NLRC4

NLR family CARD domain containing 4

Summary

This gene encodes a member of the caspase recruitment domain-containing NLR family. Family members play essential roles in innate immune response to a wide range of pathogenic organisms, tissue damage and other cellular stresses. Mutations in this gene result in autoinflammation with infantile enterocolitis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

Known Variants637 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs774537513	2:32,449,542	T/C	—	likely benign
rs1686313344	2:32,449,547	C/T	—	uncertain significance
rs772124793	2:32,449,553	C/G	—	uncertain significance
rs200098511	2:32,449,555	A/T	—	uncertain significance
rs1573460670	2:32,449,564	G/C	—	uncertain significance
rs1438338245	2:32,449,565	C/T	—	uncertain significance
rs150062306	2:32,449,584	A/C	—	likely benign
rs2466687333	2:32,449,591	T/C	—	uncertain significance
rs374967155	2:32,449,592	C/A	—	uncertain significance
rs372904047	2:32,449,613	G/A	—	uncertain significance
rs1191568410	2:32,449,647	C/T	—	likely benign
rs1558441930	2:32,449,649	C/T	—	uncertain significance
rs949916813	2:32,449,658	G/A	—	uncertain significance
rs552117780	2:32,449,660	T/C	—	conflicting classifications of pathogenicity
rs1573460915	2:32,449,666	A/G	—	uncertain significance
rs2466687826	2:32,449,668	T/G	—	uncertain significance
rs147896952	2:32,449,672	G/T	—	uncertain significance
rs2466687915	2:32,449,678	T/A	—	uncertain significance
rs1472895111	2:32,449,679	C/G	—	uncertain significance
rs775671534	2:32,449,690	T/C	—	uncertain significance
rs373084451	2:32,449,692	T/G	—	uncertain significance
rs945779246	2:32,449,693	T/C	—	uncertain significance
rs2148927438	2:32,449,701	A/G	—	likely benign
rs2466688331	2:32,449,709	A/T	—	uncertain significance
rs2148927448	2:32,449,713	C/G	—	likely benign
rs761511208	2:32,449,717	A/G	—	uncertain significance
rs1384822088	2:32,449,731	C/T	—	likely benign
rs747016637	2:32,449,734	A/G	—	likely benign
rs1316364094	2:32,449,735	A/G	—	uncertain significance
rs147026757	2:32,449,741	C/G	—	uncertain significance
rs754672945	2:32,449,742	C/T	—	uncertain significance
rs1242501096	2:32,449,752	A/C	—	likely benign
rs1407417889	2:32,449,757	A/T	—	uncertain significance
rs201737340	2:32,449,770	C/T	—	likely benign
rs2466688802	2:32,449,771	A/G	—	uncertain significance
rs2148927531	2:32,449,772	C/G	—	uncertain significance
rs367708050	2:32,449,773	A/G	—	likely benign
rs186759526	2:32,449,774	C/T	—	uncertain significance
rs758911792	2:32,449,775	G/A	—	uncertain significance
rs1464438302	2:32,449,782	C/T	—	conflicting classifications of pathogenicity
rs898392491	2:32,449,787	A/C	—	uncertain significance
rs2148927574	2:32,449,789	T/A	—	uncertain significance
rs1686327946	2:32,449,791	C/G	—	uncertain significance
rs2148927586	2:32,449,795	T/C	—	uncertain significance
rs199685258	2:32,449,799	G/A	—	uncertain significance
rs1207835615	2:32,449,813	G/A	—	uncertain significance
rs748341490	2:32,449,815	G/C	—	uncertain significance
rs2466689209	2:32,449,828	A/T	—	uncertain significance
rs61754192	2:32,449,832	C/A	—	likely benign
rs2466689434	2:32,449,847	A/T	—	likely benign
rs200950944	2:32,449,879	T/A	—	benign
rs212714	2:32,460,348	A/G	—	benign
rs199476299	2:32,460,368	A/G	—	not provided
rs199476298	2:32,460,389	G/A	—	not provided
rs199476297	2:32,460,432	C/G	—	not provided
rs2466719323	2:32,460,451	T/C	—	likely benign
rs763792707	2:32,460,452	C/A	—	likely benign
rs375516770	2:32,460,461	T/A	—	likely benign
rs1368779722	2:32,460,480	A/G	—	likely benign
rs2466719479	2:32,460,496	A/T	—	uncertain significance
rs989100389	2:32,460,501	C/A	—	uncertain significance
rs1313800784	2:32,460,502	C/T	—	uncertain significance
rs34716166	2:32,460,512	A/G	—	likely benign
rs778050684	2:32,460,513	C/T	—	likely benign
rs144418059	2:32,460,524	C/T	—	uncertain significance
rs147980356	2:32,460,525	G/A	—	likely benign
rs1686650727	2:32,460,531	T/C	—	likely benign
rs199861054	2:32,460,532	G/A	—	uncertain significance
rs745846903	2:32,460,536	C/T	—	uncertain significance
rs771976249	2:32,460,537	C/T	—	likely benign
rs774924596	2:32,460,538	T/C	—	conflicting classifications of pathogenicity
rs1283568725	2:32,460,539	C/T	—	uncertain significance
rs2466719743	2:32,460,552	C/T	—	likely benign
rs2466719761	2:32,460,561	G/A	—	likely benign
rs1330422567	2:32,460,564	C/T	—	likely benign
rs760231283	2:32,460,565	A/T	—	uncertain significance
rs1686651887	2:32,460,572	C/A	—	uncertain significance
rs2466719809	2:32,460,574	T/C	—	conflicting classifications of pathogenicity
rs753697675	2:32,460,578	C/T	—	uncertain significance
rs761505468	2:32,460,580	T/G	—	uncertain significance
rs2466719848	2:32,460,583	C/T	—	uncertain significance
rs544969923	2:32,460,584	A/T	—	uncertain significance
rs2148933719	2:32,460,587	C/T	—	uncertain significance
rs1686652685	2:32,460,589	C/T	—	uncertain significance
rs760166121	2:32,460,590	A/G	—	uncertain significance
rs2148933725	2:32,460,593	G/T	—	uncertain significance
rs2466719886	2:32,460,594	C/T	—	likely benign
rs1312985006	2:32,460,595	A/C	—	uncertain significance
rs768054051	2:32,460,596	G/C	—	uncertain significance
rs752785896	2:32,460,603	T/C	—	likely benign
rs780229500	2:32,460,605	C/T	—	conflicting classifications of pathogenicity
rs147513575	2:32,460,606	G/A	—	likely benign
rs544474213	2:32,460,621	C/T	—	conflicting classifications of pathogenicity
rs147021864	2:32,460,623	C/T	—	conflicting classifications of pathogenicity
rs145285650	2:32,460,624	G/T	—	likely benign
rs775961328	2:32,460,635	C/T	—	uncertain significance
rs1175991794	2:32,460,636	G/T	—	uncertain significance
rs747839624	2:32,460,637	A/T	—	uncertain significance
rs1553343121	2:32,460,645	A/G	—	likely benign
rs769545282	2:32,460,657	G/T	—	likely benign

Showing 100 of 637 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.