GSN

gelsolin

Summary

The protein encoded by this gene binds to the "plus" ends of actin monomers and filaments to prevent monomer exchange. The encoded calcium-regulated protein functions in both assembly and disassembly of actin filaments. Defects in this gene are a cause of familial amyloidosis Finnish type (FAF). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants625 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs192312613	9:123,985,175	G/A	—	—
rs557627048	9:123,996,040	C/G	—	—
rs10818524	9:124,030,179	T/C	regulatory region variant	—
rs145775883	9:124,044,748	C/T	—	likely benign
rs3810942	9:124,044,995	C/T	—	benign
rs117965336	9:124,048,128	T/C	—	benign
rs12683459	9:124,048,298	G/A	—	benign
rs12343736	9:124,048,461	T/C	—	benign
rs114410565	9:124,048,464	G/T	—	likely benign
rs75481621	9:124,048,621	A/G	—	benign
rs1356099374	9:124,049,025	A/T	—	uncertain significance
rs4836845	9:124,049,956	T/C	—	—
rs1078305	9:124,051,400	A/G	regulatory region variant	—
rs75473525	9:124,061,835	C/T	—	benign
rs10760172	9:124,061,902	C/T	—	benign
rs6478506	9:124,061,963	G/A	—	benign
rs886063404	9:124,062,104	C/T	—	uncertain significance
rs1343918727	9:124,062,140	A/G	—	uncertain significance
rs1184835172	9:124,062,147	C/T	—	uncertain significance
rs1463497694	9:124,062,150	A/C	—	uncertain significance
rs2059610523	9:124,062,151	C/G	—	uncertain significance
rs749593959	9:124,062,153	G/T	—	uncertain significance
rs770905678	9:124,062,157	C/T	—	likely benign
rs1245547667	9:124,062,159	C/T	—	uncertain significance
rs935992317	9:124,062,164	G/A	—	uncertain significance
rs1348526584	9:124,062,169	G/T	—	likely benign
rs1199158051	9:124,062,173	T/G	—	conflicting classifications of pathogenicity
rs939586966	9:124,062,177	C/T	—	uncertain significance
rs2540474592	9:124,062,180	T/C	—	uncertain significance
rs1285468090	9:124,062,182	T/C	—	uncertain significance
rs1055331867	9:124,062,189	C/T	—	uncertain significance
rs1306972736	9:124,062,195	G/A	—	uncertain significance
rs772098788	9:124,062,197	G/A	—	uncertain significance
rs1202263036	9:124,062,198	C/G	—	uncertain significance
rs537300940	9:124,062,202	G/C	—	likely benign
rs2540476030	9:124,062,206	C/T	—	likely benign
rs561626336	9:124,062,211	C/T	—	likely benign
rs1048849212	9:124,062,215	C/T	—	uncertain significance
rs1462234420	9:124,062,216	G/T	—	uncertain significance
rs2540476796	9:124,062,218	G/T	—	uncertain significance
rs886063405	9:124,062,220	G/A	—	conflicting classifications of pathogenicity
rs1326201471	9:124,062,229	G/A	—	likely benign
rs2133143007	9:124,062,231	C/T	—	uncertain significance
rs1588927045	9:124,062,232	G/A	—	likely benign
rs2540477784	9:124,062,235	G/A	—	likely benign
rs2133143627	9:124,062,240	C/T	—	uncertain significance
rs369326886	9:124,062,241	G/T	—	benign
rs753425599	9:124,062,250	G/A	—	likely benign
rs1210058398	9:124,062,251	G/T	—	uncertain significance
rs761582266	9:124,062,254	G/A	—	uncertain significance
rs1445044902	9:124,062,255	C/T	—	uncertain significance
rs2540478816	9:124,062,256	G/A	—	likely benign
rs764629393	9:124,062,258	C/T	—	uncertain significance
rs372837702	9:124,062,274	C/T	—	likely benign
rs2540480023	9:124,062,277	G/A	—	likely benign
rs376281622	9:124,062,279	C/A	—	likely benign
rs771227467	9:124,062,282	G/T	—	uncertain significance
rs772288409	9:124,062,290	G/T	—	likely benign
rs1564470066	9:124,062,293	C/T	—	likely benign
rs1022356838	9:124,062,294	G/A	—	likely benign
rs2133147114	9:124,062,297	G/A	—	likely benign
rs568885924	9:124,062,298	G/A	—	likely benign
rs1268467289	9:124,062,299	G/A	—	likely benign
rs373180886	9:124,062,405	G/T	—	uncertain significance
rs75699106	9:124,064,056	C/G	—	benign
rs751845382	9:124,064,227	C/G	—	likely benign
rs150353588	9:124,064,243	C/G	—	likely benign
rs2059919681	9:124,064,246	C/G	—	uncertain significance
rs777717306	9:124,064,248	G/A	—	uncertain significance
rs2059920388	9:124,064,254	T/C	—	uncertain significance
rs138068754	9:124,064,256	G/T	—	conflicting classifications of pathogenicity
rs778466648	9:124,064,264	C/T	—	likely benign
rs771601417	9:124,064,267	C/T	—	likely benign
rs143781307	9:124,064,268	G/A	—	uncertain significance
rs1564478641	9:124,064,276	C/T	—	likely benign
rs115224458	9:124,064,278	A/G	—	benign
rs1564478729	9:124,064,279	G/A	—	likely benign
rs770387509	9:124,064,282	A/G	—	likely benign
rs2059925191	9:124,064,292	C/T	—	uncertain significance
rs373791435	9:124,064,310	C/T	—	conflicting classifications of pathogenicity
rs766916675	9:124,064,311	G/A	—	uncertain significance
rs2059927364	9:124,064,315	G/A	—	likely benign
rs1023047095	9:124,064,318	G/A	—	likely benign
rs149415778	9:124,064,324	C/T	—	likely benign
rs752677417	9:124,064,325	G/A	—	uncertain significance
rs1487723595	9:124,064,329	T/C	—	uncertain significance
rs757046360	9:124,064,336	C/T	—	conflicting classifications of pathogenicity
rs376961112	9:124,064,337	G/A	—	uncertain significance
rs778740783	9:124,064,338	T/G	—	uncertain significance
rs201642174	9:124,064,339	G/T	—	likely benign
rs758028847	9:124,064,347	A/C	—	uncertain significance
rs144219139	9:124,064,359	A/C	—	uncertain significance
rs2059934416	9:124,064,361	T/C	—	uncertain significance
rs374052802	9:124,064,366	C/T	—	likely benign
rs749868096	9:124,064,368	C/T	—	uncertain significance
rs771399515	9:124,064,369	G/A	—	likely benign
rs774617795	9:124,064,372	C/T	—	likely benign
rs200027070	9:124,064,375	C/T	—	likely benign
rs148748121	9:124,064,376	G/A	—	uncertain significance
rs1399829665	9:124,064,380	A/G	—	uncertain significance

Showing 100 of 625 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.