| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 1A +3 more | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 1A +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | VRK1-related disorder +1 more | |
Click to view in NCBI Gene