| | | Single nucleotide variant (3 prime UTR variant +1 more) | AKT3-related condition | |
| | | Single nucleotide variant (synonymous variant) | AKT3-related condition | |
| | | Single nucleotide variant (synonymous variant) | AKT3-related condition | |
| | | Single nucleotide variant (intron variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Single nucleotide variant (synonymous variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Duplication (synonymous variant +2 more) | Bardet-Biedl syndrome 16 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Senior-Loken syndrome 7 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Senior-Loken syndrome 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Duplication (intron variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Single nucleotide variant (synonymous variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Single nucleotide variant (synonymous variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | SDCCAG8-related condition | |
| | | Microsatellite (inframe_deletion) | AKT3-related condition | |
| | | Single nucleotide variant (missense variant) | AKT3-related condition | |
| | | Copy number loss | Intellectual disability, autosomal dominant 22 | |
| | | Copy number loss | Intellectual disability, autosomal dominant 22 | |
| | | Copy number loss | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | LOC120947224, LOC121725076 +270 more | Copy number loss | Intellectual disability, autosomal dominant 22 | |
| | | Copy number loss | Intellectual disability, autosomal dominant 22 | |
| | | Copy number loss | Intellectual disability, autosomal dominant 22 | |
| | AKT3, SDCCAG8 (L379V +3 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Deletion | not provided | |
| | | Deletion | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | AKT3, SDCCAG8 (T703I +3 more) | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 16 +2 more | |
| | | Single nucleotide variant (intron variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | AKT3, SDCCAG8 (R401W +3 more) | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 16 +1 more | |
| | | Single nucleotide variant (intron variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Microsatellite (intron variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Senior-Loken syndrome 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | AKT3, SDCCAG8 (A706V +3 more) | Single nucleotide variant (missense variant +1 more) | Senior-Loken syndrome 7 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Senior-Loken syndrome 7 +1 more | |
| | AKT3, SDCCAG8 (S392N +3 more) | Single nucleotide variant (missense variant +1 more) | Senior-Loken syndrome 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Deletion (frameshift variant +2 more) | SDCCAG8-related condition +2 more | |
| | | Single nucleotide variant (missense variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Senior-Loken syndrome 7 +2 more | |
| | | Single nucleotide variant (missense variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Single nucleotide variant (synonymous variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome 16 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome 16 +1 more | |
| | AKT3, SDCCAG8 (E599D +3 more) | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 16 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome 16 +1 more | |
| | | Single nucleotide variant (intron variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Single nucleotide variant (splice donor variant +1 more) | Bardet-Biedl syndrome 16 +1 more | |
| | | Single nucleotide variant (intron variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Deletion | Developmental and epileptic encephalopathy, 54 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | AKT3, SDCCAG8 (R390fs +3 more) | Microsatellite (frameshift variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Intellectual disability, autosomal dominant 22 | |
| | AKT3, SDCCAG8 (C412fs +3 more) | Indel (3 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not specified | |
| | | Single nucleotide variant (intron variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Single nucleotide variant (synonymous variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Senior-Loken syndrome 7 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Single nucleotide variant (synonymous variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Senior-Loken syndrome 7 +1 more | |
| | | Single nucleotide variant (intron variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Duplication (intron variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome 16 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |