| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Congenital bile acid synthesis defect 1 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital bile acid synthesis defect 1 | |
| | | Single nucleotide variant (missense variant) | Congenital bile acid synthesis defect 1 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital bile acid synthesis defect 1 | |
| | | Single nucleotide variant (intron variant) | not specified | |
Click to view in NCBI Gene