| | LOC126862060, LOC126862061 +3282 more | Copy number gain | See cases | |
| | LOC125048449, LOC125048450 +3277 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130056651, LOC130056652 +1423 more | 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 | |
| | | 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 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +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) | Rienhoff syndrome +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) | not provided +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) | Rienhoff syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Rienhoff syndrome | |
| | | Single nucleotide variant (missense variant) | Rienhoff syndrome | |
| | | Single nucleotide variant (synonymous variant) | Rienhoff syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Rienhoff syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Rienhoff syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Rienhoff syndrome +1 more | |
| | | 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) | not provided +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) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +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) | Arrhythmogenic right ventricular dysplasia 1 +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 +1 more | |
| | | 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 | |