| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Pontocerebellar hypoplasia type 5 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Global developmental delay +14 more | |
| | | Single nucleotide variant (nonsense) | Pontocerebellar hypoplasia type 4 | |
Click to view in NCBI Gene