| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 2D | |
| | | Microsatellite (frameshift variant) | Pontocerebellar hypoplasia type 2D +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Pontocerebellar hypoplasia type 2D +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 2D | |
| | | Single nucleotide variant (nonsense) | Pontocerebellar hypoplasia type 2D +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene