| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Hereditary cancer-predisposing syndrome +1 more | GPathogenic/Likely pathogenic |
| | RAD50, TH2-LCR
+1 more (R1200*) | Single nucleotide variant (nonsense +1 more) | Nijmegen breakage syndrome-like disorder +1 more | GPathogenic/Likely pathogenic |
| | RAD50, TH2-LCR
+1 more (R1239Q) | Single nucleotide variant (missense variant) | Nijmegen breakage syndrome-like disorder +1 more | |
| | RAD50, TH2-LCR
+1 more (S1255fs) | Deletion (frameshift variant) | Nijmegen breakage syndrome-like disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ovarian cancer +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene