| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (inframe_insertion +1 more) | Congenital bile acid synthesis defect 2 | |
| | | Deletion (inframe_deletion) | Congenital bile acid synthesis defect 2 | |
| | | Deletion (frameshift variant +1 more) | Congenital bile acid synthesis defect 2 | |
| | | Deletion | Congenital bile acid synthesis defect 2 | |
Click to view in NCBI Gene