| 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) | Juvenile amyotrophic lateral sclerosis +1 more | |
| | | Indel (frameshift variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Deletion (splice acceptor variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (splice acceptor variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (splice donor variant) | Amyotrophic lateral sclerosis type 2, juvenile +1 more | |
| | | Single nucleotide variant (splice donor variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (nonsense) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Deletion (frameshift variant) | Infantile-onset ascending hereditary spastic paralysis | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Deletion (inframe_deletion) | Infantile-onset ascending hereditary spastic paralysis | |
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