| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Congenital bile acid synthesis defect 2 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital bile acid synthesis defect 2 | |
| | | Deletion | Congenital bile acid synthesis defect 2 | |
Click to view in NCBI Gene