FBN2

fibrillin 2

Summary

The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008]

Known Variants2,760 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs191801589	5:127,593,615	C/T	—	benign
rs1764860915	5:127,593,640	T/C	—	uncertain significance
rs886059882	5:127,593,727	T/G	—	uncertain significance
rs1050687	5:127,593,732	C/T	—	benign
rs886059883	5:127,593,832	G/C	—	uncertain significance
rs7288	5:127,593,870	T/C	—	benign
rs765057642	5:127,593,908	T/C	—	uncertain significance
rs557229598	5:127,593,956	G/A	—	benign
rs77373296	5:127,594,015	T/C	—	benign
rs776542113	5:127,594,029	A/G	—	uncertain significance
rs886059884	5:127,594,036	G/T	—	uncertain significance
rs1764871127	5:127,594,045	C/T	—	uncertain significance
rs375097557	5:127,594,138	T/C	—	uncertain significance
rs565071757	5:127,594,185	G/C	—	benign
rs774452401	5:127,594,268	G/A	—	uncertain significance
rs72783099	5:127,594,328	C/T	—	benign
rs754492977	5:127,594,402	G/C	—	uncertain significance
rs13305	5:127,594,414	A/T	—	benign
rs1581169601	5:127,594,431	T/C	—	uncertain significance
rs1764882009	5:127,594,461	G/A	—	uncertain significance
rs886059886	5:127,594,476	C/T	—	uncertain significance
rs950545343	5:127,594,505	T/C	—	uncertain significance
rs27858	5:127,594,512	T/C	—	benign
rs886059887	5:127,594,590	G/A	—	uncertain significance
rs551470283	5:127,594,633	T/G	—	benign
rs531108136	5:127,594,776	A/C	—	likely benign
rs886059888	5:127,594,863	G/A	—	uncertain significance
rs140550329	5:127,594,873	G/A	—	benign
rs142804569	5:127,594,874	A/G	—	benign
rs886059889	5:127,594,903	A/G	—	uncertain significance
rs375135682	5:127,594,913	A/G	—	likely benign
rs3805618	5:127,595,028	G/A	—	benign
rs886059890	5:127,595,047	T/G	—	uncertain significance
rs2479599645	5:127,595,149	A/C	—	uncertain significance
rs369356700	5:127,595,152	A/G	—	likely benign
rs34383505	5:127,595,153	G/C	—	benign
rs887275019	5:127,595,155	G/T	—	uncertain significance
rs1764904392	5:127,595,157	T/C	—	uncertain significance
rs757052151	5:127,595,181	G/T	—	likely benign
rs1374026282	5:127,595,183	C/T	—	likely benign
rs781069799	5:127,595,185	C/T	—	conflicting classifications of pathogenicity
rs1427401706	5:127,595,191	G/C	—	uncertain significance
rs876661196	5:127,595,194	C/A	—	uncertain significance
rs184109554	5:127,595,195	C/T	—	likely benign
rs1194973560	5:127,595,198	T/C	—	likely benign
rs1468810354	5:127,595,204	G/A	—	likely benign
rs779659640	5:127,595,205	T/C	—	uncertain significance
rs863223615	5:127,595,208	T/A	—	conflicting classifications of pathogenicity
rs748874308	5:127,595,209	C/T	—	likely benign
rs768293070	5:127,595,211	T/C	—	conflicting classifications of pathogenicity
rs557212203	5:127,595,212	C/A	—	conflicting classifications of pathogenicity
rs2479599816	5:127,595,213	C/T	—	likely benign
rs863223581	5:127,595,214	T/C	—	uncertain significance
rs888064842	5:127,595,218	T/C	—	conflicting classifications of pathogenicity
rs771442533	5:127,595,219	G/A	—	likely benign
rs2126791602	5:127,595,220	C/T	—	uncertain significance
rs1243712555	5:127,595,222	C/G	—	likely benign
rs954619149	5:127,595,236	T/G	—	uncertain significance
rs863223614	5:127,595,238	A/G	—	uncertain significance
rs2479599921	5:127,595,240	C/T	—	likely benign
rs765693576	5:127,595,242	C/G	—	conflicting classifications of pathogenicity
rs1475501488	5:127,595,243	C/T	—	likely benign
rs1367710207	5:127,595,247	T/C	—	likely benign
rs1764910408	5:127,595,261	G/T	—	likely benign
rs1554115164	5:127,595,263	T/C	—	uncertain significance
rs1764910944	5:127,595,279	T/C	—	likely benign
rs762956345	5:127,595,280	G/T	—	uncertain significance
rs542824837	5:127,595,285	T/C	—	uncertain significance
rs886038818	5:127,595,289	C/A	—	uncertain significance
rs752201545	5:127,595,290	C/T	—	conflicting classifications of pathogenicity
rs137914321	5:127,595,291	G/A	—	likely benign
rs886038784	5:127,595,297	G/A	—	likely benign
rs756115089	5:127,595,299	G/A	—	likely benign
rs1312384885	5:127,595,301	T/G	—	likely benign
rs143390521	5:127,595,302	T/G	—	likely benign
rs573245869	5:127,595,312	C/T	—	likely benign
rs754475064	5:127,595,313	G/A	—	conflicting classifications of pathogenicity
rs778576181	5:127,595,327	G/A	—	likely benign
rs372839477	5:127,595,329	G/A	—	conflicting classifications of pathogenicity
rs757674788	5:127,595,330	C/T	—	benign
rs886059891	5:127,595,334	T/C	—	uncertain significance
rs1561733846	5:127,595,339	T/C	—	uncertain significance
rs2479600381	5:127,595,341	G/C	—	uncertain significance
rs2479600387	5:127,595,342	G/A	—	likely benign
rs1291203524	5:127,595,343	T/C	—	likely benign
rs62374973	5:127,595,345	G/C	—	uncertain significance
rs545430177	5:127,595,348	G/A	—	benign
rs200345491	5:127,595,349	C/A	—	conflicting classifications of pathogenicity
rs775873383	5:127,595,350	G/A	—	conflicting classifications of pathogenicity
rs147134796	5:127,595,356	C/T	—	conflicting classifications of pathogenicity
rs140437100	5:127,595,357	G/T	—	uncertain significance
rs1764914190	5:127,595,359	T/C	—	uncertain significance
rs779172018	5:127,595,365	C/T	—	uncertain significance
rs139098335	5:127,595,366	G/C	—	conflicting classifications of pathogenicity
rs1764914519	5:127,595,369	C/G	—	likely benign
rs772928933	5:127,595,373	T/C	—	conflicting classifications of pathogenicity
rs1764914729	5:127,595,378	G/A	—	likely benign
rs1249852107	5:127,595,380	T/C	—	uncertain significance
rs2479600634	5:127,595,387	A/C	—	likely benign
rs753753954	5:127,595,388	C/T	—	conflicting classifications of pathogenicity

Showing 100 of 2,760 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.