| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Duplication | PRPH2-related disorder | |
| | | Deletion | Peroxisome biogenesis disorder | |
Click to view in NCBI Gene