| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | RAD50, TH2-LCR
+1 more (E1164fs) | Deletion (frameshift variant +1 more) | Hereditary cancer-predisposing syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Nijmegen breakage syndrome-like disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial cancer of breast +4 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene