| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | COL3A1, LOC126806446 (G782S) | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | COL3A1, LOC126806446 (P785S) | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, type 4 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | GConflicting classifications of pathogenicity |
| | COL3A1, LOC126806446 (A791S) | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | COL3A1, LOC126806446 (A791V) | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, type 4 +1 more | |
| | COL3A1, LOC126806446 (S796I) | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, type 4 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | COL3A1, LOC126806446 (P805R) | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, type 4 +2 more | |
| | COL3A1, LOC126806446 (A814T) | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |