| | LOC126862722, LOC126862723 +1646 more | Copy number gain | See cases | |
| | LINC00683, LINC00907 +1643 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC01478, LINC01538 +1643 more | Copy number gain | See cases | |
| | LOC130062393, LOC130062394 +1643 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062575, LOC130062576 +1643 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062446, LOC130062447 +1266 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC125371434, LOC125371435 +879 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Duplication | Juvenile polyposis syndrome +1 more | |
| | | Deletion | Generalized juvenile polyposis/juvenile polyposis coli +1 more | |
| | | Deletion | Generalized juvenile polyposis/juvenile polyposis coli | |
| | | Deletion | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Myhre syndrome +2 more | |
| | | Microsatellite (5 prime UTR variant) | Juvenile Polyposis +2 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 (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 (5 prime UTR variant) | Myhre syndrome +2 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 (5 prime UTR variant) | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Insertion (intron variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (intron variant) | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | not specified | |
| | | Indel (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Myhre syndrome +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | Generalized juvenile polyposis/juvenile polyposis coli +4 more | |
| | | Deletion (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +1 more | |
| | | Deletion (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Generalized juvenile polyposis/juvenile polyposis coli | |
| | | Deletion (5 prime UTR variant +1 more) | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | |
| | | Deletion (frameshift variant +1 more) | Juvenile polyposis syndrome +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +4 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Generalized juvenile polyposis/juvenile polyposis coli +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Duplication | Generalized juvenile polyposis/juvenile polyposis coli | |
| | | Single nucleotide variant (missense variant +1 more) | Juvenile polyposis syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Juvenile polyposis syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Juvenile polyposis syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Juvenile polyposis syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Juvenile polyposis syndrome | |
| | | Single nucleotide variant (missense variant) | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +4 more | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | | Single nucleotide variant (missense variant) | Juvenile polyposis syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | | Single nucleotide variant (missense variant) | Juvenile polyposis syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Juvenile polyposis syndrome | |
| | | Single nucleotide variant (missense variant) | Juvenile polyposis syndrome | |
| | | Single nucleotide variant (missense variant) | Juvenile polyposis syndrome +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +4 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +8 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Juvenile polyposis syndrome | |
| | | Single nucleotide variant (missense variant) | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +3 more | |