| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (splice donor variant) | Progressive familial intrahepatic cholestasis type 3 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 3 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cholestasis, intrahepatic, of pregnancy, 3 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Progressive familial intrahepatic cholestasis type 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 3 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Progressive familial intrahepatic cholestasis type 3 | |
| | | Single nucleotide variant (missense variant) | Cholestasis, intrahepatic, of pregnancy, 3 +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 3 +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene