| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | SACS, SACS-AS1 (R1498P +1 more) | Single nucleotide variant (missense variant) | Charlevoix-Saguenay spastic ataxia | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Spastic paraplegia +2 more | |
Click to view in NCBI Gene