| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cholestasis, intrahepatic, of pregnancy, 3 +3 more | |
| | | Single nucleotide variant (missense variant) | Low phospholipid associated cholelithiasis +4 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Progressive familial intrahepatic cholestasis type 3 +2 more | |
Click to view in NCBI Gene