NBN

nibrin

Summary

Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008]

Known Variants2,201 total

rsidPosition (GRCh37)AllelesClassClinVar
rs10021465868:90,945,558A/T—uncertain significance
rs104648678:90,945,598C/T—benign
rs5470819128:90,945,604G/A—uncertain significance
rs1908949378:90,945,622A/G—uncertain significance
rs1178079158:90,945,681A/C—likely benign
rs7551993988:90,945,751T/G—uncertain significance
rs144488:90,945,833A/G—benign
rs133129878:90,945,849A/G—benign
rs5566066858:90,945,987A/G—uncertain significance
rs99958:90,946,056G/A—benign
rs133129868:90,946,118T/C—benign
rs7694158138:90,946,168T/C—uncertain significance
rs1393847348:90,946,227C/T—likely benign
rs18095518048:90,946,248T/C—uncertain significance
rs5324907988:90,946,410G/A—uncertain significance
rs5474798708:90,946,513A/C—uncertain significance
rs9891248788:90,946,523T/C—uncertain significance
rs13560127508:90,946,543T/C—uncertain significance
rs133129858:90,946,588T/G—likely benign
rs10408871828:90,946,590G/C—uncertain significance
rs10630548:90,946,601T/G3 prime UTR variantbenign
rs133129848:90,946,797T/C—benign
rs789352108:90,946,823A/C—conflicting classifications of pathogenicity
rs133129838:90,946,827C/T—uncertain significance
rs119878658:90,946,873A/G—benign
rs7529584538:90,946,981A/T—uncertain significance
rs119878878:90,947,020A/C—benign
rs133129818:90,947,053T/C—benign
rs18095943228:90,947,130T/C—uncertain significance
rs9763561958:90,947,172C/T—uncertain significance
rs27353838:90,947,269C/G3 prime UTR variantbenign
rs8860631648:90,947,288A/G—uncertain significance
rs37801238:90,947,306T/C—uncertain significance
rs8860631658:90,947,325T/C—uncertain significance
rs133129798:90,947,391G/A—benign
rs1048950308:90,947,409G/C—conflicting classifications of pathogenicity
rs133129788:90,947,458G/C—uncertain significance
rs133129768:90,947,494T/C—likely benign
rs10630538:90,947,537C/T—benign
rs8860631668:90,947,584A/G—uncertain significance
rs8860631678:90,947,687A/T—uncertain significance
rs7620743578:90,947,808A/C—uncertain significance
rs15634950558:90,947,812A/G—uncertain significance
rs21307356298:90,947,814C/G—uncertain significance
rs21307356418:90,947,815T/G—conflicting classifications of pathogenicity
rs7653913088:90,947,816T/C—likely benign
rs7730206648:90,947,817C/G—uncertain significance
rs24881633388:90,947,818T/C—uncertain significance
rs24881633438:90,947,819C/T—likely benign
rs18096324938:90,947,820C/G—uncertain significance
rs15545538688:90,947,825T/A—uncertain significance
rs7627404788:90,947,828A/G—likely benign
rs8646224468:90,947,829T/A—conflicting classifications of pathogenicity
rs11996172098:90,947,830A/G—uncertain significance
rs15545538848:90,947,831A/T—likely benign
rs18096336758:90,947,833G/A—uncertain significance
rs7662374648:90,947,835T/C—uncertain significance
rs24881634718:90,947,836T/C—uncertain significance
rs7515707138:90,947,837G/C—likely pathogenic
rs15545538938:90,947,838T/C—uncertain significance
rs24881635258:90,947,839A/C—uncertain significance
rs7548654658:90,947,840T/C—conflicting classifications of pathogenicity
rs24881635508:90,947,841C/T—pathogenic
rs7670947048:90,947,842T/C—uncertain significance
rs15545538978:90,947,843G/A—uncertain significance
rs15545538988:90,947,844C/T—uncertain significance
rs21307357968:90,947,845A/C—likely benign
rs24881636178:90,947,846A/G—likely benign
rs3690374958:90,947,848G/A—conflicting classifications of pathogenicity
rs11621540798:90,947,849A/G—likely benign
rs24881636458:90,947,851A/G—likely benign
rs15545539048:90,947,852G/A—likely benign
rs21307358238:90,947,853A/G—uncertain significance
rs14056881258:90,947,856T/G—likely benign
rs1381062148:90,947,858G/A—likely benign
rs10575244308:90,947,859G/A—likely benign
rs12163973208:90,947,860G/A—likely benign
rs133129738:90,948,012G/A—benign
rs1833799878:90,948,650G/A—likely benign
rs133129718:90,949,097T/C—likely benign
rs133129708:90,949,166G/C—benign
rs10575247738:90,949,237G/A—likely benign
rs15634974988:90,949,238G/A—likely benign
rs7630713388:90,949,240G/A—likely benign
rs21307390228:90,949,241A/G—likely benign
rs10575238678:90,949,242A/G—likely benign
rs14465051288:90,949,245A/C—conflicting classifications of pathogenicity
rs7739853158:90,949,248C/G—uncertain significance
rs15860241218:90,949,249T/C—uncertain significance
rs1423011948:90,949,252A/Csplice region variantpathogenic
rs15860241478:90,949,253C/A—likely pathogenic
rs10559558818:90,949,256A/G—likely benign
rs24881692128:90,949,257A/C—uncertain significance
rs24881692428:90,949,260A/C—uncertain significance
rs8941897348:90,949,261G/T—uncertain significance
rs7675235148:90,949,262A/T—uncertain significance
rs7464795778:90,949,264C/A—uncertain significance
rs24881693608:90,949,266T/A—uncertain significance
rs15860242378:90,949,267C/T—uncertain significance
rs1474949818:90,949,268A/G—likely benign

Showing 100 of 2,201 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.