| | | Copy number gain | See cases | |
| | LOC126862711, LOC126862712 +1643 more | Copy number gain | See cases | |
| | LOC130062667, LOC130062668 +1643 more | Copy number gain | See cases | |
| | LOC130062278, LOC130062279 +1643 more | Copy number gain | See cases | |
| | LOC126862732, LOC126862733 +1643 more | Copy number gain | See cases | |
| | ANKRD12, ANKRD29 +1642 more | Copy number gain | See cases | |
| | SERPINB12, SERPINB13 +1643 more | Copy number gain | See cases | |
| | LOC125368553, LOC125368554 +1643 more | Copy number gain | See cases | |
| | LOC130062355, LOC130062356 +1642 more | Copy number gain | See cases | |
| | LOC126862717, LOC126862718 +1266 more | Copy number gain | See cases | |
| | LOC132090510, LOC132090511 +1089 more | Copy number gain | See cases | |
| | LOC132211113, LOC132211114 +1266 more | Copy number gain | See cases | |
| | LOC130062787, LOC130062788 +1005 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062694, LOC130062695 +887 more | Copy number gain | See cases | |
| | LINC01929, LINC02565 +879 more | Copy number gain | See cases | |
| | LOC126862796, LOC126862797 +733 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Duplication | Juvenile polyposis syndrome +1 more | |
| | | Deletion | Juvenile polyposis syndrome +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) | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +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) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +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 +2 more | |
| | | 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) | Familial thoracic aortic aneurysm and aortic dissection +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) | not provided +4 more | |
| | | Microsatellite (frameshift variant) | Hereditary cancer-predisposing syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Juvenile polyposis syndrome | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +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/hereditary hemorrhagic telangiectasia syndrome +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +4 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) | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +3 more | |