| | | Single nucleotide variant (genic upstream transcript variant +1 more) | Marfan syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (genic upstream transcript variant +1 more) | Diabetic retinopathy +4 more | GUncertain significance/Uncertain risk allele |
| | | Single nucleotide variant (genic upstream transcript variant +1 more) | Loeys-Dietz syndrome 2 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Malignant tumor of esophagus +5 more | GUncertain significance/Uncertain risk allele |
| | | Single nucleotide variant (missense variant +1 more) | Diabetic retinopathy +4 more | GUncertain significance/Uncertain risk allele |
| | | Single nucleotide variant (missense variant) | Diabetic retinopathy +5 more | GUncertain significance/Uncertain risk allele |
| | | Single nucleotide variant (synonymous variant +2 more) | Malignant tumor of esophagus +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Loeys-Dietz syndrome 2 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 2 +6 more | GUncertain significance/Uncertain risk allele |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 2 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Loeys-Dietz syndrome 2 +4 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +4 more | GUncertain significance/Uncertain risk allele |
| | | Duplication (frameshift variant) | Colorectal cancer, hereditary nonpolyposis, type 6 +5 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 2 +3 more | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 2 +5 more | |
| | | Single nucleotide variant (missense variant) | not specified +6 more | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 2 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 2 +3 more | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 2 +3 more | |
| | | Single nucleotide variant (missense variant) | Colorectal cancer, hereditary nonpolyposis, type 6 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +4 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +5 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +5 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +6 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | | Single nucleotide variant (missense variant) | Colorectal cancer, hereditary nonpolyposis, type 6 +4 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +5 more | |
| | | Single nucleotide variant (nonsense) | Familial thoracic aortic aneurysm and aortic dissection +5 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 2 +5 more | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 2 +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial thoracic aortic aneurysm and aortic dissection +5 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Autosomal recessive spinocerebellar ataxia 12 +5 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Developmental and epileptic encephalopathy, 28 +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive spinocerebellar ataxia 12 +4 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 28 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 28 +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 28 +4 more | |
| | | Single nucleotide variant (missense variant) | Malignant tumor of esophagus +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 1 +4 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +4 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 28 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Li-Fraumeni syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | |
| | | Single nucleotide variant (intron variant) | Colorectal cancer +4 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | |