| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CYP2U1, LOC129992929 (K163M) | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia +2 more | |
Click to view in NCBI Gene