MYOC

myocilin

Summary

MYOC encodes the protein myocilin, which is believed to have a role in cytoskeletal function. MYOC is expressed in many occular tissues, including the trabecular meshwork, and was revealed to be the trabecular meshwork glucocorticoid-inducible response protein (TIGR). The trabecular meshwork is a specialized eye tissue essential in regulating intraocular pressure, and mutations in MYOC have been identified as the cause of hereditary juvenile-onset open-angle glaucoma. [provided by RefSeq, Jul 2008]

Known Variants266 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs142425726	1:171,604,639	G/A	—	uncertain significance
rs548121911	1:171,604,734	T/C	—	uncertain significance
rs748718270	1:171,604,792	C/T	—	uncertain significance
rs186880389	1:171,604,824	T/C	—	uncertain significance
rs886045562	1:171,604,877	G/A	—	uncertain significance
rs886045563	1:171,604,883	G/T	—	uncertain significance
rs74403899	1:171,604,992	C/G	—	benign
rs886045564	1:171,604,994	C/T	—	uncertain significance
rs2527837905	1:171,605,065	T/C	—	uncertain significance
rs2102944436	1:171,605,076	A/G	—	likely pathogenic
rs145977437	1:171,605,081	T/C	—	likely benign
rs2102944438	1:171,605,084	A/C	—	likely pathogenic
rs2102944440	1:171,605,085	T/A	—	likely pathogenic
rs2527837951	1:171,605,088	C/G	—	uncertain significance
rs727504025	1:171,605,089	A/C	—	uncertain significance
rs1239668610	1:171,605,094	T/G	—	uncertain significance
rs2102944447	1:171,605,097	C/T	—	uncertain significance
rs2527837995	1:171,605,114	C/T	—	uncertain significance
rs2234929	1:171,605,116	G/A	—	likely benign
rs776513776	1:171,605,117	G/A	—	uncertain significance
rs2527838026	1:171,605,124	G/A	—	likely pathogenic
rs1378048690	1:171,605,128	C/T	—	likely benign
rs2527838041	1:171,605,133	C/A	—	uncertain significance
rs2102944466	1:171,605,138	G/A	—	likely pathogenic
rs763068244	1:171,605,139	G/A	—	uncertain significance
rs74315332	1:171,605,140	G/T	missense variant	pathogenic
rs2102944475	1:171,605,145	A/G	—	likely pathogenic
rs2527838071	1:171,605,148	C/A	—	uncertain significance
rs74315331	1:171,605,150	A/C	missense variant	pathogenic
rs764112994	1:171,605,154	T/C	—	uncertain significance
rs554235897	1:171,605,168	T/C	—	uncertain significance
rs771122834	1:171,605,172	G/A	—	uncertain significance
rs1400370105	1:171,605,185	G/C	—	uncertain significance
rs868311329	1:171,605,207	C/T	—	uncertain significance
rs2527838259	1:171,605,216	G/T	—	likely pathogenic
rs1356088463	1:171,605,231	T/C	—	uncertain significance
rs2527838316	1:171,605,232	T/A	—	likely pathogenic
rs572512491	1:171,605,235	C/T	—	likely benign
rs1239082043	1:171,605,238	T/G	—	uncertain significance
rs756961599	1:171,605,240	G/A	—	uncertain significance
rs2527838349	1:171,605,241	C/T	—	uncertain significance
rs140967767	1:171,605,246	G/A	—	likely benign
rs2234928	1:171,605,263	G/C	—	uncertain significance
rs375235405	1:171,605,266	G/A	—	uncertain significance
rs2527838437	1:171,605,267	G/A	—	likely pathogenic
rs74315328	1:171,605,271	A/G	missense variant	pathogenic
rs772246395	1:171,605,278	G/A	—	uncertain significance
rs1200513428	1:171,605,280	C/T	—	uncertain significance
rs2527838648	1:171,605,282	C/T	—	likely pathogenic
rs74315338	1:171,605,283	A/G	missense variant	pathogenic
rs555328498	1:171,605,290	G/A	—	likely benign
rs1652914106	1:171,605,292	A/G	—	uncertain significance
rs754237376	1:171,605,301	C/T	—	uncertain significance
rs1183498744	1:171,605,302	G/A	—	uncertain significance
rs2102944566	1:171,605,304	C/A	—	likely pathogenic
rs1164030447	1:171,605,306	G/C	—	uncertain significance
rs760065904	1:171,605,308	C/G	—	uncertain significance
rs74315336	1:171,605,313	T/C	missense variant	pathogenic
rs201573718	1:171,605,315	C/T	—	uncertain significance
rs751113505	1:171,605,316	G/A	—	uncertain significance
rs150438494	1:171,605,322	T/A	—	uncertain significance
rs1270841723	1:171,605,325	T/C	—	uncertain significance
rs1351097164	1:171,605,340	C/T	—	uncertain significance
rs749164354	1:171,605,341	G/A	—	likely benign
rs748201066	1:171,605,371	G/A	—	uncertain significance
rs1187084570	1:171,605,379	T/G	—	uncertain significance
rs28936694	1:171,605,384	C/A	missense variant	pathogenic
rs56314834	1:171,605,387	T/C	—	benign
rs61730975	1:171,605,392	C/T	—	benign
rs765809047	1:171,605,395	A/C	—	uncertain significance
rs369157032	1:171,605,397	C/T	—	uncertain significance
rs763577837	1:171,605,398	G/A	—	likely benign
rs998968146	1:171,605,401	G/C	—	uncertain significance
rs2527838941	1:171,605,402	C/T	—	uncertain significance
rs749960559	1:171,605,420	C/T	—	likely pathogenic
rs1033533679	1:171,605,427	C/T	—	likely pathogenic
rs2527839053	1:171,605,429	T/C	—	likely pathogenic
rs1652918497	1:171,605,430	C/T	—	likely pathogenic
rs2102944632	1:171,605,441	T/G	—	pathogenic
rs121909194	1:171,605,442	C/G	missense variant	pathogenic
rs2527839096	1:171,605,444	A/G	—	uncertain significance
rs2527839110	1:171,605,447	T/C	—	uncertain significance
rs140112372	1:171,605,449	C/T	—	likely benign
rs566289099	1:171,605,450	G/A	—	pathogenic
rs2527839135	1:171,605,459	C/A	—	uncertain significance
rs989306028	1:171,605,461	C/T	—	uncertain significance
rs878854408	1:171,605,469	A/G	missense variant	pathogenic
rs149881467	1:171,605,470	C/T	—	likely benign
rs74315330	1:171,605,471	G/A	missense variant	pathogenic
rs1652919860	1:171,605,473	G/C	—	uncertain significance
rs2527839170	1:171,605,475	A/G	—	uncertain significance
rs74315329	1:171,605,478	G/A	stop gained	pathogenic
rs74315334	1:171,605,481	C/T	missense variant	pathogenic
rs121909193	1:171,605,489	C/A	missense variant	pathogenic
rs771057339	1:171,605,490	C/T	—	uncertain significance
rs2102944665	1:171,605,493	C/T	—	likely pathogenic
rs1198457923	1:171,605,498	G/A	—	uncertain significance
rs1344039930	1:171,605,499	G/A	—	uncertain significance
rs1652920956	1:171,605,501	A/T	—	uncertain significance
rs137853277	1:171,605,522	G/A	missense variant	likely benign

Showing 100 of 266 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.