| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Aplasia/Hypoplasia of the cerebellum +1 more | |
| | | Single nucleotide variant (splice donor variant) | Motor polyneuropathy +2 more | |
Click to view in NCBI Gene