| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Dysarthria +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 39 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Dysarthria +2 more | |
| | | Single nucleotide variant (missense variant) | PNPLA6-related disorder +8 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene