| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (synonymous variant) | 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 | |
Click to view in NCBI Gene