| | | Single nucleotide variant (intron variant) | Low phospholipid associated cholelithiasis | |
| | | Single nucleotide variant (missense variant) | Low phospholipid associated cholelithiasis +1 more | |
| | | Single nucleotide variant (nonsense) | Low phospholipid associated cholelithiasis | |
| | | Single nucleotide variant (missense variant) | Cholestasis, intrahepatic, of pregnancy, 3 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Low phospholipid associated cholelithiasis | |
| | | Single nucleotide variant (missense variant) | Low phospholipid associated cholelithiasis | |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis +2 more | |
| | | Single nucleotide variant (missense variant) | Cholestasis, intrahepatic, of pregnancy, 3 +3 more | |
| | | Single nucleotide variant (nonsense) | Progressive familial intrahepatic cholestasis type 1 +2 more | |
| | | Single nucleotide variant (nonsense) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 3 +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Cholestasis, intrahepatic, of pregnancy, 3 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Progressive familial intrahepatic cholestasis type 1 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Low phospholipid associated cholelithiasis +5 more | GConflicting classifications of pathogenicity |
| | | Indel (frameshift variant) | Low phospholipid associated cholelithiasis +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Low phospholipid associated cholelithiasis +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Low phospholipid associated cholelithiasis +1 more | GPathogenic/Likely pathogenic |