| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant +1 more) | Connective tissue disorder +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 4 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome +5 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 4 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | TGFB2-related condition +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome +5 more | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | TGFB2-related condition +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype +3 more | |
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