| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 5A (Zellweger) +1 more | |
| | | Deletion (frameshift variant) | Peroxisome biogenesis disorder 5A (Zellweger) +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene