| | | Single nucleotide variant (splice donor variant) | Familial aortopathy | |
| | | Deletion (frameshift variant) | Familial aortopathy | |
| | | Deletion (splice acceptor variant +1 more) | Familial aortopathy | |
| | | Deletion (splice acceptor variant +1 more) | Familial aortopathy | |
| | | Single nucleotide variant (nonsense) | Familial aortopathy | |
| | | Deletion | Familial aortopathy | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | |
| | | Duplication (frameshift variant) | Familial aortopathy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Familial aortopathy | |
| | | Single nucleotide variant (missense variant) | Familial aortopathy | |
| | MYH11, NDE1 (R1609* +1 more) | Single nucleotide variant (nonsense +1 more) | Familial thoracic aortic aneurysm and aortic dissection +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Familial thoracic aortic aneurysm and aortic dissection +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Familial aortopathy | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial aortopathy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | TGFB2-related condition +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial aortopathy +2 more | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Familial aortopathy +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial aortopathy +1 more | |
| | | Single nucleotide variant (intron variant) | Familial aortopathy | |
| | | Single nucleotide variant (intron variant) | Lissencephaly, Recessive +6 more | |
| | | Deletion (intron variant) | Familial aortopathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +5 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Connective tissue disorder +5 more | |
| | | Single nucleotide variant (intron variant) | Connective tissue disorder +4 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +5 more | |
| | | Single nucleotide variant (synonymous variant) | Familial aortopathy +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Familial aortopathy | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | Aortic aneurysm, familial thoracic 6 +2 more | |