DYSF

dysferlin

Summary

The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]

Known Variants3,152 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs13384155	2:71,679,705	T/C	regulatory region variant	—
rs6546693	2:71,680,632	T/C	—	benign
rs535087290	2:71,680,802	G/T	—	conflicting classifications of pathogenicity
rs1477070599	2:71,680,851	G/C	—	uncertain significance
rs1573204708	2:71,680,855	T/G	—	uncertain significance
rs956974768	2:71,680,890	C/G	—	uncertain significance
rs571787761	2:71,680,920	G/A	—	likely benign
rs6741336	2:71,680,950	C/A	—	benign
rs758686196	2:71,681,079	T/A	—	likely benign
rs199569685	2:71,681,085	C/T	—	likely benign
rs192358316	2:71,681,095	G/T	—	benign
rs1553495883	2:71,681,117	C/G	—	likely benign
rs1558905040	2:71,681,122	G/A	—	uncertain significance
rs1259378167	2:71,681,129	A/G	—	likely pathogenic
rs1459713589	2:71,681,130	T/C	—	pathogenic
rs772536111	2:71,681,132	C/T	—	conflicting classifications of pathogenicity
rs886043856	2:71,681,136	G/A	—	uncertain significance
rs2152620707	2:71,681,137	G/C	—	uncertain significance
rs760262472	2:71,681,139	T/G	—	uncertain significance
rs1354334539	2:71,681,145	T/A	—	uncertain significance
rs2080944093	2:71,681,146	C/T	—	likely benign
rs1373048381	2:71,681,147	C/T	—	uncertain significance
rs2080944372	2:71,681,149	C/T	—	likely benign
rs2080944539	2:71,681,152	T/G	—	pathogenic
rs887165313	2:71,681,153	G/A	—	uncertain significance
rs771520271	2:71,681,155	C/G	—	likely benign
rs2080944921	2:71,681,158	G/A	—	likely benign
rs760168438	2:71,681,161	C/G	—	uncertain significance
rs2466863357	2:71,681,162	G/T	—	uncertain significance
rs2466863373	2:71,681,164	C/T	—	likely benign
rs1005614411	2:71,681,167	C/T	—	likely benign
rs1017462889	2:71,681,170	A/G	—	likely benign
rs2466863512	2:71,681,173	C/T	—	likely benign
rs140603487	2:71,681,174	G/C	—	conflicting classifications of pathogenicity
rs2080945647	2:71,681,177	A/G	—	uncertain significance
rs763030202	2:71,681,179	C/T	—	likely benign
rs2152620814	2:71,681,191	T/C	—	likely benign
rs2466863809	2:71,681,194	C/A	—	likely benign
rs751600627	2:71,681,196	A/G	—	uncertain significance
rs2080946956	2:71,681,200	C/T	—	likely benign
rs375772222	2:71,681,203	C/T	—	likely benign
rs1261407949	2:71,681,212	T/C	—	likely benign
rs767637508	2:71,681,216	G/C	—	uncertain significance
rs2466864021	2:71,681,217	G/A	—	likely pathogenic
rs1427806637	2:71,681,226	G/T	—	uncertain significance
rs2466864152	2:71,681,227	C/T	—	likely benign
rs555711336	2:71,681,228	C/G	—	likely benign
rs2466864195	2:71,681,229	G/A	—	likely benign
rs2466864214	2:71,681,231	C/A	—	likely benign
rs2466864259	2:71,681,235	C/T	—	likely benign
rs747986054	2:71,681,236	C/T	—	likely benign
rs187461247	2:71,685,612	T/A	regulatory region variant	—
rs112493246	2:71,686,626	G/C	intron variant	—
rs56988800	2:71,688,118	C/A	regulatory region variant	—
rs138529893	2:71,688,616	G/A	intron variant	—
rs6752164	2:71,693,653	C/T	—	benign
rs113038592	2:71,693,673	C/A	—	benign
rs185114751	2:71,693,699	C/A	—	likely benign
rs72896830	2:71,693,703	C/A	—	benign
rs58981291	2:71,693,805	T/C	—	benign
rs112901379	2:71,693,822	A/C	—	likely benign
rs6752632	2:71,693,845	G/A	—	benign
rs61333801	2:71,693,943	G/A	—	benign
rs972675695	2:71,694,017	G/A	—	likely benign
rs931174858	2:71,694,027	C/T	—	uncertain significance
rs71416709	2:71,694,113	T/C	—	benign
rs61322674	2:71,694,343	A/G	—	benign
rs11900174	2:71,707,721	A/T	—	likely benign
rs2467167578	2:71,707,993	C/T	—	likely benign
rs1553508169	2:71,707,994	C/T	—	likely benign
rs1421990252	2:71,707,995	C/G	—	likely benign
rs767741975	2:71,707,996	T/G	—	likely benign
rs773206877	2:71,708,000	G/T	—	likely benign
rs2467167776	2:71,708,001	T/C	—	likely benign
rs1334352542	2:71,708,002	G/A	—	likely benign
rs2152680440	2:71,708,004	C/T	—	likely benign
rs760837078	2:71,708,008	T/C	—	likely benign
rs1449269717	2:71,708,009	G/A	—	likely benign
rs367833503	2:71,708,010	T/C	—	conflicting classifications of pathogenicity
rs786205524	2:71,708,012	G/A	—	pathogenic
rs2152680463	2:71,708,014	G/C	—	likely benign
rs539484245	2:71,708,019	A/C	—	conflicting classifications of pathogenicity
rs985470984	2:71,708,027	A/T	—	uncertain significance
rs749854198	2:71,708,029	C/A	—	likely benign
rs2082828360	2:71,708,030	A/G	—	uncertain significance
rs1316230143	2:71,708,032	A/G	—	likely benign
rs963586500	2:71,708,035	C/A	—	likely benign
rs2082829594	2:71,708,039	A/T	—	likely pathogenic
rs2082829925	2:71,708,041	G/A	—	likely benign
rs911341473	2:71,708,042	A/T	—	uncertain significance
rs369755508	2:71,708,047	C/T	—	likely benign
rs374203339	2:71,708,048	G/A	—	conflicting classifications of pathogenicity
rs199772109	2:71,708,049	T/G	—	uncertain significance
rs2152680557	2:71,708,050	G/A	—	likely benign
rs1478546068	2:71,708,052	A/C	—	uncertain significance
rs772240035	2:71,708,053	C/A	—	conflicting classifications of pathogenicity
rs773503180	2:71,708,055	C/T	—	uncertain significance
rs886043852	2:71,708,056	T/C	—	conflicting classifications of pathogenicity
rs2467168740	2:71,708,059	A/G	—	likely benign
rs2082832384	2:71,708,060	T/C	—	likely pathogenic

Showing 100 of 3,152 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.