| | | Deletion (frameshift variant) | Hajdu-Cheney syndrome | |
| | | Deletion (frameshift variant) | Alagille syndrome due to a NOTCH2 point mutation +1 more | |
| | | Single nucleotide variant (nonsense) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (intron variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | NOTCH2-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (intron variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (nonsense) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (intron variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (intron variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (intron variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hajdu-Cheney syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (intron variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (intron variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Deletion (intron variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (intron variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (intron variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (intron variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Deletion (intron variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (intron variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (intron variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (intron variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Indel (intron variant) | Hajdu-Cheney syndrome | |
| | | Deletion (intron variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Microsatellite (inframe_deletion) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (intron variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (intron variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Deletion (intron variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome | |
| | | Deletion (intron variant) | Hajdu-Cheney syndrome | |