KLHL7

kelch like family member 7

Summary

This gene encodes a BTB-Kelch-related protein. The encoded protein may be involved in protein degradation. Mutations in this gene have been associated with retinitis pigmentosa 42. [provided by RefSeq, Feb 2010]

Known Variants312 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs886062215	7:23,145,375	C/T	—	uncertain significance
rs75076913	7:23,145,411	G/T	—	benign
rs556626844	7:23,145,415	G/C	—	likely benign
rs886062216	7:23,145,431	T/A	—	uncertain significance
rs184270958	7:23,145,440	C/T	—	likely benign
rs545540476	7:23,145,501	C/T	—	uncertain significance
rs200506606	7:23,145,608	G/A	—	likely benign
rs563311203	7:23,145,630	A/G	—	likely benign
rs750030865	7:23,145,649	G/A	—	uncertain significance
rs755687208	7:23,145,655	T/G	—	uncertain significance
rs1057464852	7:23,145,659	G/T	—	uncertain significance
rs753287578	7:23,145,660	G/A	—	likely benign
rs996132702	7:23,145,661	G/A	—	uncertain significance
rs758108456	7:23,145,671	G/A	—	uncertain significance
rs781538844	7:23,145,673	A/G	—	uncertain significance
rs367891815	7:23,145,678	G/A	—	likely benign
rs895869200	7:23,145,696	A/G	—	likely benign
rs2534736146	7:23,145,697	C/T	—	uncertain significance
rs1425742767	7:23,145,698	T/C	—	uncertain significance
rs2534736171	7:23,145,700	G/C	—	uncertain significance
rs2128454618	7:23,145,714	A/G	—	likely benign
rs1381952893	7:23,145,726	G/A	—	likely benign
rs2128454624	7:23,145,728	C/T	—	uncertain significance
rs2534736420	7:23,145,735	C/T	—	likely benign
rs1172652033	7:23,145,739	G/T	—	uncertain significance
rs769326241	7:23,145,742	G/A	—	uncertain significance
rs2534736474	7:23,145,750	T/C	—	likely benign
rs772318385	7:23,145,755	T/C	—	uncertain significance
rs1440669437	7:23,145,760	A/G	—	uncertain significance
rs1782625125	7:23,145,765	G/C	—	uncertain significance
rs1583624435	7:23,145,784	T/A	—	likely benign
rs17147682	7:23,157,582	A/G	—	benign
rs2534805238	7:23,163,390	G/C	—	likely benign
rs149581781	7:23,163,398	A/G	—	likely benign
rs995194046	7:23,163,400	C/T	—	uncertain significance
rs150640353	7:23,163,401	G/A	—	conflicting classifications of pathogenicity
rs1583655937	7:23,163,409	A/G	—	uncertain significance
rs1257670851	7:23,163,411	G/C	—	uncertain significance
rs139162761	7:23,163,416	C/G	—	uncertain significance
rs2534805527	7:23,163,431	A/G	—	likely benign
rs2128460036	7:23,163,432	A/G	—	uncertain significance
rs1019742554	7:23,163,437	G/C	—	uncertain significance
rs1783450715	7:23,163,450	C/T	—	uncertain significance
rs2534805769	7:23,163,453	G/C	—	uncertain significance
rs2534805878	7:23,163,466	C/T	—	uncertain significance
rs2128460051	7:23,163,473	T/C	—	likely benign
rs2128460058	7:23,163,503	G/C	—	likely pathogenic
rs2534809575	7:23,164,290	T/C	—	likely benign
rs1433967228	7:23,164,296	C/T	—	likely benign
rs760446829	7:23,164,300	A/G	—	likely benign
rs1381232046	7:23,164,301	T/C	—	likely benign
rs1440469958	7:23,164,312	A/G	—	uncertain significance
rs2534809749	7:23,164,334	A/C	—	uncertain significance
rs17857198	7:23,164,336	G/A	—	uncertain significance
rs2534809778	7:23,164,337	T/G	—	uncertain significance
rs2128460337	7:23,164,342	C/T	—	uncertain significance
rs2128460340	7:23,164,353	T/C	—	likely benign
rs2534809922	7:23,164,358	C/T	—	uncertain significance
rs768067507	7:23,164,374	A/G	—	likely benign
rs756510839	7:23,164,389	T/C	—	likely benign
rs2534810196	7:23,164,404	A/G	—	uncertain significance
rs201968528	7:23,164,410	G/T	—	likely benign
rs2128460357	7:23,164,411	T/C	—	likely benign
rs778678708	7:23,164,413	T/C	—	likely benign
rs886062217	7:23,164,660	T/C	—	uncertain significance
rs1333020874	7:23,164,671	T/G	—	uncertain significance
rs867358889	7:23,164,673	C/T	—	likely benign
rs1783517137	7:23,164,674	G/A	—	uncertain significance
rs2128460447	7:23,164,687	A/T	—	uncertain significance
rs2534811527	7:23,164,699	T/C	—	uncertain significance
rs15775	7:23,164,701	C/T	—	benign
rs1259856971	7:23,164,712	A/C	—	likely benign
rs2534811640	7:23,164,720	A/G	—	uncertain significance
rs1208985231	7:23,164,725	A/G	—	uncertain significance
rs2534811690	7:23,164,731	C/T	—	uncertain significance
rs779844999	7:23,164,736	G/A	—	likely benign
rs2534811766	7:23,164,745	G/A	—	uncertain significance
rs2534811832	7:23,164,752	G/T	—	uncertain significance
rs749041391	7:23,164,754	T/C	—	likely benign
rs1783520733	7:23,164,759	T/C	—	uncertain significance
rs369829959	7:23,164,765	A/G	—	uncertain significance
rs1562559942	7:23,164,769	A/G	—	likely benign
rs1554286384	7:23,164,771	T/C	—	conflicting classifications of pathogenicity
rs1182983579	7:23,164,782	A/T	—	likely pathogenic
rs1393224299	7:23,164,786	G/T	—	uncertain significance
rs2534812134	7:23,164,789	T/G	—	uncertain significance
rs760135767	7:23,164,805	G/C	—	likely benign
rs530824095	7:23,168,184	G/A	—	—
rs868214923	7:23,180,380	G/C	—	likely benign
rs2534860329	7:23,180,387	G/A	—	likely pathogenic
rs372990687	7:23,180,390	A/G	—	uncertain significance
rs137853112	7:23,180,394	G/A	missense variant	pathogenic
rs1784155928	7:23,180,396	G/T	—	uncertain significance
rs137853114	7:23,180,402	G/A	missense variant	pathogenic
rs137853113	7:23,180,403	C/T	missense variant	pathogenic
rs150030941	7:23,180,404	G/A	—	benign
rs376208914	7:23,180,413	A/G	—	likely benign
rs1784156837	7:23,180,417	T/C	—	pathogenic
rs182116399	7:23,180,425	A/G	—	likely benign
rs1784157420	7:23,180,429	A/G	—	uncertain significance

Showing 100 of 312 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.