| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Congenital bile acid synthesis defect 1 | |
| | | Single nucleotide variant (splice donor variant) | Congenital bile acid synthesis defect 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital bile acid synthesis defect 1 | |
Click to view in NCBI Gene