| | | Copy number gain | Fanconi anemia, complementation group S +3 more | |
| | BRCA1, LOC126862571 (G1287D +21 more) | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Fanconi anemia, complementation group S +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary breast ovarian cancer syndrome +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary breast ovarian cancer syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant +1 more) | Hereditary cancer-predisposing syndrome +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Hereditary breast ovarian cancer syndrome | |
| | | Single nucleotide variant (nonsense +2 more) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 +7 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +6 more | |
| | BRCA1, LOC126862571 (E1258del +21 more) | Microsatellite (inframe_indel +2 more) | Fanconi anemia, complementation group S +4 more | |
| | | Single nucleotide variant (nonsense +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Deletion (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Deletion (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Deletion (frameshift variant +2 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (Q1135E +21 more) | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Fanconi anemia, complementation group S +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Fanconi anemia, complementation group S +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Fanconi anemia, complementation group S +7 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | not provided +5 more | |
| | | Single nucleotide variant (intron variant) | not provided +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary breast ovarian cancer syndrome +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Deletion (splice acceptor variant) | Hereditary cancer-predisposing syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +6 more | |
| | BRCA1, LOC126862571 (S1253C +21 more) | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Pancreatic cancer, susceptibility to, 4 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Pancreatic cancer, susceptibility to, 4 +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 +5 more | |
| | | Single nucleotide variant (intron variant) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (synonymous variant) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Microsatellite (intron variant) | not specified +6 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (intron variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (intron variant) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (E1352* +21 more) | Single nucleotide variant (nonsense +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (E1185D +21 more) | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not specified +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Duplication (frameshift variant +2 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 | |
| | | Single nucleotide variant (intron variant) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (intron variant) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (intron variant) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 +6 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice acceptor variant) | Hereditary cancer-predisposing syndrome +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Breast neoplasm +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Breast and/or ovarian cancer +9 more | |
| | | Single nucleotide variant (missense variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (splice donor variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +7 more | |
| | | 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 (splice acceptor variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 +6 more | |
| | | Single nucleotide variant (intron variant) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (G1348fs +21 more) | Microsatellite (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant +3 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (S1298* +21 more) | Single nucleotide variant (intron variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (N1236K +21 more) | Single nucleotide variant (missense variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (S1217P +21 more) | Single nucleotide variant (missense variant +1 more) | Familial cancer of breast +7 more | GConflicting classifications of pathogenicity |
| | BRCA1, LOC126862571 (Q1200* +21 more) | Single nucleotide variant (nonsense +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (A1142P +21 more) | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +6 more | GConflicting classifications of pathogenicity |
| | | 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 | |
| | | Single nucleotide variant (nonsense +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Deletion (intron variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (missense 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 | |
| | | Single nucleotide variant (missense variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (intron variant +1 more) | Hereditary cancer-predisposing syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 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 | |
| | | Single nucleotide variant (intron variant +1 more) | Hereditary cancer-predisposing syndrome +9 more | |
| | | Single nucleotide variant (nonsense +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |