| | | Single nucleotide variant (missense variant) | Cholestasis, progressive familial intrahepatic, 4 | |
| | | Single nucleotide variant (nonsense) | Cholestasis, progressive familial intrahepatic, 4 | |
| | | Deletion (splice donor variant) | Cholestasis, progressive familial intrahepatic, 4 | |
| | | Single nucleotide variant (missense variant) | Cholestasis, progressive familial intrahepatic, 4 | |
| | | Single nucleotide variant (nonsense) | Cholestasis, progressive familial intrahepatic, 4 | |
| | | Single nucleotide variant (nonsense) | Cholestasis, progressive familial intrahepatic, 4 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Cholestasis, progressive familial intrahepatic, 4 | |
| | | Single nucleotide variant (nonsense) | Cholestasis, progressive familial intrahepatic, 4 | |
| | | Single nucleotide variant (missense variant) | Cholestasis, progressive familial intrahepatic, 4 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Microsatellite (inframe_deletion) | Cholestasis, progressive familial intrahepatic, 4 | |
| | | Duplication (frameshift variant) | Cholestasis, progressive familial intrahepatic, 4 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (intron variant) | Cholestasis, progressive familial intrahepatic, 4 +2 more | |
| | | Single nucleotide variant (intron variant) | Hypercholanemia, familial 1 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Cholestasis, progressive familial intrahepatic, 4 | |
| | | Single nucleotide variant (nonsense) | Cholestasis, progressive familial intrahepatic, 4 +1 more | |
| | | Deletion (nonsense) | Cholestasis, progressive familial intrahepatic, 4 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Cholestasis, progressive familial intrahepatic, 4 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Cholestasis, progressive familial intrahepatic, 4 | |
| | | Single nucleotide variant (nonsense) | Cholestasis, progressive familial intrahepatic, 4 | |
| | | Single nucleotide variant (nonsense) | Cholestasis, progressive familial intrahepatic, 4 | |
| | | Single nucleotide variant (splice acceptor variant) | Cholestasis, progressive familial intrahepatic, 4 | |
| | | Single nucleotide variant (intron variant) | Cholestasis, progressive familial intrahepatic, 4 | |
| | | Single nucleotide variant (nonsense) | Cholestasis, progressive familial intrahepatic, 4 | |
| | | Single nucleotide variant (nonsense +1 more) | Cholestasis, progressive familial intrahepatic, 4 | |
| | | Single nucleotide variant (missense variant) | Melnick-Fraser syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Cholestasis, progressive familial intrahepatic, 4 | |
| | | Single nucleotide variant (missense variant) | Cholestasis, progressive familial intrahepatic, 4 | |
| | | Single nucleotide variant (missense variant) | Cholestasis, progressive familial intrahepatic, 4 | |
| | | Single nucleotide variant (nonsense) | Cholestasis, progressive familial intrahepatic, 4 | |
| | | Single nucleotide variant (nonsense) | Cholestasis, progressive familial intrahepatic, 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Hypercholanemia, familial 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Cholestasis, progressive familial intrahepatic, 4 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (missense variant) | Cholestasis, progressive familial intrahepatic, 4 +2 more | |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (splice donor variant) | TJP2-related disorder +3 more | |
| | | Microsatellite (frameshift variant) | Cholestasis, progressive familial intrahepatic, 4 | |
| | | Duplication | Cholestasis, progressive familial intrahepatic, 4 | |
| | | Single nucleotide variant (missense variant) | Cholestasis, progressive familial intrahepatic, 4 +1 more | |
| | | Deletion (frameshift variant) | Cholestasis, progressive familial intrahepatic, 4 | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Duplication (frameshift variant) | Cholestasis, progressive familial intrahepatic, 4 | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Cholestasis, progressive familial intrahepatic, 4 | |
| | | Deletion | Cholestasis, progressive familial intrahepatic, 4 | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | Hypercholanemia, familial 1 +2 more | |
| | | Deletion (inframe_deletion) | Nonsyndromic Hearing Loss, Dominant +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hypercholanemia, familial 1 +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Deletion (frameshift variant) | Hypercholanemia, familial 1 | |
| | | Deletion (frameshift variant) | Cholestasis, progressive familial intrahepatic, 4 | |
| | | Deletion (frameshift variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Cholestasis, progressive familial intrahepatic, 4 +3 more | |