| | | Duplication (frameshift variant) | Fanconi anemia complementation group E +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Microcephaly, normal intelligence and immunodeficiency +7 more | |
| | | Single nucleotide variant (splice acceptor variant) | Carcinoma of pancreas | |
| | | Single nucleotide variant (missense variant +1 more) | Ataxia-telangiectasia syndrome +5 more | GPathogenic/Likely pathogenic |
| | | Deletion (intron variant) | Ataxia-telangiectasia syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Ataxia-telangiectasia syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Deletion (frameshift variant) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Deletion (nonsense) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Duplication | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Duplication (frameshift variant) | Carcinoma of pancreas | |
| | | Single nucleotide variant (nonsense) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Single nucleotide variant (missense variant) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Single nucleotide variant (splice acceptor variant) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Single nucleotide variant (missense variant) | Cockayne syndrome +8 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Fanconi anemia complementation group N +10 more | |
| | | Single nucleotide variant (missense variant) | Li-Fraumeni syndrome +5 more | GConflicting classifications of pathogenicity |
| | BRCA1, LOC126862571 (E1257fs +21 more) | Microsatellite (intron variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Deletion (intron 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 (missense variant) | Familial prostate carcinoma +7 more | GConflicting classifications of pathogenicity; association |
| | | Deletion (nonsense) | Fanconi anemia complementation group J +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Carcinoma of pancreas | |
| | | Deletion (frameshift variant +1 more) | Carcinoma of pancreas | |
| | | Deletion (frameshift variant) | Li-Fraumeni syndrome 2 +19 more | |
| | | Deletion (splice acceptor variant +1 more) | TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +5 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice donor variant) | Hereditary breast ovarian cancer syndrome +4 more | GPathogenic/Likely pathogenic |