| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Breast and/or ovarian cancer +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | CHEK2-related condition +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Breast neoplasm +12 more | GPathogenic/Likely pathogenic/Pathogenic, low penetrance/Established risk allele |
| | | Deletion (frameshift variant) | Colorectal cancer +19 more | |
| | | Deletion | Breast and colorectal cancer, susceptibility to +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | CHEK2-related condition +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Predisposition to cancer +5 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_deletion +2 more) | Hereditary cancer-predisposing syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not specified +14 more | GConflicting classifications of pathogenicity; risk factor |
| | | Single nucleotide variant (splice donor variant) | Melanoma +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | CHEK2-related condition +10 more | GConflicting classifications of pathogenicity |
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