ClinVar Miner

List of variants in gene AKT1 studied for PTEN hamartoma tumor syndrome

Included ClinVar conditions (20):
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Gene type:
ClinVar version:
Total variants: 122
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HGVS dbSNP
NM_005163.2(AKT1):c.1020C>T (p.Tyr340=) rs144088506
NM_005163.2(AKT1):c.1032C>T (p.Cys344=) rs56289559
NM_005163.2(AKT1):c.1038C>T (p.Arg346=) rs1060504819
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.1134C>T (p.Ser378=) rs369527283
NM_005163.2(AKT1):c.1159G>A (p.Asp387Asn) rs1566816289
NM_005163.2(AKT1):c.1179C>T (p.Gly393=) rs11555434
NM_005163.2(AKT1):c.117G>A (p.Lys39=)
NM_005163.2(AKT1):c.1191G>T (p.Glu397Asp) rs1334042967
NM_005163.2(AKT1):c.1194C>T (p.Asp398=) rs151254374
NM_005163.2(AKT1):c.1195G>A (p.Ala399Thr)
NM_005163.2(AKT1):c.1198A>G (p.Lys400Glu)
NM_005163.2(AKT1):c.120G>A (p.Glu40=) rs370287382
NM_005163.2(AKT1):c.1227C>T (p.Ala409=) rs141303557
NM_005163.2(AKT1):c.1228G>A (p.Gly410Ser) rs146483593
NM_005163.2(AKT1):c.1233C>T (p.Ile411=) rs375901448
NM_005163.2(AKT1):c.1242G>C (p.Gln414His) rs1555383354
NM_005163.2(AKT1):c.1251C>T (p.Tyr417=) rs139297659
NM_005163.2(AKT1):c.1260+4C>T rs765999603
NM_005163.2(AKT1):c.1261C>T (p.Leu421Phe) rs1566815164
NM_005163.2(AKT1):c.126G>A (p.Pro42=) rs375645311
NM_005163.2(AKT1):c.1290G>A (p.Thr430=) rs779447501
NM_005163.2(AKT1):c.1293G>A (p.Ser431=) rs750104452
NM_005163.2(AKT1):c.1303A>C (p.Thr435Pro) rs397514645
NM_005163.2(AKT1):c.1320G>T (p.Glu440Asp) rs1159942120
NM_005163.2(AKT1):c.1329G>A (p.Thr443=) rs376893212
NM_005163.2(AKT1):c.1341C>A (p.Ile447=) rs1060504820
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.1380T>C (p.Cys460=) rs139394285
NM_005163.2(AKT1):c.1389C>T (p.Ser463=) rs144112075
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.1431C>T (p.Ser477=) rs200213561
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.176-4G>A rs776399604
NM_005163.2(AKT1):c.176-5C>A
NM_005163.2(AKT1):c.176-5C>T
NM_005163.2(AKT1):c.176-8G>A rs1060504818
NM_005163.2(AKT1):c.195G>A (p.Thr65=) rs768384015
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.267T>C (p.His89=) rs142646145
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.315T>C (p.Thr105=) rs767715614
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.432C>T (p.Arg144=) rs17846825
NM_005163.2(AKT1):c.436-3T>C
NM_005163.2(AKT1):c.436-4A>G rs1060504821
NM_005163.2(AKT1):c.438C>T (p.Thr146=) rs145780379
NM_005163.2(AKT1):c.440T>C (p.Met147Thr) rs758456890
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.47-9C>T rs776342530
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.525C>T (p.Tyr175=) rs774828129
NM_005163.2(AKT1):c.528C>T (p.Tyr176=) rs1422460834
NM_005163.2(AKT1):c.545A>G (p.Lys182Arg) rs1555383695
NM_005163.2(AKT1):c.558C>T (p.Ile186=) rs34670300
NM_005163.2(AKT1):c.567+8C>T rs752874396
NM_005163.2(AKT1):c.570C>T (p.Asp190=) rs780207480
NM_005163.2(AKT1):c.604C>T (p.Leu202=) rs2230506
NM_005163.2(AKT1):c.660C>T (p.His220=) rs141168205
NM_005163.2(AKT1):c.687C>T (p.Tyr229=) rs769696222
NM_005163.2(AKT1):c.692A>G (p.Asn231Ser)
NM_005163.2(AKT1):c.693C>T (p.Asn231=) rs767346459
NM_005163.2(AKT1):c.703-4G>A rs776642823
NM_005163.2(AKT1):c.703-5C>T rs377077146
NM_005163.2(AKT1):c.705G>A (p.Leu235=) rs769090254
NM_005163.2(AKT1):c.705G>T (p.Leu235=) rs769090254
NM_005163.2(AKT1):c.721C>T (p.Arg241Trp) rs768606668
NM_005163.2(AKT1):c.738C>T (p.Ser246=) rs368667384
NM_005163.2(AKT1):c.73C>T (p.Arg25Cys) rs397514644
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.783G>A (p.Leu261=) rs143933508
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.807C>T (p.Asn269=) rs201044857
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+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.828+7del rs1555383494
NM_005163.2(AKT1):c.829-4C>T
NM_005163.2(AKT1):c.855C>T (p.Asp285=) rs149484260
NM_005163.2(AKT1):c.876C>T (p.Asp292=) rs761942512
NM_005163.2(AKT1):c.879C>T (p.Phe293=) rs139200289
NM_005163.2(AKT1):c.906C>T (p.Asp302=) rs746001369
NM_005163.2(AKT1):c.907G>A (p.Gly303Ser)
NM_005163.2(AKT1):c.917T>C (p.Met306Thr) rs1555383471
NM_005163.2(AKT1):c.951C>A (p.Ala317=) rs17846831
NM_005163.2(AKT1):c.958-6G>A rs199770031
NM_005163.2(AKT1):c.958-7C>T rs369048965
NM_005163.2(AKT1):c.9C>T (p.Asp3=) rs56217512

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