| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | FBN1, LOC126862124 (C1444R) | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Marfan syndrome +2 more | |
| | FBN1, LOC126862124 (V1436M) | Single nucleotide variant (missense variant) | not provided +12 more | GConflicting classifications of pathogenicity |
| | FBN1, LOC126862124 (C1431*) | Single nucleotide variant (nonsense) | Marfan syndrome +1 more | |
| | FBN1, LOC126862124 (R1428H) | Single nucleotide variant (missense variant) | Marfan syndrome +9 more | |
| | FBN1, LOC126862124 (P1424L) | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | LOC126862124, FBN1 (L1405R) | Single nucleotide variant (missense variant) | Marfan syndrome | |
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