| | LOC130001537, LOC130001538 +3785 more | Copy number gain | See cases | |
| | LOC130002976, LOC130002977 +3784 more | Copy number gain | See cases | |
| | LOC130001468, LOC130001469 +3785 more | Copy number gain | See cases | |
| | DNAJB5, DNAJB5-DT +3785 more | Copy number gain | See cases | |
| | LOC114827838, LOC116186936 +3785 more | Copy number gain | See cases | |
| | LOC124252641, LOC124252642 +3785 more | Copy number gain | See cases | |
| | LOC114022701, LOC114022702 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110120726, LOC110120727 +3785 more | Copy number gain | See cases | |
| | LOC130002527, LOC130002528 +1272 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130003109, LOC130003110 +1210 more | Copy number gain | See cases | |
| | LOC130002885, LOC130002886 +789 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110121282, LOC111365185 +530 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130002964, LOC130002965 +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 | |
| | LOC130003113, LOC130003114 +324 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130003070, LOC130003071 +283 more | 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 disorder | |
| | | 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) | Familial thoracic aortic aneurysm and aortic dissection +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) | Familial thoracic aortic aneurysm and aortic dissection +5 more | |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 | |
| | | Single nucleotide variant (missense variant) | not provided +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) | Familial thoracic aortic aneurysm and aortic dissection +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | 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 disorder +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Adams-Oliver syndrome 5 | |
| | | Single nucleotide variant (missense 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 +3 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (synonymous variant) | Adams-Oliver syndrome 5 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (synonymous variant) | Aortic valve disease 1 +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) | not provided +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) | not provided +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) | Aortic valve disease 1 +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) | Familial thoracic aortic aneurysm and aortic dissection +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | NOTCH1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense 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 disorder | |
| | | Single nucleotide variant (synonymous variant) | Adams-Oliver syndrome 5 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +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 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |