| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC129998796, PEX1 (V19fs) | Deletion (frameshift variant +1 more) | Zellweger spectrum disorders +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Peroxisome biogenesis disorder type 1A +4 more | |
Click to view in NCBI Gene