| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neurodegeneration with brain iron accumulation 4 | |
| | | Deletion (frameshift variant +1 more) | Neurodegeneration with brain iron accumulation 4 +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice acceptor variant) | Hereditary spastic paraplegia 43 +1 more | GConflicting classifications of pathogenicity |
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