| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Peroxisome biogenesis disorder 2B +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Rhizomelic chondrodysplasia punctata type 5 +2 more | |
| | | Single nucleotide variant (missense variant) | Peroxisome biogenesis disorder 2B +2 more | |
Click to view in NCBI Gene