| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Congenital contractural arachnodactyly +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly +2 more | |
| | | Single nucleotide variant (missense variant) | Macular degeneration, early-onset +3 more | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Congenital contractural arachnodactyly +4 more | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not specified +4 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +7 more | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly +3 more | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | | Single nucleotide variant (missense variant) | Connective tissue disorder +6 more | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Connective tissue disorder +5 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +7 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Macular degeneration, early-onset +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection +6 more | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Macular degeneration, early-onset +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +4 more | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly +1 more | GConflicting classifications of pathogenicity |