| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | ABCB11, LOC126806400 (G877R) | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | ABCB11, LOC126806400 (G877R) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (intron variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (nonsense) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 2 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (missense variant) | Benign recurrent intrahepatic cholestasis type 2 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Progressive familial intrahepatic cholestasis type 2 | |
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