AKT1 — 912 ClinVar variants

All ClinVar germline AKT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 343 flagged for review →

4 Pathogenic · 14 Conflicting · 52 Benign · 16 Benign/Likely benign · 422 Likely benign · 404 Uncertain significance

Full AKT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 343

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 4

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

AKT1 p.Arg465His Conflicting Single submitter
colorectal cancer
AKT1 p.Asp46Glu Conflicting Single submitter
Hereditary cancer
AKT1 p.Gln79Arg Conflicting Single submitter
Cowden syndrome 6
AKT1 p.Val412Met Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 250

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 250

AKT1 p.Ala139Pro Uncertain significance Multiple submitters
Cowden syndrome 6
AKT1 p.Ala171Thr Uncertain significance Multiple submitters
Cowden syndrome 6
AKT1 p.Ala212Gly Uncertain significance Multiple submitters
Cowden syndrome 6
AKT1 p.Arg121Gln Uncertain significance Multiple submitters
Cowden syndrome 6
AKT1 p.Arg121Leu Uncertain significance Multiple submitters
Cowden syndrome 6
AKT1 p.Arg144His Uncertain significance Multiple submitters
Cowden syndrome 6
AKT1 p.Arg222Cys Uncertain significance Multiple submitters
Cowden syndrome 6
AKT1 p.Arg23Gln Uncertain significance Multiple submitters
Cowden syndrome 6
AKT1 p.Arg346Cys Uncertain significance Multiple submitters
Inborn genetic diseases
AKT1 p.Arg346His Uncertain significance Multiple submitters
Cowden syndrome 6
AKT1 p.Arg370Ser Uncertain significance Multiple submitters
Cowden syndrome 6
AKT1 p.Arg41Gln Uncertain significance Multiple submitters
Cowden syndrome 6
AKT1 p.Arg48Cys Uncertain significance Multiple submitters
Cowden syndrome 6
AKT1 p.Asn128Ile Uncertain significance Multiple submitters
Inborn genetic diseases
AKT1 p.Asn324Ser Uncertain significance Multiple submitters
Inborn genetic diseases
AKT1 p.Asp119Gly Uncertain significance Multiple submitters
Inborn genetic diseases
AKT1 p.Gln454Arg Uncertain significance Multiple submitters
Cowden syndrome 6
AKT1 p.Glu117Asp Uncertain significance Multiple submitters
Inborn genetic diseases
AKT1 p.Glu418Gln Uncertain significance Multiple submitters
Inborn genetic diseases
AKT1 p.Glu464Lys Uncertain significance Multiple submitters
Cowden syndrome 6
AKT1 p.Gly109Ser Uncertain significance Multiple submitters
Cowden syndrome 6
AKT1 p.Gly394Arg Uncertain significance Multiple submitters
Inborn genetic diseases
AKT1 p.His415Gln Uncertain significance Multiple submitters
Cowden syndrome 6
AKT1 p.Ile257Thr Uncertain significance Multiple submitters
Cowden syndrome 6
AKT1 p.Lys377Arg Uncertain significance Multiple submitters
Inborn genetic diseases
AKT1 p.Met147Thr Uncertain significance Multiple submitters
Inborn genetic diseases
AKT1 p.Met363Thr Uncertain significance Multiple submitters
Inborn genetic diseases
AKT1 p.Met458Lys Uncertain significance Multiple submitters
Cowden syndrome 6
AKT1 p.Met458Val Uncertain significance Multiple submitters
Cowden syndrome 6
AKT1 p.Phe120Leu Uncertain significance Multiple submitters
Cowden syndrome 6
AKT1 p.Phe245Cys Uncertain significance Multiple submitters
Inborn genetic diseases
AKT1 p.Pro125Leu Uncertain significance Multiple submitters
Cowden syndrome 6
AKT1 p.Ser266Leu Uncertain significance Multiple submitters
Cowden syndrome 6
AKT1 p.Ser431Leu Uncertain significance Multiple submitters
Inborn genetic diseases
AKT1 p.Ser463Gly Uncertain significance Multiple submitters
Cowden syndrome 6
AKT1 p.Thr430Met Uncertain significance Multiple submitters
Cowden syndrome 6
AKT1 p.Val416Met Uncertain significance Multiple submitters
Inborn genetic diseases
AKT1 p.Ala139Val Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Ala171Val Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Ala177Pro Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Ala193Gly Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Ala212Ser Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Ala255Thr Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Ala317Val Uncertain significance Single submitter
AKT1 p.Ala329Val Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Ala399Thr Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Ala444Thr Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Ala480Asp Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Ala50Thr Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Ala58Ser Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Arg121Pro Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Arg144Ser Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Arg174His Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Arg241Leu Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Arg241Trp Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Arg249Trp Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Arg273Gln Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Arg273Trp Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Arg367His Uncertain significance Single submitter
AKT1 p.Arg406His Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Arg406Leu Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Arg406Ser Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Arg465Cys Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Arg466Gly Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Arg466Lys Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Arg48His Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Arg67Trp Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Arg76Cys Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Arg76His Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Arg86His Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Arg96Trp Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Asn128Asp Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Asn128Lys Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Asn199Thr Uncertain significance Single submitter
AKT1 p.Asn231Lys Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Asn269Lys Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Asn279Ile Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Asn31Ser Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Asn54Ile Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Asp221Gly Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Asp248Asn Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Asp262Gly Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Asp262Tyr Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Asp283Gly Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Asp387Asn Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Asp3Asn Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Asp439His Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Asp453Glu Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Asp456Asn Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Cys310Gly Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Cys460Arg Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Cys460Phe Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Cys460Tyr Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Cys60Tyr Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Cys77Phe Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Cys77Trp Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Gln113Arg Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Gln113Glu Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Gln203Arg Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Gln404Arg Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Gln43Arg Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Gln445Glu Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Gln454Glu Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Gln47His Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Gln79His Uncertain significance Single submitter
colorectal cancer
AKT1 p.Glu114Asp Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Glu115Lys Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Glu117Lys Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Glu132Lys Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Glu133Lys Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Glu135Gly Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Glu149Gln Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Glu191Lys Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Glu198Gly Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Glu242Gly Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Glu247Asp Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Glu247Lys Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Glu267Lys Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Glu397Ala Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Glu397Asp Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Glu397Gln Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Glu440Asp Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Glu441Gly Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Glu459Gly Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Glu464Asp Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Glu85Ala Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Glu85Lys Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Glu95Lys Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Gly109Arg Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Gly10Cys Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Gly233Ala Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Gly286Ala Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Gly327Arg Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Gly373Asp Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Gly373Ser Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Gly382Ala Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Gly393Ser Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Gly395Ser Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Gly410Ala Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Gly410Ser Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Gly478Ser Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.His13Tyr Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.His207Gln Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.His207Leu Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.His220Leu Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.His238Arg Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.His265Arg Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.His287Arg Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.His287Tyr Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.His354Arg Uncertain significance Single submitter
Inborn genetic diseases

Predictors split 89

The independent predictors disagree with each other — read with care.

AKT1 p.Arg174Cys Uncertain significance Multiple submitters
colorectal cancer
AKT1 p.Arg251Cys Uncertain significance Multiple submitters
Cowden syndrome 6
AKT1 p.Asn351Ser Uncertain significance Multiple submitters
Inborn genetic diseases
AKT1 p.Glu397Lys Uncertain significance Multiple submitters
Inborn genetic diseases
AKT1 p.Glu459Lys Uncertain significance Multiple submitters
Inborn genetic diseases
AKT1 p.Gly327Ser Uncertain significance Multiple submitters
Cowden syndrome 6
AKT1 p.His415Tyr Uncertain significance Multiple submitters
Cowden syndrome 6
AKT1 p.Ile19Val Uncertain significance Multiple submitters
Cowden syndrome 6
AKT1 p.Leu110Phe Uncertain significance Multiple submitters
Inborn genetic diseases
AKT1 p.Lys400Glu Uncertain significance Multiple submitters
Cowden syndrome 6
AKT1 p.Pro423Ser Uncertain significance Multiple submitters
Inborn genetic diseases
AKT1 p.Pro93His Uncertain significance Multiple submitters
Inborn genetic diseases
AKT1 p.Thr371Met Uncertain significance Multiple submitters
Inborn genetic diseases
AKT1 p.Ala212Pro Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Ala329Thr Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Ala58Gly Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Arg121Trp Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Arg144Cys Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Arg206Gly Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Arg222His Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Arg241Gln Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Arg243Cys Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Arg367Ser Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Arg370Cys Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Arg370His Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Arg406Cys Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Arg67Gln Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Arg69Gln Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Asn231Ser Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Asn53Lys Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Asn54Asp Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Asp108Val Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Asp221Asn Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Asp323Gly Conflicting Single submitter
Proteus syndrome
AKT1 p.Asp325Glu Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Asp453His Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Gln352Arg Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Gln352Lys Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Gln414His Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Glu169Asp Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Glu228Asp Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Glu242Lys Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Glu322Lys Uncertain significance Single submitter
AKT1 p.Glu365Val Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Glu375Gln Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Glu375Lys Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Glu40Gln Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Glu40Gly Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Glu40Val Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Glu418Lys Uncertain significance Single submitter
AKT1 p.Glu440Lys Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Glu91Gly Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Glu94Ala Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Glu97Gly Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Glu98Gly Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Glu98Lys Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Gly303Ser Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Gly327Asp Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.His220Asp Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Ile186Met Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Ile186Phe Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Ile36Phe Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Ile447Met Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Ile447Thr Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Ile6Leu Uncertain significance Single submitter
AKT1 p.Ile75Val Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Leu421Phe Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Lys377Thr Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Lys400Asn Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Lys420Glu Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Lys426Thr Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Met147Ile Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Met147Val Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Met306Thr Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Met306Val Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Met339Thr Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Met343Ile Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Met363Leu Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Met403Val Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Pro141Leu Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Pro42Leu Uncertain significance Single submitter
Cowden syndrome 6
AKT1 p.Ser122Trp Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Thr433Asn Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Thr87Ser Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Tyr417Asp Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Val244Ala Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Val258Ala Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Val270Met Uncertain significance Single submitter
Inborn genetic diseases
AKT1 p.Val337Met Uncertain significance Single submitter
Cowden syndrome 6

All AKT1 variants

Pathogenic 4

p.Glu17Lys Multiple submitters Cowden syndrome 6
p.Glu17Arg Single submitter Proteus syndrome
p.Arg25Cys No assertion criteria Cowden syndrome 6
p.Thr435Pro No assertion criteria Cowden syndrome 6

Conflicting classifications of pathogenicity 14

c.1364-3C>T Single submitter Cowden syndrome 6
c.176-5C>T Single submitter Cowden syndrome 6
c.287+4C>T Single submitter Cowden syndrome 6
c.288-4G>T Single submitter Cowden syndrome 6
c.957+3G>A Single submitter Cowden syndrome 6
c.957+6C>T Single submitter Cowden syndrome 6
p.Ala58= Single submitter Inborn genetic diseases
p.Arg391= Single submitter Cowden syndrome 6
p.Arg465His Single submitter colorectal cancer ⚠
p.Asp323Gly Single submitter Proteus syndrome ⚠
p.Asp46Glu Single submitter Hereditary cancer ⚠
p.Gln79Arg Single submitter Cowden syndrome 6 ⚠
p.Ser475= Single submitter Inborn genetic diseases
p.Val412Met Single submitter Inborn genetic diseases ⚠

Benign 52

c.1172+23A>G Multiple submitters
c.1172+69G>C Multiple submitters
c.1173-31C>G Multiple submitters
c.1260+32G>A Multiple submitters
c.1260+66C>G Multiple submitters
c.1260+98G>A Multiple submitters
c.1261-217T>C Multiple submitters
c.175+100A>T Multiple submitters Cowden syndrome 6
c.175+18C>G Multiple submitters Cowden syndrome 6
c.175+18C>T Multiple submitters Cowden syndrome 6
c.176-113C>T Multiple submitters
c.176-328C>A Multiple submitters
c.287+165G>A Multiple submitters
c.287+170G>A Multiple submitters
c.287+170G>T Multiple submitters
c.287+30A>G Multiple submitters
c.288-238C>T Multiple submitters
c.288-273T>G Multiple submitters
c.288-92A>G Multiple submitters
c.436-32C>T Multiple submitters
c.436-63C>T Multiple submitters
c.46+42T>C Multiple submitters
c.46+43G>A Multiple submitters
c.47-128C>T Multiple submitters
c.47-133C>T Multiple submitters
c.47-139A>T Multiple submitters
c.47-76C>T Multiple submitters
c.567+35G>A Multiple submitters
c.634-133G>A Multiple submitters
c.634-213A>G Multiple submitters
c.702+138C>T Multiple submitters
c.702+33C>T Multiple submitters
c.958-7C>T Multiple submitters Cowden syndrome 6
p.Glu242= Multiple submitters Cowden syndrome 6
p.Ile186= Multiple submitters Cowden syndrome 6
p.Leu202= Multiple submitters Cowden syndrome 6
c.1173-165G>A Single submitter
c.1260+106_1260+110del Single submitter
c.1260+12C>T Single submitter Cowden syndrome 6
c.1260+225C>T Single submitter
c.1260+66C>A Single submitter
c.1363+52_1363+55del Single submitter
c.1364-11del Single submitter Cowden syndrome 6
c.176-23_176-17del Single submitter Cowden syndrome 6
c.288-281_288-265del Single submitter
c.288-289dup Single submitter
c.288-305_288-269del Single submitter
c.288-309_288-270del Single submitter
c.567+12G>A Single submitter Cowden syndrome 6
c.957+18G>A Single submitter Cowden syndrome 6
c.958-6G>A Single submitter Cowden syndrome 6
c.-257-87C>T Single submitter squamous cell carcinoma

