| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Tip-toe gait | |
| | | Single nucleotide variant (nonsense) | Juvenile primary lateral sclerosis +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Infantile-onset ascending hereditary spastic paralysis +5 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene