| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Infantile-onset ascending hereditary spastic paralysis | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Amyotrophic lateral sclerosis type 2, juvenile +1 more | |
| | | Deletion (nonsense +1 more) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (splice acceptor variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (missense variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (nonsense) | Amyotrophic lateral sclerosis type 2, juvenile +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Infantile-onset ascending hereditary spastic paralysis | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Infantile-onset ascending hereditary spastic paralysis | |
Click to view in NCBI Gene