| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Duplication (splice donor variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (synonymous variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Duplication (frameshift variant) | Progressive familial intrahepatic cholestasis type 2 | GPathogenic/Likely pathogenic |
| | | Indel (frameshift variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (nonsense) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Insertion (frameshift 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 | |
| | | Indel (missense variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | ABCB11, LOC126806400 (S901R) | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (synonymous variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (missense 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 | |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (intron variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (intron variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | ABCB11, LOC126806400 (G877R) | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (intron variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Deletion (inframe_deletion) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (splice acceptor variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (splice donor variant) | Benign recurrent intrahepatic cholestasis type 2 +2 more | |
| | | Deletion (frameshift variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (nonsense) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Progressive familial intrahepatic cholestasis type 2 +2 more | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 2 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Progressive familial intrahepatic cholestasis type 2 +2 more | |
| | | Single nucleotide variant (intron variant) | Progressive familial intrahepatic cholestasis type 2 +2 more | |
| | | Single nucleotide variant (intron variant) | Progressive familial intrahepatic cholestasis type 2 +2 more | |
| | | Single nucleotide variant (intron variant) | Progressive familial intrahepatic cholestasis type 2 +2 more | |
| | | Single nucleotide variant (intron variant) | Progressive familial intrahepatic cholestasis type 2 +2 more | |
| | | Single nucleotide variant (intron variant) | Progressive familial intrahepatic cholestasis type 2 +2 more | |
| | | Single nucleotide variant (intron variant) | Progressive familial intrahepatic cholestasis type 2 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | ABCB11-related condition +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Benign recurrent intrahepatic cholestasis type 2 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (splice donor variant) | Familial intrahepatic cholestasis type 2 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Familial intrahepatic cholestasis type 2 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial intrahepatic cholestasis type 2 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial intrahepatic cholestasis type 2 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Familial intrahepatic cholestasis type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (missense variant) | ABCB11-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | ABCB11-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (5 prime UTR variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (5 prime UTR variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (missense variant) | ABCB11-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Progressive familial intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |