| | | Single nucleotide variant (5 prime UTR variant) | Loeys-Dietz syndrome 1 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome +3 more | |
| | | Microsatellite (inframe_insertion) | Loeys-Dietz syndrome 1 +2 more | |
| | | Microsatellite (inframe_deletion) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Single nucleotide variant (missense variant) | Multiple self-healing squamous epithelioma +6 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 1 +4 more | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 1 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome +4 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |