| | | Single nucleotide variant (5 prime UTR variant) | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Heritable Thoracic Aortic Disease +7 more | |
| | | Single nucleotide variant (missense variant) | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +7 more | |
| | | Single nucleotide variant (missense variant) | Juvenile polyposis syndrome +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +7 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Juvenile polyposis syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Juvenile polyposis syndrome +6 more | |
| | | Single nucleotide variant (missense variant) | Juvenile polyposis syndrome +6 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +7 more | |
| | | Single nucleotide variant (missense variant) | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Carcinoma of pancreas +5 more | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +5 more | |
| | | Single nucleotide variant (missense variant) | Myhre syndrome +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental delay +9 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile polyposis syndrome +4 more | |