NLRP12

NLR family pyrin domain containing 12

Summary

This gene encodes a member of the CATERPILLER family of cytoplasmic proteins. The encoded protein, which contains an N-terminal pyrin domain, a NACHT domain, a NACHT-associated domain, and a C-terminus leucine-rich repeat region, functions as an attenuating factor of inflammation by suppressing inflammatory responses in activated monocytes. Mutations in this gene cause familial cold autoinflammatory syndrome type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]

Known Variants936 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs199475873	19:54,296,759	G/T	—	not provided
rs544178725	19:54,296,832	T/C	—	likely benign
rs886054602	19:54,296,873	C/T	—	uncertain significance
rs1033153396	19:54,296,880	C/A	—	uncertain significance
rs886054603	19:54,296,901	C/T	—	uncertain significance
rs886054604	19:54,296,908	G/A	—	uncertain significance
rs2091691730	19:54,296,918	A/C	—	uncertain significance
rs562576939	19:54,296,941	C/A	—	likely benign
rs540448720	19:54,296,960	T/C	—	uncertain significance
rs886054605	19:54,297,013	T/G	—	uncertain significance
rs10409778	19:54,297,037	C/A	—	benign
rs188195272	19:54,297,074	C/T	—	benign
rs564145946	19:54,297,098	C/T	—	benign
rs141410784	19:54,297,099	G/A	—	benign
rs116411892	19:54,297,100	A/G	—	benign
rs557195352	19:54,297,109	G/A	—	benign
rs185571043	19:54,297,131	G/A	—	benign
rs370149877	19:54,297,142	T/G	—	uncertain significance
rs199475872	19:54,297,177	C/G	—	uncertain significance
rs143930342	19:54,297,185	C/T	—	benign
rs1255385830	19:54,297,195	A/G	—	uncertain significance
rs10410581	19:54,297,234	G/T	—	benign
rs749121723	19:54,297,304	C/T	—	likely benign
rs1345613811	19:54,297,308	A/C	—	uncertain significance
rs778964105	19:54,297,309	G/A	—	likely benign
rs2514195317	19:54,297,313	A/G	—	uncertain significance
rs1690166860	19:54,297,315	G/T	—	uncertain significance
rs1391833893	19:54,297,321	A/G	—	likely benign
rs1451264761	19:54,297,329	T/C	—	uncertain significance
rs747279509	19:54,297,330	T/C	—	uncertain significance
rs777108086	19:54,297,337	C/G	—	conflicting classifications of pathogenicity
rs199475871	19:54,297,338	G/A	—	uncertain significance
rs2514195770	19:54,297,340	A/T	—	uncertain significance
rs1293965801	19:54,297,341	G/A	—	uncertain significance
rs148506660	19:54,297,342	C/T	—	likely benign
rs146786265	19:54,297,343	G/A	—	conflicting classifications of pathogenicity
rs934460879	19:54,297,353	T/C	—	uncertain significance
rs1280682130	19:54,297,356	T/G	—	uncertain significance
rs143874173	19:54,297,361	G/A	—	uncertain significance
rs1009978100	19:54,297,362	T/C	—	uncertain significance
rs1041427916	19:54,297,364	A/C	—	uncertain significance
rs754830337	19:54,297,380	T/C	—	uncertain significance
rs2122482565	19:54,297,383	C/T	—	uncertain significance
rs1348599488	19:54,297,390	C/A	—	uncertain significance
rs2514196857	19:54,297,409	A/C	—	likely benign
rs758357980	19:54,297,410	T/C	—	likely benign
rs67485804	19:54,297,423	T/C	—	benign
rs6509817	19:54,297,538	G/A	—	benign
rs2042293	19:54,298,907	T/C	—	benign
rs2042294	19:54,298,920	G/A	—	benign
rs75136896	19:54,298,924	A/G	—	benign
rs2042295	19:54,298,975	C/G	—	benign
rs2042296	19:54,299,014	C/T	—	benign
rs1412073330	19:54,299,095	C/G	—	likely benign
rs759265824	19:54,299,096	T/C	—	benign
rs370047032	19:54,299,103	C/G	—	likely benign
rs765100013	19:54,299,107	C/A	—	uncertain significance
rs2091746799	19:54,299,109	T/C	—	uncertain significance
rs2091747039	19:54,299,116	A/G	—	uncertain significance
rs2122504184	19:54,299,119	A/T	—	uncertain significance
rs926548329	19:54,299,121	T/A	—	likely benign
rs751680149	19:54,299,122	C/T	—	conflicting classifications of pathogenicity
rs201619538	19:54,299,123	G/C	—	conflicting classifications of pathogenicity
rs770006186	19:54,299,130	G/A	—	likely benign
rs2514212961	19:54,299,132	A/G	—	uncertain significance
rs1568654178	19:54,299,146	A/C	—	uncertain significance
rs769192403	19:54,299,149	C/T	—	uncertain significance
rs774905024	19:54,299,150	G/A	—	uncertain significance
rs2091748199	19:54,299,159	G/A	—	uncertain significance
rs770437378	19:54,299,164	C/T	—	uncertain significance
rs35064500	19:54,299,165	G/A	—	conflicting classifications of pathogenicity
rs764841108	19:54,299,169	A/G	—	conflicting classifications of pathogenicity
rs538392013	19:54,299,173	G/T	—	uncertain significance
rs1400666519	19:54,299,176	T/A	—	uncertain significance
rs2122504982	19:54,299,181	T/C	—	likely benign
rs1256306834	19:54,299,186	C/A	—	uncertain significance
rs140769141	19:54,299,187	G/T	—	uncertain significance
rs751548505	19:54,299,191	T/C	—	uncertain significance
rs767729913	19:54,299,196	C/T	—	likely benign
rs144746100	19:54,299,207	C/G	—	uncertain significance
rs556001110	19:54,299,208	G/A	—	conflicting classifications of pathogenicity
rs201437704	19:54,299,211	C/G	—	conflicting classifications of pathogenicity
rs1219838859	19:54,299,213	A/C	—	uncertain significance
rs749656368	19:54,299,214	G/C	—	likely benign
rs770386298	19:54,299,219	G/T	—	uncertain significance
rs1334288624	19:54,299,220	G/C	—	uncertain significance
rs2091750724	19:54,299,221	T/A	—	uncertain significance
rs776090826	19:54,299,226	C/T	—	likely benign
rs769476370	19:54,299,230	A/G	—	uncertain significance
rs1369763318	19:54,299,231	G/C	—	uncertain significance
rs151187420	19:54,299,245	T/G	—	uncertain significance
rs369502542	19:54,299,251	C/T	—	conflicting classifications of pathogenicity
rs993368284	19:54,299,257	T/A	—	uncertain significance
rs1487798891	19:54,299,259	G/A	—	likely benign
rs2514215180	19:54,299,263	G/T	—	uncertain significance
rs541622856	19:54,299,273	A/G	—	uncertain significance
rs560028610	19:54,299,279	C/G	—	uncertain significance
rs2122506609	19:54,299,280	C/T	—	uncertain significance
rs980154436	19:54,299,287	G/C	—	uncertain significance
rs1308808624	19:54,299,289	G/A	—	likely benign

Showing 100 of 936 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.