| | | Single nucleotide variant (nonsense +1 more) | Familial adenomatous polyposis 2 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | FH-related disorder +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Fumarase deficiency +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | MSH2-related disorder +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Lynch syndrome | |
| | | Duplication (frameshift variant) | Lynch syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +6 more | GPathogenic/Likely pathogenic; risk factor |
| | | Duplication (inframe_insertion) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Paragangliomas 5 +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Paragangliomas 5 +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Mitochondrial complex II deficiency, nuclear type 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +3 more) | Lynch syndrome | |
| | | Single nucleotide variant (missense variant) | Hirschsprung disease, susceptibility to, 1 +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (splice donor variant) | Familial cancer of breast +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Ataxia-telangiectasia syndrome +4 more | |
| | | Single nucleotide variant (nonsense +1 more) | Familial cancer of breast +5 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Duplication (frameshift variant) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Deletion (frameshift variant) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Duplication (frameshift variant) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Deletion (frameshift variant) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Single nucleotide variant (nonsense) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Deletion (nonsense) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Deletion (frameshift variant) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Deletion (frameshift variant) | BRCA2-related cancer predisposition | |
| | | Deletion (frameshift variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Familial cancer of breast +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Birt-Hogg-Dube syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Duplication (intron variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Deletion (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Duplication (frameshift variant +2 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant) | Prostate cancer, hereditary, 9 +7 more | GPathogenic/Likely pathogenic; association |
| | | Deletion (frameshift variant) | not provided +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +7 more | |
| | | Single nucleotide variant (nonsense) | Ovarian neoplasm +5 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Familial cancer of breast +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Familial cancer of breast +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Noonan syndrome 10 +4 more | |
| | | Single nucleotide variant (intron variant) | Schwannomatosis 2 +5 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Bone osteosarcoma +21 more | |
| | | Single nucleotide variant (splice donor variant) | Bone osteosarcoma +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Hereditary breast ovarian cancer syndrome +5 more | GPathogenic/Likely pathogenic |