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