| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (inframe_deletion +1 more) | Peroxisome biogenesis disorder 8B | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 8A (Zellweger) +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 8A (Zellweger) +5 more | |
Click to view in NCBI Gene