| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC130063979, PIK3R2 (S234R) | Single nucleotide variant (missense variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 +2 more | |
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