| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Low phospholipid associated cholelithiasis | |
| | | Single nucleotide variant (nonsense) | Progressive familial intrahepatic cholestasis type 3 +2 more | |
| | | Single nucleotide variant (nonsense) | Progressive familial intrahepatic cholestasis type 3 +2 more | |
Click to view in NCBI Gene