ClinVar Miner

List of variants in gene AKT1 reported as uncertain significance for PTEN hamartoma tumor syndrome

Included ClinVar conditions (20):
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Gene type:
ClinVar version:
Total variants: 64
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HGVS dbSNP
NM_005163.2(AKT1):c.106A>G (p.Ile36Val) rs781339141
NM_005163.2(AKT1):c.107T>C (p.Ile36Thr)
NM_005163.2(AKT1):c.1099C>A (p.Arg367Ser) rs762705090
NM_005163.2(AKT1):c.1099C>T (p.Arg367Cys)
NM_005163.2(AKT1):c.10G>A (p.Val4Met) rs754031503
NM_005163.2(AKT1):c.1109G>A (p.Arg370His)
NM_005163.2(AKT1):c.1112C>A (p.Thr371Lys)
NM_005163.2(AKT1):c.1159G>A (p.Asp387Asn) rs1566816289
NM_005163.2(AKT1):c.117G>A (p.Lys39=)
NM_005163.2(AKT1):c.1191G>T (p.Glu397Asp) rs1334042967
NM_005163.2(AKT1):c.1195G>A (p.Ala399Thr)
NM_005163.2(AKT1):c.1198A>G (p.Lys400Glu)
NM_005163.2(AKT1):c.1228G>A (p.Gly410Ser) rs146483593
NM_005163.2(AKT1):c.1242G>C (p.Gln414His) rs1555383354
NM_005163.2(AKT1):c.1260+4C>T rs765999603
NM_005163.2(AKT1):c.1261C>T (p.Leu421Phe) rs1566815164
NM_005163.2(AKT1):c.1320G>T (p.Glu440Asp) rs1159942120
NM_005163.2(AKT1):c.1361A>G (p.Gln454Arg) rs759702315
NM_005163.2(AKT1):c.1373T>C (p.Met458Thr) rs587778018
NM_005163.2(AKT1):c.138C>A (p.Asp46Glu) rs146875699
NM_005163.2(AKT1):c.1390G>A (p.Glu464Lys)
NM_005163.2(AKT1):c.1394G>A (p.Arg465His) rs113547523
NM_005163.2(AKT1):c.142C>T (p.Arg48Cys) rs374093099
NM_005163.2(AKT1):c.1432G>A (p.Gly478Ser) rs1205616929
NM_005163.2(AKT1):c.143G>A (p.Arg48His)
NM_005163.2(AKT1):c.174G>A (p.Ala58=) rs560243859
NM_005163.2(AKT1):c.175+5G>A
NM_005163.2(AKT1):c.176-3C>G
NM_005163.2(AKT1):c.176-5C>A
NM_005163.2(AKT1):c.176-5C>T
NM_005163.2(AKT1):c.206G>A (p.Arg69Gln) rs183989506
NM_005163.2(AKT1):c.227G>A (p.Arg76His) rs771065764
NM_005163.2(AKT1):c.287+4C>T rs745831501
NM_005163.2(AKT1):c.287+5G>A rs373853807
NM_005163.2(AKT1):c.288-3C>T rs61761189
NM_005163.2(AKT1):c.356A>G (p.Asp119Gly) rs1566818099
NM_005163.2(AKT1):c.362G>A (p.Arg121Gln)
NM_005163.2(AKT1):c.406G>A (p.Val136Met) rs778376616
NM_005163.2(AKT1):c.430C>T (p.Arg144Cys)
NM_005163.2(AKT1):c.431G>A (p.Arg144His) rs1060503071
NM_005163.2(AKT1):c.436-3T>C
NM_005163.2(AKT1):c.440T>C (p.Met147Thr) rs758456890
NM_005163.2(AKT1):c.49G>A (p.Glu17Lys) rs121434592
NM_005163.2(AKT1):c.4A>G (p.Ser2Gly) rs1566826869
NM_005163.2(AKT1):c.512C>T (p.Ala171Val)
NM_005163.2(AKT1):c.520C>T (p.Arg174Cys) rs983007851
NM_005163.2(AKT1):c.545A>G (p.Lys182Arg) rs1555383695
NM_005163.2(AKT1):c.570C>T (p.Asp190=) rs780207480
NM_005163.2(AKT1):c.692A>G (p.Asn231Ser)
NM_005163.2(AKT1):c.721C>T (p.Arg241Trp) rs768606668
NM_005163.2(AKT1):c.745C>T (p.Arg249Trp)
NM_005163.2(AKT1):c.751C>T (p.Arg251Cys)
NM_005163.2(AKT1):c.763G>A (p.Ala255Thr) rs375395037
NM_005163.2(AKT1):c.770T>C (p.Ile257Thr) rs1555383511
NM_005163.2(AKT1):c.797C>T (p.Ser266Leu)
NM_005163.2(AKT1):c.798G>A (p.Ser266=) rs367635775
NM_005163.2(AKT1):c.7G>A (p.Asp3Asn) rs140532443
NM_005163.2(AKT1):c.828+10C>T rs370490407
NM_005163.2(AKT1):c.828+4C>T rs3730330
NM_005163.2(AKT1):c.828+5G>A rs1199214347
NM_005163.2(AKT1):c.828+5G>C
NM_005163.2(AKT1):c.829-4C>T
NM_005163.2(AKT1):c.907G>A (p.Gly303Ser)
NM_005163.2(AKT1):c.917T>C (p.Met306Thr) rs1555383471

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