| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 4 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Male infertility due to gonadal dysgenesis or sperm disorder +8 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Spasticity +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Roussy-Lévy syndrome +3 more | |
Click to view in NCBI Gene