| | LOC125048431, LOC125048432 +3280 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130056152, LOC130056153 +503 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | 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 | |
| | | 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) | Collapse (finding) +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Deletion | Loeys-Dietz syndrome 4 | |
| | | Deletion | Rienhoff syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Rienhoff syndrome +1 more | |
| | | Deletion (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Arrhythmogenic right ventricular cardiomyopathy | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (stop lost) | Rienhoff syndrome | |
| | | Single nucleotide variant (missense variant) | Rienhoff syndrome | |
| | | Single nucleotide variant (synonymous variant) | Rienhoff syndrome | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Rienhoff syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Rienhoff syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (nonsense) | Rienhoff syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Microsatellite (inframe_deletion) | Rienhoff syndrome | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Rienhoff syndrome | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (nonsense) | Rienhoff syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Rienhoff syndrome | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | TGFB3-related disorder | |
| | | Single nucleotide variant (missense variant) | Rienhoff syndrome | |
| | | Duplication (frameshift variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Rienhoff syndrome | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Rienhoff syndrome | |
| | | Single nucleotide variant (missense variant) | Rienhoff syndrome | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant) | Rienhoff syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Rienhoff syndrome | |
| | | Single nucleotide variant (missense variant) | Rienhoff syndrome | |
| | | Single nucleotide variant (synonymous variant) | Rienhoff syndrome | |
| | | Single nucleotide variant (missense variant) | Arrhythmogenic right ventricular dysplasia 1 +3 more | |
| | | Single nucleotide variant (missense variant) | TGFB3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Rienhoff syndrome | |
| | | Single nucleotide variant (missense variant) | Rienhoff syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Rienhoff syndrome | |
| | | Single nucleotide variant (synonymous variant) | Rienhoff syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (synonymous variant) | Rienhoff syndrome | |
| | | Single nucleotide variant (missense variant) | Rienhoff syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Rienhoff syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Rienhoff syndrome | |
| | | Single nucleotide variant (synonymous variant) | Rienhoff syndrome | |
| | | Single nucleotide variant (missense variant) | Rienhoff syndrome | |
| | | Single nucleotide variant (synonymous variant) | Rienhoff syndrome | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Deletion (frameshift variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Rienhoff syndrome | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Rienhoff syndrome | |
| | | Single nucleotide variant (missense variant) | Rienhoff syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Rienhoff syndrome | |
| | | Single nucleotide variant (intron variant) | Rienhoff syndrome | |
| | | Single nucleotide variant (intron variant) | Rienhoff syndrome | |
| | | Single nucleotide variant (intron variant) | Rienhoff syndrome | |
| | | Single nucleotide variant (intron variant) | Rienhoff syndrome | |
| | | Single nucleotide variant (intron variant) | Rienhoff syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Rienhoff syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |