| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 1A (Zellweger) +10 more | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 1A (Zellweger) +5 more | |
| | | Duplication (frameshift variant) | Peroxisome biogenesis disorder 1A (Zellweger) +9 more | |
Click to view in NCBI Gene