| | FBN1, LOC113939944 +1 more | Deletion | Weill-Marchesani syndrome 2, dominant | |
| | | Single nucleotide variant (missense variant) | Weill-Marchesani syndrome 2, dominant | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Single nucleotide variant (missense variant) | Geleophysic dysplasia 2 +7 more | |
| | | Single nucleotide variant (intron variant) | Geleophysic dysplasia 2 +7 more | |
| | | Single nucleotide variant (intron variant) | Geleophysic dysplasia 2 +7 more | |
| | | Single nucleotide variant (missense variant) | Geleophysic dysplasia 2 +7 more | |
| | | Deletion (frameshift variant) | Geleophysic dysplasia 2 +8 more | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +8 more | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +9 more | |
| | | Single nucleotide variant (intron variant) | Marfan syndrome +8 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Stiff skin syndrome +7 more | |
| | | Single nucleotide variant (missense variant) | Stiff skin syndrome +7 more | |
| | | Single nucleotide variant (synonymous variant) | Ectopia lentis 1, isolated, autosomal dominant +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Stiff skin syndrome +7 more | |
| | | Single nucleotide variant (intron variant) | Marfan syndrome +9 more | |
| | | Duplication (splice donor variant) | Ectopia lentis 1, isolated, autosomal dominant +7 more | |
| | | Single nucleotide variant (missense variant) | FBN1-related disorder +9 more | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Weill-Marchesani syndrome 2, dominant +8 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Stiff skin syndrome +9 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +9 more | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +8 more | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +8 more | |
| | | Single nucleotide variant (missense variant) | Geleophysic dysplasia 2 +8 more | |
| | | Single nucleotide variant (missense variant) | Stiff skin syndrome +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Progeroid and marfanoid aspect-lipodystrophy syndrome +7 more | |
| | | Single nucleotide variant (missense variant) | not provided +9 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +8 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +8 more | |
| | | Single nucleotide variant (missense variant) | Stiff skin syndrome +8 more | |
| | | Single nucleotide variant (missense variant) | MASS syndrome +8 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +9 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +9 more | |
| | FBN1, LOC113939944 (R344H) | Single nucleotide variant (missense variant) | Geleophysic dysplasia 2 +8 more | |
| | | Single nucleotide variant (intron variant) | Ectopia lentis 1, isolated, autosomal dominant +9 more | |
| | | Single nucleotide variant (missense variant) | Progeroid and marfanoid aspect-lipodystrophy syndrome +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Stiff skin syndrome +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Acromicric dysplasia +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +8 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +10 more | GConflicting classifications of pathogenicity |
| | FBN1, LOC126862124 (N1417S) | Single nucleotide variant (missense variant) | Marfan syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ectopia lentis 1, isolated, autosomal dominant +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +8 more | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +10 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +8 more | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +8 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +8 more | |
| | | Single nucleotide variant (missense variant) | Ectopia lentis 1, isolated, autosomal dominant +8 more | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +8 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +8 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +9 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ectopia lentis 1, isolated, autosomal dominant +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Stiff skin syndrome +8 more | |
| | | Single nucleotide variant (missense variant) | Stiff skin syndrome +8 more | |
| | | Single nucleotide variant (missense variant) | Ectopia lentis 1, isolated, autosomal dominant +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ectopia lentis 1, isolated, autosomal dominant +9 more | |
| | | Single nucleotide variant (missense variant) | Ectopia lentis 1, isolated, autosomal dominant +8 more | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ectopia lentis 1, isolated, autosomal dominant +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +9 more | |
| | | Single nucleotide variant (missense variant) | not provided +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ectopia lentis 1, isolated, autosomal dominant +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +9 more | |
| | LOC126862124, FBN1 (A1443V) | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +8 more | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +8 more | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +10 more | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +9 more | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +9 more | |
| | | Single nucleotide variant (missense variant) | Stiff skin syndrome +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +8 more | |
| | | Single nucleotide variant (missense variant) | Ectopia lentis 1, isolated, autosomal dominant +9 more | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +9 more | |
| | | Single nucleotide variant (synonymous variant) | Marfan syndrome +8 more | |
| | FBN1, LOC126862124 (D1432N) | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +8 more | |
| | | Single nucleotide variant (missense variant) | Geleophysic dysplasia 2 +8 more | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +9 more | |
| | | Single nucleotide variant (missense variant) | not provided +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +9 more | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +8 more | |
| | FBN1, LOC113939944 (A373V) | Single nucleotide variant (missense variant) | Marfan syndrome +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ectopia lentis 1, isolated, autosomal dominant +8 more | |
| | | Single nucleotide variant (missense variant) | Geleophysic dysplasia 2 +10 more | |
| | | Single nucleotide variant (missense variant) | Ectopia lentis 1, isolated, autosomal dominant +8 more | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +8 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +9 more | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +8 more | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +8 more | |