| | ABCB4, CROT (A577G +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ABCB4, CROT (A328G +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ABCB4, CROT (V554A +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ABCB4, CROT (H229L +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ABCB4, CROT (S473F +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | | Deletion (splice donor variant) | Progressive familial intrahepatic cholestasis type 3 | |
| | | Single nucleotide variant (intron variant) | Cholestasis, intrahepatic, of pregnancy, 3 | |
| | ABCB4, CROT (Y591C +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ABCB4, CROT (G534R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ABCB4, CROT (P528A +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ABCB4, CROT (M469T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ABCB4, CROT (E402K +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Cholestasis, intrahepatic, of pregnancy, 3 | |
| | | Single nucleotide variant (missense variant) | Cholestasis, intrahepatic, of pregnancy, 3 | |
| | | Single nucleotide variant (missense variant) | Cholestasis, intrahepatic, of pregnancy, 3 | |
| | | Single nucleotide variant (missense variant) | Cholestasis, intrahepatic, of pregnancy, 3 | |
| | | Single nucleotide variant (nonsense) | Cholestasis, intrahepatic, of pregnancy, 3 | |
| | | Single nucleotide variant (missense variant) | Cholestasis, intrahepatic, of pregnancy, 3 | |
| | | Single nucleotide variant (missense variant) | Cholestasis, intrahepatic, of pregnancy, 3 | |
| | | Single nucleotide variant (stop lost) | Cholestasis, intrahepatic, of pregnancy, 3 | |
| | ABCB4, LOC129998756 (P14L) | Single nucleotide variant (missense variant) | ABCB4-related disorder | |
| | | Single nucleotide variant (synonymous variant) | ABCB4-related disorder | |
| | | Single nucleotide variant (missense variant) | Low phospholipid associated cholelithiasis +1 more | |
| | ABCB4, LOC129998756 (G19D) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Progressive familial intrahepatic cholestasis type 3 | |
| | | Single nucleotide variant (intron variant) | Progressive familial intrahepatic cholestasis type 3 | |
| | | Deletion (frameshift variant) | Progressive familial intrahepatic cholestasis type 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive familial intrahepatic cholestasis type 3 | |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 3 | |
| | | Deletion (frameshift variant) | Progressive familial intrahepatic cholestasis type 3 | |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 3 | |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 3 | |
| | | Deletion (frameshift variant) | Progressive familial intrahepatic cholestasis type 3 | |
| | | Single nucleotide variant (nonsense) | Progressive familial intrahepatic cholestasis type 3 | |
| | | Deletion (frameshift variant) | Progressive familial intrahepatic cholestasis type 3 | |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 3 | |
| | | Deletion (frameshift variant) | Progressive familial intrahepatic cholestasis type 3 | |
| | | Deletion (frameshift variant) | Progressive familial intrahepatic cholestasis type 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive familial intrahepatic cholestasis type 3 | |
| | ABCB4, CROT (E516G +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ABCB4, CROT (L540F +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ABCB4, LOC129998756 (A11G) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ABCB4, CROT (H253L +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ABCB4, CROT (R280Q +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ABCB4, CROT (D371N +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | ABCB4, CROT (L414I +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ABCB4, CROT (R479H +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ABCB4, CROT (I371T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ABCB4, CROT (A266T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ABCB4, CROT (V460L +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ABCB4, CROT (V546F +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ABCB4, CROT (Y341H +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ABCB4, CROT (D287A +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ABCB4, CROT (E481D +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ABCB4, CROT (I346S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ABCB4, CROT (S272N +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ABCB4, CROT (P214T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ABCB4, CROT (G307D +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ABCB4, CROT (E506G +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Microsatellite (intron variant) | Schizophrenia | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cholestasis, intrahepatic, of pregnancy, 3 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Cholestasis, intrahepatic, of pregnancy, 3 +2 more | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Cholestasis, intrahepatic, of pregnancy, 3 +2 more | |