| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (nonsense) | not provided +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | PLA2G6-related disorder +11 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Neurodegeneration with brain iron accumulation 2B | |
Click to view in NCBI Gene