| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Acute intermittent porphyria +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Acute intermittent porphyria | |
| | | Single nucleotide variant (missense variant) | Acute intermittent porphyria +1 more | GPathogenic/Likely pathogenic |
| | | Duplication | Distal trisomy 11q | |
Click to view in NCBI Gene