| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 5A +5 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice acceptor variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Neurodegeneration with brain iron accumulation 4 +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene