| | | Deletion | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome | |
| | | Deletion (frameshift 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) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (missense variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (intron variant) | Arterial tortuosity syndrome | |
| | | Deletion (intron variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (intron variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome | |
| | | Indel (inframe_indel) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (intron variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (intron variant) | Arterial tortuosity syndrome | |
| | | Duplication (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (missense variant) | Arterial tortuosity syndrome | |
| | | Duplication (frameshift variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome | |
| | | Deletion | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (intron 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) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (missense variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (intron variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (intron 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 (intron variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (missense 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 | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (synonymous 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) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (intron 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 +1 more) | Arterial tortuosity syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome +1 more | |
| | | Single nucleotide variant (intron 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 (intron variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (synonymous 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 | |
| | | Deletion (frameshift variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Arterial tortuosity syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Arterial tortuosity syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome +1 more | |
| | | Single nucleotide variant (missense 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) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (intron variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (intron variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome | |
| | | Deletion (intron variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome | |