NME8

NME/NM23 family member 8

Summary

This gene encodes a protein with an N-terminal thioredoxin domain and three C-terminal nucleoside diphosphate kinase (NDK) domains, but the NDK domains are thought to be catalytically inactive. The sea urchin ortholog of this gene encodes a component of sperm outer dynein arms, and the protein is implicated in ciliary function. Mutations in this gene are implicated in primary ciliary dyskinesia type 6.[provided by RefSeq, Nov 2009]

Known Variants338 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs10271309	7:37,889,786	A/G	—	benign
rs200067292	7:37,889,864	G/T	—	likely benign
rs184571218	7:37,889,866	T/C	—	likely benign
rs199576209	7:37,889,885	G/A	—	uncertain significance
rs1170478165	7:37,889,891	T/A	—	uncertain significance
rs765828426	7:37,889,892	C/G	—	likely benign
rs1554360728	7:37,889,909	T/G	—	likely benign
rs746181533	7:37,889,916	T/G	—	likely benign
rs2131937494	7:37,889,972	C/T	—	likely benign
rs776071598	7:37,889,982	A/G	—	likely benign
rs764519450	7:37,889,997	A/G	—	likely benign
rs934943362	7:37,889,999	G/A	—	uncertain significance
rs752092011	7:37,890,003	G/A	—	likely benign
rs757570040	7:37,890,006	G/C	—	uncertain significance
rs1554360744	7:37,890,023	A/G	—	uncertain significance
rs780172047	7:37,890,028	G/T	—	uncertain significance
rs2483605113	7:37,890,029	G/A	—	uncertain significance
rs376117068	7:37,890,030	C/T	—	likely benign
rs2483605119	7:37,890,031	T/A	—	uncertain significance
rs199920317	7:37,890,034	A/G	—	uncertain significance
rs2483605148	7:37,890,048	T/A	—	likely benign
rs746669564	7:37,890,053	G/A	—	likely benign
rs2722371	7:37,890,081	G/A	—	benign
rs777610363	7:37,890,212	A/G	—	likely benign
rs113388202	7:37,890,222	A/G	—	likely benign
rs1314343023	7:37,890,236	G/C	—	uncertain significance
rs2483605560	7:37,890,254	T/C	—	uncertain significance
rs1327566528	7:37,890,264	G/T	—	uncertain significance
rs138311368	7:37,890,265	C/T	—	likely benign
rs2722372	7:37,890,267	G/A	—	benign
rs2483605604	7:37,890,272	A/G	—	uncertain significance
rs772405642	7:37,890,273	T/C	—	uncertain significance
rs2483605618	7:37,890,277	A/G	—	likely benign
rs199848335	7:37,890,283	A/T	—	uncertain significance
rs2131937755	7:37,890,290	A/T	—	uncertain significance
rs1159620142	7:37,890,293	T/C	—	likely benign
rs2131937781	7:37,890,304	A/T	—	uncertain significance
rs759876007	7:37,890,308	A/G	—	uncertain significance
rs180763598	7:37,890,310	C/G	—	uncertain significance
rs369542497	7:37,890,311	G/A	—	uncertain significance
rs2598044	7:37,890,316	C/T	—	benign
rs748684004	7:37,890,337	C/T	—	uncertain significance
rs2598043	7:37,890,581	A/G	—	benign
rs2598042	7:37,890,589	A/G	—	benign
rs3213977	7:37,890,607	T/C	—	benign
rs2722353	7:37,896,599	A/C	—	benign
rs78352874	7:37,896,701	G/A	—	benign
rs2483614975	7:37,896,883	C/G	—	uncertain significance
rs3213976	7:37,896,896	A/G	—	benign
rs541494396	7:37,896,901	T/C	—	likely benign
rs142570057	7:37,896,903	C/A	—	likely benign
rs1460179248	7:37,896,906	C/A	—	uncertain significance
rs1372349900	7:37,896,917	T/C	—	likely benign
rs771622383	7:37,896,921	T/A	—	uncertain significance
rs746168002	7:37,896,927	C/G	—	uncertain significance
rs202034687	7:37,896,930	G/A	—	uncertain significance
rs775554270	7:37,896,935	T/C	—	likely benign
rs547826686	7:37,896,941	T/C	—	likely benign
rs2483615142	7:37,896,944	T/C	—	likely benign
rs1263698487	7:37,896,952	G/A	—	uncertain significance
rs377202353	7:37,896,956	A/G	—	likely benign
rs981830782	7:37,896,957	T/C	—	likely benign
rs2722354	7:37,897,183	C/T	—	benign
rs2598033	7:37,897,196	T/C	—	benign
rs6954013	7:37,897,198	A/C	—	benign
rs2722355	7:37,897,209	G/A	—	benign
rs78257982	7:37,901,385	T/C	—	benign
rs17235118	7:37,901,490	T/C	—	benign
rs2249451	7:37,901,581	G/A	—	benign
rs117149381	7:37,901,603	C/T	intron variant	likely benign
rs1486411712	7:37,901,611	G/C	—	likely benign
rs370705490	7:37,901,615	T/G	—	likely benign
rs75531720	7:37,901,616	C/T	—	benign
rs760643364	7:37,901,619	T/A	—	conflicting classifications of pathogenicity
rs759261323	7:37,901,624	T/C	—	likely benign
rs1474924619	7:37,901,625	T/C	—	likely benign
rs368506712	7:37,901,626	A/G	—	likely benign
rs191137504	7:37,901,627	T/C	—	likely benign
rs201295247	7:37,901,644	C/T	—	likely benign
rs368696812	7:37,901,645	G/A	—	uncertain significance
rs2483621383	7:37,901,658	G/C	—	uncertain significance
rs2483621384	7:37,901,660	G/A	—	uncertain significance
rs567620217	7:37,901,670	C/T	—	conflicting classifications of pathogenicity
rs536359204	7:37,901,671	G/A	—	likely benign
rs2131947110	7:37,901,674	T/G	—	likely benign
rs2483621457	7:37,901,678	A/G	—	uncertain significance
rs768937346	7:37,901,686	A/T	—	uncertain significance
rs2483621473	7:37,901,689	T/G	—	likely benign
rs2483621482	7:37,901,692	T/G	—	uncertain significance
rs199734697	7:37,901,701	C/T	—	likely benign
rs143447596	7:37,901,702	G/A	—	uncertain significance
rs372631973	7:37,901,703	A/G	—	uncertain significance
rs968749440	7:37,901,724	C/G	—	uncertain significance
rs770842803	7:37,901,726	G/T	—	uncertain significance
rs1336163948	7:37,901,733	T/C	—	uncertain significance
rs374907632	7:37,901,738	C/T	—	uncertain significance
rs2131947171	7:37,901,741	C/T	—	uncertain significance
rs751058129	7:37,901,753	C/A	—	likely benign
rs1456014799	7:37,901,762	A/C	—	likely benign
rs3816414	7:37,902,032	A/G	—	benign

Showing 100 of 338 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.