| | | Single nucleotide variant (intron variant) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (intron variant) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (intron variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (D1315fs +21 more) | Deletion (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (M1361L +21 more) | Single nucleotide variant (missense variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | LOC126862571, BRCA1 (Q1359* +21 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 | |
| | BRCA1, LOC126862571 (N1355fs +21 more) | Deletion (intron variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (N1355del +21 more) | Microsatellite (intron variant +2 more) | Hereditary breast ovarian cancer syndrome +4 more | GConflicting classifications of pathogenicity |
| | BRCA1, LOC126862571 (E1353* +21 more) | Single nucleotide variant (nonsense +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (E1352K +21 more) | Single nucleotide variant (missense variant +1 more) | Hereditary breast ovarian cancer syndrome +1 more | GConflicting classifications of pathogenicity |
| | BRCA1, LOC126862571 (L1351fs +21 more) | Duplication (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (L1304fs +21 more) | Insertion (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (T1349M +21 more) | Single nucleotide variant (intron variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (T1349P +21 more) | Single nucleotide variant (missense variant +1 more) | Hereditary breast ovarian cancer syndrome +2 more | GConflicting classifications of pathogenicity |
| | BRCA1, LOC126862571 (G1348fs +21 more) | Microsatellite (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (R1347K +21 more) | Single nucleotide variant (missense variant +1 more) | Hereditary breast ovarian cancer syndrome +2 more | GConflicting classifications of pathogenicity |
| | BRCA1, LOC126862571 (G1348fs +21 more) | Deletion (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (R1347G +21 more) | Single nucleotide variant (missense variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (E1346del +21 more) | Microsatellite (inframe_indel +2 more) | Hereditary breast ovarian cancer syndrome +2 more | |
| | BRCA1, LOC126862571 (E1346K +21 more) | Single nucleotide variant (missense variant +1 more) | BRCA1-related disorder +4 more | |
| | BRCA1, LOC126862571 (E1299fs +21 more) | Deletion (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (D1344G +21 more) | Single nucleotide variant (intron variant +1 more) | Hereditary breast ovarian cancer syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (E1339* +21 more) | Single nucleotide variant (nonsense +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (D1337E +21 more) | Single nucleotide variant (intron variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | LOC126862571, BRCA1 (R1325fs +21 more) | Deletion (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (M1324fs +21 more) | Deletion (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (Q1323* +21 more) | Single nucleotide variant (nonsense +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (K1275fs +21 more) | Deletion (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (K1322I +21 more) | Single nucleotide variant (missense variant +1 more) | Hereditary breast ovarian cancer syndrome +2 more | GConflicting classifications of pathogenicity |
| | BRCA1, LOC126862571 (K1322* +21 more) | Single nucleotide variant (nonsense +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (S1320P +21 more) | Single nucleotide variant (missense variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (P1315H +21 more) | Single nucleotide variant (missense variant +1 more) | Hereditary breast ovarian cancer syndrome +1 more | GConflicting classifications of pathogenicity |
| | BRCA1, LOC126862571 (D1314N +21 more) | Single nucleotide variant (missense variant +1 more) | Hereditary breast ovarian cancer syndrome +1 more | GConflicting classifications of pathogenicity |
| | BRCA1, LOC126862571 (Q1313* +21 more) | Single nucleotide variant (intron variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (N1311fs +21 more) | Deletion (intron variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (N1264fs +21 more) | Deletion (intron variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (T1310K +21 more) | Single nucleotide variant (missense variant +1 more) | Hereditary breast ovarian cancer syndrome +6 more | GConflicting classifications of pathogenicity |
| | BRCA1, LOC126862571 (L1306fs +21 more) | Deletion (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (L1256fs +21 more) | Duplication (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (E1302* +21 more) | Single nucleotide variant (nonsense +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | LOC126862571, BRCA1 (S1301R +21 more) | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (nonsense +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (Q1299* +21 more) | Single nucleotide variant (nonsense +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (S1298* +21 more) | Single nucleotide variant (nonsense +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (S1298del +20 more) | Microsatellite (inframe_indel +2 more) | Hereditary cancer-predisposing syndrome +2 more | |
| | BRCA1, LOC126862571 (A1293V +21 more) | Single nucleotide variant (missense variant +1 more) | Hereditary breast ovarian cancer syndrome +1 more | GConflicting classifications of pathogenicity |
| | BRCA1, LOC126862571 (A1293D +21 more) | Single nucleotide variant (missense variant +1 more) | Hereditary breast ovarian cancer syndrome +1 more | GConflicting classifications of pathogenicity |
| | BRCA1, LOC126862571 (K1290fs +21 more) | Deletion (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (K1290fs +21 more) | Deletion (intron variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (K1290* +21 more) | Single nucleotide variant (intron variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (E1241fs +21 more) | Deletion (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (S1239fs +21 more) | Deletion (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (S1239fs +21 more) | Deletion (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (H1284R +21 more) | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | BRCA1, LOC126862571 (H1283R +21 more) | Single nucleotide variant (intron variant +1 more) | Hereditary breast ovarian cancer syndrome +4 more | GConflicting classifications of pathogenicity |
| | BRCA1, LOC126862571 (E1282V +21 more) | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +4 more | GConflicting classifications of pathogenicity |
| | BRCA1, LOC126862571 (Q1281del +21 more) | Deletion (inframe_deletion +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Indel (intron variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (Q1281P +21 more) | Single nucleotide variant (missense variant +1 more) | Hereditary breast ovarian cancer syndrome +4 more | GConflicting classifications of pathogenicity |
| | BRCA1, LOC126862571 (Q1281fs +21 more) | Deletion (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (Q1281* +21 more) | Single nucleotide variant (nonsense +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (A1279T +21 more) | Single nucleotide variant (missense variant +1 more) | Hereditary breast ovarian cancer syndrome +4 more | GConflicting classifications of pathogenicity |
| | BRCA1, LOC126862571 (A1232fs +21 more) | Duplication (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (I1275V +21 more) | Single nucleotide variant (missense variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (V1274fs +21 more) | Duplication (intron variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (Q1273* +21 more) | Single nucleotide variant (intron variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | LOC126862571, BRCA1 (N1268S +21 more) | Single nucleotide variant (missense variant +1 more) | Hereditary breast ovarian cancer syndrome +1 more | GConflicting classifications of pathogenicity |
| | BRCA1, LOC126862571 (S1266T +21 more) | Single nucleotide variant (intron variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (N1218fs +21 more) | Deletion (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (S1262L +21 more) | Single nucleotide variant (missense variant +1 more) | Hereditary breast ovarian cancer syndrome +3 more | GConflicting classifications of pathogenicity |
| | BRCA1, LOC126862571 (S1262* +21 more) | Single nucleotide variant (nonsense +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (intron variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (L1214fs +21 more) | Deletion (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (L1213fs +21 more) | Insertion (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (L1213fs +21 more) | Deletion (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (N1259T +21 more) | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +4 more | GConflicting classifications of pathogenicity |
| | BRCA1, LOC126862571 (N1212fs +21 more) | Deletion (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (E1257fs +21 more) | Microsatellite (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (T1256fs +21 more) | Duplication (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (N1144fs +21 more) | Duplication (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (N1208fs +21 more) | Deletion (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (K1207fs +21 more) | Insertion (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | LOC126862571, BRCA1 (K1207fs +21 more) | Insertion (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (K1254E +21 more) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | BRCA1, LOC126862571 (K1254* +21 more) | Duplication (frameshift variant +2 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (K1207fs +21 more) | Deletion (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (S1253fs +21 more) | Microsatellite (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (E1250K +21 more) | Single nucleotide variant (missense variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (E1250* +21 more) | Single nucleotide variant (intron variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (Q1193fs +21 more) | Deletion (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (T1249S +21 more) | Single nucleotide variant (missense variant +1 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | BRCA1, LOC126862571 (S1194fs +21 more) | Deletion (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | LOC126862571, BRCA1 (V1247I +21 more) | Single nucleotide variant (missense variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (T1199fs +21 more) | Deletion (intron variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (T1242A +21 more) | Single nucleotide variant (intron variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (S1241Y +21 more) | Single nucleotide variant (intron variant +1 more) | Hereditary breast ovarian cancer syndrome +4 more | GConflicting classifications of pathogenicity |
| | BRCA1, LOC126862571 (Q1240* +21 more) | Single nucleotide variant (nonsense +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |