| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Pontoneocerebellar hypoplasia +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice donor variant) | Pontoneocerebellar hypoplasia +2 more | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 2E | |
Click to view in NCBI Gene