| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Insertion (inframe_insertion +1 more) | Loeys-Dietz syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +6 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +5 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene