| | | Single nucleotide variant (intron variant) | not specified | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Neoplasm | |
| | | Single nucleotide variant (nonsense) | Neoplasm | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Alagille syndrome due to a NOTCH2 point mutation | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a NOTCH2 point mutation | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication | Hajdu-Cheney syndrome | |
| | | Duplication | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Alagille syndrome due to a NOTCH2 point mutation | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a NOTCH2 point mutation | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | Hajdu-Cheney syndrome | |
| | | Copy number gain | not specified | |
| | | Deletion (frameshift variant) | Alagille syndrome due to a NOTCH2 point mutation +1 more | |
| | | Single nucleotide variant (nonsense) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | NOTCH2-related disorder | |
| | | Single nucleotide variant (missense variant) | NOTCH2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | NOTCH2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | NOTCH2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | NOTCH2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | NOTCH2-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | NOTCH2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | NOTCH2-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | NOTCH2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | NOTCH2-related disorder | |
| | | Single nucleotide variant (missense variant) | NOTCH2-related disorder | |
| | | Single nucleotide variant (nonsense) | NOTCH2-related disorder | |
| | | Single nucleotide variant (missense variant) | NOTCH2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | NOTCH2-related disorder | |
| | | Single nucleotide variant (intron variant) | NOTCH2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | NOTCH2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | NOTCH2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | NOTCH2-related disorder | |
| | | Single nucleotide variant (missense variant) | NOTCH2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | NOTCH2-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | NOTCH2-related disorder | |
| | | Single nucleotide variant (missense variant) | NOTCH2-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant) | NOTCH2-related disorder | |
| | | Single nucleotide variant (missense variant) | NOTCH2-related disorder | |
| | | Single nucleotide variant (missense variant) | NOTCH2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | NOTCH2-related disorder | |
| | | Single nucleotide variant (missense variant) | NOTCH2-related disorder | |
| | | Single nucleotide variant (intron variant) | NOTCH2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | NOTCH2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | NOTCH2-related disorder | |
| | | Single nucleotide variant (missense variant) | NOTCH2-related disorder | |
| | | Single nucleotide variant (missense variant) | NOTCH2-related disorder | |
| | | Single nucleotide variant (intron variant) | Hajdu-Cheney syndrome | |
| | | Single nucleotide variant (missense variant) | Hajdu-Cheney syndrome +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) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | 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 | |