| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | FBN1, LOC113939944 (W366C) | Single nucleotide variant (missense variant) | FBN1-related condition +2 more | GPathogenic/Likely pathogenic |
| | LOC113939944, FBN1 (W366C) | Single nucleotide variant (missense variant) | Marfan syndrome +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene