| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Charlevoix-Saguenay spastic ataxia +1 more | |
| | | Single nucleotide variant (nonsense) | Charlevoix-Saguenay spastic ataxia | |
| | | Single nucleotide variant (nonsense) | Spastic paraplegia +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene