| | | Deletion (nonsense) | Colorectal cancer | |
| | | Single nucleotide variant (missense variant) | Colorectal cancer +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Coronal craniosynostosis +26 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Familial adenomatous polyposis 1 +1 more | |
| | | Deletion (frameshift variant) | Classic or attenuated familial adenomatous polyposis +4 more | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Ataxia-telangiectasia syndrome +4 more | |
| | | Microsatellite (frameshift variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Li-Fraumeni syndrome | |
| | | Single nucleotide variant (nonsense) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +16 more | |
| | | Deletion (frameshift variant) | Familial spontaneous pneumothorax +7 more | |
| | RAD51D, RAD51L3-RFFL (R232* +2 more) | Single nucleotide variant (nonsense +1 more) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | CHEK2-related cancer predisposition +10 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Colitis +19 more | |
| | | Single nucleotide variant (missense variant +2 more) | Malignant tumor of prostate +14 more | GConflicting classifications of pathogenicity; risk factor |
| | | Single nucleotide variant (splice donor variant) | CHEK2-related cancer predisposition +11 more | GPathogenic/Likely pathogenic |