Benign/Likely benign 16

c.1363+12C>T Multiple submitters Cowden syndrome 6
c.288-14C>T Multiple submitters Cowden syndrome 6
c.46+10C>T Multiple submitters Cowden syndrome 6
c.47-12G>A Multiple submitters Cowden syndrome 6
c.567+14G>A Multiple submitters Cowden syndrome 6
c.634-13C>T Multiple submitters schizophrenia
p.Arg144= Multiple submitters Inborn genetic diseases
p.Asn269= Multiple submitters Inborn genetic diseases
p.Asp190= Multiple submitters Inborn genetic diseases
p.Cys344= Multiple submitters Inborn genetic diseases
p.Gly393= Multiple submitters Inborn genetic diseases
p.His220= Multiple submitters Inborn genetic diseases
p.Ser463= Multiple submitters Cowden syndrome 6
p.Tyr340= Multiple submitters Inborn genetic diseases
p.Tyr417= Multiple submitters Inborn genetic diseases
p.Val136Met Multiple submitters Cowden syndrome 6

Likely benign 422

Showing the top 300 by review status; the full set is in the sitemap.

c.1172+71G>A Multiple submitters
c.1173-89C>T Multiple submitters
c.1260+190C>T Multiple submitters
c.1260+93C>T Multiple submitters
c.1261-196C>T Multiple submitters
c.1364-9C>T Multiple submitters Cowden syndrome 6
c.176-261G>A Multiple submitters
c.176-4G>A Multiple submitters Cowden syndrome 6
c.287+12G>A Multiple submitters Cowden syndrome 6
c.288-121G>A Multiple submitters
c.46+19G>A Multiple submitters Cowden syndrome 6
c.47-9C>T Multiple submitters Cowden syndrome 6
c.567+9G>A Multiple submitters Cowden syndrome 6
c.703-125G>A Multiple submitters
c.828+11G>A Multiple submitters Cowden syndrome 6
c.828+13G>A Multiple submitters Cowden syndrome 6
p.Ala250= Multiple submitters Inborn genetic diseases
p.Ala255= Multiple submitters Inborn genetic diseases
p.Ala409= Multiple submitters Inborn genetic diseases
p.Arg249= Multiple submitters Inborn genetic diseases
p.Arg346= Multiple submitters Inborn genetic diseases
p.Arg465= Multiple submitters Inborn genetic diseases
p.Asn148= Multiple submitters Inborn genetic diseases
p.Asn204= Multiple submitters Inborn genetic diseases
p.Asn351= Multiple submitters Cowden syndrome 6
p.Asp108= Multiple submitters Cowden syndrome 6
p.Asp248= Multiple submitters Inborn genetic diseases
p.Asp274= Multiple submitters Cowden syndrome 6
p.Asp285= Multiple submitters Inborn genetic diseases
p.Asp292= Multiple submitters Inborn genetic diseases
p.Asp3= Multiple submitters Inborn genetic diseases
p.Asp302= Multiple submitters Inborn genetic diseases
p.Asp387= Multiple submitters Inborn genetic diseases
p.Asp398= Multiple submitters Inborn genetic diseases
p.Asp44= Multiple submitters Inborn genetic diseases
p.Asp462= Multiple submitters Cowden syndrome 6
p.Cys310= Multiple submitters Cowden syndrome 6
p.Cys460= Multiple submitters Inborn genetic diseases
p.Gln428= Multiple submitters Cowden syndrome 6
p.Gln43= Multiple submitters Inborn genetic diseases
p.Gln47= Multiple submitters Inborn genetic diseases
p.Gln79= Multiple submitters Inborn genetic diseases
p.Glu116= Multiple submitters Inborn genetic diseases
p.Glu117= Multiple submitters Cowden syndrome 6
p.Glu133= Multiple submitters Inborn genetic diseases
p.Glu151= Multiple submitters Inborn genetic diseases
p.Glu228= Multiple submitters Cowden syndrome 6
p.Glu364= Multiple submitters Cowden syndrome 6
p.Glu40= Multiple submitters Inborn genetic diseases
p.Glu9= Multiple submitters Inborn genetic diseases
p.Glu95= Multiple submitters Cowden syndrome 6
p.Glu98= Multiple submitters Cowden syndrome 6
p.Gly232= Multiple submitters Inborn genetic diseases
p.Gly303= Multiple submitters Cowden syndrome 6
p.Gly336= Multiple submitters Cowden syndrome 6
p.Gly373= Multiple submitters Inborn genetic diseases
p.Gly382= Multiple submitters Inborn genetic diseases
p.His415= Multiple submitters Inborn genetic diseases
p.His89= Multiple submitters Inborn genetic diseases
p.Ile361= Multiple submitters Inborn genetic diseases
p.Ile402= Multiple submitters Cowden syndrome 6
p.Ile411= Multiple submitters Inborn genetic diseases
p.Ile74= Multiple submitters Inborn genetic diseases
p.Ile84= Multiple submitters Cowden syndrome 6
p.Leu138= Multiple submitters Cowden syndrome 6
p.Leu156= Multiple submitters Inborn genetic diseases
p.Leu196= Multiple submitters Cowden syndrome 6
p.Leu223= Multiple submitters Inborn genetic diseases
p.Leu261= Multiple submitters Inborn genetic diseases
p.Leu282= Multiple submitters Cowden syndrome 6
p.Leu29= Multiple submitters Inborn genetic diseases
p.Leu360= Multiple submitters Inborn genetic diseases
p.Leu362= Multiple submitters Cowden syndrome 6
p.Leu383= Multiple submitters Inborn genetic diseases
p.Leu392= Multiple submitters Cowden syndrome 6
p.Leu62= Multiple submitters Inborn genetic diseases
p.Lys111= Multiple submitters Inborn genetic diseases
p.Lys39= Multiple submitters Cowden syndrome 6
p.Phe150= Multiple submitters Inborn genetic diseases
p.Phe161= Multiple submitters Cowden syndrome 6
p.Phe237= Multiple submitters Inborn genetic diseases
p.Phe252= Multiple submitters Cowden syndrome 6
p.Phe27= Multiple submitters Inborn genetic diseases
p.Phe293= Multiple submitters Cowden syndrome 6
p.Phe309= Multiple submitters Inborn genetic diseases
p.Phe368= Multiple submitters Inborn genetic diseases
p.Phe472= Multiple submitters Inborn genetic diseases
p.Phe55= Multiple submitters Inborn genetic diseases
p.Pro313= Multiple submitters Inborn genetic diseases
p.Pro318= Multiple submitters Cowden syndrome 6
p.Pro369= Multiple submitters Cowden syndrome 6
p.Pro374= Multiple submitters Inborn genetic diseases
p.Pro42= Multiple submitters Cowden syndrome 6
p.Pro427= Multiple submitters Inborn genetic diseases
p.Pro51= Multiple submitters Inborn genetic diseases
p.Ser129= Multiple submitters Inborn genetic diseases
p.Ser2= Multiple submitters Cowden syndrome 6
p.Ser266= Multiple submitters Cowden syndrome 6
p.Ser431= Multiple submitters Inborn genetic diseases
p.Ser473= Multiple submitters Cowden syndrome 6
p.Ser477= Multiple submitters Cowden syndrome 6
p.Thr101= Multiple submitters Cowden syndrome 6
p.Thr105= Multiple submitters Inborn genetic diseases
p.Thr146= Multiple submitters Inborn genetic diseases
p.Thr371= Multiple submitters Inborn genetic diseases
p.Thr430= Multiple submitters Cowden syndrome 6
p.Thr443= Multiple submitters Inborn genetic diseases
p.Thr479= Multiple submitters Inborn genetic diseases
p.Thr65= Multiple submitters Inborn genetic diseases
p.Tyr175= Multiple submitters Cowden syndrome 6
p.Tyr176= Multiple submitters Cowden syndrome 6
p.Tyr229= Multiple submitters Inborn genetic diseases
p.Tyr326= Multiple submitters Inborn genetic diseases
p.Tyr437= Multiple submitters Cowden syndrome 6
p.Val106= Multiple submitters Cowden syndrome 6
p.Val187= Multiple submitters Inborn genetic diseases
p.Val192= Multiple submitters Inborn genetic diseases
p.Val270= Multiple submitters Cowden syndrome 6
p.Val337= Multiple submitters Inborn genetic diseases
p.Val416= Multiple submitters Inborn genetic diseases
p.Val57= Multiple submitters Cowden syndrome 6
c.1172+10G>A Single submitter Cowden syndrome 6
c.1172+16C>G Single submitter Cowden syndrome 6
c.1172+207C>T Single submitter
c.1172+4A>C Single submitter Cowden syndrome 6
c.1172+7G>A Single submitter Cowden syndrome 6
c.1172+9C>A Single submitter Cowden syndrome 6
c.1172+9C>T Single submitter Cowden syndrome 6
c.1173-114C>T Single submitter
c.1173-120C>T Single submitter
c.1173-18C>T Single submitter Cowden syndrome 6
c.1173-6C>G Single submitter Cowden syndrome 6
c.1173-8G>A Single submitter Cowden syndrome 6
c.1173-8G>C Single submitter Cowden syndrome 6
c.1260+15C>T Single submitter Cowden syndrome 6
c.1260+16G>A Single submitter Cowden syndrome 6
c.1260+18A>G Single submitter Cowden syndrome 6
c.1260+19T>C Single submitter Cowden syndrome 6
c.1260+7C>G Single submitter Cowden syndrome 6
c.1260+7C>T Single submitter Cowden syndrome 6
c.1261-10A>C Single submitter Cowden syndrome 6
c.1261-18G>A Single submitter Cowden syndrome 6
c.1261-19C>T Single submitter Cowden syndrome 6
c.1261-20C>T Single submitter Cowden syndrome 6
c.1261-8C>T Single submitter Cowden syndrome 6
c.1363+9C>T Single submitter Cowden syndrome 6
c.1364-10A>C Single submitter Cowden syndrome 6
c.1364-10A>G Single submitter Cowden syndrome 6
c.1364-11T>C Single submitter Cowden syndrome 6
c.1364-20dup Single submitter Cowden syndrome 6
c.175+12C>T Single submitter Cowden syndrome 6
c.175+16G>C Single submitter Cowden syndrome 6
c.176-16C>T Single submitter Cowden syndrome 6
c.176-17G>A Single submitter
c.176-19A>G Single submitter Cowden syndrome 6
c.176-245C>A Single submitter
c.176-5C>G Single submitter Cowden syndrome 6
c.176-7C>T Single submitter Cowden syndrome 6
c.176-8G>A Single submitter Cowden syndrome 6
c.287+14G>A Single submitter Cowden syndrome 6
c.287+16C>T Single submitter Cowden syndrome 6
c.287+17G>A Single submitter Cowden syndrome 6
c.288-13T>A Single submitter Cowden syndrome 6
c.288-20C>T Single submitter Cowden syndrome 6
c.288-321C>T Single submitter
c.288-7_288-5del Single submitter Cowden syndrome 6
c.435+10G>A Single submitter Cowden syndrome 6
c.435+10G>T Single submitter Cowden syndrome 6
c.435+17C>T Single submitter Cowden syndrome 6
c.435+18T>C Single submitter Cowden syndrome 6
c.436-18C>A Single submitter Cowden syndrome 6
c.436-4A>G Single submitter Cowden syndrome 6
c.46+10C>G Single submitter Cowden syndrome 6
c.46+11G>A Single submitter Cowden syndrome 6
c.46+16C>T Single submitter Cowden syndrome 6
c.46+20G>A Single submitter Cowden syndrome 6
c.46+20G>C Single submitter Cowden syndrome 6
c.46+20G>T Single submitter Cowden syndrome 6
c.46+9C>G Single submitter Cowden syndrome 6
c.46+9C>T Single submitter Cowden syndrome 6
c.47-13C>T Single submitter Cowden syndrome 6
c.47-16del Single submitter Cowden syndrome 6
c.47-319T>C Single submitter
c.47-4G>A Single submitter Cowden syndrome 6
c.47-4G>C Single submitter Cowden syndrome 6
c.47-4G>T Single submitter Cowden syndrome 6
c.47-5T>C Single submitter Cowden syndrome 6
c.47-8G>A Single submitter Cowden syndrome 6
c.47-8G>T Single submitter Cowden syndrome 6
c.567+13C>T Single submitter Cowden syndrome 6
c.567+19G>T Single submitter Cowden syndrome 6
c.567+20G>T Single submitter Cowden syndrome 6
c.567+8C>T Single submitter Cowden syndrome 6
c.568-14_568-11dup Single submitter Cowden syndrome 6
c.568-16C>G Single submitter Cowden syndrome 6
c.568-16C>T Single submitter Cowden syndrome 6
c.568-20C>T Single submitter Cowden syndrome 6
c.633+12C>A Single submitter Cowden syndrome 6
c.633+12C>T Single submitter Cowden syndrome 6
c.633+15A>G Single submitter Cowden syndrome 6
c.633+16G>A Single submitter Cowden syndrome 6
c.633+16G>C Single submitter Cowden syndrome 6
c.633+19G>C Single submitter Cowden syndrome 6
c.633+7G>T Single submitter Cowden syndrome 6
c.633+8_633+9dup Single submitter Cowden syndrome 6
c.633+9dup Single submitter Cowden syndrome 6
c.633+9G>A Single submitter Cowden syndrome 6
c.634-12C>T Single submitter Cowden syndrome 6
c.634-14C>T Single submitter Cowden syndrome 6
c.634-15T>C Single submitter Cowden syndrome 6
c.634-19C>T Single submitter Cowden syndrome 6
c.702+102G>A Single submitter
c.702+17C>T Single submitter Cowden syndrome 6
c.702+18G>A Single submitter Cowden syndrome 6
c.702+7G>A Single submitter Cowden syndrome 6
c.703-11G>A Single submitter Cowden syndrome 6
c.703-12C>T Single submitter Cowden syndrome 6
c.703-4G>A Single submitter Cowden syndrome 6
c.703-5C>T Single submitter Cowden syndrome 6
c.703-7C>T Single submitter
c.828+10C>T Single submitter Cowden syndrome 6
c.828+16_828+18delinsTTT Single submitter Cowden syndrome 6
c.828+17G>T Single submitter Cowden syndrome 6
c.828+7del Single submitter Cowden syndrome 6
c.828+9G>A Single submitter Cowden syndrome 6
c.829-4C>G Single submitter Cowden syndrome 6
c.829-4C>T Single submitter Cowden syndrome 6
c.829-9T>C Single submitter Cowden syndrome 6
c.957+13C>T Single submitter Cowden syndrome 6
c.957+14C>T Single submitter Cowden syndrome 6
c.957+15T>C Single submitter Cowden syndrome 6
c.957+17C>T Single submitter Cowden syndrome 6
c.957+7G>A Single submitter Cowden syndrome 6
c.958-7C>G Single submitter Cowden syndrome 6
c.958-8C>T Single submitter Cowden syndrome 6
c.-16G>A Single submitter
c.-45C>G Single submitter
c.*6C>T Single submitter
p.Ala139= Single submitter Inborn genetic diseases
p.Ala177= Single submitter Inborn genetic diseases
p.Ala188= Single submitter Inborn genetic diseases
p.Ala193= Single submitter Inborn genetic diseases
p.Ala212= Single submitter Inborn genetic diseases
p.Ala260= Single submitter Inborn genetic diseases
p.Ala317= Single submitter Inborn genetic diseases
p.Ala376= Single submitter Inborn genetic diseases
p.Ala444= Single submitter Inborn genetic diseases
p.Ala476= Single submitter Inborn genetic diseases
p.Ala480= Single submitter Cowden syndrome 6
p.Ala5= Single submitter Inborn genetic diseases
p.Ala50= Single submitter Inborn genetic diseases
p.Arg121= Single submitter Inborn genetic diseases
p.Arg15= Single submitter Cowden syndrome 6
p.Arg174= Single submitter Inborn genetic diseases
p.Arg200= Single submitter Cowden syndrome 6
p.Arg206= Single submitter Inborn genetic diseases
p.Arg23= Single submitter Inborn genetic diseases
p.Arg241= Single submitter Inborn genetic diseases
p.Arg243= Single submitter Inborn genetic diseases
p.Arg251= Single submitter Inborn genetic diseases
p.Arg273= Single submitter Inborn genetic diseases
p.Arg41= Single submitter Inborn genetic diseases
p.Arg67= Single submitter Inborn genetic diseases
p.Arg69= Single submitter Inborn genetic diseases
p.Arg86= Single submitter Inborn genetic diseases
p.Asn199= Single submitter Inborn genetic diseases
p.Asn231= Single submitter Cowden syndrome 6
p.Asn279= Single submitter Inborn genetic diseases
p.Asn31= Single submitter Inborn genetic diseases
p.Asn324= Single submitter Inborn genetic diseases
p.Asn54= Single submitter Inborn genetic diseases
p.Asp119= Single submitter Cowden syndrome 6
p.Asp221= Single submitter Inborn genetic diseases
p.Asp262= Single submitter Inborn genetic diseases
p.Asp32= Single submitter Inborn genetic diseases
p.Asp323= Single submitter
p.Asp353= Single submitter Inborn genetic diseases
p.Asp46= Single submitter Inborn genetic diseases
p.Cys224= Single submitter Inborn genetic diseases
p.Cys60= Single submitter Inborn genetic diseases
p.Gln104= Single submitter Inborn genetic diseases
p.Gln113= Single submitter Inborn genetic diseases
p.Gln218= Single submitter Inborn genetic diseases
p.Gln59= Single submitter Inborn genetic diseases
p.Gln61= Single submitter Inborn genetic diseases
p.Glu115= Single submitter Inborn genetic diseases
p.Glu135= Single submitter Inborn genetic diseases
p.Glu149= Single submitter Inborn genetic diseases
p.Glu184= Single submitter Cowden syndrome 6
p.Glu191= Single submitter Inborn genetic diseases
p.Glu247= Single submitter Inborn genetic diseases
p.Glu267= Single submitter Inborn genetic diseases
p.Glu314= Single submitter Cowden syndrome 6
p.Glu322= Single submitter Inborn genetic diseases
p.Glu355= Single submitter Inborn genetic diseases
p.Glu359= Single submitter Inborn genetic diseases
p.Glu365= Single submitter Inborn genetic diseases
p.Glu375= Single submitter Inborn genetic diseases
p.Glu397= Single submitter Inborn genetic diseases
p.Glu418= Single submitter Inborn genetic diseases

Uncertain significance 404

Showing the top 300 by review status; the full set is in the sitemap.

c.1260+5G>A Multiple submitters AKT1-related disorder
c.176-3C>T Multiple submitters Proteus syndrome
c.176-5C>A Multiple submitters Cowden syndrome 6
c.288-3C>T Multiple submitters Cowden syndrome 6
p.Ala139Pro Multiple submitters Cowden syndrome 6 ⚠
p.Ala171Thr Multiple submitters Cowden syndrome 6 ⚠
p.Ala212Gly Multiple submitters Cowden syndrome 6 ⚠
p.Arg121Gln Multiple submitters Cowden syndrome 6 ⚠
p.Arg121Leu Multiple submitters Cowden syndrome 6 ⚠
p.Arg144His Multiple submitters Cowden syndrome 6 ⚠
p.Arg174Cys Multiple submitters colorectal cancer ⚠
p.Arg222Cys Multiple submitters Cowden syndrome 6 ⚠
p.Arg23Gln Multiple submitters Cowden syndrome 6 ⚠
p.Arg249Gln Multiple submitters Cowden syndrome 6
p.Arg251Cys Multiple submitters Cowden syndrome 6 ⚠
p.Arg346Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg346His Multiple submitters Cowden syndrome 6 ⚠
p.Arg367Cys Multiple submitters Cowden syndrome 6
p.Arg370Ser Multiple submitters Cowden syndrome 6 ⚠
p.Arg41Gln Multiple submitters Cowden syndrome 6 ⚠
p.Arg48Cys Multiple submitters Cowden syndrome 6 ⚠
p.Asn128Ile Multiple submitters Inborn genetic diseases ⚠
p.Asn324Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn351Ser Multiple submitters Inborn genetic diseases ⚠
p.Asp119Gly Multiple submitters Inborn genetic diseases ⚠
p.Gln454Arg Multiple submitters Cowden syndrome 6 ⚠
p.Glu117Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu397Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu418Gln Multiple submitters Inborn genetic diseases ⚠
p.Glu459Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu464Lys Multiple submitters Cowden syndrome 6 ⚠
p.Gly109Ser Multiple submitters Cowden syndrome 6 ⚠
p.Gly327Ser Multiple submitters Cowden syndrome 6 ⚠
p.Gly394Arg Multiple submitters Inborn genetic diseases ⚠
p.His415Gln Multiple submitters Cowden syndrome 6 ⚠
p.His415Tyr Multiple submitters Cowden syndrome 6 ⚠
p.Ile19Val Multiple submitters Cowden syndrome 6 ⚠
p.Ile257Thr Multiple submitters Cowden syndrome 6 ⚠
p.Leu110Phe Multiple submitters Inborn genetic diseases ⚠
p.Lys377Arg Multiple submitters Inborn genetic diseases ⚠
p.Lys400Glu Multiple submitters Cowden syndrome 6 ⚠
p.Met147Thr Multiple submitters Inborn genetic diseases ⚠
p.Met363Thr Multiple submitters Inborn genetic diseases ⚠
p.Met458Lys Multiple submitters Cowden syndrome 6 ⚠
p.Met458Val Multiple submitters Cowden syndrome 6 ⚠
p.Phe120Leu Multiple submitters Cowden syndrome 6 ⚠
p.Phe245Cys Multiple submitters Inborn genetic diseases ⚠
p.Pro125Leu Multiple submitters Cowden syndrome 6 ⚠
p.Pro423Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro93His Multiple submitters Inborn genetic diseases ⚠
p.Ser240Cys Multiple submitters Inborn genetic diseases
p.Ser266Leu Multiple submitters Cowden syndrome 6 ⚠
p.Ser431Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser463Gly Multiple submitters Cowden syndrome 6 ⚠
p.Thr371Met Multiple submitters Inborn genetic diseases ⚠
p.Thr430Met Multiple submitters Cowden syndrome 6 ⚠
p.Val416Met Multiple submitters Inborn genetic diseases ⚠
c.1172+5G>A Single submitter Cowden syndrome 6
c.1173-107C>G Single submitter
c.1260+1G>C Single submitter Cowden syndrome 6
c.1260+4C>T Single submitter Cowden syndrome 6
c.175+5G>A Single submitter Cowden syndrome 6
c.176-3C>G Single submitter Cowden syndrome 6
c.176-6C>T Single submitter Inborn genetic diseases
c.287+402_287+403delinsGG Single submitter lung adenocarcinoma
c.287+5G>A Single submitter Cowden syndrome 6
c.288-1G>C Single submitter Cowden syndrome 6
c.288-28_288-9dup Single submitter Cowden syndrome 6
c.288-9_288-8delinsGA Single submitter Cowden syndrome 6
c.436-3T>C Single submitter Cowden syndrome 6
c.47-4_47-3del Single submitter Cowden syndrome 6
c.567+16T>G Single submitter hereditary breast carcinoma
c.567+5G>T Single submitter Cowden syndrome 6
c.633+300T>C Single submitter squamous cell carcinoma
c.634-1G>A Single submitter
c.702+5G>A Single submitter Cowden syndrome 6
c.702+5G>T Single submitter Cowden syndrome 6
c.703-70A>G Single submitter
c.828+4C>T Single submitter Cowden syndrome 6
c.828+5G>A Single submitter Cowden syndrome 6
c.828+5G>C Single submitter Cowden syndrome 6
c.828+6C>G Single submitter Cowden syndrome 6
c.957+3G>C Single submitter Cowden syndrome 6
c.957+3G>T Single submitter Cowden syndrome 6
c.958-3C>T Single submitter Cowden syndrome 6
c.-4C>A Single submitter
c.*8G>T Single submitter
p.Ala139Val Single submitter Cowden syndrome 6 ⚠
p.Ala171Val Single submitter Cowden syndrome 6 ⚠
p.Ala177Pro Single submitter Inborn genetic diseases ⚠
p.Ala193Gly Single submitter Inborn genetic diseases ⚠
p.Ala212Pro Single submitter Inborn genetic diseases ⚠
p.Ala212Ser Single submitter Inborn genetic diseases ⚠
p.Ala250Val Single submitter Cowden syndrome 6
p.Ala255Thr Single submitter Cowden syndrome 6 ⚠
p.Ala317Val Single submitter ⚠
p.Ala329Gly Single submitter Inborn genetic diseases
p.Ala329Thr Single submitter Cowden syndrome 6 ⚠
p.Ala329Val Single submitter Cowden syndrome 6 ⚠
p.Ala399Thr Single submitter Cowden syndrome 6 ⚠
p.Ala444Thr Single submitter Inborn genetic diseases ⚠
p.Ala480Asp Single submitter Inborn genetic diseases ⚠
p.Ala50Thr Single submitter Cowden syndrome 6 ⚠
p.Ala58Gly Single submitter Inborn genetic diseases ⚠
p.Ala58Ser Single submitter Inborn genetic diseases ⚠
p.Arg121fs Single submitter
p.Arg121Pro Single submitter Inborn genetic diseases ⚠
p.Arg121Trp Single submitter Cowden syndrome 6 ⚠
p.Arg144Cys Single submitter Cowden syndrome 6 ⚠
p.Arg144Ser Single submitter Inborn genetic diseases ⚠
p.Arg174His Single submitter Cowden syndrome 6 ⚠
p.Arg200His Single submitter Cowden syndrome 6
p.Arg206Gly Single submitter Inborn genetic diseases ⚠
p.Arg222His Single submitter Cowden syndrome 6 ⚠
p.Arg241Gln Single submitter Cowden syndrome 6 ⚠
p.Arg241Leu Single submitter Inborn genetic diseases ⚠
p.Arg241Trp Single submitter Cowden syndrome 6 ⚠
p.Arg243Cys Single submitter Cowden syndrome 6 ⚠
p.Arg243His Single submitter Inborn genetic diseases
p.Arg249Trp Single submitter Cowden syndrome 6 ⚠
p.Arg251His Single submitter Inborn genetic diseases
p.Arg273Gln Single submitter Cowden syndrome 6 ⚠
p.Arg273Trp Single submitter Cowden syndrome 6 ⚠
p.Arg328His Single submitter Cowden syndrome 6
p.Arg367His Single submitter ⚠
p.Arg367Ser Single submitter Cowden syndrome 6 ⚠
p.Arg370Cys Single submitter Cowden syndrome 6 ⚠
p.Arg370His Single submitter Cowden syndrome 6 ⚠
p.Arg406Cys Single submitter Cowden syndrome 6 ⚠
p.Arg406His Single submitter Cowden syndrome 6 ⚠
p.Arg406Leu Single submitter Inborn genetic diseases ⚠
p.Arg406Ser Single submitter Inborn genetic diseases ⚠
p.Arg465Cys Single submitter Cowden syndrome 6 ⚠
p.Arg466Gly Single submitter Inborn genetic diseases ⚠
p.Arg466Lys Single submitter Cowden syndrome 6 ⚠
p.Arg48His Single submitter Cowden syndrome 6 ⚠
p.Arg67Gln Single submitter Cowden syndrome 6 ⚠
p.Arg67Trp Single submitter Cowden syndrome 6 ⚠
p.Arg69Gln Single submitter Cowden syndrome 6 ⚠
p.Arg76Cys Single submitter Cowden syndrome 6 ⚠
p.Arg76His Single submitter Cowden syndrome 6 ⚠
p.Arg86His Single submitter Cowden syndrome 6 ⚠
p.Arg96fs Single submitter
p.Arg96Trp Single submitter Cowden syndrome 6 ⚠
p.Asn128Asp Single submitter Inborn genetic diseases ⚠
p.Asn128Lys Single submitter Inborn genetic diseases ⚠
p.Asn199Thr Single submitter ⚠
p.Asn231Lys Single submitter Inborn genetic diseases ⚠
p.Asn231Ser Single submitter Cowden syndrome 6 ⚠
p.Asn269Lys Single submitter Inborn genetic diseases ⚠
p.Asn279Ile Single submitter Inborn genetic diseases ⚠
p.Asn31Ser Single submitter Cowden syndrome 6 ⚠
p.Asn53Lys Single submitter Inborn genetic diseases ⚠
p.Asn54Asp Single submitter Inborn genetic diseases ⚠
p.Asn54Ile Single submitter Cowden syndrome 6 ⚠
p.Asp108Val Single submitter Inborn genetic diseases ⚠
p.Asp221Asn Single submitter Cowden syndrome 6 ⚠
p.Asp221Gly Single submitter Cowden syndrome 6 ⚠
p.Asp248Asn Single submitter Inborn genetic diseases ⚠
p.Asp262Gly Single submitter Inborn genetic diseases ⚠
p.Asp262Tyr Single submitter Inborn genetic diseases ⚠
p.Asp283Gly Single submitter Inborn genetic diseases ⚠
p.Asp285Tyr Single submitter Inborn genetic diseases
p.Asp325Glu Single submitter Inborn genetic diseases ⚠
p.Asp387Asn Single submitter Cowden syndrome 6 ⚠
p.Asp3Asn Single submitter Cowden syndrome 6 ⚠
p.Asp439His Single submitter Inborn genetic diseases ⚠
p.Asp453Glu Single submitter Inborn genetic diseases ⚠
p.Asp453His Single submitter Cowden syndrome 6 ⚠
p.Asp456Asn Single submitter Inborn genetic diseases ⚠
p.Cys310Gly Single submitter Inborn genetic diseases ⚠
p.Cys460Arg Single submitter Inborn genetic diseases ⚠
p.Cys460Phe Single submitter Inborn genetic diseases ⚠
p.Cys460Tyr Single submitter Cowden syndrome 6 ⚠
p.Cys60Tyr Single submitter Cowden syndrome 6 ⚠
p.Cys77Phe Single submitter Cowden syndrome 6 ⚠
p.Cys77Trp Single submitter Inborn genetic diseases ⚠
p.Gln113Arg Single submitter Inborn genetic diseases ⚠
p.Gln113Glu Single submitter Inborn genetic diseases ⚠
p.Gln203Arg Single submitter Inborn genetic diseases ⚠
p.Gln352Arg Single submitter Inborn genetic diseases ⚠
p.Gln352Lys Single submitter Inborn genetic diseases ⚠
p.Gln404Arg Single submitter Inborn genetic diseases ⚠
p.Gln414His Single submitter Cowden syndrome 6 ⚠
p.Gln43Arg Single submitter Inborn genetic diseases ⚠
p.Gln445Glu Single submitter Inborn genetic diseases ⚠
p.Gln454Glu Single submitter Inborn genetic diseases ⚠
p.Gln471Leu Single submitter Inborn genetic diseases
p.Gln47His Single submitter Cowden syndrome 6 ⚠
p.Gln79His Single submitter colorectal cancer ⚠
p.Glu114Asp Single submitter Inborn genetic diseases ⚠
p.Glu115Lys Single submitter Cowden syndrome 6 ⚠
p.Glu117_Met118insGluGlu Single submitter Cowden syndrome 6
p.Glu117del Single submitter Cowden syndrome 6
p.Glu117dup Single submitter Cowden syndrome 6
p.Glu117Lys Single submitter Cowden syndrome 6 ⚠
p.Glu132Lys Single submitter Cowden syndrome 6 ⚠
p.Glu133Lys Single submitter Inborn genetic diseases ⚠
p.Glu135Gly Single submitter Inborn genetic diseases ⚠
p.Glu149Gln Single submitter Inborn genetic diseases ⚠
p.Glu169Asp Single submitter Inborn genetic diseases ⚠
p.Glu191Lys Single submitter Inborn genetic diseases ⚠
p.Glu198Gly Single submitter Inborn genetic diseases ⚠
p.Glu228Asp Single submitter Inborn genetic diseases ⚠
p.Glu242Gly Single submitter Inborn genetic diseases ⚠
p.Glu242Lys Single submitter Inborn genetic diseases ⚠
p.Glu247Asp Single submitter Cowden syndrome 6 ⚠
p.Glu247Lys Single submitter Cowden syndrome 6 ⚠
p.Glu267Lys Single submitter Cowden syndrome 6 ⚠
p.Glu322Lys Single submitter ⚠
p.Glu365Val Single submitter Inborn genetic diseases ⚠
p.Glu375Gln Single submitter Inborn genetic diseases ⚠
p.Glu375Lys Single submitter Cowden syndrome 6 ⚠
p.Glu397Ala Single submitter Cowden syndrome 6 ⚠
p.Glu397Asp Single submitter Cowden syndrome 6 ⚠
p.Glu397Gln Single submitter Cowden syndrome 6 ⚠
p.Glu40Gln Single submitter Inborn genetic diseases ⚠
p.Glu40Gly Single submitter Inborn genetic diseases ⚠
p.Glu40Val Single submitter Inborn genetic diseases ⚠
p.Glu418Lys Single submitter ⚠
p.Glu440Asp Single submitter Cowden syndrome 6 ⚠
p.Glu440Lys Single submitter Cowden syndrome 6 ⚠
p.Glu441Gly Single submitter Inborn genetic diseases ⚠
p.Glu441Leu Single submitter
p.Glu459Gly Single submitter Inborn genetic diseases ⚠
p.Glu464Asp Single submitter Inborn genetic diseases ⚠
p.Glu85Ala Single submitter Inborn genetic diseases ⚠
p.Glu85Lys Single submitter Cowden syndrome 6 ⚠
p.Glu91Gly Single submitter Inborn genetic diseases ⚠
p.Glu94Ala Single submitter Cowden syndrome 6 ⚠
p.Glu95Lys Single submitter Inborn genetic diseases ⚠
p.Glu97Gly Single submitter Inborn genetic diseases ⚠
p.Glu98Gly Single submitter Inborn genetic diseases ⚠
p.Glu98Lys Single submitter Inborn genetic diseases ⚠
p.Gly109Arg Single submitter Inborn genetic diseases ⚠
p.Gly10Cys Single submitter Inborn genetic diseases ⚠
p.Gly233= Single submitter Cowden syndrome 6
p.Gly233Ala Single submitter Inborn genetic diseases ⚠
p.Gly254Ser Single submitter Cowden syndrome 6
p.Gly286Ala Single submitter Inborn genetic diseases ⚠
p.Gly303Ser Single submitter Cowden syndrome 6 ⚠
p.Gly327Arg Single submitter Inborn genetic diseases ⚠
p.Gly327Asp Single submitter Inborn genetic diseases ⚠
p.Gly373Asp Single submitter Inborn genetic diseases ⚠
p.Gly373Ser Single submitter Cowden syndrome 6 ⚠
p.Gly382Ala Single submitter Inborn genetic diseases ⚠
p.Gly393Ser Single submitter Inborn genetic diseases ⚠
p.Gly395Ser Single submitter Inborn genetic diseases ⚠
p.Gly410Ala Single submitter Inborn genetic diseases ⚠
p.Gly410Ser Single submitter Cowden syndrome 6 ⚠
p.Gly478Ser Single submitter Cowden syndrome 6 ⚠
p.His13Tyr Single submitter Inborn genetic diseases ⚠
p.His207Gln Single submitter Inborn genetic diseases ⚠
p.His207Leu Single submitter Cowden syndrome 6 ⚠
p.His220Asp Single submitter Inborn genetic diseases ⚠
p.His220Leu Single submitter Inborn genetic diseases ⚠
p.His238Arg Single submitter Inborn genetic diseases ⚠
p.His265Arg Single submitter Inborn genetic diseases ⚠
p.His287Arg Single submitter Inborn genetic diseases ⚠
p.His287Tyr Single submitter Inborn genetic diseases ⚠
p.His354Arg Single submitter Inborn genetic diseases ⚠
p.His354Asp Single submitter Inborn genetic diseases ⚠
p.His354Tyr Single submitter Inborn genetic diseases ⚠
p.His415Arg Single submitter Inborn genetic diseases ⚠
p.His468Gln Single submitter Inborn genetic diseases ⚠
p.Ile165Phe Single submitter Cowden syndrome 6 ⚠
p.Ile165Val Single submitter Cowden syndrome 6 ⚠
p.Ile180Ser Single submitter Inborn genetic diseases ⚠
p.Ile180Thr Single submitter Inborn genetic diseases ⚠
p.Ile186Met Single submitter Inborn genetic diseases ⚠
p.Ile186Phe Single submitter Inborn genetic diseases ⚠
p.Ile257Val Single submitter Inborn genetic diseases ⚠
p.Ile300Leu Single submitter Inborn genetic diseases
p.Ile366Thr Single submitter Cowden syndrome 6 ⚠
p.Ile36fs Single submitter
p.Ile36Phe Single submitter Inborn genetic diseases ⚠
p.Ile36Thr Single submitter Cowden syndrome 6 ⚠
p.Ile36Val Single submitter Cowden syndrome 6 ⚠
p.Ile447Asn Single submitter Inborn genetic diseases ⚠
p.Ile447Met Single submitter Inborn genetic diseases ⚠
p.Ile447Thr Single submitter Inborn genetic diseases ⚠
p.Ile449Phe Single submitter Cowden syndrome 6
p.Ile449Thr Single submitter Inborn genetic diseases ⚠
p.Ile6Leu Single submitter ⚠
p.Ile6Thr Single submitter Cowden syndrome 6 ⚠
p.Ile6Val Single submitter Cowden syndrome 6 ⚠
p.Ile75Met Single submitter Cowden syndrome 6 ⚠
p.Ile75Val Single submitter Inborn genetic diseases ⚠
p.Leu12Met Single submitter Inborn genetic diseases ⚠
p.Leu153Met Single submitter Inborn genetic diseases ⚠
p.Leu153Pro Single submitter Cowden syndrome 6 ⚠
p.Leu213Pro Single submitter Inborn genetic diseases ⚠
p.Leu223Val Single submitter Inborn genetic diseases ⚠
p.Leu239Met Single submitter Inborn genetic diseases ⚠
p.Leu275Val Single submitter Inborn genetic diseases ⚠
p.Leu357Arg Single submitter Inborn genetic diseases ⚠
p.Leu380Val Single submitter Inborn genetic diseases
p.Leu421Phe Single submitter Cowden syndrome 6 ⚠
p.Leu421Pro Single submitter Inborn genetic diseases ⚠
p.Lys112Gln Single submitter Inborn genetic diseases ⚠