| | | Single nucleotide variant (missense variant) | Benign recurrent intrahepatic cholestasis type 1 | |
| | ATP8B1, ATP8B1-AS1 (Q1092* +1 more) | Single nucleotide variant (nonsense) | Benign recurrent intrahepatic cholestasis type 1 | |
| | ATP8B1, ATP8B1-AS1 (N908fs +1 more) | Deletion (frameshift variant) | Benign recurrent intrahepatic cholestasis type 1 | |
| | | Duplication (frameshift variant) | Benign recurrent intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (splice donor variant) | Benign recurrent intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (missense variant) | Benign recurrent intrahepatic cholestasis type 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Benign recurrent intrahepatic cholestasis type 1 | |
| | | Microsatellite (frameshift variant) | Benign recurrent intrahepatic cholestasis type 1 | |
| | ATP8B1, ATP8B1-AS1 (L1040S +1 more) | Single nucleotide variant (missense variant) | Benign recurrent intrahepatic cholestasis type 1 | |
| | | Deletion (frameshift variant +1 more) | Benign recurrent intrahepatic cholestasis type 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Benign recurrent intrahepatic cholestasis type 1 +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Benign recurrent intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (splice donor variant) | Benign recurrent intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (nonsense) | Benign recurrent intrahepatic cholestasis type 1 | |
| | | Deletion (frameshift variant) | Benign recurrent intrahepatic cholestasis type 1 | |
| | | Deletion (frameshift variant) | Benign recurrent intrahepatic cholestasis type 1 | |
| | | Microsatellite (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | ATP8B1, ATP8B1-AS1 (Y930* +1 more) | Single nucleotide variant (nonsense) | Benign recurrent intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (intron variant) | Benign recurrent intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (nonsense) | Benign recurrent intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | |
| | ATP8B1, ATP8B1-AS1 (R1114* +1 more) | Single nucleotide variant (nonsense) | Benign recurrent intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Deletion (frameshift variant) | Benign recurrent intrahepatic cholestasis type 1 | |
| | | Deletion (frameshift variant) | Benign recurrent intrahepatic cholestasis type 1 | |
| | ATP8B1, ATP8B1-AS1 (V888fs +1 more) | Duplication (frameshift variant) | Benign recurrent intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (splice donor variant) | Benign recurrent intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Benign recurrent intrahepatic cholestasis type 1 | |
| | | Duplication (frameshift variant) | Benign recurrent intrahepatic cholestasis type 1 | |
| | ATP8B1, ATP8B1-AS1 (E931K +1 more) | Single nucleotide variant (missense variant) | Benign recurrent intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Benign recurrent intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (splice donor variant) | Benign recurrent intrahepatic cholestasis type 1 | |
| | ATP8B1, ATP8B1-AS1 (S1044L +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | ATP8B1, ATP8B1-AS1 (F909fs +1 more) | Deletion (frameshift variant) | Benign recurrent intrahepatic cholestasis type 1 | |
| | ATP8B1, ATP8B1-AS1 (V947M +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | ATP8B1, ATP8B1-AS1 (F803S +1 more) | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Benign recurrent intrahepatic cholestasis type 1 | |
| | | Microsatellite (frameshift variant) | Benign recurrent intrahepatic cholestasis type 1 +2 more | GPathogenic/Likely pathogenic |
| | ATP8B1, ATP8B1-AS1 (A672P +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Benign recurrent intrahepatic cholestasis type 1 +1 more | |
| | ATP8B1, ATP8B1-AS1 (R884G +1 more) | Single nucleotide variant (missense variant) | Benign recurrent intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Benign recurrent intrahepatic cholestasis type 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | ATP8B1, ATP8B1-AS1 (R891* +1 more) | Single nucleotide variant (nonsense) | Progressive familial intrahepatic cholestasis type 1 +2 more | |
| | ATP8B1, ATP8B1-AS1 (T838M +1 more) | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 1 +2 more | |
| | | Single nucleotide variant (nonsense) | Benign recurrent intrahepatic cholestasis type 1 | GPathogenic/Likely pathogenic |
| | ATP8B1, ATP8B1-AS1 (R1014* +1 more) | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Benign recurrent intrahepatic cholestasis type 1 | |
| | | Indel (frameshift variant) | Familial intrahepatic cholestasis type 1 +2 more | |
| | | Microsatellite (inframe_deletion) | Benign recurrent intrahepatic cholestasis type 1 +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (nonsense) | Progressive familial intrahepatic cholestasis type 1 +2 more | |
| | | Duplication (frameshift variant) | not provided +1 more | |
| | ATP8B1, ATP8B1-AS1 (F1165Y +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | ATP8B1, ATP8B1-AS1 (V908I +1 more) | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | ATP8B1-related disorder +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
| | ATP8B1-AS1, ATP8B1 (R849Q +1 more) | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Single nucleotide variant (splice acceptor variant) | Benign recurrent intrahepatic cholestasis type 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Benign recurrent intrahepatic cholestasis type 1 +3 more | |
| | | Single nucleotide variant (nonsense) | Benign recurrent intrahepatic cholestasis type 1 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Benign recurrent intrahepatic cholestasis type 1 | |
| | | Deletion (inframe_deletion) | Benign recurrent intrahepatic cholestasis type 1 | |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | ATP8B1, ATP8B1-AS1 (G892R +1 more) | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |