| | | Single nucleotide variant (missense variant +1 more) | Myhre syndrome | |
| | | Deletion (frameshift variant +1 more) | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Myhre syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Myhre syndrome | |
| | | Duplication (frameshift variant) | Myhre syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +5 more | |
| | | Single nucleotide variant (missense variant) | Juvenile polyposis syndrome +6 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Myhre syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Myhre syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Myhre syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Generalized juvenile polyposis/juvenile polyposis coli +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Myhre syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Myhre syndrome +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Myhre syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Myhre syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Myhre syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Myhre syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Myhre syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Myhre syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Myhre syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Myhre syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Generalized juvenile polyposis/juvenile polyposis coli +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Myhre syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Myhre syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Myhre syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Myhre syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Myhre syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Generalized juvenile polyposis/juvenile polyposis coli +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Myhre syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Myhre syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Generalized juvenile polyposis/juvenile polyposis coli +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Myhre syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Myhre syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +5 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Myhre syndrome +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Myhre syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Myhre syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Myhre syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Myhre syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Myhre syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Myhre syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Myhre syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +4 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Myhre syndrome +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Myhre syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Generalized juvenile polyposis/juvenile polyposis coli +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Myhre syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Myhre syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Myhre syndrome +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Myhre syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Myhre syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Myhre syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Generalized juvenile polyposis/juvenile polyposis coli +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Generalized juvenile polyposis/juvenile polyposis coli +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Generalized juvenile polyposis/juvenile polyposis coli +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Generalized juvenile polyposis/juvenile polyposis coli +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Generalized juvenile polyposis/juvenile polyposis coli +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Generalized juvenile polyposis/juvenile polyposis coli +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Generalized juvenile polyposis/juvenile polyposis coli +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Generalized juvenile polyposis/juvenile polyposis coli +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Generalized juvenile polyposis/juvenile polyposis coli +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Generalized juvenile polyposis/juvenile polyposis coli +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +3 more | |
| | | Single nucleotide variant (splice donor variant) | Myhre syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Myhre syndrome +6 more | |
| | | Single nucleotide variant (synonymous variant) | Generalized juvenile polyposis/juvenile polyposis coli +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (synonymous variant) | Juvenile polyposis syndrome +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Juvenile polyposis syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +4 more | |
| | | Single nucleotide variant (synonymous variant) | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | Juvenile Polyposis +2 more | |
| | | Single nucleotide variant | Juvenile Polyposis +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Myhre syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Myhre syndrome +2 more | |
| | | Deletion (3 prime UTR variant) | Juvenile Polyposis +2 more | |
| | | Microsatellite (3 prime UTR variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +2 more | |