| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | PLA2G6-associated neurodegeneration +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Infantile neuroaxonal dystrophy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
Click to view in NCBI Gene