PNKD

PNKD metallo-beta-lactamase domain containing

Summary

This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

Known Variants512 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs147309598	2:219,134,864	T/A	—	likely benign
rs140903641	2:219,134,865	C/A	—	likely benign
rs1877714	2:219,134,928	A/G	—	benign
rs13419763	2:219,134,950	C/T	—	benign
rs1877713	2:219,135,013	G/A	—	benign
rs183319984	2:219,135,154	A/T	—	likely benign
rs886055618	2:219,135,180	C/A	—	uncertain significance
rs570619432	2:219,135,194	G/A	—	uncertain significance
rs775653461	2:219,135,260	T/G	—	uncertain significance
rs764107923	2:219,135,263	C/T	—	uncertain significance
rs2106176364	2:219,135,264	G/T	—	likely benign
rs751631915	2:219,135,266	C/T	—	uncertain significance
rs1574614822	2:219,135,269	T/C	—	uncertain significance
rs1574614834	2:219,135,272	T/G	—	uncertain significance
rs2106176403	2:219,135,273	A/G	—	likely benign
rs1023163176	2:219,135,274	G/A	—	uncertain significance
rs1559495483	2:219,135,275	C/T	—	uncertain significance
rs1224839595	2:219,135,280	A/G	—	uncertain significance
rs371342116	2:219,135,282	G/A	—	likely benign
rs2106176431	2:219,135,283	G/C	—	uncertain significance
rs2469254130	2:219,135,285	G/A	—	likely benign
rs1553654482	2:219,135,291	G/A	—	likely benign
rs778883254	2:219,135,293	G/A	—	uncertain significance
rs747754197	2:219,135,294	C/T	—	likely benign
rs886055619	2:219,135,295	C/T	—	uncertain significance
rs1391955842	2:219,135,297	G/C	—	likely benign
rs1690790020	2:219,135,298	G/A	—	uncertain significance
rs955860203	2:219,135,300	G/A	—	likely benign
rs1690790281	2:219,135,303	G/A	—	likely benign
rs934430255	2:219,135,304	A/G	—	uncertain significance
rs1553654496	2:219,135,305	G/T	—	uncertain significance
rs987174979	2:219,135,306	A/G	—	likely benign
rs1374309402	2:219,135,311	C/T	—	uncertain significance
rs1690790863	2:219,135,313	C/T	—	uncertain significance
rs758101708	2:219,135,319	C/T	—	uncertain significance
rs878855015	2:219,135,323	G/A	—	uncertain significance
rs901028645	2:219,135,325	G/A	—	uncertain significance
rs1287473807	2:219,135,326	G/C	—	uncertain significance
rs1690791696	2:219,135,328	A/G	—	uncertain significance
rs964681626	2:219,135,337	G/A	—	likely benign
rs746524295	2:219,135,340	C/A	—	likely benign
rs974978157	2:219,135,341	C/G	—	likely benign
rs1357502016	2:219,135,344	G/C	—	likely benign
rs28372691	2:219,135,423	C/G	—	likely benign
rs11900801	2:219,135,930	C/T	—	benign
rs117369613	2:219,135,974	C/G	—	likely benign
rs1574615763	2:219,136,090	A/G	—	likely benign
rs1317927434	2:219,136,097	T/C	—	likely benign
rs761897018	2:219,136,105	G/A	—	likely benign
rs1222343109	2:219,136,112	G/A	—	uncertain significance
rs767501883	2:219,136,113	C/T	—	uncertain significance
rs1281998266	2:219,136,115	G/A	—	uncertain significance
rs767828489	2:219,136,119	C/G	—	uncertain significance
rs1439620304	2:219,136,127	A/G	—	uncertain significance
rs2469256774	2:219,136,135	T/G	—	likely benign
rs146016925	2:219,136,137	C/G	—	uncertain significance
rs1454822881	2:219,136,144	C/T	—	likely benign
rs1574615848	2:219,136,148	A/C	—	uncertain significance
rs753100961	2:219,136,149	C/G	—	uncertain significance
rs1376337203	2:219,136,151	C/T	—	uncertain significance
rs367998906	2:219,136,152	G/C	—	uncertain significance
rs2469256850	2:219,136,158	T/C	—	uncertain significance
rs199629886	2:219,136,165	C/A	—	uncertain significance
rs2469256895	2:219,136,170	G/C	—	uncertain significance
rs904039076	2:219,136,174	C/T	—	likely benign
rs999745118	2:219,136,175	C/T	—	uncertain significance
rs2469256923	2:219,136,177	A/G	—	likely benign
rs1318681160	2:219,136,178	G/A	—	uncertain significance
rs780594684	2:219,136,184	A/T	—	uncertain significance
rs371649118	2:219,136,186	G/A	—	likely benign
rs2469257875	2:219,136,195	T/C	—	likely benign
rs201680473	2:219,136,201	C/T	—	likely benign
rs2106177655	2:219,136,204	A/G	—	likely benign
rs376689739	2:219,136,209	C/T	—	uncertain significance
rs1427711767	2:219,136,210	G/T	—	likely benign
rs1690829634	2:219,136,216	G/A	—	likely benign
rs2106177691	2:219,136,221	A/G	—	uncertain significance
rs146100906	2:219,136,225	T/C	—	likely benign
rs2106177705	2:219,136,232	A/G	—	uncertain significance
rs1690830446	2:219,136,239	G/C	—	uncertain significance
rs765261684	2:219,136,240	C/T	—	uncertain significance
rs2469258011	2:219,136,247	C/G	—	uncertain significance
rs2469258030	2:219,136,254	A/G	—	uncertain significance
rs1690830852	2:219,136,256	G/T	—	uncertain significance
rs1690831012	2:219,136,262	G/C	—	uncertain significance
rs1004791945	2:219,136,265	C/G	—	uncertain significance
rs752738498	2:219,136,266	T/C	—	uncertain significance
rs1201792156	2:219,136,269	C/T	—	uncertain significance
rs1252609591	2:219,136,272	G/A	—	uncertain significance
rs1481240008	2:219,136,278	T/C	—	uncertain significance
rs2469258217	2:219,136,280	T/C	—	likely benign
rs1267388404	2:219,136,287	C/A	—	likely benign
rs369983094	2:219,136,290	C/T	—	likely benign
rs143615889	2:219,136,993	C/T	—	likely benign
rs201303528	2:219,137,341	G/A	—	likely benign
rs748151319	2:219,137,443	G/T	—	uncertain significance
rs190517400	2:219,137,451	C/T	—	likely benign
rs148049021	2:219,137,452	G/A	—	benign
rs10716631	2:219,138,170	T/G	—	—
rs2292550	2:219,140,288	G/C	—	benign

Showing 100 of 512 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.