| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | 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 |
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