AKT3 — 212 ClinVar variants
All ClinVar germline AKT3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 67 flagged for review →
6 Pathogenic · 2 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 10 Conflicting · 25 Benign · 3 Benign/Likely benign · 96 Likely benign · 65 Uncertain significance
Full AKT3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 67
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
AKT3 p.Asn229Ser
Pathogenic
Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
Predictors agree, ClinVar conflicts 8
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
AKT3 p.Arg108Ser
Conflicting
Single submitter
Inborn genetic diseases
-
AKT3 p.Arg401Lys
Conflicting
Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
-
AKT3 p.Asn229His
Conflicting
Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
-
AKT3 p.Ile444Val
Conflicting
Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
-
AKT3 p.Ile6Val
Conflicting
Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
-
AKT3 p.Pro466Leu
Conflicting
Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
-
AKT3 p.Thr137Ala
Conflicting
Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
-
AKT3 p.Val268Ala
Conflicting
Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
Predictors lean, ClinVar uncertain 36
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
AKT3 p.Pro424Leu
Uncertain significance
Multiple submitters
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
-
AKT3 p.Tyr251Cys
Uncertain significance
Multiple submitters
Seizure
-
AKT3 p.Ala135Val
Uncertain significance
Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- AKT3 p.Ala396Glu Uncertain significance Single submitter
-
AKT3 p.Arg220Cys
Uncertain significance
Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
-
AKT3 p.Arg75Lys
Uncertain significance
Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- AKT3 p.Asn321Thr Uncertain significance Single submitter
- AKT3 p.Asp280Gly Uncertain significance Single submitter
-
AKT3 p.Asp280Tyr
Uncertain significance
Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
-
AKT3 p.Asp320Gly
Uncertain significance
Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- AKT3 p.Asp320Val Uncertain significance Single submitter
-
AKT3 p.Gln13Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- AKT3 p.Glu245Val Uncertain significance Single submitter
-
AKT3 p.Glu94Lys
Uncertain significance
Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
-
AKT3 p.Gly296Glu
Uncertain significance
Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
-
AKT3 p.Gly333Glu
Uncertain significance
Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
-
AKT3 p.Ile128Val
Uncertain significance
Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
-
AKT3 p.Ile178Val
Uncertain significance
Single submitter
AKT3-related disorder
- AKT3 p.Ile444Thr Uncertain significance Single submitter
- AKT3 p.Lys181Thr Uncertain significance Single submitter
- AKT3 p.Phe148Leu Uncertain significance Single submitter
-
AKT3 p.Pro315Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- AKT3 p.Pro420Leu Uncertain significance Single submitter
-
AKT3 p.Pro420Ser
Uncertain significance
Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- AKT3 p.Pro421Ser Uncertain significance Single submitter
-
AKT3 p.Thr122Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
AKT3 p.Thr122Pro
Uncertain significance
Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
-
AKT3 p.Thr122Ser
Uncertain significance
Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
-
AKT3 p.Thr144Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
AKT3 p.Thr288Ile
Uncertain significance
Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
-
AKT3 p.Thr80Ser
Uncertain significance
Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- AKT3 p.Tyr174His Uncertain significance Single submitter
-
AKT3 p.Tyr49His
Uncertain significance
Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
-
AKT3 p.Val183Ala
Uncertain significance
Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- AKT3 p.Val82Ala Uncertain significance Single submitter
-
AKT3 p.Glu84Lys
Uncertain significance
No assertion criteria
AKT3-related disorder
Predictors split 22
The independent predictors disagree with each other — read with care.
-
AKT3 p.Glu361Gly
Likely benign
Expert panel
overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
-
AKT3 p.Asp322Asn
Pathogenic/Likely pathogenic
Multiple submitters
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
-
AKT3 p.Ile128Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- AKT3 p.Arg166Gln Uncertain significance Single submitter
- AKT3 p.Arg325Gln Uncertain significance Single submitter
- AKT3 p.Asn70Ser Uncertain significance Single submitter
- AKT3 p.Asp394Asn Uncertain significance Single submitter
-
AKT3 p.Asp46Asn
Uncertain significance
Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- AKT3 p.Ile163Val Uncertain significance Single submitter
- AKT3 p.Lys397Arg Uncertain significance Single submitter
- AKT3 p.Met145Val Uncertain significance Single submitter
-
AKT3 p.Met176Val
Uncertain significance
Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
-
AKT3 p.Met336Val
Uncertain significance
Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
-
AKT3 p.Ser120Asn
Uncertain significance
Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
-
AKT3 p.Thr137Ile
Uncertain significance
Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
-
AKT3 p.Tyr150Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- AKT3 p.Tyr18His Uncertain significance Single submitter
-
AKT3 p.Tyr414Cys
Uncertain significance
Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
-
AKT3 p.Val228Ile
Uncertain significance
Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
-
AKT3 p.Val426Leu
Uncertain significance
Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- AKT3 p.Val82Leu Uncertain significance Single submitter
-
AKT3 p.Asn321Lys
Pathogenic
No assertion criteria
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
All AKT3 variants
Pathogenic 6
- p.Glu17Lys Expert panel overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
- p.Asn229Ile Single submitter
- p.Asn229Ser Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ⚠
- p.Glu114Ter Single submitter AKT3 related microcephaly
- p.Lys180Glu Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- p.Asn321Lys No assertion criteria megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ⚠
Pathogenic/Likely pathogenic 2
- p.Arg465Trp Multiple submitters AKT3-related disorder
- p.Asp322Asn Multiple submitters megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ⚠
Likely pathogenic 5
- p.Asp322Tyr Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- p.Lys161Gln Single submitter
- p.Trp79Cys Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- p.Val183Asp Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- p.Leu77His No assertion criteria megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
Conflicting classifications of pathogenicity 10
- c.820-10T>G Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- c.*5462G>A Single submitter
- p.Arg108Ser Single submitter Inborn genetic diseases ⚠
- p.Arg401Lys Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ⚠
- p.Asn229His Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ⚠
- p.Ile444Val Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ⚠
- p.Ile6Val Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ⚠
- p.Pro466Leu Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ⚠
- p.Thr137Ala Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ⚠
- p.Val268Ala Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ⚠
Benign 25
- c.285-13C>T Multiple submitters megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- c.628-25C>T Multiple submitters
- c.696+147G>A Multiple submitters
- p.Asn348= Multiple submitters megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- c.1163+16C>T Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- c.1164-172C>T Single submitter
- c.1251+15T>C Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- c.173-121A>T Single submitter
- c.173-23_173-20del Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- c.285-149G>A Single submitter
- c.430-141A>G Single submitter
- c.430-146A>G Single submitter
- c.430-17dup Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- c.430-239C>G Single submitter
- c.46+11C>T Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- c.46+12G>A Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- c.627+159G>T Single submitter
- c.628-9dup Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- c.819+17del Single submitter
- c.-112-388dup Single submitter
- c.*5155_*5159dup Single submitter
- c.*6+266A>G Single submitter
- c.*6+96dup Single submitter
- p.Pro466= Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- p.Ser264= Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
Benign/Likely benign 3
- p.Asp453= Multiple submitters megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- p.Tyr269= Multiple submitters megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- c.819+2T>A No assertion criteria
Likely benign 96
- p.Glu361Gly Expert panel overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes ⚠
- p.Lys168= Expert panel overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
- c.1163+17G>A Multiple submitters megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- c.1252-120G>A Multiple submitters
- c.172+70T>C Multiple submitters
- c.562-95C>T Multiple submitters
- c.820-18A>G Multiple submitters megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- c.948+105A>G Multiple submitters
- c.*6+147T>C Multiple submitters
- p.Asp280= Multiple submitters megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- p.Lys294= Multiple submitters megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- p.Ser55= Multiple submitters megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- p.Thr302= Multiple submitters megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- p.Thr91= Multiple submitters megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- c.1164-7C>T Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- c.1251+49A>G Single submitter
- c.1252-10C>G Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- c.1252-12185A>C Single submitter
- c.1252-20_1252-19del Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- c.1252-20C>G Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- c.172+132T>G Single submitter
- c.172+13T>A Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- c.172+19T>C Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- c.173-121A>G Single submitter
- c.173-177G>A Single submitter
- c.173-207_173-203dup Single submitter
- c.284+10T>C Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- c.284+211T>C Single submitter
- c.284+253T>G Single submitter
- c.429+15C>T Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- c.429+8A>G Single submitter
- c.430-11G>T Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- c.430-19T>C Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- c.430-9del Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- c.46+139GT[2] Single submitter
- c.46+18C>G Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- c.46+212_46+216del Single submitter
- c.47-10C>T Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- c.47-17G>A Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- c.47-18C>T Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- c.47-4G>A Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- c.562-17C>T Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- c.562-6T>C Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- c.627+114G>A Single submitter
- c.627+123G>A Single submitter
- c.627+7G>A Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- c.628-18dup Single submitter
- c.628-220_628-215del Single submitter
- c.628-227A>G Single submitter
- c.628-52_628-47del Single submitter
- c.696+209C>T Single submitter
- c.819+189G>A Single submitter
- c.820-10T>A Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- c.820-12C>G Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- c.820-466G>C Single submitter
- c.948+14C>G Single submitter
- c.948+9C>A Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- c.948+9C>T Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- c.949-18T>C Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- c.949-222dup Single submitter
- c.949-237del Single submitter
- c.-112-173G>T Single submitter
- c.-112-325C>T Single submitter
- c.-43A>G Single submitter
- c.*5398_*5402dup Single submitter
- c.*7T>C Single submitter
- p.Arg367= Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- p.Asn462= Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- p.Asp188= Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- p.Asp350= Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- p.Gln425= Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- p.Glu115= Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- p.Glu132= Single submitter
- p.Glu240= Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- p.Glu311= Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- p.Glu65= Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- p.Gly231= Single submitter
- p.His139= Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- p.Ile102= Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- p.Ile184= Single submitter
- p.Leu332= Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- p.Lys180= Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- p.Lys58= Single submitter
- p.Phe243= Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- p.Phe365= Single submitter
- p.Phe405= Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- p.Pro121= Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- p.Pro448Thr Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- p.Ser2= Single submitter
- p.Ser472= Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- p.Thr368= Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- p.Val242= Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- c.*5453T>G No assertion criteria AKT3-related disorder
- c.*5510_*5512del No assertion criteria AKT3-related disorder
- p.Pro448= No assertion criteria AKT3-related disorder
- p.Tyr174= No assertion criteria AKT3-related disorder
Uncertain significance 65
- p.Ile128Met Multiple submitters Inborn genetic diseases ⚠
- p.Pro424Leu Multiple submitters megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ⚠
- p.Tyr251Cys Multiple submitters Seizure ⚠
- c.1251+5G>C Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- c.1251+5G>T Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- c.173-3T>C Single submitter intellectual disability
- c.284+2T>G Single submitter
- c.47-52492A>G Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- c.948+3A>G Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- p.Ala135Val Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ⚠
- p.Ala396Glu Single submitter ⚠
- p.Arg166Gln Single submitter ⚠
- p.Arg166Ter Single submitter
- p.Arg220Cys Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ⚠
- p.Arg325Gln Single submitter ⚠
- p.Arg75Lys Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ⚠
- p.Asn321Thr Single submitter ⚠
- p.Asn70Ser Single submitter ⚠
- p.Asp280Gly Single submitter ⚠
- p.Asp280Tyr Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ⚠
- p.Asp320Gly Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ⚠
- p.Asp320Val Single submitter ⚠
- p.Asp394Asn Single submitter ⚠
- p.Asp46Asn Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ⚠
- p.Cys307fs Single submitter
- p.Gln13Arg Single submitter Inborn genetic diseases ⚠
- p.Glu182del Single submitter AKT3-related disorder
- p.Glu245Val Single submitter ⚠
- p.Glu94Lys Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ⚠
- p.Gly296Glu Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ⚠
- p.Gly333Glu Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ⚠
- p.Ile128Val Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ⚠
- p.Ile163Val Single submitter ⚠
- p.Ile178Val Single submitter AKT3-related disorder ⚠
- p.Ile444Thr Single submitter ⚠
- p.Leu51fs Single submitter
- p.Lys181Thr Single submitter ⚠
- p.Lys397Arg Single submitter ⚠
- p.Met145Val Single submitter ⚠
- p.Met176Val Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ⚠
- p.Met336Val Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ⚠
- p.Phe148Leu Single submitter ⚠
- p.Pro315Ser Single submitter Inborn genetic diseases ⚠
- p.Pro420Leu Single submitter ⚠
- p.Pro420Ser Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ⚠
- p.Pro421Ser Single submitter ⚠
- p.Ser120Asn Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ⚠
- p.Thr122Asn Single submitter Inborn genetic diseases ⚠
- p.Thr122Pro Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ⚠
- p.Thr122Ser Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ⚠
- p.Thr137Ile Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ⚠
- p.Thr144Lys Single submitter Inborn genetic diseases ⚠
- p.Thr288Ile Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ⚠
- p.Thr80Ser Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ⚠
- p.Tyr150Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr174His Single submitter ⚠
- p.Tyr18His Single submitter ⚠
- p.Tyr414Cys Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ⚠
- p.Tyr49His Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ⚠
- p.Val183Ala Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ⚠
- p.Val228Ile Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ⚠
- p.Val426Leu Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ⚠
- p.Val82Ala Single submitter ⚠
- p.Val82Leu Single submitter ⚠
- p.Glu84Lys No assertion criteria AKT3-related disorder ⚠