| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126862124, FBN1
+5 more | Deletion | Marfan syndrome | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome | |
| | FBN1, LOC130057019 (L11fs) | Deletion | Marfan syndrome | |
Click to view in NCBI Gene