| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | FBN1, LOC126862124 (C1444S) | Single nucleotide variant (missense variant) | Marfan syndrome | |
| | FBN1, LOC126862124 (S1438N) | Single nucleotide variant (missense variant) | Marfan syndrome +8 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene