| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ectopia lentis 1, isolated, autosomal dominant +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +10 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene