| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Benign recurrent intrahepatic cholestasis type 2 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Benign recurrent intrahepatic cholestasis type 2 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | ABCB11, LOC126806400 (I960F) | Single nucleotide variant (missense variant) | not provided | |
| | ABCB11, LOC126806400 (S874P) | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 2 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis +2 more | |
| | | Microsatellite (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 2 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Benign recurrent intrahepatic cholestasis type 2 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | GConflicting classifications of pathogenicity |