| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Connective tissue dysplasia +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Connective tissue disorder +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene