FAM20C

FAM20C golgi associated secretory pathway kinase

Summary

This gene encodes a member of the family of secreted protein kinases. The encoded protein binds calcium and phosphorylates proteins involved in bone mineralization. Mutations in this gene are associated with the autosomal recessive disorder Raine syndrome. [provided by RefSeq, Apr 2014]

Known Variants408 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs4577908	7:192,800	G/A	—	benign
rs116903250	7:193,091	C/T	—	benign
rs749965678	7:193,205	G/A	—	likely benign
rs73251052	7:193,222	G/A	—	likely benign
rs1303483965	7:193,223	G/C	—	likely benign
rs1367064980	7:193,230	G/A	—	uncertain significance
rs1394178678	7:193,233	C/T	—	uncertain significance
rs1336028410	7:193,235	C/T	—	likely benign
rs1242057966	7:193,239	C/A	—	uncertain significance
rs2115034420	7:193,241	G/C	—	likely benign
rs150401144	7:193,245	G/T	—	benign
rs753562131	7:193,253	G/C	—	likely benign
rs529612835	7:193,254	G/T	—	conflicting classifications of pathogenicity
rs1202275305	7:193,256	G/T	—	likely benign
rs1177102899	7:193,275	G/C	—	uncertain significance
rs1400936329	7:193,280	G/A	—	likely benign
rs2534527071	7:193,344	G/A	—	uncertain significance
rs748496296	7:193,346	G/A	—	likely benign
rs1451571868	7:193,351	C/T	—	uncertain significance
rs1785666958	7:193,354	C/T	—	uncertain significance
rs2534527206	7:193,356	G/T	—	uncertain significance
rs1344168203	7:193,368	G/C	—	uncertain significance
rs1785667978	7:193,370	G/C	—	likely benign
rs567930512	7:193,373	C/A	—	conflicting classifications of pathogenicity
rs1168278985	7:193,380	G/A	—	uncertain significance
rs942578514	7:193,384	A/T	—	uncertain significance
rs1785670238	7:193,388	T/G	—	likely benign
rs538469200	7:193,399	C/A	—	likely benign
rs776532676	7:193,400	C/T	—	likely benign
rs904224674	7:193,402	G/A	—	uncertain significance
rs999860915	7:193,407	C/T	—	uncertain significance
rs1222766107	7:193,416	G/T	—	uncertain significance
rs2534528065	7:193,430	C/T	—	likely benign
rs1263950129	7:193,433	C/G	—	likely benign
rs190382829	7:193,451	C/A	—	conflicting classifications of pathogenicity
rs769980789	7:193,466	C/T	—	likely benign
rs1221964833	7:193,497	T/A	—	uncertain significance
rs1025161065	7:193,502	C/T	—	likely benign
rs767408183	7:193,503	C/A	—	uncertain significance
rs1785686950	7:193,519	T/A	—	uncertain significance
rs1785687649	7:193,527	C/T	—	likely benign
rs1383109685	7:193,531	C/G	—	uncertain significance
rs754720957	7:193,542	G/A	—	uncertain significance
rs1316993591	7:193,544	G/T	—	uncertain significance
rs764977929	7:193,546	C/T	—	uncertain significance
rs1412424535	7:193,547	G/A	—	likely benign
rs972824224	7:193,550	C/G	—	likely benign
rs1212087732	7:193,571	G/A	—	likely benign
rs537411703	7:193,578	G/A	—	uncertain significance
rs539116395	7:193,584	C/T	—	likely benign
rs1321896914	7:193,585	T/G	—	likely benign
rs1425201953	7:193,602	G/A	—	uncertain significance
rs1237465964	7:193,616	G/T	—	likely benign
rs2534529456	7:193,618	T/C	—	uncertain significance
rs777933402	7:193,625	C/T	—	likely benign
rs996631258	7:193,633	C/T	—	uncertain significance
rs1785699823	7:193,634	G/A	—	likely benign
rs1478842717	7:193,652	C/T	—	likely benign
rs751592577	7:193,657	G/A	—	uncertain significance
rs999915013	7:193,667	A/G	—	likely benign
rs553928524	7:193,673	C/T	—	likely benign
rs962245579	7:193,679	C/T	—	likely benign
rs781379485	7:193,680	C/T	—	likely benign
rs745916292	7:193,687	G/T	—	benign
rs1477874798	7:193,695	G/T	—	pathogenic
rs2534530179	7:193,698	C/G	—	uncertain significance
rs1375288339	7:193,700	C/T	—	likely benign
rs1167681234	7:193,703	G/T	—	likely benign
rs1463869841	7:193,705	T/C	—	uncertain significance
rs775673987	7:193,716	G/A	—	uncertain significance
rs572411891	7:193,718	G/A	—	likely benign
rs969071982	7:193,719	G/T	—	uncertain significance
rs1297906375	7:193,723	C/T	—	uncertain significance
rs1300182816	7:193,724	G/T	—	likely benign
rs1226660428	7:193,726	C/G	—	uncertain significance
rs771901909	7:193,734	G/A	—	uncertain significance
rs1785710901	7:193,748	G/T	—	likely benign
rs1025732619	7:193,752	A/G	—	uncertain significance
rs777240362	7:193,753	A/T	—	uncertain significance
rs1215880926	7:193,760	C/T	—	likely benign
rs761779092	7:193,763	C/G	—	uncertain significance
rs1420601560	7:193,772	G/C	—	uncertain significance
rs759105808	7:193,781	C/T	—	likely benign
rs1353947235	7:193,798	C/T	—	uncertain significance
rs201631664	7:193,799	G/C	—	conflicting classifications of pathogenicity
rs794726946	7:193,803	T/G	—	uncertain significance
rs1182124718	7:193,815	G/T	—	likely benign
rs913504706	7:193,823	G/T	—	likely benign
rs186449019	7:193,979	C/T	—	likely benign
rs10266785	7:194,081	T/C	—	benign
rs78062493	7:195,399	C/T	—	likely benign
rs10277457	7:195,501	G/A	—	benign
rs375843569	7:195,540	G/A	—	likely benign
rs1354842326	7:195,547	C/T	—	likely benign
rs775090347	7:195,548	C/T	—	likely benign
rs2534540336	7:195,550	G/T	—	likely benign
rs763622631	7:195,556	C/T	—	conflicting classifications of pathogenicity
rs1343126201	7:195,559	A/G	—	uncertain significance
rs755764751	7:195,562	C/T	—	conflicting classifications of pathogenicity
rs767807372	7:195,563	G/C	—	likely benign

Showing 100 of 408 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.