| | LOC126860768, LOC126860769 +3785 more | Copy number gain | See cases | |
| | LOC124310660, LOC124310661 +3784 more | Copy number gain | See cases | |
| | LOC111413024, LOC111413033 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC116216098, LOC116216099 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860765, LOC126860766 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130003073, LOC130003074 +1268 more | Copy number gain | See cases | |
| | LOC130002603, LOC130002604 +1210 more | Copy number gain | See cases | |
| | MIR3621, MIR3689A +789 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC112637025, LOC112639999 +656 more | Copy number gain | See cases | |
| | LOC130003086, LOC130003087 +530 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130003003, LOC130003004 +417 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130003068, LOC130003069 +392 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126860789, LOC126860790 +324 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | C9orf163, LOC126860794 +8 more | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | LOC124375244, LOC126860794 +4 more | Duplication | Adams-Oliver syndrome 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | NOTCH1-related condition | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Adams-Oliver syndrome 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Adams-Oliver syndrome 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 | |
| | | Single nucleotide variant (missense variant) | NOTCH1-related condition +5 more | |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | Adams-Oliver syndrome 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Adams-Oliver syndrome 5 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Adams-Oliver syndrome 5 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | NOTCH1-related condition +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Adams-Oliver syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Adams-Oliver syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Adams-Oliver syndrome 5 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant) | Adams-Oliver syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Adams-Oliver syndrome 5 +3 more | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 1 +3 more | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Adams-Oliver syndrome 5 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 +3 more | |
| | | Deletion (frameshift variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Adams-Oliver syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Adams-Oliver syndrome 5 +3 more | |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Adams-Oliver syndrome 5 +4 more | |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 | |
| | | Single nucleotide variant (nonsense) | Adams-Oliver syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Adams-Oliver syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | NOTCH1-related condition | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | NOTCH1-related condition | |
| | | Single nucleotide variant (synonymous variant) | Adams-Oliver syndrome 5 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Adams-Oliver syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Adams-Oliver syndrome 5 +2 more | |
| | | Single nucleotide variant (missense variant) | NOTCH1-related condition | |