| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GATAD1, PEX1 (E1134A +2 more) | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 1B +2 more | |
| | GATAD1, PEX1 (S1017I +2 more) | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 1B +2 more | |
| | | Single nucleotide variant (synonymous variant) | Peroxisome biogenesis disorder 1A (Zellweger) +3 more | GConflicting classifications of pathogenicity |
| | GATAD1, PEX1 (R949W +2 more) | Single nucleotide variant (missense variant) | Zellweger spectrum disorders +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene