| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 4 +3 more | |
Click to view in NCBI Gene