PNPLA2

patatin like domain 2, triacylglycerol lipase

Summary

This gene encodes an enzyme which catalyzes the first step in the hydrolysis of triglycerides in adipose tissue. Mutations in this gene are associated with neutral lipid storage disease with myopathy. [provided by RefSeq, Jul 2010]

Known Variants476 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1845576682	11:818,937	G/T	—	uncertain significance
rs886048706	11:818,939	A/G	—	uncertain significance
rs770902094	11:818,945	A/G	—	uncertain significance
rs7928917	11:819,464	T/G	—	benign
rs28535188	11:819,486	T/C	—	benign
rs543276875	11:819,526	G/A	—	likely benign
rs886048707	11:819,563	C/T	—	uncertain significance
rs966083119	11:819,599	C/T	—	uncertain significance
rs769594766	11:819,601	C/T	—	uncertain significance
rs528189854	11:819,602	G/A	—	uncertain significance
rs909058907	11:819,636	G/A	—	uncertain significance
rs371274033	11:819,688	C/T	—	uncertain significance
rs550469869	11:819,700	C/A	—	likely benign
rs1399044687	11:819,728	C/T	—	uncertain significance
rs1295890527	11:819,729	G/A	—	uncertain significance
rs995048954	11:819,736	G/A	—	likely benign
rs368575770	11:819,739	G/A	—	likely benign
rs192598547	11:819,748	C/T	—	likely benign
rs868742399	11:819,750	C/T	—	likely pathogenic
rs757532269	11:819,751	G/C	—	likely benign
rs750233571	11:819,754	C/T	—	conflicting classifications of pathogenicity
rs755967977	11:819,758	G/A	—	uncertain significance
rs1590173730	11:819,760	C/T	—	likely benign
rs2495547885	11:819,761	T/A	—	uncertain significance
rs1489387064	11:819,763	C/A	—	pathogenic
rs749296643	11:819,770	C/T	—	uncertain significance
rs866957213	11:819,773	G/C	—	uncertain significance
rs1845606803	11:819,778	C/T	—	likely benign
rs1845606934	11:819,780	A/G	—	uncertain significance
rs2495547976	11:819,781	C/G	—	pathogenic
rs1156595797	11:819,788	G/T	—	uncertain significance
rs141027293	11:819,790	C/T	—	likely benign
rs980457581	11:819,792	T/C	—	uncertain significance
rs1322356803	11:819,794	G/A	—	uncertain significance
rs771863344	11:819,795	C/T	—	uncertain significance
rs773058474	11:819,798	C/T	—	uncertain significance
rs759976184	11:819,803	C/T	—	uncertain significance
rs1239954070	11:819,806	C/T	—	uncertain significance
rs770324200	11:819,808	C/G	—	likely benign
rs2495548120	11:819,809	G/T	—	likely pathogenic
rs989353648	11:819,814	C/T	—	likely benign
rs913793983	11:819,820	C/T	—	likely benign
rs1449869256	11:819,835	C/T	—	likely benign
rs1565085242	11:819,840	C/A	—	uncertain significance
rs763543214	11:819,841	G/T	—	likely benign
rs1845608812	11:819,845	A/G	—	uncertain significance
rs1290433318	11:819,846	T/G	—	uncertain significance
rs945283135	11:819,849	A/G	—	uncertain significance
rs751666909	11:819,856	C/T	—	likely benign
rs1406546138	11:819,875	G/A	—	uncertain significance
rs1845609685	11:819,879	C/G	—	uncertain significance
rs761885395	11:819,883	G/T	—	conflicting classifications of pathogenicity
rs2495548490	11:819,889	C/T	—	likely benign
rs917822758	11:819,895	G/C	—	likely benign
rs1590173934	11:819,896	G/A	—	uncertain significance
rs767719410	11:819,900	G/T	—	uncertain significance
rs1554975332	11:819,906	G/C	—	pathogenic
rs371958663	11:819,920	G/A	—	likely benign
rs566043077	11:819,923	C/A	—	likely benign
rs28592068	11:820,127	T/G	—	benign
rs1462889794	11:821,624	C/T	—	likely benign
rs963468170	11:821,634	C/T	—	uncertain significance
rs973505125	11:821,641	C/G	—	likely benign
rs1034378300	11:821,644	G/A	—	likely benign
rs1845668035	11:821,666	G/A	—	uncertain significance
rs769223022	11:821,669	C/T	—	uncertain significance
rs373487598	11:821,670	G/A	—	uncertain significance
rs371871714	11:821,675	C/T	—	uncertain significance
rs139576982	11:821,676	G/A	—	conflicting classifications of pathogenicity
rs1261842055	11:821,681	C/T	—	likely benign
rs2495553252	11:821,685	G/A	—	pathogenic
rs200701730	11:821,686	C/A	—	benign
rs2133847135	11:821,687	C/G	—	uncertain significance
rs149334466	11:821,690	C/T	—	likely benign
rs530863669	11:821,696	C/T	—	uncertain significance
rs1590175294	11:821,698	C/T	—	likely benign
rs1400446569	11:821,700	C/T	—	uncertain significance
rs765218411	11:821,707	C/T	—	likely benign
rs2495553386	11:821,719	C/G	—	uncertain significance
rs550573490	11:821,722	C/T	—	likely benign
rs143443756	11:821,723	C/T	—	uncertain significance
rs1845669885	11:821,724	G/A	—	uncertain significance
rs370529626	11:821,731	C/A	—	uncertain significance
rs749654266	11:821,760	A/G	—	uncertain significance
rs768939589	11:821,762	G/A	—	uncertain significance
rs200683247	11:821,766	A/G	—	conflicting classifications of pathogenicity
rs748673293	11:821,777	C/T	—	uncertain significance
rs145999340	11:821,778	G/A	—	uncertain significance
rs2495553577	11:821,781	T/C	—	uncertain significance
rs1845671822	11:821,793	T/C	—	uncertain significance
rs760827576	11:821,798	C/T	—	uncertain significance
rs750269327	11:821,799	G/A	—	uncertain significance
rs141674273	11:821,800	C/T	—	likely benign
rs142174851	11:821,809	C/T	—	conflicting classifications of pathogenicity
rs377534825	11:821,810	G/A	—	uncertain significance
rs140052906	11:821,812	C/T	—	uncertain significance
rs1036232298	11:821,813	G/A	—	uncertain significance
rs758441632	11:821,821	C/A	—	likely benign
rs2133847263	11:821,825	A/G	—	uncertain significance
rs763636189	11:821,829	C/A	—	uncertain significance

Showing 100 of 476 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.