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Items: 1 to 100 of 102

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AKT3
(G333E)
Single nucleotide variant
(missense variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GUncertain significance
AKT3
Single nucleotide variant
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GLikely benign
AKT3
Single nucleotide variant
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GLikely benign
AKT3
Single nucleotide variant
(synonymous variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GLikely benign
AKT3
(R220C)
Single nucleotide variant
(missense variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GUncertain significance
AKT3
(P420S)
Single nucleotide variant
(missense variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GUncertain significance
AKT3
Single nucleotide variant
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GLikely benign
AKT3
(T122S)
Single nucleotide variant
(missense variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GUncertain significance
AKT3
Single nucleotide variant
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GLikely benign
AKT3
Single nucleotide variant
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GLikely benign
AKT3
(P424L)
Single nucleotide variant
(missense variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GUncertain significance
AKT3
Duplication
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GBenign
AKT3
(T122P)
Single nucleotide variant
(missense variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GUncertain significance
AKT3
Single nucleotide variant
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GLikely benign
AKT3
Single nucleotide variant
(synonymous variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GLikely benign
AKT3
Single nucleotide variant
(synonymous variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GLikely benign
ACTN2, AGT
+369 more
Copy number loss
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GPathogenic
AKT3
(G296E)
Single nucleotide variant
(missense variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GUncertain significance
AKT3, SDCCAG8
Deletion
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GPathogenic
AKT3
Single nucleotide variant
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GLikely benign
AKT3
Single nucleotide variant
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GLikely benign
AKT3
Microsatellite
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GLikely benign
AKT3
(A135V)
Single nucleotide variant
(missense variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GUncertain significance
AKT3
(M176V)
Single nucleotide variant
(missense variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GUncertain significance
AKT3
(S120N)
Single nucleotide variant
(missense variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GUncertain significance
AKT3
(V183A)
Single nucleotide variant
(missense variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GUncertain significance
AKT3
Single nucleotide variant
(synonymous variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GLikely benign
AKT3
Single nucleotide variant
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GLikely benign
AKT3
Single nucleotide variant
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GBenign
AKT3
Single nucleotide variant
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GBenign
AKT3
Single nucleotide variant
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GLikely benign
AKT3
Single nucleotide variant
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GBenign
AKT3
Single nucleotide variant
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GLikely benign
AKT3
Single nucleotide variant
(synonymous variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GLikely benign
AKT3
Single nucleotide variant
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GLikely benign
AKT3
Single nucleotide variant
(synonymous variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GLikely benign
AKT3
(P448T)
Single nucleotide variant
(missense variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GLikely benign
AKT3
Single nucleotide variant
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GLikely benign
AKT3
Single nucleotide variant
(synonymous variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GLikely benign
AKT3
Single nucleotide variant
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GLikely benign
AKT3
Single nucleotide variant
(synonymous variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GLikely benign
AKT3
Single nucleotide variant
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GLikely benign
AKT3
Single nucleotide variant
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GBenign
AKT3
Duplication
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GBenign
AKT3
Single nucleotide variant
(synonymous variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GLikely benign
AKT3
Single nucleotide variant
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GLikely benign
AKT3
Single nucleotide variant
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GLikely benign
AKT3
Single nucleotide variant
(synonymous variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GLikely benign
AKT3
Single nucleotide variant
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GLikely benign
AKT3
Deletion
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GBenign
AKT3
Single nucleotide variant
(synonymous variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GLikely benign
AKT3
(N229H)
Single nucleotide variant
(missense variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GLikely pathogenic
AKT3
(T137A)
Single nucleotide variant
(missense variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GUncertain significance
AKT3
(T137I)
Single nucleotide variant
(missense variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GUncertain significance
AKT3
Single nucleotide variant
(synonymous variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GUncertain significance
AKT3
Single nucleotide variant
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GUncertain significance
AKT3, SDCCAG8
Duplication
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GUncertain significance
AKT3
(R401K)
Single nucleotide variant
(missense variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GUncertain significance
AKT3
Single nucleotide variant
(synonymous variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GLikely benign
AKT3
Single nucleotide variant
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GUncertain significance
AKT3
Single nucleotide variant
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GUncertain significance
AKT3
(L77H)
Single nucleotide variant
(missense variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GLikely pathogenic
AKT3
(K180E)
Single nucleotide variant
(missense variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GPathogenic
AKT3
(W79C)
Single nucleotide variant
(missense variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GLikely pathogenic
AKT3
(E361G)
Single nucleotide variant
(missense variant)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
GLikely benign
AKT3
(I6V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
AKT3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
AKT3
Single nucleotide variant
(synonymous variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
+1 more
GLikely benign
AKT3
Single nucleotide variant
(synonymous variant +1 more)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GBenign
AKT3
(D322Y)
Single nucleotide variant
(missense variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GLikely pathogenic
AKT3
Single nucleotide variant
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GLikely benign
AKT3
(N321K)
Single nucleotide variant
(missense variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GPathogenic
AKT3
(V228I)
Single nucleotide variant
(missense variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GUncertain significance
AKT3
(P466L)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
AKT3
(T80S)
Single nucleotide variant
(missense variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GUncertain significance
AKT3
(Y414C)
Single nucleotide variant
(missense variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GUncertain significance
AKT3
(V268A)
Single nucleotide variant
(missense variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
+1 more
GConflicting classifications of pathogenicity
AKT3
(Y251C)
Single nucleotide variant
(missense variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
+1 more
GUncertain significance
AKT3
(I444V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AKT3
Single nucleotide variant
(synonymous variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GLikely benign
AKT3
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign/Likely benign
AKT3
Single nucleotide variant
(synonymous variant)
AKT3-related disorder
+1 more
GBenign/Likely benign
AKT3
Single nucleotide variant
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GLikely benign
AKT3
Single nucleotide variant
(synonymous variant)
AKT3-related disorder
+1 more
GLikely benign
AKT3
Single nucleotide variant
(synonymous variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
+1 more
GBenign
AKT3
Single nucleotide variant
(synonymous variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GLikely benign
AKT3
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign/Likely benign
AKT3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
AKT3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AKT3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
AKT3
Single nucleotide variant
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
+1 more
GUncertain significance
AKT3
Single nucleotide variant
(synonymous variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GLikely benign
AKT3
(R75K)
Single nucleotide variant
(missense variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GUncertain significance
AKT3
(V426L)
Single nucleotide variant
(missense variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GUncertain significance
AKT3
Single nucleotide variant
(synonymous variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
+1 more
GLikely benign
AKT3
Single nucleotide variant
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
+1 more
GLikely benign
AKT3
Single nucleotide variant
(intron variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
+1 more
GLikely benign
AKT3
(V183D)
Single nucleotide variant
(missense variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GLikely pathogenic
AKT3, AKT3-IT1
+33 more
Deletion
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GPathogenic
AKT3
(E17K)
Single nucleotide variant
(missense variant)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
GPathogenic
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