| | | Single nucleotide variant (intron variant) | Aortic valve disease 1 | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 1 | |
| | | Single nucleotide variant (nonsense) | Aortic valve disease 1 | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 1 | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 1 | |
| | | Single nucleotide variant (nonsense) | Aortic valve disease 1 +1 more | |
| | | Single nucleotide variant (nonsense) | Aortic valve disease 1 | |
| | | Single nucleotide variant (nonsense) | Aortic valve disease 1 | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 1 +1 more | |
| | | Duplication (splice donor variant) | Aortic valve disease 1 | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 1 | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 1 | |
| | | Single nucleotide variant (synonymous variant) | Adams-Oliver syndrome 5 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Deletion (splice acceptor variant +1 more) | Aortic valve disease 1 | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 +3 more | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Aortic valve disease 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 1 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | LOC130003020, NOTCH1 (A12V) | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Aortic valve disease 1 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 +3 more | |
| | LOC130003020, NOTCH1 (A18T) | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Adams-Oliver syndrome 5 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Adams-Oliver syndrome 5 +3 more | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 1 +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Adams-Oliver syndrome 5 +2 more | |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Adams-Oliver syndrome 5 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Adams-Oliver syndrome 5 +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Adams-Oliver syndrome 5 +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | | Single nucleotide variant (synonymous variant) | Adams-Oliver syndrome 5 +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Adams-Oliver syndrome 5 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Adams-Oliver syndrome 5 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +4 more | GConflicting classifications of pathogenicity; other |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 1 | |
| | | Single nucleotide variant (intron variant) | Aortic valve disease 1 +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | Aortic valve disease 1 | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 +2 more | GConflicting classifications of pathogenicity |
| | | Indel (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 +3 more | |
| | | Deletion (frameshift variant) | Aortic valve disease 1 | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 1 | |
| | | Insertion (frameshift variant) | Adams-Oliver syndrome 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 1 | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 1 | |
| | | Single nucleotide variant (synonymous variant) | NOTCH1-related condition +3 more | |