| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Benign recurrent intrahepatic cholestasis type 1 +3 more | |
| | | Indel (frameshift variant) | Familial intrahepatic cholestasis type 1 +2 more | |
Click to view in NCBI Gene