DYM

dymeclin

Summary

This gene encodes a protein which regulates Golgi-associated secretory pathways that are essential to endochondral bone formation during early development. This gene is also believed to play a role in early brain development. This gene is widely expressed in embryos and is particularly abundant in chodrocytes and brain tissues. It encodes a peripheral membrane protein which shuttles between the cytosol and Golgi complex. Mutations in this gene are associated with two types of recessive osteochondrodysplasia: Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia. [provided by RefSeq, Jun 2017]

Known Variants343 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1288812	18:46,567,481	T/C	downstream gene variant	—
rs886053843	18:46,570,302	C/T	—	uncertain significance
rs113500346	18:46,570,403	C/T	—	likely benign
rs45452499	18:46,570,413	A/G	—	uncertain significance
rs201928717	18:46,570,428	G/A	—	likely benign
rs780336634	18:46,570,430	C/T	—	uncertain significance
rs892140659	18:46,570,431	G/A	—	likely benign
rs528865224	18:46,570,436	C/A	—	uncertain significance
rs772514587	18:46,570,471	T/G	—	likely benign
rs773386034	18:46,570,478	C/T	—	uncertain significance
rs1228907678	18:46,570,485	T/C	—	likely benign
rs373518434	18:46,570,489	T/C	—	uncertain significance
rs771418522	18:46,570,492	T/C	—	uncertain significance
rs984902706	18:46,570,509	A/G	—	likely benign
rs752418475	18:46,570,510	T/C	—	uncertain significance
rs2512322158	18:46,570,512	G/T	—	likely benign
rs757286463	18:46,570,547	C/T	—	uncertain significance
rs2071164208	18:46,570,579	A/G	—	conflicting classifications of pathogenicity
rs75309715	18:46,570,604	C/T	—	benign
rs895669	18:46,570,662	C/T	—	benign
rs45588531	18:46,570,704	A/G	—	benign
rs895670	18:46,570,872	C/G	—	benign
rs74489351	18:46,578,242	C/A	upstream gene variant	—
rs357894	18:46,579,970	C/G	—	—
rs16950303	18:46,582,359	A/G	regulatory region variant	—
rs357900	18:46,585,235	T/G	—	—
rs357901	18:46,585,821	A/T	intron variant	—
rs1787200	18:46,587,654	G/A	intron variant	—
rs3764483	18:46,589,624	A/G	intron variant	—
rs357857	18:46,593,766	A/G	—	—
rs11664336	18:46,604,851	A/T	intron variant	—
rs2584758	18:46,605,775	T/A	regulatory region variant	—
rs575826837	18:46,606,782	G/A	—	—
rs833497	18:46,608,260	T/C	intron variant	—
rs33973388	18:46,611,842	G/C	—	—
rs55831752	18:46,614,186	T/C	intron variant	—
rs786205511	18:46,623,771	C/T	—	pathogenic
rs2513345592	18:46,623,776	A/G	—	uncertain significance
rs757641481	18:46,623,777	G/A	—	likely benign
rs142608802	18:46,623,780	T/C	—	uncertain significance
rs2513346305	18:46,623,789	G/A	—	uncertain significance
rs201477312	18:46,623,794	G/A	—	uncertain significance
rs773893296	18:46,623,799	G/A	—	likely benign
rs370290857	18:46,623,802	G/A	—	conflicting classifications of pathogenicity
rs2513347147	18:46,623,811	A/G	—	likely benign
rs752865908	18:46,623,816	T/C	—	uncertain significance
rs201023000	18:46,623,820	C/T	—	conflicting classifications of pathogenicity
rs1432375693	18:46,623,827	C/T	—	uncertain significance
rs781551662	18:46,623,828	G/A	—	uncertain significance
rs371247672	18:46,623,845	G/A	—	uncertain significance
rs146000214	18:46,623,854	T/C	—	conflicting classifications of pathogenicity
rs151034190	18:46,623,873	A/G	—	conflicting classifications of pathogenicity
rs141363417	18:46,623,875	A/G	—	uncertain significance
rs60818038	18:46,623,883	C/G	—	likely benign
rs1222884951	18:46,623,895	A/G	—	likely benign
rs764087116	18:46,623,900	G/A	—	likely benign
rs528885787	18:46,631,779	C/T	—	—
rs112638217	18:46,632,188	T/C	intron variant	—
rs549509357	18:46,633,116	T/C	—	—
rs1103804	18:46,636,411	A/G	intron variant	—
rs698610	18:46,637,564	T/A	—	—
rs73441521	18:46,643,329	T/C	—	—
rs147083343	18:46,645,105	T/C	—	likely benign
rs1316990533	18:46,645,112	A/G	—	likely pathogenic
rs766663061	18:46,645,115	A/C	—	uncertain significance
rs371724364	18:46,645,141	A/C	—	uncertain significance
rs1184458712	18:46,645,148	G/C	—	uncertain significance
rs2513838968	18:46,645,155	T/C	—	uncertain significance
rs138427861	18:46,645,157	C/T	—	conflicting classifications of pathogenicity
rs756877451	18:46,645,158	G/A	—	conflicting classifications of pathogenicity
rs769667648	18:46,645,176	C/T	—	uncertain significance
rs760860800	18:46,645,194	C/T	—	uncertain significance
rs794727149	18:46,645,198	T/C	—	uncertain significance
rs759926355	18:46,645,216	G/A	—	likely benign
rs758909099	18:46,645,233	G/A	—	likely benign
rs120074165	18:46,645,236	A/G	missense variant	pathogenic
rs193921113	18:46,645,246	G/C	—	uncertain significance
rs763711920	18:46,645,249	C/T	—	likely benign
rs780873164	18:46,645,263	G/A	—	pathogenic
rs549366750	18:46,645,285	T/C	—	likely benign
rs748033974	18:46,645,296	C/A	—	uncertain significance
rs2145988239	18:46,645,297	C/T	—	likely pathogenic
rs755930952	18:46,645,301	T/C	—	likely benign
rs7240784	18:46,645,374	C/G	—	benign
rs8096411	18:46,654,279	C/T	—	—
rs116843086	18:46,684,630	A/G	intron variant	—
rs7231453	18:46,689,877	A/G	—	benign
rs2087482291	18:46,690,053	A/G	—	pathogenic
rs2514904690	18:46,690,056	T/A	—	uncertain significance
rs145279594	18:46,690,066	G/A	—	conflicting classifications of pathogenicity
rs781066600	18:46,690,089	G/A	—	uncertain significance
rs1442463133	18:46,690,091	A/C	—	likely benign
rs770130369	18:46,690,105	G/A	—	pathogenic
rs763380940	18:46,690,114	G/A	stop gained	pathogenic
rs1391867168	18:46,690,124	T/C	—	likely benign
rs367818401	18:46,690,129	T/C	—	uncertain significance
rs2087501886	18:46,690,158	C/A	—	likely pathogenic
rs2514909662	18:46,690,159	T/C	—	likely pathogenic
rs374658638	18:46,690,165	A/C	—	conflicting classifications of pathogenicity
rs78846435	18:46,690,460	G/A	—	benign

Showing 100 of 343 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.