| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Hereditary spastic paraplegia 7 +3 more | |
| | | Deletion (splice acceptor variant) | Hereditary spastic paraplegia 7 +10 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +10 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene