| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 10 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Myoclonus, intractable, neonatal +5 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene