| | CCDC146, CCDC201 +4735 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | ABCB4, CROT (P214T +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ABCB4, CROT (H253L +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CROT, ABCB4 (A266T +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ABCB4, CROT (R280Q +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CROT, ABCB4 (D287A +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CROT, ABCB4 (S272N +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CROT, ABCB4 (G307D +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | PTTG1IP2, RUNDC3B +78 more | Copy number loss | See cases | |
| | ABCB4, CROT (Y341H +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ABCB4, CROT (D371N +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CROT, ABCB4 (I346S +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | CROT, ABCB4 (I371T +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CROT, ABCB4 (L414I +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CROT, ABCB4 (R479H +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CROT, ABCB4 (E481D +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ABCB4, CROT (V460L +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CROT, ABCB4 (E506G +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ABCB4, CROT (L540F +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ABCB4, CROT (E516G +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CROT, ABCB4 (V546F +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (stop lost) | Cholestasis, intrahepatic, of pregnancy, 3 | |
| | | Single nucleotide variant (stop lost) | Progressive familial intrahepatic cholestasis type 3 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Progressive familial intrahepatic cholestasis type 3 | |
| | | Single nucleotide variant (synonymous variant) | ABCB4-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | ABCB4-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | ABCB4-related condition | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 3 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Cholestasis, intrahepatic, of pregnancy, 3 +1 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 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Progressive familial intrahepatic cholestasis type 3 +3 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 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 3 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (nonsense) | Cholestasis, intrahepatic, of pregnancy, 3 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | ABCB4-related condition | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Cholestasis, intrahepatic, of pregnancy, 3 | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | ABCB4-related condition | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Cholestasis, intrahepatic, of pregnancy, 3 +3 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided +1 more | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | ABCB4-related condition | |
| | | Single nucleotide variant (splice donor variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | ABCB4-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 3 +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | Cholestasis, intrahepatic, of pregnancy, 3 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |