| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Zellweger spectrum disorders +5 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 14 +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice acceptor variant) | Hereditary spastic paraplegia 7 +10 more | |
| | | Single nucleotide variant (nonsense) | PLA2G6-related condition +11 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene