| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia, type 16 | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia, type 16 | |
| | LOC126860990, MINPP1 (R200Q +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Pontocerebellar hypoplasia, type 16 | |
| | LOC126860990, MINPP1 (E486K +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Pontocerebellar hypoplasia, type 16 | |
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