| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Spastic paraplegia +2 more | |
| | | Single nucleotide variant (nonsense) | Hereditary spastic paraplegia 5A +3 more | |
| | | Single nucleotide variant (missense variant) | Congenital bile acid synthesis defect 3 +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene