| | | Single nucleotide variant (5 prime UTR variant) | SLC2A10-related condition | |
| | | Single nucleotide variant (synonymous variant) | SLC2A10-related condition | |
| | | 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) | 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 | |
| | | Deletion (frameshift variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | SLC2A10-related condition | |
| | | Single nucleotide variant (nonsense) | SLC2A10-related condition | |
| | | 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 (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Arterial tortuosity syndrome | |
| | | Duplication (frameshift 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 | |
| | | 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 | |
| | | Single nucleotide variant (synonymous variant) | SLC2A10-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant) | Arterial tortuosity syndrome +2 more | |
| | | 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) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous 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 | |
| | | Deletion (frameshift 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) | Arterial tortuosity syndrome | |
| | | Duplication | not provided | |
| | | Deletion | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (intron variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | 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 (missense variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (missense 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 (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) | Familial thoracic aortic aneurysm and aortic dissection +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 | |