| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pontoneocerebellar hypoplasia +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Pontocerebellar hypoplasia type 2B | |
| | | Single nucleotide variant (missense variant +1 more) | Pontocerebellar hypoplasia type 2B +2 more | GConflicting classifications of pathogenicity |
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