FLNA

filamin A

Summary

The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins. The encoded protein is involved in remodeling the cytoskeleton to effect changes in cell shape and migration. This protein interacts with integrins, transmembrane receptor complexes, and second messengers. Defects in this gene are a cause of several syndromes, including periventricular nodular heterotopias (PVNH1, PVNH4), otopalatodigital syndromes (OPD1, OPD2), frontometaphyseal dysplasia (FMD), Melnick-Needles syndrome (MNS), and X-linked congenital idiopathic intestinal pseudoobstruction (CIIPX). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]

Known Variants2,745 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs139999810	X:153,576,961	G/C	—	likely benign
rs149379012	X:153,577,100	G/A	—	benign
rs55760624	X:153,577,129	G/A	—	likely benign
rs782243311	X:153,577,133	T/G	—	benign
rs1393035586	X:153,577,206	G/A	—	uncertain significance
rs863223636	X:153,577,219	—	—	pathogenic
rs2522710851	X:153,577,220	G/A	—	likely benign
rs2067594949	X:153,577,223	C/A	—	likely benign
rs2522710872	X:153,577,226	C/T	—	likely benign
rs1557175101	X:153,577,231	C/G	—	likely pathogenic
rs782493799	X:153,577,232	G/A	—	likely benign
rs782641074	X:153,577,233	C/G	—	uncertain significance
rs200836471	X:153,577,234	G/A	—	conflicting classifications of pathogenicity
rs1557175110	X:153,577,242	C/A	—	uncertain significance
rs2522711004	X:153,577,248	G/A	—	uncertain significance
rs781912776	X:153,577,253	G/A	—	likely benign
rs369717556	X:153,577,258	C/T	—	conflicting classifications of pathogenicity
rs372375216	X:153,577,259	G/A	—	likely benign
rs782341270	X:153,577,261	C/T	—	uncertain significance
rs2522711052	X:153,577,262	C/T	—	likely benign
rs398122812	X:153,577,265	C/G	missense variant	uncertain significance
rs2522711071	X:153,577,266	C/A	—	uncertain significance
rs376783033	X:153,577,274	C/T	—	likely benign
rs782573110	X:153,577,281	G/C	—	benign
rs782774918	X:153,577,283	G/A	—	conflicting classifications of pathogenicity
rs2067595905	X:153,577,286	C/T	—	likely benign
rs1557175147	X:153,577,290	C/G	—	uncertain significance
rs1557175149	X:153,577,292	C/T	—	likely benign
rs782302420	X:153,577,299	T/C	—	benign
rs1308520095	X:153,577,301	G/T	—	likely benign
rs2148099708	X:153,577,304	C/T	—	likely benign
rs782691688	X:153,577,313	C/G	—	likely benign
rs782411364	X:153,577,314	A/G	—	uncertain significance
rs369791082	X:153,577,315	C/T	—	uncertain significance
rs929704371	X:153,577,318	T/C	—	uncertain significance
rs781804897	X:153,577,324	G/C	—	likely benign
rs782087483	X:153,577,325	C/T	—	likely benign
rs200883457	X:153,577,326	C/T	—	likely benign
rs781864075	X:153,577,327	G/A	—	conflicting classifications of pathogenicity
rs782530835	X:153,577,337	G/A	—	likely benign
rs781993962	X:153,577,339	G/A	—	benign
rs1603358271	X:153,577,349	G/A	—	likely benign
rs781783590	X:153,577,358	G/A	—	likely benign
rs1060500721	X:153,577,359	C/T	—	uncertain significance
rs377322094	X:153,577,363	G/T	—	likely benign
rs782593788	X:153,577,365	G/T	—	conflicting classifications of pathogenicity
rs782372740	X:153,577,367	C/T	—	conflicting classifications of pathogenicity
rs1557175190	X:153,577,368	C/T	—	uncertain significance
rs2522711459	X:153,577,372	G/A	—	uncertain significance
rs1603358284	X:153,577,377	T/G	—	uncertain significance
rs2067597052	X:153,577,382	C/A	—	likely benign
rs369380495	X:153,577,385	C/T	—	uncertain significance
rs2148099840	X:153,577,386	A/C	—	uncertain significance
rs2148099849	X:153,577,395	A/G	—	uncertain significance
rs373679124	X:153,577,400	G/T	—	uncertain significance
rs797044496	X:153,577,405	C/G	—	pathogenic
rs2522711527	X:153,577,409	G/C	—	likely benign
rs2522711557	X:153,577,419	G/A	—	likely benign
rs1057522350	X:153,577,420	T/A	—	likely benign
rs1257293909	X:153,577,424	C/G	—	likely benign
rs782395246	X:153,577,710	C/T	—	likely benign
rs781867343	X:153,577,711	G/A	—	likely benign
rs782686474	X:153,577,718	C/T	—	likely benign
rs7063300	X:153,577,719	G/A	—	benign
rs201663443	X:153,577,722	T/C	—	likely benign
rs1167714408	X:153,577,724	G/T	—	uncertain significance
rs111243479	X:153,577,728	A/T	—	pathogenic
rs1557175261	X:153,577,733	C/T	—	uncertain significance
rs2522712560	X:153,577,747	A/G	—	uncertain significance
rs377518545	X:153,577,748	C/T	—	conflicting classifications of pathogenicity
rs2522712579	X:153,577,754	A/G	—	likely pathogenic
rs782375435	X:153,577,761	C/T	—	likely benign
rs2522712617	X:153,577,766	G/T	—	uncertain significance
rs782006629	X:153,577,771	A/G	—	likely benign
rs782291033	X:153,577,772	C/T	—	likely benign
rs782308141	X:153,577,773	G/A	—	likely benign
rs782709737	X:153,577,776	G/C	—	likely benign
rs1057522834	X:153,577,791	C/T	—	likely benign
rs76337075	X:153,577,800	G/A	—	benign
rs1603358390	X:153,577,807	A/G	—	uncertain significance
rs2070815	X:153,577,809	C/T	—	likely benign
rs398123624	X:153,577,815	G/A	—	conflicting classifications of pathogenicity
rs782784577	X:153,577,818	G/A	—	likely benign
rs2148100398	X:153,577,821	A/G	—	likely benign
rs2522712874	X:153,577,822	G/A	—	uncertain significance
rs1060500720	X:153,577,826	G/T	—	uncertain significance
rs909656307	X:153,577,827	C/G	—	likely benign
rs367666924	X:153,577,830	A/T	—	likely benign
rs1334045176	X:153,577,831	G/A	—	likely benign
rs1557175281	X:153,577,833	A/C	—	likely benign
rs1557175285	X:153,577,835	C/G	—	benign
rs781905890	X:153,577,836	C/T	—	likely benign
rs371724771	X:153,577,837	G/A	—	conflicting classifications of pathogenicity
rs1557175287	X:153,577,841	C/A	—	conflicting classifications of pathogenicity
rs2067601627	X:153,577,842	C/T	—	likely benign
rs1057520770	X:153,577,849	T/C	—	conflicting classifications of pathogenicity
rs2522713003	X:153,577,850	G/A	—	pathogenic
rs1377674951	X:153,577,852	G/A	—	uncertain significance
rs1557175294	X:153,577,853	G/C	—	benign
rs2067601784	X:153,577,855	G/T	—	uncertain significance

Showing 100 of 2,745 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.