| | LOC126860768, LOC126860769 +3785 more | Copy number gain | See cases | |
| | LOC124310660, LOC124310661 +3784 more | Copy number gain | See cases | |
| | LOC111413024, LOC111413033 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC116216098, LOC116216099 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860765, LOC126860766 +3785 more | Copy number gain | See cases | |
| | LOC130002043, LOC130002044 +1072 more | Copy number gain | See cases | |
| | LOC126860637, LOC126860638 +1188 more | Copy number gain | See cases | |
| | LOC130002218, LOC130002219 +994 more | Copy number gain | See cases | |
| | LOC130002205, LOC130002206 +417 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | Loeys-Dietz syndrome 1 | |
| | | Deletion (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Loeys-Dietz syndrome +2 more | |
| | | Microsatellite (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Loeys-Dietz syndrome 1 | |
| | | Deletion | Familial thoracic aortic aneurysm and aortic dissection | |
| | ALG2, LOC121331339 +10 more | Deletion | Familial thoracic aortic aneurysm and aortic dissection | |
| | LOC130002223, TGFBR1 (M1fs) | Deletion (frameshift variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (5 prime UTR variant) | Loeys-Dietz syndrome 1 +4 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided +2 more | |
| | LOC130002223, TGFBR1 (P10fs) | Duplication (frameshift variant +4 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | LOC130002223, TGFBR1 (M1T) | Single nucleotide variant (missense variant +4 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | LOC130002223, TGFBR1 (A3T) | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | LOC130002223, TGFBR1 (A3V) | Single nucleotide variant (missense variant) | Marfan syndrome | |
| | LOC130002223, TGFBR1 (A4T) | Single nucleotide variant (missense variant +3 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | LOC130002223, TGFBR1 (A4V) | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | LOC130002223, TGFBR1 (V5I) | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | LOC130002223, TGFBR1 (V5A) | Single nucleotide variant (missense variant +3 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | LOC130002223, TGFBR1 (V5G) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant +3 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | LOC130002223, TGFBR1 (A7G) | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | LOC130002223, TGFBR1 (A7V) | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | GConflicting classifications of pathogenicity |
| | LOC130002223, TGFBR1 (P8L) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130002223, TGFBR1 (R9fs) | Deletion (frameshift variant) | not specified | |
| | | Single nucleotide variant (synonymous variant +3 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | LOC130002223, TGFBR1 (P10S) | Single nucleotide variant (missense variant +3 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | LOC130002223, TGFBR1 (R11Q) | Single nucleotide variant (missense variant) | not specified +1 more | |
| | LOC130002223, TGFBR1 (R11P) | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | LOC130002223, TGFBR1 (L12P) | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (inframe_insertion +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant +3 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 1 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant +3 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (inframe_insertion +3 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | TGFBR1-related condition +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome | |
| | | Microsatellite (inframe_insertion) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Microsatellite (inframe_insertion) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Microsatellite (inframe_insertion) | Familial thoracic aortic aneurysm and aortic dissection +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_insertion) | Familial thoracic aortic aneurysm and aortic dissection +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_insertion) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_indel) | not specified | |
| | | Single nucleotide variant (synonymous variant +3 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Microsatellite (inframe_deletion) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Microsatellite (inframe_deletion) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | TGFBR1-related condition +2 more | |
| | | Microsatellite (inframe_deletion) | Ehlers-Danlos syndrome +3 more | |
| | | Microsatellite (inframe_deletion) | Familial thoracic aortic aneurysm and aortic dissection +5 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome | |
| | | 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 | |
| | | Duplication (intron variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (intron variant +3 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Deletion (frameshift variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (inframe_deletion) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (intron variant +3 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Deletion (inframe_deletion) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant +3 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous 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) | 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 | GConflicting classifications of pathogenicity |
| | | Duplication (splice donor variant) | Familial thoracic aortic aneurysm and aortic dissection | |