| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | 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 | |
| | FBN2, LOC126807501 (R1054C) | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | FBN2, LOC126807501 (E1036K) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Indel (missense variant) | Congenital contractural arachnodactyly +2 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Congenital contractural arachnodactyly +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | Congenital contractural arachnodactyly +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene