| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neurodegeneration with brain iron accumulation 2B +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Infantile neuroaxonal dystrophy | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene