| | LOC130057927, LOC130057928 +1764 more | Copy number gain | See cases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | LOC110120917, LOC111365216 +33 more | Deletion | Familial thoracic aortic aneurysm and aortic dissection | |
| | LOC110120917, LOC111413015 +19 more | Deletion | Familial thoracic aortic aneurysm and aortic dissection +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +2 more) | SMAD6-related disorder | |
| | | Single nucleotide variant (missense variant +2 more) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant +2 more) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant +2 more) | Aortic valve disease 2 +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +2 more) | Radioulnar synostosis | |
| | | Single nucleotide variant (missense variant +2 more) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Aortic valve disease 2 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aortic valve disease 2 | |
| | | Duplication (frameshift variant +1 more) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Aortic valve disease 2 | |
| | | Single nucleotide variant (nonsense +1 more) | Aortic valve disease 2 | |
| | | Deletion (frameshift variant +1 more) | Radioulnar synostosis | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Aortic valve disease 2 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Aortic valve disease 2 | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Aortic valve disease 2 | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Radioulnar synostosis | |
| | | Single nucleotide variant (missense variant +1 more) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Aortic valve disease 2 | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Aortic valve disease 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Deletion (frameshift variant +1 more) | SMAD6-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Aortic valve disease 2 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Aortic valve disease 2 +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aortic valve disease 2 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Deletion (frameshift variant +1 more) | Radioulnar synostosis | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Aortic valve disease 2 +1 more | |
| | | Duplication (inframe_insertion +1 more) | SMAD6-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aortic valve disease 2 +1 more | |
| | | Duplication (inframe_insertion +1 more) | Aortic valve disease 2 | |
| | | Deletion (inframe_deletion +1 more) | Aortic valve disease 2 +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Inborn genetic diseases +1 more | |
| | | Microsatellite (inframe_insertion +1 more) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Aortic valve disease 2 +1 more | |
| | | Duplication (inframe_insertion +1 more) | Heart, malformation of +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aortic valve disease 2 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Deletion (inframe_deletion +1 more) | Aortic valve disease 2 | |
| | | Duplication (inframe_insertion +1 more) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Thoracic aortic aneurysm | |
| | | Single nucleotide variant (missense variant +1 more) | Aortic valve disease 2 | |
| | | Deletion (inframe_deletion +1 more) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aortic valve disease 2 | |
| | | Microsatellite (inframe_insertion +1 more) | Aortic valve disease 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aortic valve disease 2 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aortic valve disease 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Duplication (frameshift variant +1 more) | Radioulnar synostosis | |
| | | Single nucleotide variant (synonymous variant +1 more) | Inborn genetic diseases | |
| | | Duplication (frameshift variant +1 more) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Aortic valve disease 2 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aortic valve disease 2 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Aortic valve disease 2 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Aortic valve disease 2 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aortic valve disease 2 | |