| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GATAD1, PEX1 (Q1192* +2 more) | Single nucleotide variant (nonsense) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Peroxisome biogenesis disorder 1A (Zellweger) +8 more | |
Click to view in NCBI Gene