MATN3

matrilin 3

Summary

This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains two von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008]

Known Variants237 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs901185703	2:20,191,828	T/G	—	uncertain significance
rs1333953203	2:20,191,876	T/C	—	uncertain significance
rs1672769474	2:20,191,883	G/C	—	uncertain significance
rs1378496398	2:20,191,917	C/T	—	uncertain significance
rs190300120	2:20,192,113	G/A	—	benign
rs1169276721	2:20,192,123	A/C	—	uncertain significance
rs766531074	2:20,192,212	C/T	—	uncertain significance
rs1301097731	2:20,192,560	A/T	—	uncertain significance
rs745939353	2:20,192,661	T/G	—	uncertain significance
rs1188181385	2:20,192,720	T/A	—	uncertain significance
rs1483047682	2:20,192,798	C/T	—	uncertain significance
rs751281546	2:20,192,828	G/C	—	uncertain significance
rs370798785	2:20,192,877	G/A	—	uncertain significance
rs2103477565	2:20,192,894	T/A	—	uncertain significance
rs138400723	2:20,192,921	T/G	—	conflicting classifications of pathogenicity
rs778345843	2:20,192,935	G/A	—	uncertain significance
rs55919320	2:20,193,826	G/A	—	benign
rs3820949	2:20,194,036	G/C	—	benign
rs2527683291	2:20,194,047	C/T	—	likely benign
rs764727429	2:20,194,058	A/G	—	uncertain significance
rs983174463	2:20,194,071	A/C	—	uncertain significance
rs368657984	2:20,194,085	C/T	—	benign
rs771396147	2:20,194,086	G/A	—	uncertain significance
rs773883750	2:20,194,092	A/T	—	conflicting classifications of pathogenicity
rs1349706725	2:20,194,097	G/A	—	likely benign
rs1672819904	2:20,194,108	C/T	—	uncertain significance
rs763850212	2:20,194,131	G/C	—	uncertain significance
rs765225262	2:20,194,138	C/T	—	uncertain significance
rs371946052	2:20,194,141	T/C	—	uncertain significance
rs2527683652	2:20,194,150	G/T	—	uncertain significance
rs932819226	2:20,194,155	C/T	—	uncertain significance
rs755049041	2:20,194,156	G/A	—	uncertain significance
rs143711983	2:20,194,186	G/A	—	benign
rs148610489	2:20,194,665	C/T	upstream gene variant	—
rs749669494	2:20,196,899	A/C	—	uncertain significance
rs376487878	2:20,196,904	T/C	—	uncertain significance
rs369897262	2:20,196,959	G/A	—	likely benign
rs762839923	2:20,196,970	T/C	—	uncertain significance
rs766299841	2:20,196,971	C/A	—	likely benign
rs752742875	2:20,196,980	G/A	—	likely benign
rs760753512	2:20,196,997	A/T	—	conflicting classifications of pathogenicity
rs2527687466	2:20,197,013	G/C	—	uncertain significance
rs200780340	2:20,197,017	C/T	—	likely benign
rs146599945	2:20,197,018	G/A	—	likely benign
rs779296819	2:20,197,026	C/T	—	uncertain significance
rs149849256	2:20,197,030	C/T	—	benign
rs768145899	2:20,197,033	G/A	—	likely benign
rs888368404	2:20,197,034	G/A	—	likely benign
rs10178256	2:20,198,066	G/A	intron variant	—
rs1167941143	2:20,200,218	A/G	—	likely benign
rs755424873	2:20,200,248	T/A	—	uncertain significance
rs370138146	2:20,200,254	A/G	—	likely benign
rs747623605	2:20,200,256	G/T	—	uncertain significance
rs2103481401	2:20,200,265	C/G	—	uncertain significance
rs150154167	2:20,200,274	C/A	—	likely benign
rs774005769	2:20,200,285	A/G	—	uncertain significance
rs201458413	2:20,200,287	G/T	—	conflicting classifications of pathogenicity
rs2527692756	2:20,200,289	G/T	—	uncertain significance
rs1185587845	2:20,200,298	C/T	—	uncertain significance
rs745766346	2:20,200,305	A/G	—	conflicting classifications of pathogenicity
rs1672965288	2:20,200,334	A/G	—	likely benign
rs6734005	2:20,201,458	G/A	—	benign
rs1672992049	2:20,201,706	C/A	—	likely benign
rs142441838	2:20,201,710	A/G	—	uncertain significance
rs778811287	2:20,201,711	C/T	—	uncertain significance
rs745606215	2:20,201,738	A/G	—	likely benign
rs2527694846	2:20,201,740	T/C	—	uncertain significance
rs1572383491	2:20,201,743	A/T	—	uncertain significance
rs1672993167	2:20,201,752	C/T	—	uncertain significance
rs1350132335	2:20,201,777	G/A	—	likely benign
rs372565565	2:20,201,786	G/A	—	likely benign
rs188801722	2:20,201,789	A/G	—	likely benign
rs753326503	2:20,201,796	C/G	—	uncertain significance
rs2527695088	2:20,201,807	A/G	—	likely benign
rs368983587	2:20,201,812	C/T	—	uncertain significance
rs77146641	2:20,201,813	G/A	—	likely benign
rs1386726302	2:20,201,819	G/A	—	likely benign
rs779818318	2:20,201,852	A/G	—	likely benign
rs55977150	2:20,201,922	C/T	—	benign
rs16987282	2:20,202,738	T/C	—	benign
rs11681705	2:20,202,811	A/G	—	benign
rs2527697707	2:20,202,905	C/T	—	likely benign
rs761167853	2:20,202,910	C/T	—	likely benign
rs764944082	2:20,202,922	C/G	—	likely benign
rs104893639	2:20,202,928	A/T	missense variant	pathogenic
rs28452699	2:20,202,929	C/T	—	benign
rs77245812	2:20,202,930	G/A	missense variant	risk factor
rs1673021913	2:20,202,932	T/C	—	uncertain significance
rs200161462	2:20,202,935	C/G	—	uncertain significance
rs751324206	2:20,202,940	C/T	—	uncertain significance
rs376655881	2:20,202,941	G/A	—	likely benign
rs1673022490	2:20,202,947	C/T	—	likely benign
rs28680184	2:20,202,952	T/A	—	uncertain significance
rs541913288	2:20,202,953	G/A	—	benign
rs200304093	2:20,202,957	C/T	—	uncertain significance
rs561790770	2:20,202,958	C/T	—	likely benign
rs994488916	2:20,202,962	G/C	—	uncertain significance
rs1027447274	2:20,202,970	C/T	—	uncertain significance
rs1213234987	2:20,202,987	T/C	—	uncertain significance
rs527437250	2:20,203,000	T/G	—	uncertain significance

Showing 100 of 237 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.