| | | 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) | Stiff skin syndrome +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Stiff skin syndrome +5 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) | Weill-Marchesani syndrome +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) | Weill-Marchesani syndrome +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Stiff skin syndrome +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Stiff skin syndrome +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +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) | Familial thoracic aortic aneurysm and aortic dissection +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) | not provided +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Stiff skin syndrome +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +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) | Stiff skin syndrome +7 more | |
| | | Duplication (3 prime UTR variant) | Weill-Marchesani syndrome +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) | Stiff skin syndrome +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Stiff skin syndrome +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) | 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) | Marfan syndrome +7 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 +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 | |
| | | Single nucleotide variant (3 prime UTR variant) | Stiff skin syndrome +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) | Marfan syndrome +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Stiff skin syndrome +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Geleophysic dysplasia +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Ectopia lentis 1, isolated, autosomal dominant +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) | Weill-Marchesani syndrome +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome +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) | Familial thoracic aortic aneurysm and aortic dissection +6 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) | Weill-Marchesani syndrome +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Stiff skin syndrome +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) | 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) | not provided +8 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani 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) | 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) | Weill-Marchesani syndrome +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Weill-Marchesani syndrome +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) | not provided +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) | Stiff skin syndrome +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Geleophysic dysplasia +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Ectopia lentis 1, isolated, autosomal dominant +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 | |
| | | Deletion (3 prime UTR variant) | Weill-Marchesani syndrome +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Stiff skin syndrome +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Stiff skin syndrome +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Stiff skin syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Geleophysic dysplasia +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Marfan syndrome | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Connective tissue disorder +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Stiff skin syndrome +8 more | |
| | | Single nucleotide variant (intron variant) | Ectopia lentis +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Marfan syndrome +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Geleophysic dysplasia +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ectopia lentis 1, isolated, autosomal dominant +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Geleophysic dysplasia +6 more | GConflicting classifications of pathogenicity |