| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Charlevoix-Saguenay spastic ataxia +3 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | Spastic paraplegia +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Charlevoix-Saguenay spastic ataxia | |
| | | Single nucleotide variant (missense variant) | Charlevoix-Saguenay spastic ataxia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charlevoix-Saguenay spastic ataxia | |
| | | Deletion (frameshift variant) | Charlevoix-Saguenay spastic ataxia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Spastic ataxia +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charlevoix-Saguenay spastic ataxia | |
| | | Insertion (frameshift variant) | Charlevoix-Saguenay spastic ataxia | |
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