| | | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Colorectal cancer +6 more | |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (missense variant) | Young-onset Parkinson disease +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Lynch syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Lynch syndrome | |
| | | Deletion (intron variant) | not specified +7 more | |
| | | Single nucleotide variant (nonsense +1 more) | Glioma susceptibility 2 +8 more | |
| | | Microsatellite (nonsense) | not provided +5 more | |
| | | Microsatellite (frameshift variant) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Deletion (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 | |
| | | Single nucleotide variant (nonsense) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Deletion (frameshift variant) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Indel (frameshift variant) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Single nucleotide variant (nonsense) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Hereditary cancer-predisposing syndrome +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | CDH1-related diffuse gastric and lobular breast cancer syndrome | |
| | | Single nucleotide variant (missense variant) | Li-Fraumeni syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Familial cancer of breast +6 more | |
| | RAD51D, RAD51L3-RFFL (R232* +2 more) | Single nucleotide variant (nonsense +1 more) | Diffuse midline glioma, H3 K27-altered +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +2 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Duplication (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Deletion (splice donor variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Duplication (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Microsatellite (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (S1253fs +21 more) | Microsatellite (intron variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (V1234fs +21 more) | Microsatellite (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (R1203* +21 more) | Single nucleotide variant (intron variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Deletion (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Deletion (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Duplication (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Microsatellite (frameshift variant +2 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (nonsense +2 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Duplication (nonsense +1 more) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Duplication (frameshift variant) | Breast-ovarian cancer, familial, susceptibility to, 3 +3 more | |
| | | Single nucleotide variant (splice acceptor variant) | Breast-ovarian cancer, familial, susceptibility to, 3 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Fanconi anemia complementation group J +5 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Familial cancer of breast +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial cancer of breast +4 more | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Breast and/or ovarian cancer +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | BRIP1-related condition +5 more | |
| | | Single nucleotide variant (intron variant) | Breast and/or ovarian cancer +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Fanconi anemia complementation group J +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Fanconi anemia complementation group J +6 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Colorectal cancer +19 more | |