| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Congenital bile acid synthesis defect 2 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital bile acid synthesis defect 2 | |
| | | Copy number gain | not provided | |
Click to view in NCBI Gene