GLDN

gliomedin

Summary

This gene encodes a protein that contains olfactomedin-like and collagen-like domains. The encoded protein, which exists in both transmembrane and secreted forms, promotes formation of the nodes of Ranvier in the peripheral nervous system. Mutations in this gene cause a form of lethal congenital contracture syndrome in human patients. Autoantibodies to the encoded protein have been identified in sera form patients with multifocal motor neuropathy. [provided by RefSeq, May 2017]

Known Variants104 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2445764	15:51,633,517	A/G	—	benign
rs72729210	15:51,633,629	G/A	—	benign
rs1005509426	15:51,633,899	G/A	—	likely benign
rs1595795307	15:51,633,940	T/C	—	likely pathogenic
rs778094534	15:51,633,943	C/A	—	uncertain significance
rs2542740412	15:51,633,960	T/C	—	uncertain significance
rs1016861963	15:51,633,963	G/C	—	likely pathogenic
rs1595795343	15:51,633,967	T/C	—	likely pathogenic
rs2542740464	15:51,633,970	A/C	—	uncertain significance
rs779432560	15:51,633,976	C/G	missense variant	uncertain significance
rs1595795357	15:51,633,983	G/C	—	likely benign
rs139283412	15:51,634,061	C/T	—	benign
rs372335745	15:51,634,068	A/G	—	uncertain significance
rs746324153	15:51,634,090	C/A	—	uncertain significance
rs186935606	15:51,634,150	C/T	—	conflicting classifications of pathogenicity
rs2542741396	15:51,634,165	G/A	—	uncertain significance
rs758917816	15:51,634,167	C/G	—	uncertain significance
rs1250673418	15:51,634,174	G/C	—	uncertain significance
rs764097726	15:51,634,195	G/A	—	uncertain significance
rs369023805	15:51,634,197	G/A	—	uncertain significance
rs766933478	15:51,634,218	A/C	—	uncertain significance
rs556661550	15:51,634,245	G/A	—	uncertain significance
rs749127618	15:51,634,251	G/T	—	likely benign
rs2446421	15:51,634,255	T/G	—	benign
rs11632569	15:51,634,304	G/T	—	benign
rs11632571	15:51,634,312	G/T	—	benign
rs187694166	15:51,634,343	C/A	—	benign
rs1870050	15:51,636,551	A/C	intron variant	—
rs12441073	15:51,644,472	T/A	—	—
rs7175922	15:51,646,737	G/A	upstream gene variant	—
rs12148477	15:51,653,119	A/G	intron variant	—
rs117848155	15:51,669,499	G/C	—	benign
rs17602686	15:51,669,625	C/A	—	benign
rs533812739	15:51,669,658	G/A	—	likely benign
rs200614681	15:51,669,672	C/T	—	likely benign
rs76233942	15:51,669,704	T/C	—	benign
rs16964316	15:51,669,741	G/A	—	benign
rs10162847	15:51,675,501	C/T	—	benign
rs2445738	15:51,675,625	C/T	—	benign
rs2542830908	15:51,675,635	C/T	—	uncertain significance
rs139274338	15:51,675,636	C/T	—	likely benign
rs140063339	15:51,675,988	C/T	—	likely benign
rs200006557	15:51,676,014	A/G	—	uncertain significance
rs138735158	15:51,676,016	C/T	—	benign
rs77970795	15:51,676,020	T/G	—	benign
rs886041057	15:51,676,090	G/A	—	pathogenic
rs2445739	15:51,676,216	T/C	—	benign
rs2168623	15:51,676,232	G/A	—	benign
rs535399335	15:51,684,782	C/T	—	—
rs1327934975	15:51,687,083	A/G	—	uncertain significance
rs1205768828	15:51,687,122	G/A	—	uncertain significance
rs201950809	15:51,687,147	A/G	—	likely benign
rs1482460053	15:51,687,154	G/A	—	uncertain significance
rs377006239	15:51,687,183	G/C	—	likely benign
rs75938739	15:51,687,250	G/A	—	benign
rs10468003	15:51,687,274	T/C	—	benign
rs1147142	15:51,689,624	A/C	—	benign
rs149543159	15:51,689,665	A/G	—	likely pathogenic
rs758677429	15:51,689,669	G/C	—	uncertain significance
rs2038156700	15:51,689,670	C/G	—	uncertain significance
rs375203691	15:51,689,690	C/T	—	uncertain significance
rs774891841	15:51,689,693	G/A	—	uncertain significance
rs749505021	15:51,689,740	A/G	—	likely benign
rs375789151	15:51,689,762	C/T	—	uncertain significance
rs143383924	15:51,689,763	G/A	—	likely benign
rs17648128	15:51,689,772	A/G	—	benign
rs1412227116	15:51,689,796	G/A	—	likely pathogenic
rs72729236	15:51,690,025	T/G	—	—
rs16964341	15:51,692,360	G/T	—	benign
rs148539600	15:51,692,407	C/G	—	likely benign
rs151045681	15:51,692,419	C/T	—	likely benign
rs1490188285	15:51,692,596	C/G	—	uncertain significance
rs199785314	15:51,692,599	G/A	—	uncertain significance
rs2542871261	15:51,692,639	T/A	—	uncertain significance
rs867806350	15:51,692,695	G/A	—	likely pathogenic
rs2038250738	15:51,693,788	A/T	—	likely pathogenic
rs745950479	15:51,693,798	G/A	—	uncertain significance
rs35223886	15:51,693,813	A/G	—	benign
rs776892758	15:51,693,819	C/A	—	uncertain significance
rs376573993	15:51,693,855	C/T	—	likely pathogenic
rs776856952	15:51,693,922	G/A	—	uncertain significance
rs147954907	15:51,693,940	G/A	—	uncertain significance
rs181429600	15:51,696,269	A/G	intron variant	—
rs2459399	15:51,696,422	G/T	—	benign
rs141816048	15:51,696,472	A/G	—	likely pathogenic
rs147089740	15:51,696,509	A/C	—	uncertain significance
rs539703340	15:51,696,535	C/T	stop gained	pathogenic
rs781313856	15:51,696,577	G/C	—	conflicting classifications of pathogenicity
rs775011495	15:51,696,600	G/A	—	pathogenic
rs768312410	15:51,696,608	A/G	—	uncertain significance
rs138258126	15:51,696,611	C/T	—	likely benign
rs1191845674	15:51,696,664	T/C	—	uncertain significance
rs180954449	15:51,696,692	C/T	—	uncertain significance
rs760906296	15:51,696,717	C/T	—	likely benign
rs764239923	15:51,696,718	G/C	missense variant	pathogenic
rs750803388	15:51,696,723	C/A	—	pathogenic
rs368085516	15:51,696,730	C/A	synonymous variant	likely pathogenic
rs199538582	15:51,696,731	G/C	—	likely pathogenic
rs141622986	15:51,696,768	G/A	—	likely benign
rs2542883038	15:51,696,770	T/C	—	uncertain significance

Showing 100 of 104 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.