| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | RAD50, TH2-LCR
+1 more (R1156H) | Single nucleotide variant (missense variant) | Nijmegen breakage syndrome-like disorder +2 more | |
| | | Deletion (non-coding transcript variant +1 more) | Nijmegen breakage syndrome-like disorder +1 more | |
| | RAD50, TH2-LCR
+1 more (S1255N) | Single nucleotide variant (missense variant) | Nijmegen breakage syndrome-like disorder +1 more | |
Click to view in NCBI Gene