| | | Single nucleotide variant (3 prime UTR variant) | Geleophysic dysplasia +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Acromicric dysplasia +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Stiff skin syndrome +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Acromicric dysplasia +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Acromicric dysplasia +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial thoracic aortic aneurysm and aortic dissection +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Acromicric dysplasia +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Acromicric dysplasia +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial thoracic aortic aneurysm and aortic dissection +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Familial thoracic aortic aneurysm and aortic dissection +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Acromicric dysplasia +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Acromicric dysplasia +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Stiff skin syndrome +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial thoracic aortic aneurysm and aortic dissection +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Stiff skin syndrome +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Acromicric dysplasia +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Acromicric dysplasia +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Acromicric dysplasia +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial thoracic aortic aneurysm and aortic dissection +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Stiff skin syndrome +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial thoracic aortic aneurysm and aortic dissection +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Acromicric dysplasia +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial thoracic aortic aneurysm and aortic dissection +7 more | |
| | | Duplication (3 prime UTR variant) | Acromicric dysplasia +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial thoracic aortic aneurysm and aortic dissection +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Acromicric dysplasia +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Acromicric dysplasia +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Acromicric dysplasia +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Familial thoracic aortic aneurysm and aortic dissection +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Acromicric dysplasia +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Acromicric dysplasia +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Marfan syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Familial thoracic aortic aneurysm and aortic dissection +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Familial thoracic aortic aneurysm and aortic dissection +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Acromicric dysplasia +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Marfan syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Acromicric dysplasia +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Acromicric dysplasia +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Acromicric dysplasia +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Acromicric dysplasia +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Stiff skin syndrome +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial thoracic aortic aneurysm and aortic dissection +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Marfan syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Familial thoracic aortic aneurysm and aortic dissection +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Familial thoracic aortic aneurysm and aortic dissection +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial thoracic aortic aneurysm and aortic dissection +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +7 more | |
| | | Duplication (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Stiff skin syndrome +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Acromicric dysplasia +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Acromicric dysplasia +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Acromicric dysplasia +6 more | GConflicting classifications of pathogenicity |
| | | Deletion (3 prime UTR variant) | Acromicric dysplasia +8 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Acromicric dysplasia +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Stiff skin syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Stiff skin syndrome +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Acromicric dysplasia +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Stiff skin syndrome +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Stiff skin syndrome +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Acromicric dysplasia +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Stiff skin syndrome +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Acromicric dysplasia +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Geleophysic dysplasia +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Acromicric dysplasia +10 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Deletion (3 prime UTR variant) | Acromicric dysplasia +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Stiff skin syndrome +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial thoracic aortic aneurysm and aortic dissection +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Stiff skin syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Duplication | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Deletion | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Deletion | Marfan syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Deletion (frameshift variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +1 more | |
| | | Deletion (frameshift variant) | Marfan syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |