| | | Copy number gain | See cases | |
| | LOC111982877, LOC111982878 +61 more | Deletion | Generalized juvenile polyposis/juvenile polyposis coli | |
| | | Deletion | Generalized juvenile polyposis/juvenile polyposis coli | |
| | LOC130004248, LOC130004249 +57 more | Deletion | PTEN hamartoma tumor syndrome | |
| | LOC130004269, LOC130004270 +23 more | Copy number loss | Poly (ADP-Ribose) polymerase inhibitor response | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Deletion (frameshift variant) | not specified | |
| | | Deletion (frameshift variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | KLLN, LOC130004271 +1 more | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | PTEN hamartoma tumor syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | KLLN, LOC130004273 +2 more | Duplication | PTEN hamartoma tumor syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | KLLN, LOC130004273 +2 more | Deletion | PTEN hamartoma tumor syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Duplication (5 prime UTR variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | | Duplication (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | KLLN, LOC130004273 +2 more | Deletion | Hereditary cancer-predisposing syndrome | |
| | | Duplication (5 prime UTR variant) | not specified +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +7 more | |
| | | Deletion (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Deletion (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Deletion (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +5 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (5 prime UTR variant) | PTEN hamartoma tumor syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Microsatellite (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | PTEN hamartoma tumor syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Deletion (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Indel (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | KLLN-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |