NHEJ1

non-homologous end joining factor 1

Summary

Double-strand breaks in DNA result from genotoxic stresses and are among the most damaging of DNA lesions. This gene encodes a DNA repair factor essential for the nonhomologous end-joining pathway, which preferentially mediates repair of double-stranded breaks. Mutations in this gene cause different kinds of severe combined immunodeficiency disorders. [provided by RefSeq, Jul 2008]

Known Variants188 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1052483	2:219,934,348	G/T	coding sequence variant	—
rs79018048	2:219,940,946	G/A	—	benign
rs897477	2:219,941,063	A/G	—	benign
rs370636072	2:219,941,107	C/T	—	uncertain significance
rs2106318888	2:219,941,108	T/C	—	uncertain significance
rs760280185	2:219,941,143	G/A	—	uncertain significance
rs1375879411	2:219,941,161	A/G	—	uncertain significance
rs145592698	2:219,941,166	G/T	—	likely benign
rs112591281	2:219,941,169	T/G	—	likely benign
rs145834367	2:219,941,173	G/A	—	uncertain significance
rs190480146	2:219,941,190	G/A	—	benign
rs114490958	2:219,941,227	G/A	—	benign
rs73991015	2:219,941,277	G/A	—	benign
rs114178623	2:219,941,364	C/A	—	benign
rs34828046	2:219,941,678	T/C	—	benign
rs73991016	2:219,941,867	T/C	—	benign
rs115483157	2:219,941,939	C/T	—	likely benign
rs750458375	2:219,941,965	C/T	—	uncertain significance
rs2106319449	2:219,941,975	T/G	—	uncertain significance
rs143112457	2:219,941,987	G/A	—	conflicting classifications of pathogenicity
rs150272598	2:219,941,988	C/A	—	uncertain significance
rs770425392	2:219,941,999	G/A	—	uncertain significance
rs776236777	2:219,942,005	G/A	—	uncertain significance
rs374469478	2:219,942,010	G/C	—	likely benign
rs963528619	2:219,942,012	C/T	—	uncertain significance
rs2469543517	2:219,942,016	T/A	—	uncertain significance
rs149249203	2:219,942,025	C/G	—	uncertain significance
rs35270667	2:219,942,026	T/A	—	likely benign
rs1949023269	2:219,942,028	G/T	—	uncertain significance
rs2106319497	2:219,942,031	T/C	—	likely benign
rs769075999	2:219,942,040	G/A	—	likely benign
rs367766187	2:219,942,045	C/T	—	uncertain significance
rs142143860	2:219,942,046	G/A	—	likely benign
rs199723096	2:219,942,050	C/G	—	uncertain significance
rs2106319547	2:219,942,071	G/A	—	uncertain significance
rs760782648	2:219,942,084	C/G	—	uncertain significance
rs150521220	2:219,942,093	T/A	—	likely benign
rs1574697770	2:219,942,094	C/T	—	likely benign
rs79077082	2:219,942,108	G/C	—	likely benign
rs377230843	2:219,942,792	G/A	—	likely benign
rs745329739	2:219,942,795	C/A	—	uncertain significance
rs757046280	2:219,942,796	C/T	—	likely benign
rs1949030399	2:219,942,798	C/G	—	likely benign
rs6720495	2:219,942,804	G/T	—	benign
rs375778719	2:219,942,814	C/T	—	conflicting classifications of pathogenicity
rs754484855	2:219,942,815	G/A	—	uncertain significance
rs779328166	2:219,942,816	C/T	—	uncertain significance
rs191958428	2:219,942,817	C/T	—	uncertain significance
rs2469545057	2:219,942,833	C/T	—	likely benign
rs1949031096	2:219,942,836	T/C	—	uncertain significance
rs771103739	2:219,942,862	T/C	—	uncertain significance
rs776714106	2:219,942,864	T/C	—	uncertain significance
rs1553542017	2:219,942,874	G/A	—	pathogenic
rs774224764	2:219,942,875	C/T	—	likely benign
rs2106320129	2:219,942,876	A/G	—	uncertain significance
rs2106320135	2:219,942,879	T/C	—	uncertain significance
rs1474143340	2:219,942,901	C/T	—	uncertain significance
rs2106320164	2:219,942,911	G/A	—	likely benign
rs2106320167	2:219,942,914	T/C	—	likely benign
rs541803549	2:219,942,917	C/T	—	likely benign
rs2106320174	2:219,942,918	T/G	—	uncertain significance
rs1259490602	2:219,942,920	T/C	—	likely benign
rs753495484	2:219,942,930	T/C	—	likely pathogenic
rs2106320191	2:219,942,934	A/T	—	likely benign
rs2106320193	2:219,942,935	G/C	—	likely benign
rs2469545388	2:219,942,939	G/C	—	likely benign
rs1432657602	2:219,942,942	G/T	—	likely benign
rs41272693	2:219,942,981	A/G	—	benign
rs56234225	2:219,943,005	C/T	—	benign
rs56285581	2:219,943,132	A/G	—	benign
rs6724465	2:219,943,846	G/A	intron variant	—
rs9288539	2:219,945,274	T/A	intron variant	—
rs562350360	2:219,945,346	T/C	—	—
rs16859517	2:219,949,184	C/T	intron variant	—
rs76426653	2:219,953,589	C/T	intron variant	—
rs556441729	2:219,969,436	C/T	—	—
rs7585868	2:219,982,664	G/T	intron variant	—
rs10165606	2:219,986,944	T/C	intron variant	—
rs1574729059	2:219,993,271	T/C	—	likely pathogenic
rs369012414	2:220,011,397	C/T	—	uncertain significance
rs757690167	2:220,011,406	A/G	—	uncertain significance
rs2106361542	2:220,011,413	A/G	—	uncertain significance
rs146861504	2:220,011,430	T/C	—	benign
rs1180677426	2:220,011,432	T/C	—	likely benign
rs780016182	2:220,011,433	T/C	—	uncertain significance
rs2106361576	2:220,011,437	C/T	—	uncertain significance
rs2469654777	2:220,011,442	G/A	—	uncertain significance
rs372722590	2:220,011,443	G/A	—	uncertain significance
rs1949744959	2:220,011,457	C/T	—	uncertain significance
rs118204453	2:220,011,458	G/A	stop gained	pathogenic
rs1481152382	2:220,011,461	C/T	—	likely pathogenic
rs1064793763	2:220,011,462	T/A	—	pathogenic
rs139194189	2:220,011,537	A/T	—	likely benign
rs7584931	2:220,012,116	C/A	—	benign
rs377105168	2:220,012,361	C/G	—	likely benign
rs2106362226	2:220,012,368	T/C	—	likely benign
rs749513419	2:220,012,370	T/A	—	likely benign
rs376407655	2:220,012,371	C/G	—	likely benign
rs146783338	2:220,012,378	C/T	—	likely pathogenic
rs1304446470	2:220,012,382	G/A	—	pathogenic

Showing 100 of 188 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.