| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Heimler syndrome 2 +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Peroxisome biogenesis disorder 4A (Zellweger) | |
Click to view in NCBI Gene