NBAS

NBAS subunit of NRZ tethering complex

Summary

This gene encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain. The protein is thought to be involved in Golgi-to-ER transport. Mutations in this gene are associated with short stature, optic nerve atrophy, and Pelger-Huet anomaly. [provided by RefSeq, Oct 2012]

Known Variants2,055 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs79566085	2:15,054,811	G/A	intergenic variant	—
rs1568282	2:15,066,177	C/T	intergenic variant	—
rs138993181	2:15,158,009	C/A	intergenic variant	—
rs16862281	2:15,202,459	C/T	intergenic variant	—
rs2241348	2:15,306,861	G/C	—	benign
rs2125093800	2:15,307,177	C/G	—	uncertain significance
rs566782672	2:15,307,184	C/T	—	likely benign
rs559458188	2:15,307,187	T/C	—	likely benign
rs1176314146	2:15,307,190	T/C	—	likely benign
rs778106322	2:15,307,192	C/T	—	likely benign
rs756922357	2:15,307,193	G/A	—	likely benign
rs759896675	2:15,307,195	G/A	—	uncertain significance
rs2125093877	2:15,307,196	G/T	—	likely benign
rs2527903871	2:15,307,202	T/G	—	likely benign
rs373706717	2:15,307,204	T/C	—	conflicting classifications of pathogenicity
rs376484930	2:15,307,212	G/T	—	uncertain significance
rs534262249	2:15,307,225	G/C	—	uncertain significance
rs1329818074	2:15,307,226	G/C	—	uncertain significance
rs1286956472	2:15,307,230	G/A	—	uncertain significance
rs898405702	2:15,307,232	C/T	—	likely benign
rs2527904204	2:15,307,236	C/G	—	uncertain significance
rs138592420	2:15,307,240	C/T	—	conflicting classifications of pathogenicity
rs367886048	2:15,307,241	G/A	—	likely benign
rs1191413929	2:15,307,250	G/A	—	likely benign
rs1479190797	2:15,307,253	A/C	—	likely benign
rs2125094035	2:15,307,254	G/T	—	uncertain significance
rs1186052888	2:15,307,256	C/A	—	likely benign
rs780113723	2:15,307,258	C/G	—	uncertain significance
rs549511661	2:15,307,259	G/A	—	likely benign
rs756256415	2:15,307,264	C/T	—	conflicting classifications of pathogenicity
rs139377604	2:15,307,265	G/A	—	likely benign
rs749416685	2:15,307,266	G/A	—	uncertain significance
rs746270875	2:15,307,274	G/A	—	likely benign
rs200561560	2:15,307,275	C/T	—	uncertain significance
rs574569326	2:15,307,276	C/T	—	conflicting classifications of pathogenicity
rs200784608	2:15,307,277	G/A	—	likely benign
rs1165919113	2:15,307,278	G/A	—	uncertain significance
rs1459678168	2:15,307,283	C/G	—	likely benign
rs541610098	2:15,307,284	C/T	—	likely benign
rs372119905	2:15,307,285	G/A	—	conflicting classifications of pathogenicity
rs369691624	2:15,307,288	G/A	—	likely benign
rs1221983524	2:15,307,291	G/A	—	uncertain significance
rs766340026	2:15,307,295	G/A	—	likely benign
rs1664062193	2:15,307,296	C/T	—	uncertain significance
rs751526384	2:15,307,297	C/A	—	uncertain significance
rs754977276	2:15,307,300	G/A	—	likely benign
rs764206961	2:15,307,301	C/G	—	uncertain significance
rs1179477781	2:15,307,304	C/T	—	likely benign
rs1664063544	2:15,307,308	G/C	—	uncertain significance
rs1406359553	2:15,307,310	A/C	—	uncertain significance
rs753985619	2:15,307,311	T/C	—	uncertain significance
rs150030912	2:15,307,317	C/T	—	conflicting classifications of pathogenicity
rs553951049	2:15,307,318	G/A	—	conflicting classifications of pathogenicity
rs1021405951	2:15,307,322	T/G	—	uncertain significance
rs376840720	2:15,307,325	C/T	—	likely benign
rs1444390106	2:15,307,329	A/G	—	conflicting classifications of pathogenicity
rs200477125	2:15,307,343	G/A	—	likely benign
rs1372579690	2:15,307,353	A/G	—	uncertain significance
rs148186764	2:15,307,356	C/T	—	likely benign
rs769181635	2:15,307,357	G/A	—	uncertain significance
rs775953115	2:15,307,359	G/A	—	uncertain significance
rs747671225	2:15,307,362	T/C	—	uncertain significance
rs369904845	2:15,307,374	G/C	—	likely benign
rs778338208	2:15,307,379	A/T	—	conflicting classifications of pathogenicity
rs766215589	2:15,307,380	C/T	—	uncertain significance
rs1664070387	2:15,307,387	C/T	—	uncertain significance
rs1443086881	2:15,307,396	T/C	—	uncertain significance
rs2125094613	2:15,307,400	A/G	—	likely benign
rs76873514	2:15,307,412	G/C	—	benign
rs1267103662	2:15,307,413	G/C	—	uncertain significance
rs2527906215	2:15,307,416	A/G	—	uncertain significance
rs2527906333	2:15,307,425	T/C	—	uncertain significance
rs1208934708	2:15,307,429	C/A	—	likely pathogenic
rs765301563	2:15,307,433	A/G	—	likely benign
rs368395181	2:15,307,434	T/C	—	likely benign
rs573205433	2:15,307,436	G/A	—	likely benign
rs1212416251	2:15,307,441	C/T	—	uncertain significance
rs751942000	2:15,307,442	A/G	—	likely benign
rs755385089	2:15,307,443	T/C	—	uncertain significance
rs2527906588	2:15,307,446	A/G	—	uncertain significance
rs372960591	2:15,307,466	G/A	—	likely benign
rs543501974	2:15,307,467	C/A	—	likely benign
rs10221694	2:15,307,564	T/G	—	benign
rs3731995	2:15,319,022	C/T	—	benign
rs1394592912	2:15,319,094	A/G	—	likely benign
rs776597537	2:15,319,112	C/T	—	pathogenic
rs762988102	2:15,319,113	G/A	—	uncertain significance
rs140346039	2:15,319,114	T/C	—	likely benign
rs751762515	2:15,319,115	A/T	—	likely benign
rs2527968547	2:15,319,123	C/T	—	uncertain significance
rs145098234	2:15,319,124	C/T	—	likely benign
rs144615326	2:15,319,125	G/A	—	conflicting classifications of pathogenicity
rs2125117285	2:15,319,141	C/A	—	uncertain significance
rs150030853	2:15,319,147	C/T	—	benign
rs778623720	2:15,319,148	G/C	—	uncertain significance
rs145372749	2:15,319,162	C/G	—	likely benign
rs574794539	2:15,319,164	C/T	—	likely benign
rs746756510	2:15,319,165	G/A	—	pathogenic
rs2527968899	2:15,319,166	G/A	—	likely benign
rs2527968913	2:15,319,169	C/T	—	likely benign

Showing 100 of 2,055 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.