| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Arterial tortuosity syndrome | |
| | | Duplication (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | SLC2A10-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant +1 more) | Arterial tortuosity syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (intron variant) | Arterial tortuosity syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (intron variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (intron variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Insertion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Deletion (intron variant) | Arterial tortuosity syndrome | |
| | | Deletion (intron variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (intron variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (missense variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (missense variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome +1 more | |
| | | Deletion (frameshift variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (missense variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome | |
| | | Duplication (frameshift variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (missense variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (missense variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (missense variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (missense variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (missense variant) | Arterial tortuosity syndrome | |
| | | Deletion (inframe_indel) | Arterial tortuosity syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (missense variant) | Arterial tortuosity syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (missense variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Arterial tortuosity syndrome | |
| | | 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) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (missense variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Single nucleotide variant (missense variant) | SLC2A10-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | Arterial tortuosity syndrome +1 more | GPathogenic/Likely pathogenic |