| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 1B +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +5 more | |
| | | Copy number gain | not provided | |
Click to view in NCBI Gene