| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly +1 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly +1 more | GConflicting classifications of pathogenicity |
| | FBN2, LOC126807501 (F1070Y) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | FBN2, LOC126807501 (R999H) | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
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