| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | LOC130009366, SACS (P10fs) | Deletion (5 prime UTR variant +1 more) | Charlevoix-Saguenay spastic ataxia +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene