| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (intron variant) | not specified | |
| | FBN1, LOC113939944 (W366C) | Single nucleotide variant (missense variant) | FBN1-related disorder +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | FBN1-related disorder | |
| | FBN1, LOC113939944 (C345R) | Single nucleotide variant (missense variant) | FBN1-related disorder | |
Click to view in NCBI Gene