| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (missense variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Insertion (splice acceptor variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
Click to view in NCBI Gene