L2HGDH

L-2-hydroxyglutarate dehydrogenase

Summary

This gene encodes L-2-hydroxyglutarate dehydrogenase, a FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe cognitive disability. [provided by RefSeq, Jul 2008]

Known Variants234 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs7143186	14:50,713,679	T/G	—	benign
rs2139922124	14:50,713,785	A/G	—	likely benign
rs780004372	14:50,713,789	C/A	—	uncertain significance
rs375890787	14:50,713,792	T/C	—	uncertain significance
rs754748944	14:50,713,796	G/T	—	uncertain significance
rs192927318	14:50,713,815	T/C	—	likely benign
rs868287441	14:50,713,826	C/G	—	uncertain significance
rs2503404731	14:50,713,829	T/C	—	uncertain significance
rs2503404921	14:50,713,846	G/A	—	uncertain significance
rs777120544	14:50,713,856	C/T	—	uncertain significance
rs867034834	14:50,713,868	G/C	—	uncertain significance
rs751508205	14:50,713,883	C/T	—	uncertain significance
rs754872991	14:50,713,892	C/T	—	uncertain significance
rs1888055214	14:50,713,897	C/T	—	uncertain significance
rs369101323	14:50,713,899	T/C	—	conflicting classifications of pathogenicity
rs1888055860	14:50,713,901	C/T	—	uncertain significance
rs755837506	14:50,713,910	C/T	—	uncertain significance
rs2139922838	14:50,713,938	A/G	—	likely benign
rs746040665	14:50,713,940	C/T	—	uncertain significance
rs1888059303	14:50,713,955	T/C	—	uncertain significance
rs2139922904	14:50,713,958	C/G	—	uncertain significance
rs772292731	14:50,713,967	G/C	—	uncertain significance
rs780217147	14:50,713,968	G/A	—	likely benign
rs2139922983	14:50,713,969	C/T	—	uncertain significance
rs892424035	14:50,713,973	T/A	—	conflicting classifications of pathogenicity
rs1192959983	14:50,713,988	T/A	—	likely benign
rs762276542	14:50,713,991	G/A	—	likely benign
rs17122318	14:50,714,129	A/G	—	benign
rs12432673	14:50,732,042	G/A	—	benign
rs892740235	14:50,732,056	T/G	—	likely benign
rs1555328499	14:50,732,074	A/C	—	likely pathogenic
rs1426651193	14:50,732,085	T/C	—	uncertain significance
rs150157112	14:50,732,095	T/C	—	conflicting classifications of pathogenicity
rs2503493699	14:50,732,097	A/G	—	uncertain significance
rs373172891	14:50,732,098	T/C	—	conflicting classifications of pathogenicity
rs141715606	14:50,732,117	A/C	—	conflicting classifications of pathogenicity
rs2139970112	14:50,732,119	G/A	—	uncertain significance
rs2503493964	14:50,732,129	T/C	—	likely benign
rs760624214	14:50,732,142	A/G	—	uncertain significance
rs1053062980	14:50,732,154	T/C	—	uncertain significance
rs786200869	14:50,732,157	—	—	pathogenic
rs115954396	14:50,732,172	T/C	—	likely benign
rs1222573122	14:50,732,173	A/G	—	uncertain significance
rs2503494566	14:50,732,190	G/T	—	uncertain significance
rs2503494836	14:50,732,209	T/C	—	likely pathogenic
rs2503494842	14:50,732,210	G/A	—	uncertain significance
rs145656270	14:50,732,221	A/C	—	likely benign
rs12431539	14:50,734,278	T/G	—	benign
rs12431540	14:50,734,282	T/G	—	benign
rs77236437	14:50,734,466	G/A	—	likely benign
rs1389374650	14:50,734,470	C/T	—	likely pathogenic
rs1555328744	14:50,734,477	A/G	—	uncertain significance
rs2503507096	14:50,734,486	T/C	—	uncertain significance
rs746089124	14:50,734,488	C/T	—	uncertain significance
rs1273518496	14:50,734,503	A/C	—	uncertain significance
rs369078905	14:50,734,504	C/T	—	uncertain significance
rs374931483	14:50,734,511	C/T	—	uncertain significance
rs771680443	14:50,734,517	G/A	—	uncertain significance
rs2503507887	14:50,734,529	C/T	—	uncertain significance
rs779733566	14:50,734,531	C/T	—	uncertain significance
rs387907013	14:50,734,532	G/A	stop gained	pathogenic
rs893179903	14:50,734,541	C/T	—	uncertain significance
rs146196275	14:50,734,548	T/C	—	likely benign
rs1889433551	14:50,734,557	C/A	—	likely benign
rs762791811	14:50,734,586	G/T	—	uncertain significance
rs1019425415	14:50,734,587	T/C	—	likely benign
rs2139977562	14:50,734,588	G/A	—	uncertain significance
rs1397712145	14:50,734,607	A/C	—	uncertain significance
rs779462929	14:50,734,615	C/T	—	uncertain significance
rs750803606	14:50,734,616	G/A	—	uncertain significance
rs2139977737	14:50,734,627	A/T	—	uncertain significance
rs746609687	14:50,734,641	C/T	—	likely benign
rs754741568	14:50,735,863	G/A	—	likely benign
rs747657711	14:50,735,874	T/C	—	likely benign
rs1889520205	14:50,735,876	C/A	—	uncertain significance
rs786200870	14:50,735,880	C/A	—	pathogenic
rs144701373	14:50,735,881	C/T	—	uncertain significance
rs118204020	14:50,735,882	G/A	missense variant	pathogenic
rs1889521207	14:50,735,884	A/C	—	pathogenic
rs2503517783	14:50,735,892	T/C	—	uncertain significance
rs200003497	14:50,735,935	A/G	—	likely benign
rs765312282	14:50,735,942	C/T	—	uncertain significance
rs570111306	14:50,735,943	G/A	—	likely pathogenic
rs72683923	14:50,735,947	C/T	—	likely benign
rs1555328968	14:50,735,952	C/T	—	uncertain significance
rs763449413	14:50,735,954	A/G	—	uncertain significance
rs147866347	14:50,735,957	C/T	—	conflicting classifications of pathogenicity
rs752025180	14:50,735,958	G/A	—	pathogenic
rs2503518740	14:50,735,961	G/A	—	uncertain significance
rs927773441	14:50,735,971	G/A	—	likely benign
rs1385874099	14:50,735,980	C/T	—	likely benign
rs531663473	14:50,735,984	T/A	—	uncertain significance
rs755596970	14:50,735,985	C/G	—	uncertain significance
rs748747271	14:50,735,993	C/T	—	uncertain significance
rs939210898	14:50,735,994	G/A	—	uncertain significance
rs757244874	14:50,735,995	G/C	—	uncertain significance
rs745703805	14:50,736,006	G/A	—	uncertain significance
rs776859735	14:50,736,008	C/A	—	uncertain significance
rs376132802	14:50,736,023	A/G	—	uncertain significance
rs141562044	14:50,736,031	A/G	—	likely benign

Showing 100 of 234 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.