| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Benign recurrent intrahepatic cholestasis type 2 +2 more | |
| | ABCB11, LOC126806400 (R948C) | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | LOC126806400, ABCB11 (R928Q) | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Progressive familial intrahepatic cholestasis type 2 +2 more | |
| | | Single nucleotide variant (missense variant) | Benign recurrent intrahepatic cholestasis type 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 2 +3 more | |
| | | Single nucleotide variant (intron variant) | Benign recurrent intrahepatic cholestasis type 2 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Benign recurrent intrahepatic cholestasis type 2 +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 2 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Benign recurrent intrahepatic cholestasis type 2 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Benign recurrent intrahepatic cholestasis type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Benign recurrent intrahepatic cholestasis type 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Progressive familial intrahepatic cholestasis type 2 +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (intron variant) | not specified +3 more | |