| | | Single nucleotide variant (intron variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (5 prime UTR variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | GUncertain significance/Uncertain risk allele |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant +1 more) | Diabetic retinopathy +4 more | GUncertain significance/Uncertain risk allele |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Loeys-Dietz syndrome 2 +4 more | |
| | | Single nucleotide variant (missense variant) | Diabetic retinopathy +2 more | GUncertain significance/Uncertain risk allele |
| | | Single nucleotide variant (synonymous variant +2 more) | Familial thoracic aortic aneurysm and aortic dissection +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 2 +2 more | GUncertain significance/Uncertain risk allele |
| | | Single nucleotide variant (synonymous variant +2 more) | Diabetic retinopathy +1 more | |
| | | Single nucleotide variant (missense variant) | Diabetic retinopathy +2 more | GUncertain significance/Uncertain risk allele |
| | | Single nucleotide variant (missense variant) | Diabetic retinopathy +1 more | GUncertain significance/Uncertain risk allele |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GUncertain significance/Uncertain risk allele |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 2 +5 more | GUncertain significance/Uncertain risk allele |
| | | Single nucleotide variant (intron variant) | Diabetic retinopathy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Diabetic retinopathy +2 more | |
| | | Microsatellite (intron variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (intron variant) | Diabetic retinopathy +2 more | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (intron variant) | Loeys-Dietz syndrome 2 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Diabetic retinopathy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Diabetic retinopathy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Diabetic retinopathy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 2 +2 more | |
| | | Single nucleotide variant (missense variant) | Diabetic retinopathy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Diabetic retinopathy +1 more | |
| | | Single nucleotide variant (missense variant) | Diabetic retinopathy +1 more | GUncertain significance/Uncertain risk allele |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Deletion (frameshift variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (intron variant) | Diabetic retinopathy +1 more | |
| | | Single nucleotide variant (intron variant) | Loeys-Dietz syndrome 2 +3 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | GUncertain significance/Uncertain risk allele |
| | | Single nucleotide variant (synonymous variant +1 more) | TGFBR2-related disorder +3 more | |
| | | Single nucleotide variant (missense variant) | Diabetic retinopathy +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 | GUncertain significance/Uncertain risk allele |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Diabetic retinopathy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 2 +4 more | GUncertain significance/Uncertain risk allele |
| | | Single nucleotide variant (synonymous variant +1 more) | Diabetic retinopathy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Diabetic retinopathy +1 more | GUncertain significance/Uncertain risk allele |
| | | Single nucleotide variant (missense variant) | not specified +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Duplication (frameshift variant) | Familial thoracic aortic aneurysm and aortic dissection +4 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Deletion (frameshift variant) | Loeys-Dietz syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | GUncertain significance/Uncertain risk allele |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | TGFBR2-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 2 +3 more | |
| | | Deletion (intron variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not specified +5 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 2 +3 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 | |
| | | Deletion (frameshift variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 2 +4 more | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 2 +5 more | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 2 +6 more | |