| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Pontocerebellar hypoplasia type 1B | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 1B +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pontocerebellar hypoplasia type 1B | |
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