| | | Deletion (nonsense) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Deletion (frameshift variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Deletion (frameshift variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (nonsense) | Alagille syndrome due to a JAG1 point mutation | |
| | | Deletion (frameshift variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (intron variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (splice donor variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (nonsense) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (nonsense) | Alagille syndrome due to a JAG1 point mutation | |
| | | Deletion (frameshift variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Deletion | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant | Alagille syndrome due to a JAG1 point mutation | |
| | | Deletion | Alagille syndrome due to a JAG1 point mutation | |
| | | Deletion | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (splice acceptor variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (splice acceptor variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Alagille syndrome due to a JAG1 point mutation | |
| | | Translocation | Alagille syndrome due to a JAG1 point mutation | |
| | | Duplication (frameshift variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (nonsense) | Alagille syndrome due to a JAG1 point mutation | |
| | | Deletion (frameshift variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Indel (frameshift variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Deletion (frameshift variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Deletion (inframe_indel) | Alagille syndrome due to a JAG1 point mutation | |
| | | Deletion (frameshift variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Deletion (frameshift variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Duplication (frameshift variant) | Hepatic Ductular Hypoplasia | |
| | | Single nucleotide variant (missense variant) | Hepatic Ductular Hypoplasia | |
| | | Single nucleotide variant (nonsense) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Deletion | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (frameshift variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (missense variant) | Tetralogy of Fallot | |
| | | Single nucleotide variant (missense variant) | Tetralogy of Fallot | |
| | | Single nucleotide variant (missense variant) | Tetralogy of Fallot | |
| | | Deletion (frameshift variant) | Tetralogy of Fallot | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion (frameshift variant) | not provided | |
| | | Insertion (frameshift variant) | Atypical coarctation of aorta | |
| | | Single nucleotide variant (missense variant) | Atypical coarctation of aorta | |
| | | Deletion (frameshift variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Indel (frameshift variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (intron variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a JAG1 point mutation | |
| | | Microsatellite (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Deletion (intron variant) | not specified | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant | Alagille syndrome due to a JAG1 point mutation | |