| | | Single nucleotide variant (missense variant) | Shprintzen-Goldberg syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Shprintzen-Goldberg syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | SKI-related condition +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Loeys-Dietz syndrome 4 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Duplication (frameshift variant) | Loeys-Dietz syndrome 4 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Connective tissue disorder +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome type 7A +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, classic type, 1 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Connective tissue disorder +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 2 +2 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Ehlers-Danlos syndrome, classic type, 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +4 more | |
| | MYLK, MYLK-AS1 (R1816H +6 more) | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 +3 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly +3 more | GConflicting classifications of pathogenicity |
| | LOC126807501, FBN2 (R1054C) | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly +1 more | |
| | | Indel (missense variant) | Congenital contractural arachnodactyly +2 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | Congenital contractural arachnodactyly | |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | TGFBR1-related condition +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (inframe_deletion) | Loeys-Dietz syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 1 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 1 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Connective tissue disorder +3 more | |
| | | Single nucleotide variant (synonymous variant) | COL5A1-related condition +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome +9 more | |
| | COL5A1, LOC101448202 (Q1643R) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | COL5A1, LOC101448202 (A1784T) | Single nucleotide variant (missense variant) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Adams-Oliver syndrome 5 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Connective tissue disorder +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Aortic valve disease 1 +1 more | |
| | | Single nucleotide variant (nonsense) | Adams-Oliver syndrome 5 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity; other |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | ACTA2, ACTA2-AS1 (T326N +3 more) | Single nucleotide variant (missense variant) | ACTA2-related condition +6 more | |
| | ACTA2, ACTA2-AS1 (R258C +2 more) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | ACTA2, ACTA2-AS1 (K240N +2 more) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | ACTA2, ACTA2-AS1 (R212Q +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Aortic aneurysm, familial thoracic 6 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 6 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (nonsense) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 6 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Rienhoff syndrome +2 more | GPathogenic/Likely pathogenic |