| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia +4 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Charlevoix-Saguenay spastic ataxia | |
| | | Deletion (frameshift variant) | Charlevoix-Saguenay spastic ataxia | |
| | | Single nucleotide variant (nonsense) | Charlevoix-Saguenay spastic ataxia | |
| | | Single nucleotide variant (missense variant) | Charlevoix-Saguenay spastic ataxia | |
Click to view in NCBI Gene