| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (frameshift variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | LOC130063979, PIK3R2 (L185V) | Single nucleotide variant (missense variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (synonymous 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 | |
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