| | | Deletion (nonsense) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Deletion (frameshift variant) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | BRCA1-related cancer predisposition | |
| | | 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 (splice acceptor variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Microsatellite (inframe_indel +2 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Microsatellite (frameshift variant +2 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | BRCA1, LOC126862571 (I1112fs +21 more) | Deletion (frameshift 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 | |
| | | Deletion (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Deletion (splice donor variant +2 more) | Breast-ovarian cancer, familial, susceptibility to, 1 +1 more | |
| | | Deletion | Hereditary breast ovarian cancer syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Fatal familial insomnia +1 more | |
| | | Microsatellite (inframe_insertion +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | LOC125446261, MLC1 (L4F +1 more) | Single nucleotide variant (missense variant +2 more) | not provided +2 more | |
| | LOC125446261, MLC1 (M80I +1 more) | Single nucleotide variant (missense variant +3 more) | Megalencephalic leukoencephalopathy with subcortical cysts 1 +2 more | GConflicting classifications of pathogenicity |