ATP13A2

ATPase cation transporting 13A2

Summary

This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008]

Known Variants920 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs114057553	1:17,312,242	C/T	—	likely benign
rs535432261	1:17,312,465	T/C	—	likely benign
rs777596557	1:17,312,473	T/G	—	uncertain significance
rs76298930	1:17,312,485	C/T	—	likely benign
rs2522617372	1:17,312,509	G/A	—	uncertain significance
rs970274162	1:17,312,534	G/A	—	uncertain significance
rs185521359	1:17,312,558	A/G	—	likely benign
rs542270701	1:17,312,560	C/T	—	uncertain significance
rs762111359	1:17,312,561	G/A	—	conflicting classifications of pathogenicity
rs537718060	1:17,312,570	G/A	—	likely benign
rs973107762	1:17,312,571	G/A	—	uncertain significance
rs557545457	1:17,312,576	G/C	—	likely benign
rs766927390	1:17,312,578	G/A	—	uncertain significance
rs189334432	1:17,312,586	G/A	—	conflicting classifications of pathogenicity
rs15786	1:17,312,592	A/G	—	benign
rs41273151	1:17,312,596	T/A	—	likely benign
rs747025503	1:17,312,607	G/A	—	uncertain significance
rs770098952	1:17,312,637	G/A	—	uncertain significance
rs763402432	1:17,312,640	G/A	—	uncertain significance
rs369126613	1:17,312,658	T/C	—	uncertain significance
rs573196719	1:17,312,667	T/C	—	uncertain significance
rs372161403	1:17,312,675	A/G	—	likely benign
rs375521810	1:17,312,692	G/A	—	uncertain significance
rs1452079880	1:17,312,699	G/A	—	likely benign
rs369889934	1:17,312,705	G/A	—	likely benign
rs773484997	1:17,312,707	G/T	—	uncertain significance
rs1443725907	1:17,312,716	C/A	—	uncertain significance
rs771312962	1:17,312,720	C/T	—	uncertain significance
rs774920921	1:17,312,721	T/A	—	uncertain significance
rs1397360819	1:17,312,722	C/T	—	likely benign
rs547860186	1:17,312,730	C/T	—	conflicting classifications of pathogenicity
rs1227408529	1:17,312,732	G/C	—	uncertain significance
rs761418456	1:17,312,734	G/A	—	likely benign
rs372995036	1:17,312,741	G/A	—	conflicting classifications of pathogenicity
rs3170740	1:17,312,743	T/C	—	benign
rs1373598537	1:17,312,757	C/T	—	uncertain significance
rs781135190	1:17,312,758	G/A	—	conflicting classifications of pathogenicity
rs373003359	1:17,312,769	G/A	—	uncertain significance
rs1553164387	1:17,312,783	A/G	—	uncertain significance
rs544885605	1:17,312,786	C/T	—	conflicting classifications of pathogenicity
rs201610681	1:17,312,787	G/A	—	conflicting classifications of pathogenicity
rs2100626361	1:17,312,788	C/A	—	uncertain significance
rs761171771	1:17,312,797	G/A	—	likely benign
rs772666861	1:17,312,801	C/T	—	uncertain significance
rs1197349768	1:17,312,802	G/T	—	likely benign
rs780245221	1:17,312,810	C/T	—	uncertain significance
rs766073047	1:17,312,811	G/A	—	uncertain significance
rs533548757	1:17,312,816	C/T	—	conflicting classifications of pathogenicity
rs759327218	1:17,312,817	G/A	—	uncertain significance
rs971337693	1:17,312,819	C/T	—	uncertain significance
rs370421723	1:17,312,820	G/A	—	conflicting classifications of pathogenicity
rs752663856	1:17,312,824	G/A	—	likely benign
rs756071133	1:17,312,825	C/T	—	uncertain significance
rs151181674	1:17,312,829	C/T	missense variant	likely benign
rs377703085	1:17,312,830	G/A	—	conflicting classifications of pathogenicity
rs2522670994	1:17,312,831	G/T	—	uncertain significance
rs959029475	1:17,312,833	G/C	—	likely benign
rs950374667	1:17,312,836	G/A	—	likely benign
rs1286550266	1:17,312,837	C/A	—	uncertain significance
rs1057519289	1:17,312,841	G/A	stop gained	pathogenic
rs1220221077	1:17,312,845	T/C	—	likely benign
rs2100629081	1:17,312,848	C/G	—	likely benign
rs528943677	1:17,312,850	C/T	—	uncertain significance
rs779310083	1:17,312,851	G/T	—	uncertain significance
rs139088170	1:17,312,867	G/A	—	likely benign
rs1218741489	1:17,312,939	G/A	—	likely benign
rs375485447	1:17,312,948	C/T	—	likely benign
rs374766933	1:17,312,949	G/A	—	conflicting classifications of pathogenicity
rs758763354	1:17,312,951	G/A	—	likely benign
rs369705373	1:17,312,963	G/A	—	likely benign
rs2076727609	1:17,312,964	C/T	—	uncertain significance
rs373514205	1:17,312,979	G/A	—	likely benign
rs773914880	1:17,312,985	G/A	—	conflicting classifications of pathogenicity
rs1170773460	1:17,313,003	C/G	—	likely benign
rs375453342	1:17,313,007	A/C	—	uncertain significance
rs1553164601	1:17,313,016	A/C	—	uncertain significance
rs145674970	1:17,313,020	C/T	—	conflicting classifications of pathogenicity
rs115985012	1:17,313,021	G/A	—	conflicting classifications of pathogenicity
rs758675397	1:17,313,034	T/C	—	conflicting classifications of pathogenicity
rs112261486	1:17,313,036	C/T	—	likely benign
rs751916254	1:17,313,042	C/T	—	likely benign
rs755307953	1:17,313,043	G/A	—	uncertain significance
rs201756175	1:17,313,049	G/A	—	conflicting classifications of pathogenicity
rs886045577	1:17,313,062	G/A	—	uncertain significance
rs756650754	1:17,313,066	G/A	—	conflicting classifications of pathogenicity
rs1057522952	1:17,313,086	C/G	—	uncertain significance
rs778370632	1:17,313,087	C/T	—	uncertain significance
rs1415901248	1:17,313,090	G/C	—	likely benign
rs541932176	1:17,313,092	C/T	—	conflicting classifications of pathogenicity
rs771715671	1:17,313,093	G/A	—	likely benign
rs1400593592	1:17,313,094	G/A	—	uncertain significance
rs377253172	1:17,313,105	C/G	—	uncertain significance
rs370677966	1:17,313,106	G/A	—	conflicting classifications of pathogenicity
rs761814059	1:17,313,107	C/T	—	uncertain significance
rs2522716202	1:17,313,116	C/G	—	uncertain significance
rs773379849	1:17,313,124	G/T	—	uncertain significance
rs2522718458	1:17,313,134	G/A	—	likely benign
rs2076736733	1:17,313,140	G/C	—	likely benign
rs2076605	1:17,313,157	G/A	—	benign
rs149826987	1:17,313,161	C/T	—	likely benign

Showing 100 of 920 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.