| | | Single nucleotide variant (missense variant) | Nijmegen breakage syndrome-like disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Nijmegen breakage syndrome-like disorder +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Nijmegen breakage syndrome-like disorder +5 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Hereditary breast ovarian cancer syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary breast ovarian cancer syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary breast ovarian cancer syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary breast ovarian cancer syndrome +1 more | |
| | RAD50, TH2-LCR
+1 more (R1166W) | Single nucleotide variant (missense variant +1 more) | Hereditary breast ovarian cancer syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Nijmegen breakage syndrome-like disorder +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion +1 more) | Hereditary breast ovarian cancer syndrome +2 more | |