His) rs1554826059
NM_000314.6(PTEN):c.1172C>T (p.Pro391Leu) rs1554826059
NM_000314.6(PTEN):c.1178A>G (p.Asp393Gly)
NM_000314.6(PTEN):c.123A>T (p.Arg41Ser) rs1554893806
NM_000314.6(PTEN):c.126_128dupTGA (p.Leu42_Glu43insAsp) rs786204896
NM_000314.6(PTEN):c.127G>A (p.Glu43Lys) rs1554893808
NM_000314.6(PTEN):c.130G>A (p.Gly44Ser) rs1554893812
NM_000314.6(PTEN):c.146A>G (p.Asn49Ser) rs992385562
NM_000314.6(PTEN):c.158T>A (p.Val53Glu) rs786203375
NM_000314.6(PTEN):c.172G>A (p.Asp58Asn) rs1554897255
NM_000314.6(PTEN):c.190C>T (p.His64Tyr) rs587781535
NM_000314.6(PTEN):c.1A>G (p.Met1Val) rs1554890324
NM_000314.6(PTEN):c.209+3A>G rs786202612
NM_000314.6(PTEN):c.209+3A>T rs786202612
NM_000314.6(PTEN):c.210-7_210-3del5 rs587780544
NM_000314.6(PTEN):c.229G>C (p.Asp77His) rs1554897867
NM_000314.6(PTEN):c.231C>A (p.Asp77Glu) rs755953294
NM_000314.6(PTEN):c.253+3A>G rs1554897887
NM_000314.6(PTEN):c.253+4_253+7delGGTA rs876659695
NM_000314.6(PTEN):c.254T>G (p.Val85Gly) rs1114167658
NM_000314.6(PTEN):c.266C>T (p.Pro89Leu) rs1554898059
NM_000314.6(PTEN):c.271G>A (p.Glu91Lys) rs1554898062
NM_000314.6(PTEN):c.283C>A (p.Pro95Thr) rs1114167630
NM_000314.6(PTEN):c.28A>G (p.Ser10Gly) rs572685299
NM_000314.6(PTEN):c.304A>C (p.Lys102Gln) rs786202944
NM_000314.6(PTEN):c.304_306dupAAA (p.Lys102_Pro103insLys) rs587782641
NM_000314.6(PTEN):c.30_32delCAG (p.Ser10del) rs1114167649
NM_000314.6(PTEN):c.314G>A (p.Cys105Tyr) rs587782343
NM_000314.6(PTEN):c.319G>T (p.Asp107Tyr) rs57374291
NM_000314.6(PTEN):c.329A>G (p.Gln110Arg)
NM_000314.6(PTEN):c.337A>C (p.Ser113Arg) rs1554898100
NM_000314.6(PTEN):c.34A>G (p.Asn12Asp) rs1554890340
NM_000314.6(PTEN):c.353A>G (p.His118Arg) rs1554898107
NM_000314.6(PTEN):c.356T>G (p.Val119Gly) rs1554898113
NM_000314.6(PTEN):c.364A>G (p.Ile122Val) rs786202740
NM_000314.6(PTEN):c.36C>G (p.Asn12Lys) rs587781957
NM_000314.6(PTEN):c.376G>T (p.Ala126Ser) rs1554898129
NM_000314.6(PTEN):c.392C>G (p.Thr131Ser) rs397514560
NM_000314.6(PTEN):c.413A>G (p.Tyr138Cys) rs1554898159
NM_000314.6(PTEN):c.421C>T (p.His141Tyr) rs1060500129
NM_000314.6(PTEN):c.422A>C (p.His141Pro) rs863224666
NM_000314.6(PTEN):c.425G>C (p.Arg142Pro) rs753630034
NM_000314.6(PTEN):c.428G>A (p.Gly143Asp) rs786202047
NM_000314.6(PTEN):c.440A>G (p.Lys147Arg) rs757087471
NM_000314.6(PTEN):c.442G>A (p.Ala148Thr) rs876660321
NM_000314.6(PTEN):c.44G>C (p.Arg15Thr) rs398123324
NM_000314.6(PTEN):c.45_46delATinsTC (p.Arg15_Tyr16delinsSerHis) rs1114167679
NM_000314.6(PTEN):c.471A>G (p.Glu157=) rs1554898216
NM_000314.6(PTEN):c.472G>A (p.Val158Ile) rs1554898217
NM_000314.6(PTEN):c.488A>G (p.Lys163Arg) rs786202753
NM_000314.6(PTEN):c.492+3A>G
NM_000314.6(PTEN):c.493-7C>T rs1554900492
NM_000314.6(PTEN):c.496G>A (p.Val166Ile) rs780943695
NM_000314.6(PTEN):c.49C>G (p.Gln17Glu) rs786204910
NM_000314.6(PTEN):c.521A>G (p.Tyr174Cys) rs864622341
NM_000314.6(PTEN):c.528_534delTTATTATinsA (p.Tyr176_Val403del) rs1114167642
NM_000314.6(PTEN):c.539A>C (p.Tyr180Ser) rs1554900585
NM_000314.6(PTEN):c.549G>T (p.Lys183Asn) rs876659227
NM_000314.6(PTEN):c.551A>T (p.Asn184Ile) rs587781895
NM_000314.6(PTEN):c.56A>G (p.Asp19Gly) rs1554890392
NM_000314.6(PTEN):c.571G>T (p.Val191Leu) rs1060500130
NM_000314.6(PTEN):c.596T>C (p.Met199Thr) rs587781538
NM_000314.6(PTEN):c.59G>T (p.Gly20Val) rs1064795967
NM_000314.6(PTEN):c.610C>T (p.Pro204Ser) rs786204868
NM_000314.6(PTEN):c.613A>G (p.Met205Val) rs776763121
NM_000314.6(PTEN):c.614T>C (p.Met205Thr) rs1185592373
NM_000314.6(PTEN):c.625G>A (p.Gly209Arg) rs765433422
NM_000314.6(PTEN):c.628A>G (p.Thr210Ala) rs1554900663
NM_000314.6(PTEN):c.634+2_634+3insC rs1554900673
NM_000314.6(PTEN):c.635-7C>A rs1554825148
NM_000314.6(PTEN):c.64G>C (p.Asp22His) rs876660420
NM_000314.6(PTEN):c.656A>C (p.Gln219Pro) rs1554825172
NM_000314.6(PTEN):c.65A>G (p.Asp22Gly) rs1554890398
NM_000314.6(PTEN):c.670A>T (p.Ile224Leu) rs1554825177
NM_000314.6(PTEN):c.698G>A (p.Arg233Gln) rs770025422
NM_000314.6(PTEN):c.700C>G (p.Arg234Gly) rs786201730
NM_000314.6(PTEN):c.715A>G (p.Met239Val) rs786201758
NM_000314.6(PTEN):c.723T>G (p.Phe241Leu) rs17849090
NM_000314.6(PTEN):c.72C>G (p.Asp24Glu) rs1320222638
NM_000314.6(PTEN):c.758T>A (p.Ile253Asn) rs1554825235
NM_000314.6(PTEN):c.75G>T (p.Leu25Phe) rs786201506
NM_000314.6(PTEN):c.771C>A (p.Phe257Leu) rs1554825245
NM_000314.6(PTEN):c.785A>C (p.Asn262Thr) rs763784377
NM_000314.6(PTEN):c.79+3A>G rs771928902
NM_000314.6(PTEN):c.79+4T>C rs1554890415
NM_000314.6(PTEN):c.802-3T>A rs587780712
NM_000314.6(PTEN):c.830C>T (p.Thr277Ile) rs398123329
NM_000314.6(PTEN):c.838A>G (p.Ile280Val) rs1474354667
NM_000314.6(PTEN):c.841C>G (p.Pro281Ala) rs750705904
NM_000314.6(PTEN):c.862G>A (p.Glu288Lys) rs1554825528
NM_000314.6(PTEN):c.881G>A (p.Ser294Asn) rs1175543698
NM_000314.6(PTEN):c.882T>G (p.Ser294Arg) rs143335584
NM_000314.6(PTEN):c.886T>C (p.Cys296Arg) rs786202207
NM_000314.6(PTEN):c.892C>G (p.Gln298Glu) rs371387815
NM_000314.6(PTEN):c.896A>G (p.Glu299Gly) rs1554825550
NM_000314.6(PTEN):c.901G>A (p.Asp301Asn) rs758644748
NM_000314.6(PTEN):c.905G>A (p.Ser302Asn) rs745638189
NM_000314.6(PTEN):c.906C>G (p.Ser302Arg) rs876660906
NM_000314.6(PTEN):c.907A>G (p.Ile303Val) rs1114167660
NM_000314.6(PTEN):c.908T>G (p.Ile303Ser) rs772018727
NM_000314.6(PTEN):c.913A>G (p.Ser305Gly) rs775461980
NM_000314.6(PTEN):c.914G>A (p.Ser305Asn) rs587780007
NM_000314.6(PTEN):c.915T>G (p.Ser305Arg) rs876658345
NM_000314.6(PTEN):c.916A>G (p.Ile306Val) rs786203858
NM_000314.6(PTEN):c.919G>C (p.Glu307Gln) rs746930141
NM_000314.6(PTEN):c.920A>G (p.Glu307Gly) rs1197734477
NM_000314.6(PTEN):c.974T>C (p.Leu325Pro) rs1114167654
NM_000314.6(PTEN):c.974T>G (p.Leu325Arg) rs1114167654
NM_000314.6(PTEN):c.97_99delATT (p.Ile33del) rs1554893765
NM_000314.6(PTEN):c.998C>T (p.Ala333Val) rs1554825616
NM_000314.7(PTEN):c.*20G>T
NM_000314.7(PTEN):c.-4A>G
NM_000314.7(PTEN):c.-7C>A
NM_000314.7(PTEN):c.-8T>C
NM_000314.7(PTEN):c.-975G>C rs587780001
NM_000314.7(PTEN):c.1027-4C>G rs587782788
NM_000314.7(PTEN):c.1028T>G (p.Val343Gly)
NM_000314.7(PTEN):c.1051G>A (p.Val351Ile)
NM_000314.7(PTEN):c.1054G>C (p.Glu352Gln)
NM_000314.7(PTEN):c.1061C>A (p.Pro354Gln) rs375709098
NM_000314.7(PTEN):c.1067A>T (p.Asn356Ile)
NM_000314.7(PTEN):c.1093G>A (p.Val365Ile) rs758542021
NM_000314.7(PTEN):c.112C>T (p.Pro38Ser) rs587780004
NM_000314.7(PTEN):c.1130A>T (p.Tyr377Phe) rs751286806
NM_000314.7(PTEN):c.170T>G (p.Leu57Trp) rs786202398
NM_000314.7(PTEN):c.184A>G (p.Lys62Glu)
NM_000314.7(PTEN):c.206A>G (p.Asn69Ser) rs786204922
NM_000314.7(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000314.7(PTEN):c.235G>T (p.Ala79Ser) rs202004587
NM_000314.7(PTEN):c.242T>A (p.Phe81Tyr)
NM_000314.7(PTEN):c.25G>A (p.Val9Ile)
NM_000314.7(PTEN):c.328C>G (p.Gln110Glu) rs1114167629
NM_000314.7(PTEN):c.347A>G (p.Asp116Gly)
NM_000314.7(PTEN):c.349A>C (p.Asn117His) rs771310592
NM_000314.7(PTEN):c.424C>T (p.Arg142Trp) rs746152219
NM_000314.7(PTEN):c.425G>A (p.Arg142Gln) rs753630034
NM_000314.7(PTEN):c.527A>G (p.Tyr176Cys) rs757498880
NM_000314.7(PTEN):c.589A>C (p.Lys197Gln)
NM_000314.7(PTEN):c.595A>G (p.Met199Val)
NM_000314.7(PTEN):c.596T>A (p.Met199Lys) rs587781538
NM_000314.7(PTEN):c.673T>C (p.Tyr225His) rs876659433
NM_000314.7(PTEN):c.683A>G (p.Asn228Ser) rs748240670
NM_000314.7(PTEN):c.701G>A (p.Arg234Gln) rs121909235
NM_000314.7(PTEN):c.79+7A>G rs374331677
NM_000314.7(PTEN):c.79+7A>T rs374331677
NM_000314.7(PTEN):c.823G>A (p.Val275Ile)
NM_000314.7(PTEN):c.847C>G (p.Pro283Ala)
NM_000314.7(PTEN):c.847C>T (p.Pro283Ser) rs876658988
NM_000314.7(PTEN):c.8C>T (p.Ala3Val)
NM_000314.7(PTEN):c.922C>T (p.Arg308Cys) rs1064794436
NM_000314.7(PTEN):c.923G>A (p.Arg308His) rs786201507
NM_000314.7(PTEN):c.935A>G (p.Asp312Gly) rs863224667
NM_000314.7(PTEN):c.949G>A (p.Val317Ile) rs876658630
NM_000314.7(PTEN):c.988A>G (p.Lys330Glu)

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