| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (nonsense) | Hereditary spastic paraplegia 50 | |
| | | Single nucleotide variant (nonsense) | Hereditary spastic paraplegia 50 +1 more | |
| | | Single nucleotide variant (splice donor variant) | Hereditary spastic paraplegia 50 +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene