| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Hereditary spastic paraplegia 7 +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice acceptor variant) | Hereditary spastic paraplegia 7 +10 more | |
Click to view in NCBI Gene