| | | Single nucleotide variant (intron variant) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (N1355fs +21 more) | Deletion (frameshift variant +1 more) | 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 (G1348fs +21 more) | Microsatellite (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (G1287D +21 more) | Single nucleotide variant (intron variant +1 more) | Hereditary cancer-predisposing syndrome +5 more | GConflicting classifications of pathogenicity |
| | BRCA1, LOC126862571 (S1298* +21 more) | Single nucleotide variant (nonsense +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (K1207fs +21 more) | Deletion (intron variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (S1253C +21 more) | Single nucleotide variant (missense variant +1 more) | Hereditary breast ovarian cancer syndrome +8 more | GConflicting classifications of pathogenicity |
| | 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 (S1170fs +21 more) | Duplication (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (Q1200* +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 breast ovarian cancer syndrome +7 more | GConflicting classifications of pathogenicity |
| | BRCA1, LOC126862571 (K1183R +21 more) | Single nucleotide variant (intron variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (C1146fs +21 more) | Deletion (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (A1142P +21 more) | Single nucleotide variant (missense variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 +6 more | GConflicting classifications of pathogenicity |
| | BRCA1, LOC126862571 (S1140G +21 more) | Single nucleotide variant (intron variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (Q1135E +21 more) | Single nucleotide variant (intron variant +1 more) | Hereditary cancer-predisposing syndrome +6 more | GConflicting classifications of pathogenicity |
| | BRCA1, LOC126862571 (Q1064fs +20 more) | Deletion (intron variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (P1099L +20 more) | Single nucleotide variant (intron variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |