FLNB

filamin B

Summary

This gene encodes a member of the filamin family. The encoded protein interacts with glycoprotein Ib alpha as part of the process to repair vascular injuries. The platelet glycoprotein Ib complex includes glycoprotein Ib alpha, and it binds the actin cytoskeleton. Mutations in this gene have been found in several conditions: atelosteogenesis type 1 and type 3; boomerang dysplasia; autosomal dominant Larsen syndrome; and spondylocarpotarsal synostosis syndrome. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Nov 2009]

Known Variants1,896 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs115081474	3:57,993,823	T/C	—	likely benign
rs151216641	3:57,993,877	G/A	—	benign
rs140412529	3:57,993,921	C/T	—	benign
rs541297257	3:57,994,015	G/A	—	likely benign
rs1034169316	3:57,994,132	C/G	—	uncertain significance
rs1181702271	3:57,994,147	G/T	—	uncertain significance
rs544100587	3:57,994,161	G/C	—	uncertain significance
rs886058756	3:57,994,185	T/G	—	uncertain significance
rs532390858	3:57,994,189	A/G	—	uncertain significance
rs150348065	3:57,994,195	C/T	—	likely benign
rs528555050	3:57,994,197	C/G	—	likely benign
rs895614197	3:57,994,204	C/A	—	uncertain significance
rs886058757	3:57,994,211	G/C	—	uncertain significance
rs886058758	3:57,994,216	C/A	—	uncertain significance
rs138060096	3:57,994,261	C/T	—	benign
rs2106654616	3:57,994,287	C/T	—	uncertain significance
rs375446981	3:57,994,288	C/T	—	uncertain significance
rs111284847	3:57,994,297	G/A	—	likely benign
rs199846967	3:57,994,300	A/G	—	conflicting classifications of pathogenicity
rs2477192945	3:57,994,353	C/G	—	uncertain significance
rs539469179	3:57,994,354	G/A	—	likely benign
rs770671756	3:57,994,372	C/T	—	likely benign
rs1428809108	3:57,994,374	A/T	—	uncertain significance
rs1481548213	3:57,994,392	A/G	—	uncertain significance
rs142568031	3:57,994,398	G/A	—	conflicting classifications of pathogenicity
rs751263946	3:57,994,409	C/T	—	likely benign
rs143729485	3:57,994,414	G/A	—	likely benign
rs1198656971	3:57,994,415	A/G	—	uncertain significance
rs2097093875	3:57,994,417	C/T	—	likely benign
rs1322262022	3:57,994,437	G/T	—	uncertain significance
rs1260817076	3:57,994,442	A/G	—	uncertain significance
rs780601404	3:57,994,453	C/G	—	likely benign
rs779370264	3:57,994,464	G/T	—	uncertain significance
rs1241394741	3:57,994,472	C/G	—	uncertain significance
rs566615110	3:57,994,475	A/G	—	uncertain significance
rs1378933541	3:57,994,478	T/C	—	uncertain significance
rs2106655440	3:57,994,486	G/A	—	uncertain significance
rs751371914	3:57,994,490	C/T	—	uncertain significance
rs369273712	3:57,994,496	C/T	—	uncertain significance
rs1254928825	3:57,994,503	C/G	—	uncertain significance
rs2477194997	3:57,994,519	G/C	—	uncertain significance
rs750637469	3:57,994,522	C/T	—	likely benign
rs756221503	3:57,994,524	A/G	—	uncertain significance
rs780155723	3:57,994,537	G/C	—	likely benign
rs2097094004	3:57,994,538	G/T	—	uncertain significance
rs112750785	3:57,994,540	G/A	—	benign
rs755518501	3:57,994,556	C/G	—	uncertain significance
rs2106655664	3:57,994,562	A/G	—	uncertain significance
rs2477195459	3:57,994,564	C/T	—	likely benign
rs62622011	3:57,994,565	A/G	—	likely benign
rs2477195521	3:57,994,570	G/A	—	likely benign
rs745493076	3:57,994,573	C/T	—	conflicting classifications of pathogenicity
rs2106655742	3:57,994,580	A/G	—	uncertain significance
rs2477195648	3:57,994,584	G/T	—	likely pathogenic
rs9831243	3:57,994,591	C/A	—	likely benign
rs201148582	3:57,994,595	G/C	—	likely benign
rs200721532	3:57,994,597	C/G	—	likely benign
rs374049637	3:57,994,598	C/T	—	likely benign
rs761661209	3:57,994,599	G/C	—	likely benign
rs903133771	3:57,994,601	G/A	—	likely benign
rs1658338	3:57,994,719	A/T	—	benign
rs114032500	3:57,994,866	G/A	—	likely benign
rs6764184	3:58,006,266	G/C	—	—
rs13073700	3:58,010,456	A/C	—	—
rs9681058	3:58,020,773	G/A	regulatory region variant	—
rs1623879	3:58,027,197	A/G	regulatory region variant	—
rs11130612	3:58,029,016	C/G	—	—
rs56388610	3:58,037,411	G/T	—	—
rs13096731	3:58,049,639	G/A	intron variant	—
rs35503210	3:58,053,409	C/T	intron variant	—
rs6805521	3:58,062,510	A/G	—	benign
rs75423436	3:58,062,611	A/C	—	benign
rs116415095	3:58,062,714	A/T	—	benign
rs959936069	3:58,062,753	G/A	—	likely benign
rs199821588	3:58,062,756	T/G	—	benign
rs1221834016	3:58,062,758	T/G	—	likely benign
rs539335995	3:58,062,759	G/A	—	likely benign
rs2470990436	3:58,062,762	T/G	—	likely benign
rs1207748197	3:58,062,767	C/T	—	likely benign
rs2470990462	3:58,062,773	A/G	—	uncertain significance
rs771943943	3:58,062,797	A/G	—	conflicting classifications of pathogenicity
rs2470990497	3:58,062,803	A/G	—	uncertain significance
rs370232062	3:58,062,804	G/A	—	likely benign
rs1165934410	3:58,062,808	A/C	—	uncertain significance
rs760408504	3:58,062,809	T/G	—	uncertain significance
rs147846832	3:58,062,842	A/T	—	conflicting classifications of pathogenicity
rs2106946532	3:58,062,844	T/G	—	uncertain significance
rs764628343	3:58,062,859	G/A	—	uncertain significance
rs2470990727	3:58,062,890	A/G	—	uncertain significance
rs748857986	3:58,062,899	C/T	—	uncertain significance
rs192491895	3:58,062,900	G/A	—	conflicting classifications of pathogenicity
rs80356493	3:58,062,922	T/A	missense variant	not provided
rs2106946735	3:58,062,933	C/A	—	uncertain significance
rs2106946743	3:58,062,938	T/A	—	uncertain significance
rs2470990842	3:58,062,940	C/T	—	uncertain significance
rs747594015	3:58,062,941	C/T	—	uncertain significance
rs2097202904	3:58,062,952	A/G	—	uncertain significance
rs1025837190	3:58,062,957	C/G	—	likely benign
rs2470990914	3:58,062,958	A/G	—	uncertain significance
rs2097202915	3:58,062,959	A/C	—	uncertain significance

Showing 100 of 1,896 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.