| | LOC105372173, LOC105372179 +1646 more | Copy number gain | See cases | |
| | LOC105372069, LOC105372071 +1643 more | Copy number gain | See cases | |
| | LOC121852961, LOC121852962 +1643 more | Copy number gain | See cases | |
| | LOC130062369, LOC130062370 +1643 more | Copy number gain | See cases | |
| | LOC130062321, LOC130062322 +1643 more | Copy number gain | See cases | |
| | LOC130062687, LOC130062688 +1642 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062768, LOC130062769 +1642 more | Copy number gain | See cases | |
| | LOC130062608, LOC130062609 +1266 more | Copy number gain | See cases | |
| | LOC130062514, LOC130062515 +1089 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC01902, LINC01903 +1005 more | Copy number gain | See cases | |
| | LOC126862765, LOC126862766 +596 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062712, LOC130062713 +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 (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) | Hereditary cancer-predisposing syndrome +3 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) | Juvenile polyposis 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 syndrome | |
| | | Single nucleotide variant (synonymous variant) | Juvenile polyposis syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Juvenile polyposis syndrome +3 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) | 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) | SMAD4-related condition +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Juvenile polyposis syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +8 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Juvenile polyposis syndrome | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Single nucleotide variant (synonymous variant) | Juvenile polyposis syndrome | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |