| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | TH2LCRR, RAD50
+1 more (R1166W) | Single nucleotide variant (missense variant +1 more) | Nijmegen breakage syndrome-like disorder +4 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) | Nijmegen breakage syndrome-like disorder +2 more | |
Click to view in NCBI Gene