| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Deletion (nonsense +1 more) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (nonsense) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (splice acceptor variant) | Juvenile primary lateral sclerosis | |
| | | Deletion (frameshift variant +1 more) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (nonsense) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (splice acceptor variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Deletion (genic downstream transcript variant +1 more) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Single nucleotide variant (missense variant) | Juvenile primary lateral sclerosis | |
| | | Single nucleotide variant (splice acceptor variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Microsatellite (genic downstream transcript variant +1 more) | Juvenile primary lateral sclerosis | |
| | | Deletion (frameshift variant) | Infantile-onset ascending hereditary spastic paralysis | |
| | | Deletion (frameshift variant) | Juvenile primary lateral sclerosis | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Amyotrophic lateral sclerosis type 2, juvenile | |
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