| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Peroxisome biogenesis disorder type 3B +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Peroxisome biogenesis disorder type 3B +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene