D2hgdh Variant Search Result - Rat Genome Database

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412 records found for search term D2hgdh

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
28885562	CV884437	single nucleotide variant	NM_152783.5(D2HGDH):c.*2G>A	D-2-hydroxyglutaric aciduria 1 [RCV001137548]	uncertain significance	2	241767971	241767971	Human	1	name
11589054	CV285583	single nucleotide variant	NM_152783.5(D2HGDH):c.-99A>G	D-2-hydroxyglutaric aciduria 1 [RCV000307749]\|not provided [RCV004708569]	benign	2	241734689	241734689	Human	1	name
11597627	CV285592	single nucleotide variant	NM_152783.5(D2HGDH):c.*27C>T	D-2-hydroxyglutaric aciduria 1 [RCV000396217]\|not provided [RCV004708571]	benign\|likely benign	2	241767996	241767996	Human	1	name
11588126	CV285594	single nucleotide variant	NM_152783.5(D2HGDH):c.*87C>T	D-2-hydroxyglutaric aciduria 1 [RCV000300473]	uncertain significance	2	241768056	241768056	Human	1	name
11659929	CV286280	single nucleotide variant	NM_152783.5(D2HGDH):c.-98T>G	D-2-hydroxyglutaric aciduria 1 [RCV000362402]	uncertain significance	2	241734690	241734690	Human	1	name
11595232	CV286282	single nucleotide variant	NM_152783.5(D2HGDH):c.-37C>T	D-2-hydroxyglutaric aciduria 1 [RCV000368369]	uncertain significance	2	241735188	241735188	Human	1	name
11594087	CV286302	single nucleotide variant	NM_152783.5(D2HGDH):c.*93T>C	D-2-hydroxyglutaric aciduria 1 [RCV000355278]\|not provided [RCV001675831]	benign\|likely benign	2	241768062	241768062	Human	1	name
11591313	CV288597	single nucleotide variant	NM_152783.5(D2HGDH):c.-91C>G	D-2-hydroxyglutaric aciduria 1 [RCV000327673]\|not provided [RCV001613088]	benign\|likely benign	2	241735134	241735134	Human	1	name
11593724	CV288639	single nucleotide variant	NM_152783.5(D2HGDH):c.*26C>T	D-2-hydroxyglutaric aciduria 1 [RCV000351525]\|not provided [RCV004708570]	benign\|uncertain significance	2	241767995	241767995	Human	1	name
28892104	CV884424	single nucleotide variant	NM_152783.5(D2HGDH):c.-83C>T	D-2-hydroxyglutaric aciduria 1 [RCV001139564]\|not provided [RCV004694863]	uncertain significance	2	241735142	241735142	Human	1	name
28891862	CV884425	single nucleotide variant	NM_152783.5(D2HGDH):c.-45C>T	D-2-hydroxyglutaric aciduria 1 [RCV001139565]	uncertain significance	2	241735180	241735180	Human	1	name
28892422	CV884438	single nucleotide variant	NM_152783.5(D2HGDH):c.*40C>T	D-2-hydroxyglutaric aciduria 1 [RCV001139770]\|not provided [RCV004711530]	likely benign	2	241768009	241768009	Human	1	name
28892426	CV884439	single nucleotide variant	NM_152783.5(D2HGDH):c.*51C>T	D-2-hydroxyglutaric aciduria 1 [RCV001139771]\|not provided [RCV004694867]	uncertain significance	2	241768020	241768020	Human	1	name
11591168	CV285600	single nucleotide variant	NM_152783.5(D2HGDH):c.*284C>T	D-2-hydroxyglutaric aciduria 1 [RCV000326324]	uncertain significance	2	241768253	241768253	Human	1	name
11591307	CV285602	single nucleotide variant	NM_152783.5(D2HGDH):c.*427G>A	D-2-hydroxyglutaric aciduria 1 [RCV000327600]	benign\|likely benign	2	241768396	241768396	Human	1	name
11596821	CV285603	single nucleotide variant	NM_152783.5(D2HGDH):c.*449C>T	D-2-hydroxyglutaric aciduria 1 [RCV000386804]\|not provided [RCV004709911]	benign	2	241768418	241768418	Human	1	name
11588618	CV285607	single nucleotide variant	NM_152783.5(D2HGDH):c.*717C>G	D-2-hydroxyglutaric aciduria 1 [RCV000304213]	uncertain significance	2	241768686	241768686	Human	1	name
11597126	CV285608	single nucleotide variant	NM_152783.5(D2HGDH):c.*801A>G	D-2-hydroxyglutaric aciduria 1 [RCV000390215]\|not provided [RCV004709913]	benign\|likely benign	2	241768770	241768770	Human	1	name
11662906	CV286279	single nucleotide variant	NM_152783.5(D2HGDH):c.-132C>T	D-2-hydroxyglutaric aciduria 1 [RCV000390257]	uncertain significance	2	241734656	241734656	Human	1	name
11583429	CV286306	single nucleotide variant	NM_152783.5(D2HGDH):c.*266G>A	D-2-hydroxyglutaric aciduria 1 [RCV000266456]	benign\|likely benign	2	241768235	241768235	Human	1	name
11661866	CV286315	duplication	NM_152783.5(D2HGDH):c.*411dup	D-2-hydroxyglutaric aciduria [RCV000380900]	uncertain significance	2	241768374	241768375	Human	2	name
11597062	CV286322	single nucleotide variant	NM_152783.5(D2HGDH):c.*503C>T	D-2-hydroxyglutaric aciduria 1 [RCV000389435]	uncertain significance	2	241768472	241768472	Human	1	name
11647862	CV286335	single nucleotide variant	NM_152783.5(D2HGDH):c.*553G>T	D-2-hydroxyglutaric aciduria 1 [RCV000278617]	uncertain significance	2	241768522	241768522	Human	1	name
11597632	CV286337	single nucleotide variant	NM_152783.5(D2HGDH):c.*661C>T	D-2-hydroxyglutaric aciduria 1 [RCV000396445]\|not provided [RCV004709912]	benign\|likely benign	2	241768630	241768630	Human	3	name
11585590	CV286338	single nucleotide variant	NM_152783.5(D2HGDH):c.*669G>A	D-2-hydroxyglutaric aciduria 1 [RCV000282034]	uncertain significance	2	241768638	241768638	Human	1	name
11659776	CV288594	single nucleotide variant	NM_152783.5(D2HGDH):c.-141C>T	D-2-hydroxyglutaric aciduria 1 [RCV000361085]	uncertain significance	2	241734647	241734647	Human	1	name
11594635	CV288640	single nucleotide variant	NM_152783.5(D2HGDH):c.*778C>T	D-2-hydroxyglutaric aciduria 1 [RCV000361268]\|not provided [RCV004708574]	benign	2	241768747	241768747	Human	1	name
11645381	CV289016	single nucleotide variant	NM_152783.5(D2HGDH):c.*171G>A	D-2-hydroxyglutaric aciduria 1 [RCV000265126]	uncertain significance	2	241768140	241768140	Human	1	name
11588281	CV289019	single nucleotide variant	NM_152783.5(D2HGDH):c.*194G>A	D-2-hydroxyglutaric aciduria 1 [RCV000301575]	uncertain significance	2	241768163	241768163	Human	1	name
11594626	CV289020	single nucleotide variant	NM_152783.5(D2HGDH):c.*254G>A	D-2-hydroxyglutaric aciduria 1 [RCV000361148]\|not provided [RCV004708572]	benign\|likely benign	2	241768223	241768223	Human	1	name
11584239	CV289031	single nucleotide variant	NM_152783.5(D2HGDH):c.*410G>A	D-2-hydroxyglutaric aciduria 1 [RCV000272487]	likely benign\|uncertain significance	2	241768379	241768379	Human	1	name
11587322	CV289033	single nucleotide variant	NM_152783.5(D2HGDH):c.*474C>T	D-2-hydroxyglutaric aciduria 1 [RCV000294041]	likely benign\|uncertain significance	2	241768443	241768443	Human	1	name
11656350	CV289034	single nucleotide variant	NM_152783.5(D2HGDH):c.*499G>A	D-2-hydroxyglutaric aciduria 1 [RCV000332628]	uncertain significance	2	241768468	241768468	Human	1	name
11592177	CV289035	single nucleotide variant	NM_152783.5(D2HGDH):c.*597C>T	D-2-hydroxyglutaric aciduria 1 [RCV000336055]	uncertain significance	2	241768566	241768566	Human	1	name
11592495	CV289037	single nucleotide variant	NM_152783.5(D2HGDH):c.*680G>C	D-2-hydroxyglutaric aciduria 1 [RCV000339508]	uncertain significance	2	241768649	241768649	Human	1	name
11597652	CV289039	single nucleotide variant	NM_152783.5(D2HGDH):c.*688G>A	D-2-hydroxyglutaric aciduria 1 [RCV000396430]\|not provided [RCV004708573]	benign\|likely benign	2	241768657	241768657	Human	1	name
28884768	CV884421	single nucleotide variant	NM_152783.5(D2HGDH):c.-135C>A	D-2-hydroxyglutaric aciduria 1 [RCV001137331]	uncertain significance	2	241734653	241734653	Human	1	name
28884773	CV884422	single nucleotide variant	NM_152783.5(D2HGDH):c.-105G>A	D-2-hydroxyglutaric aciduria 1 [RCV001137332]	uncertain significance	2	241734683	241734683	Human	1	name
28884775	CV884423	single nucleotide variant	NM_152783.5(D2HGDH):c.-102G>A	D-2-hydroxyglutaric aciduria 1 [RCV001137333]	uncertain significance	2	241734686	241734686	Human	1	name
28892431	CV884440	single nucleotide variant	NM_152783.5(D2HGDH):c.*150C>T	D-2-hydroxyglutaric aciduria 1 [RCV001139772]	uncertain significance	2	241768119	241768119	Human	1	name
28894513	CV884441	single nucleotide variant	NM_152783.5(D2HGDH):c.*253C>T	D-2-hydroxyglutaric aciduria 1 [RCV001140539]	uncertain significance	2	241768222	241768222	Human	1	name
28894516	CV884442	single nucleotide variant	NM_152783.5(D2HGDH):c.*256G>T	D-2-hydroxyglutaric aciduria 1 [RCV001140540]	uncertain significance	2	241768225	241768225	Human	1	name
28894519	CV884443	single nucleotide variant	NM_152783.5(D2HGDH):c.*298C>T	D-2-hydroxyglutaric aciduria 1 [RCV001140541]	uncertain significance	2	241768267	241768267	Human	1	name
28894522	CV884444	single nucleotide variant	NM_152783.5(D2HGDH):c.*321A>G	D-2-hydroxyglutaric aciduria 1 [RCV001140542]	uncertain significance	2	241768290	241768290	Human	1	name
28894527	CV884445	single nucleotide variant	NM_152783.5(D2HGDH):c.*334C>T	D-2-hydroxyglutaric aciduria 1 [RCV001140543]	uncertain significance	2	241768303	241768303	Human	1	name
28899511	CV884446	single nucleotide variant	NM_152783.5(D2HGDH):c.*405C>T	D-2-hydroxyglutaric aciduria 1 [RCV001142388]	uncertain significance	2	241768374	241768374	Human	1	name
28899515	CV884447	single nucleotide variant	NM_152783.5(D2HGDH):c.*433G>T	D-2-hydroxyglutaric aciduria 1 [RCV001142389]	benign	2	241768402	241768402	Human	1	name
28899517	CV884448	single nucleotide variant	NM_152783.5(D2HGDH):c.*461C>T	D-2-hydroxyglutaric aciduria 1 [RCV001142390]	uncertain significance	2	241768430	241768430	Human	1	name
28899519	CV884449	single nucleotide variant	NM_152783.5(D2HGDH):c.*462G>A	D-2-hydroxyglutaric aciduria 1 [RCV001142391]	uncertain significance	2	241768431	241768431	Human	1	name
28885889	CV884450	single nucleotide variant	NM_152783.5(D2HGDH):c.*537G>A	D-2-hydroxyglutaric aciduria 1 [RCV001137645]	uncertain significance	2	241768506	241768506	Human	1	name
28885891	CV884451	single nucleotide variant	NM_152783.5(D2HGDH):c.*542C>T	D-2-hydroxyglutaric aciduria 1 [RCV001137646]	uncertain significance	2	241768511	241768511	Human	1	name
28885895	CV884452	single nucleotide variant	NM_152783.5(D2HGDH):c.*633T>A	D-2-hydroxyglutaric aciduria 1 [RCV001137647]	uncertain significance	2	241768602	241768602	Human	1	name
28892707	CV884453	single nucleotide variant	NM_152783.5(D2HGDH):c.*687C>T	D-2-hydroxyglutaric aciduria 1 [RCV001139867]	uncertain significance	2	241768656	241768656	Human	1	name
28892712	CV884454	single nucleotide variant	NM_152783.5(D2HGDH):c.*709G>A	D-2-hydroxyglutaric aciduria 1 [RCV001139868]	uncertain significance	2	241768678	241768678	Human	1	name
28892716	CV884455	single nucleotide variant	NM_152783.5(D2HGDH):c.*713C>T	D-2-hydroxyglutaric aciduria 1 [RCV001139869]	uncertain significance	2	241768682	241768682	Human	1	name
28892719	CV884456	single nucleotide variant	NM_152783.5(D2HGDH):c.*714G>A	D-2-hydroxyglutaric aciduria 1 [RCV001139870]	uncertain significance	2	241768683	241768683	Human	1	name
151355543	CV1328610	single nucleotide variant	NM_152783.5(D2HGDH):c.998-3T>C	not specified [RCV001820615]	likely benign	2	241751243	241751243	Human		name
151811357	CV1417458	single nucleotide variant	NM_152783.5(D2HGDH):c.997+6G>A	D-2-hydroxyglutaric aciduria 1 [RCV002029000]\|not specified [RCV003235657]	uncertain significance	2	241750300	241750300	Human	1	name
9682323	CV168056	single nucleotide variant	NM_152783.5(D2HGDH):c.292+9G>A	D-2-hydroxyglutaric aciduria 1 [RCV001082464]\|not provided [RCV000677007]\|not specified [RCV000145797]	benign\|likely benign	2	241735525	241735525	Human	1	name
9682330	CV168063	single nucleotide variant	NM_152783.5(D2HGDH):c.685-9T>C	D-2-hydroxyglutaric aciduria 1 [RCV000345166]\|not provided [RCV000677008]\|not specified [RCV000145804]	benign\|likely benign	2	241744700	241744700	Human	1	name
8556498	CV16894	single nucleotide variant	NM_152783.5(D2HGDH):c.685-2A>G	D-2-hydroxyglutaric aciduria 1 [RCV000001929]	pathogenic	2	241744707	241744707	Human	1	name
156225328	CV1962464	single nucleotide variant	NM_152783.5(D2HGDH):c.684+9G>C	D-2-hydroxyglutaric aciduria 1 [RCV002596608]	uncertain significance	2	241743824	241743824	Human	1	name
156266805	CV2135048	single nucleotide variant	NM_152783.5(D2HGDH):c.997+8C>T	D-2-hydroxyglutaric aciduria 1 [RCV002988676]	likely benign	2	241750302	241750302	Human	1	name
10449787	CV215255	single nucleotide variant	NM_152783.5(D2HGDH):c.-92-4C>G	D-2-hydroxyglutaric aciduria 1 [RCV000272569]\|not specified [RCV000202906]	likely pathogenic\|likely benign\|uncertain significance	2	241735129	241735129	Human	1	name
404999287	CV2878429	single nucleotide variant	NM_152783.5(D2HGDH):c.998-7C>T	D-2-hydroxyglutaric aciduria 1 [RCV003525752]	likely benign	2	241751239	241751239	Human	1	name
597938800	CV3760061	single nucleotide variant	NM_152783.5(D2HGDH):c.684+8G>A	D-2-hydroxyglutaric aciduria 1 [RCV005076985]	likely benign	2	241743823	241743823	Human	1	name
597883521	CV3799505	single nucleotide variant	NM_152783.5(D2HGDH):c.685-7C>T	D-2-hydroxyglutaric aciduria 1 [RCV005150172]	likely benign	2	241744702	241744702	Human	1	name
13216830	CV428032	single nucleotide variant	NM_152783.5(D2HGDH):c.685-8G>A	not specified [RCV000504249]	uncertain significance	2	241744701	241744701	Human		name
13814912	CV557982	single nucleotide variant	NM_152783.5(D2HGDH):c.853+2T>C	D-2-hydroxyglutaric aciduria 1 [RCV000691213]	likely pathogenic	2	241744879	241744879	Human	1	name
14693196	CV620743	single nucleotide variant	NM_152783.5(D2HGDH):c.-92-2A>T	D-2-hydroxyglutaric aciduria 1 [RCV000778604]	uncertain significance	2	241735131	241735131	Human		name
14693198	CV620744	single nucleotide variant	NM_152783.5(D2HGDH):c.998-2A>G	D-2-hydroxyglutaric aciduria 1 [RCV000778605]	uncertain significance	2	241751244	241751244	Human		name
15188233	CV743904	single nucleotide variant	NM_152783.5(D2HGDH):c.854-8C>T	D-2-hydroxyglutaric aciduria 1 [RCV001137442]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	241750143	241750143	Human	1	name
15184394	CV743925	single nucleotide variant	NM_152783.5(D2HGDH):c.351-8C>T	D-2-hydroxyglutaric aciduria 1 [RCV000908269]\|D2HGDH-related disorder [RCV003968352]	likely benign	2	241742427	241742427	Human	1	name , trait , alternate_id
15150378	CV743930	single nucleotide variant	NM_152783.5(D2HGDH):c.490+9G>A	not provided [RCV000901139]	likely benign	2	241742583	241742583	Human		name
15192028	CV774691	single nucleotide variant	NM_152783.5(D2HGDH):c.854-7G>A	D-2-hydroxyglutaric aciduria 1 [RCV001137443]\|not provided [RCV000932968]	likely benign\|uncertain significance	2	241750144	241750144	Human	1	name
150466201	CV1255700	single nucleotide variant	NM_152783.5(D2HGDH):c.293-82A>G	not provided [RCV001670334]	benign	2	241740951	241740951	Human		name
150493603	CV1257589	single nucleotide variant	NM_152783.5(D2HGDH):c.293-73C>T	not provided [RCV001675262]	benign	2	241740960	241740960	Human		name
151856420	CV1372626	single nucleotide variant	NM_152783.5(D2HGDH):c.684+12C>T	D-2-hydroxyglutaric aciduria 1 [RCV002033829]	likely benign\|uncertain significance	2	241743827	241743827	Human	1	name
151770544	CV1429175	deletion	NM_152783.5(D2HGDH):c.1306+1del	D-2-hydroxyglutaric aciduria 1 [RCV001988194]	pathogenic\|uncertain significance	2	241756014	241756014	Human	1	name
152158791	CV1544275	deletion	NM_152783.5(D2HGDH):c.350+19del	D-2-hydroxyglutaric aciduria 1 [RCV002122827]	benign	2	241741108	241741108	Human	1	name
152032658	CV1546371	single nucleotide variant	NM_152783.5(D2HGDH):c.491-18C>T	D-2-hydroxyglutaric aciduria 1 [RCV002124790]	benign	2	241743604	241743604	Human	1	name
152081033	CV1548194	single nucleotide variant	NM_152783.5(D2HGDH):c.490+18G>A	D-2-hydroxyglutaric aciduria 1 [RCV002076369]	likely benign	2	241742592	241742592	Human	1	name
152110444	CV1581511	single nucleotide variant	NM_152783.5(D2HGDH):c.490+16C>T	D-2-hydroxyglutaric aciduria 1 [RCV002096776]\|not specified [RCV003235666]	benign\|likely benign\|uncertain significance	2	241742590	241742590	Human	1	name
152034473	CV1610600	deletion	NM_152783.5(D2HGDH):c.997+13del	D-2-hydroxyglutaric aciduria 1 [RCV002125103]	benign	2	241750302	241750302	Human	1	name
152085119	CV1623017	single nucleotide variant	NM_152783.5(D2HGDH):c.997+11C>T	D-2-hydroxyglutaric aciduria 1 [RCV002113277]	likely benign	2	241750305	241750305	Human	1	name
152136102	CV1624771	single nucleotide variant	NM_152783.5(D2HGDH):c.997+18A>G	D-2-hydroxyglutaric aciduria 1 [RCV002177439]	likely benign	2	241750312	241750312	Human	1	name
152094281	CV1632083	single nucleotide variant	NM_152783.5(D2HGDH):c.490+20C>T	D-2-hydroxyglutaric aciduria 1 [RCV002132421]	benign	2	241742594	241742594	Human	1	name
152032592	CV1643126	single nucleotide variant	NM_152783.5(D2HGDH):c.997+17C>T	D-2-hydroxyglutaric aciduria 1 [RCV002205003]	likely benign	2	241750311	241750311	Human	1	name
9682322	CV168057	single nucleotide variant	NM_152783.5(D2HGDH):c.292+28T>G	D-2-hydroxyglutaric aciduria 1 [RCV001657833]\|not provided [RCV001610444]\|not specified [RCV000145796]	benign\|likely benign	2	241735544	241735544	Human	1	name
9682325	CV168058	single nucleotide variant	NM_152783.5(D2HGDH):c.293-23A>T	D-2-hydroxyglutaric aciduria 1 [RCV001518744]\|D2HGDH-related disorder [RCV003905263]\|not provided [RCV003430708]\|not specified [RCV000145799]	benign\|likely benign	2	241741010	241741010	Human	1	name , trait , alternate_id
9682324	CV168059	single nucleotide variant	NM_152783.5(D2HGDH):c.293-18A>G	D-2-hydroxyglutaric aciduria 1 [RCV001518113]\|not provided [RCV001725128]\|not specified [RCV000145798]	benign\|likely benign	2	241741015	241741015	Human	1	name
9682328	CV168061	single nucleotide variant	NM_152783.5(D2HGDH):c.490+40T>C	D-2-hydroxyglutaric aciduria 1 [RCV001657834]\|not provided [RCV001618296]\|not specified [RCV000145802]	benign\|likely benign	2	241742614	241742614	Human	1	name
8556497	CV16893	single nucleotide variant	NM_152783.5(D2HGDH):c.293-23A>G	D-2-hydroxyglutaric aciduria 1 [RCV000001928]	pathogenic	2	241741010	241741010	Human	1	name
156392496	CV1869620	single nucleotide variant	NM_152783.5(D2HGDH):c.997+13C>G	D-2-hydroxyglutaric aciduria 1 [RCV003051480]	likely benign	2	241750307	241750307	Human	1	name
156021532	CV1909569	single nucleotide variant	NM_152783.5(D2HGDH):c.350+18G>A	D-2-hydroxyglutaric aciduria 1 [RCV002619418]	likely benign	2	241741108	241741108	Human	1	name
156416893	CV1970084	single nucleotide variant	NM_152783.5(D2HGDH):c.997+12C>T	D-2-hydroxyglutaric aciduria 1 [RCV002589931]	likely benign	2	241750306	241750306	Human	1	name
10403948	CV206990	single nucleotide variant	NM_152783.5(D2HGDH):c.1140+8G>A	D-2-hydroxyglutaric aciduria 1 [RCV001079053]\|not provided [RCV000488169]\|not specified [RCV000193809]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	241751396	241751396	Human	1	name
10406498	CV206992	single nucleotide variant	NM_152783.5(D2HGDH):c.1306+2T>C	D-2-hydroxyglutaric aciduria [RCV000192863]	likely pathogenic	2	241756016	241756016	Human	2	name
155999790	CV2074551	single nucleotide variant	NM_152783.5(D2HGDH):c.351-18C>T	D-2-hydroxyglutaric aciduria 1 [RCV002843351]	likely benign	2	241742417	241742417	Human	1	name
405013153	CV2904071	single nucleotide variant	NM_152783.5(D2HGDH):c.351-20C>G	D-2-hydroxyglutaric aciduria 1 [RCV003527461]	likely benign	2	241742415	241742415	Human	1	name
405003999	CV2933395	single nucleotide variant	NM_152783.5(D2HGDH):c.854-19A>G	D-2-hydroxyglutaric aciduria 1 [RCV003526599]	likely benign	2	241750132	241750132	Human	1	name
404999223	CV3173067	single nucleotide variant	NM_152783.5(D2HGDH):c.685-20G>A	D-2-hydroxyglutaric aciduria 1 [RCV003882350]	likely benign	2	241744689	241744689	Human	1	name
408386902	CV3518601	single nucleotide variant	NM_152783.5(D2HGDH):c.-92-10C>A	not provided [RCV004760919]	uncertain significance	2	241735123	241735123	Human		name
597874364	CV3766131	single nucleotide variant	NM_152783.5(D2HGDH):c.293-18A>T	D-2-hydroxyglutaric aciduria 1 [RCV005108263]	likely benign	2	241741015	241741015	Human	1	name
28892108	CV887331	single nucleotide variant	NM_152783.5(D2HGDH):c.-93+15C>T	D-2-hydroxyglutaric aciduria 1 [RCV001139563]	uncertain significance	2	241734710	241734710	Human	1	name
28894229	CV887333	single nucleotide variant	NM_152783.5(D2HGDH):c.1306+7G>A	D-2-hydroxyglutaric aciduria 1 [RCV001140430]	conflicting interpretations of pathogenicity\|uncertain significance	2	241756021	241756021	Human	1	name
42722857	CV985185	single nucleotide variant	NM_152783.5(D2HGDH):c.1141-2A>G	D-2-hydroxyglutaric aciduria 1 [RCV001292835]	pathogenic	2	241755847	241755847	Human		name
127260515	CV1091115	single nucleotide variant	NM_152783.5(D2HGDH):c.1306+10G>A	D-2-hydroxyglutaric aciduria 1 [RCV001427860]	likely benign	2	241756024	241756024	Human	1	name
150433246	CV1216846	single nucleotide variant	NM_152783.5(D2HGDH):c.684+144T>C	not provided [RCV001608748]	benign	2	241743959	241743959	Human		name
150430670	CV1243423	single nucleotide variant	NM_152783.5(D2HGDH):c.293-219G>A	not provided [RCV001663041]	benign	2	241740814	241740814	Human		name
150491626	CV1251220	single nucleotide variant	NM_152783.5(D2HGDH):c.-92-196C>G	not provided [RCV001674888]	benign	2	241734937	241734937	Human		name
150487503	CV1251534	single nucleotide variant	NM_152783.5(D2HGDH):c.491-193T>C	not provided [RCV001674205]	benign	2	241743429	241743429	Human		name
150448142	CV1253510	single nucleotide variant	NM_152783.5(D2HGDH):c.1306+68T>C	not provided [RCV001667438]	benign	2	241756082	241756082	Human		name
150481402	CV1258913	single nucleotide variant	NM_152783.5(D2HGDH):c.853+102G>C	not provided [RCV001686043]	benign	2	241744979	241744979	Human		name
150450133	CV1260918	single nucleotide variant	NM_152783.5(D2HGDH):c.685-132A>G	not provided [RCV001680587]	benign	2	241744577	241744577	Human		name
150459259	CV1263992	single nucleotide variant	NM_152783.5(D2HGDH):c.-93+203A>C	not provided [RCV001681907]	benign	2	241734898	241734898	Human		name
150477834	CV1279529	single nucleotide variant	NM_152783.5(D2HGDH):c.-92-197C>G	not provided [RCV001714192]	benign	2	241734936	241734936	Human		name
152028703	CV1639645	single nucleotide variant	NM_152783.5(D2HGDH):c.1141-14G>A	D-2-hydroxyglutaric aciduria 1 [RCV002085551]	likely benign	2	241755835	241755835	Human	1	name
152140937	CV1660952	single nucleotide variant	NM_152783.5(D2HGDH):c.1306+14C>T	D-2-hydroxyglutaric aciduria 1 [RCV002120360]	likely benign	2	241756028	241756028	Human	1	name
152085419	CV1663263	single nucleotide variant	NM_152783.5(D2HGDH):c.1307-19T>C	D-2-hydroxyglutaric aciduria 1 [RCV002171107]	benign	2	241767691	241767691	Human	1	name
9682318	CV168071	single nucleotide variant	NM_152783.5(D2HGDH):c.1307-24A>G	D-2-hydroxyglutaric aciduria 1 [RCV001657832]\|not provided [RCV001689681]\|not specified [RCV000145792]	benign\|likely benign	2	241767686	241767686	Human	1	name
156163633	CV1971352	single nucleotide variant	NM_152783.5(D2HGDH):c.1306+11C>T	D-2-hydroxyglutaric aciduria 1 [RCV002594552]	likely benign	2	241756025	241756025	Human	1	name
156023197	CV2019480	single nucleotide variant	NM_152783.5(D2HGDH):c.1140+19G>T	D-2-hydroxyglutaric aciduria 1 [RCV002691100]	likely benign	2	241751407	241751407	Human	1	name
156106531	CV2038535	single nucleotide variant	NM_152783.5(D2HGDH):c.1141-15C>T	D-2-hydroxyglutaric aciduria 1 [RCV002761514]	likely benign	2	241755834	241755834	Human	1	name
28892150	CV887332	single nucleotide variant	NM_152783.5(D2HGDH):c.1141-12C>T	D-2-hydroxyglutaric aciduria 1 [RCV001139663]	conflicting interpretations of pathogenicity\|uncertain significance	2	241755837	241755837	Human	1	name
28899245	CV887334	single nucleotide variant	NM_152783.5(D2HGDH):c.1306+15G>A	D-2-hydroxyglutaric aciduria 1 [RCV001142287]	conflicting interpretations of pathogenicity\|uncertain significance	2	241756029	241756029	Human	1	name
28899248	CV887335	single nucleotide variant	NM_152783.5(D2HGDH):c.1307-15C>T	D-2-hydroxyglutaric aciduria 1 [RCV001142288]	benign	2	241767695	241767695	Human	1	name
150472249	CV1236308	single nucleotide variant	NM_152783.5(D2HGDH):c.1140+218C>G	not provided [RCV001651393]	benign	2	241751606	241751606	Human		name
150471766	CV1259180	single nucleotide variant	NM_152783.5(D2HGDH):c.1307-205C>G	not provided [RCV001684425]	benign	2	241767505	241767505	Human		name
150443639	CV1277885	single nucleotide variant	NM_152783.5(D2HGDH):c.1307-169C>T	not provided [RCV001707028]	benign	2	241767541	241767541	Human		name
21071138	CV790222	single nucleotide variant	NM_152783.5(D2HGDH):c.854-1200C>T	D-2-hydroxyglutaric aciduria 1 [RCV000987079]\|not provided [RCV004709014]	benign	2	241748951	241748951	Human	1	name
152054164	CV1574234	inversion	NM_152783.5(D2HGDH):c.685-9_685-8inv	D-2-hydroxyglutaric aciduria 1 [RCV002189759]	likely benign	2	241744700	241744701	Human		name
15131928	CV747484	single nucleotide variant	NM_152783.5(D2HGDH):c.6G>A (p.Leu2=)	D-2-hydroxyglutaric aciduria 1 [RCV002544940]	likely benign	2	241735230	241735230	Human	1	name
126737149	CV1016039	microsatellite	NM_152783.5(D2HGDH):c.350+10_350+12del	D-2-hydroxyglutaric aciduria 1 [RCV001328687]	uncertain significance	2	241741095	241741097	Human		name
152037721	CV1524956	single nucleotide variant	NM_152783.5(D2HGDH):c.57A>G (p.Gly19=)	D-2-hydroxyglutaric aciduria 1 [RCV002165224]	likely benign	2	241735281	241735281	Human	1	name
152067820	CV1566957	single nucleotide variant	NM_152783.5(D2HGDH):c.37C>T (p.Leu13=)	D-2-hydroxyglutaric aciduria 1 [RCV002091168]	likely benign	2	241735261	241735261	Human	1	name
152157323	CV1573190	single nucleotide variant	NM_152783.5(D2HGDH):c.93G>T (p.Leu31=)	D-2-hydroxyglutaric aciduria 1 [RCV002180304]	benign	2	241735317	241735317	Human	1	name
152137940	CV1652464	deletion	NM_152783.5(D2HGDH):c.997+18_997+19del	D-2-hydroxyglutaric aciduria 1 [RCV002083768]	likely benign	2	241750312	241750313	Human	1	name
156288259	CV1997987	single nucleotide variant	NM_152783.5(D2HGDH):c.87C>T (p.Gly29=)	D-2-hydroxyglutaric aciduria 1 [RCV002647092]	likely benign	2	241735311	241735311	Human	1	name
405006155	CV2887834	single nucleotide variant	NM_152783.5(D2HGDH):c.39G>A (p.Leu13=)	D-2-hydroxyglutaric aciduria 1 [RCV003526808]	likely benign	2	241735263	241735263	Human	1	name
405045884	CV3141605	single nucleotide variant	NM_152783.5(D2HGDH):c.43C>A (p.Arg15=)	D-2-hydroxyglutaric aciduria 1 [RCV003831706]	likely benign	2	241735267	241735267	Human	1	name
405711533	CV3225875	duplication	NM_152783.5(D2HGDH):c.10dup (p.Arg4fs)	D-2-hydroxyglutaric aciduria 1 [RCV003990934]	likely pathogenic	2	241735230	241735231	Human	1	name
127235352	CV1069398	single nucleotide variant	NM_152783.5(D2HGDH):c.198C>T (p.Asp66=)	D-2-hydroxyglutaric aciduria 1 [RCV001414424]\|not provided [RCV004711606]	likely benign	2	241735422	241735422	Human	1	name
150439314	CV1221292	duplication	NM_152783.5(D2HGDH):c.853+99_853+101dup	not provided [RCV001609986]	benign	2	241744972	241744973	Human		name
152117252	CV1566530	single nucleotide variant	NM_152783.5(D2HGDH):c.138G>A (p.Pro46=)	D-2-hydroxyglutaric aciduria 1 [RCV002153811]	likely benign	2	241735362	241735362	Human	1	name
152032941	CV1643215	single nucleotide variant	NM_152783.5(D2HGDH):c.114C>T (p.Ser38=)	D-2-hydroxyglutaric aciduria 1 [RCV002205076]	likely benign	2	241735338	241735338	Human	1	name
155986774	CV1884065	single nucleotide variant	NM_152783.5(D2HGDH):c.177C>T (p.Phe59=)	D-2-hydroxyglutaric aciduria 1 [RCV003075922]	likely benign	2	241735401	241735401	Human	1	name
156310369	CV1895325	single nucleotide variant	NM_152783.5(D2HGDH):c.204C>T (p.Ala68=)	D-2-hydroxyglutaric aciduria 1 [RCV003088408]	likely benign	2	241735428	241735428	Human	1	name
156252051	CV2117009	single nucleotide variant	NM_152783.5(D2HGDH):c.11G>T (p.Arg4Leu)	D-2-hydroxyglutaric aciduria 1 [RCV002933585]	uncertain significance	2	241735235	241735235	Human	1	name
405179633	CV2960790	single nucleotide variant	NM_152783.5(D2HGDH):c.126C>G (p.Thr42=)	D-2-hydroxyglutaric aciduria 1 [RCV003639492]	likely benign	2	241735350	241735350	Human	1	name
402493472	CV3182880	single nucleotide variant	NM_152783.5(D2HGDH):c.285G>C (p.Thr95=)	D-2-hydroxyglutaric aciduria 1 [RCV003877188]	likely benign	2	241735509	241735509	Human	1	name
597907901	CV3738784	single nucleotide variant	NM_152783.5(D2HGDH):c.180C>G (p.Ser60=)	D-2-hydroxyglutaric aciduria 1 [RCV005073019]	likely benign	2	241735404	241735404	Human	1	name
597903275	CV3804611	single nucleotide variant	NM_152783.5(D2HGDH):c.168C>T (p.Arg56=)	D-2-hydroxyglutaric aciduria 1 [RCV005153046]	likely benign	2	241735392	241735392	Human	1	name
15158489	CV747485	single nucleotide variant	NM_152783.5(D2HGDH):c.156C>T (p.Tyr52=)	D-2-hydroxyglutaric aciduria 1 [RCV002542184]	likely benign	2	241735380	241735380	Human	1	name
15134118	CV781267	single nucleotide variant	NM_152783.5(D2HGDH):c.228C>T (p.Gly76=)	D-2-hydroxyglutaric aciduria 1 [RCV001432314]	likely benign	2	241735452	241735452	Human	1	name
127319784	CV1112619	single nucleotide variant	NM_152783.5(D2HGDH):c.840C>T (p.Asn280=)	D-2-hydroxyglutaric aciduria 1 [RCV001466669]\|D2HGDH-related disorder [RCV004757450]	likely benign	2	241744864	241744864	Human	1	name , trait , alternate_id
127300222	CV1112620	single nucleotide variant	NM_152783.5(D2HGDH):c.924T>G (p.Ser308=)	D-2-hydroxyglutaric aciduria 1 [RCV001453807]	likely benign	2	241750221	241750221	Human	1	name
150509526	CV1229911	duplication	NM_152783.5(D2HGDH):c.853+100_853+101dup	not provided [RCV001636491]	benign	2	241744972	241744973	Human		name
151862832	CV1353545	single nucleotide variant	NM_152783.5(D2HGDH):c.29C>T (p.Pro10Leu)	D-2-hydroxyglutaric aciduria 1 [RCV001924223]	uncertain significance	2	241735253	241735253	Human	1	name
152168123	CV1524715	single nucleotide variant	NM_152783.5(D2HGDH):c.675C>T (p.Gly225=)	D-2-hydroxyglutaric aciduria 1 [RCV002182338]	likely benign	2	241743806	241743806	Human	1	name
152096019	CV1559721	single nucleotide variant	NM_152783.5(D2HGDH):c.930C>T (p.Phe310=)	D-2-hydroxyglutaric aciduria 1 [RCV002213367]	likely benign	2	241750227	241750227	Human	1	name
152155615	CV1560983	single nucleotide variant	NM_152783.5(D2HGDH):c.456C>A (p.Arg152=)	D-2-hydroxyglutaric aciduria 1 [RCV002102882]	likely benign	2	241742540	241742540	Human	1	name
152106547	CV1577638	single nucleotide variant	NM_152783.5(D2HGDH):c.477C>T (p.Phe159=)	D-2-hydroxyglutaric aciduria 1 [RCV002096247]	likely benign	2	241742561	241742561	Human	1	name
152161790	CV1619539	single nucleotide variant	NM_152783.5(D2HGDH):c.696C>T (p.Asp232=)	D-2-hydroxyglutaric aciduria 1 [RCV002159769]	likely benign	2	241744720	241744720	Human	1	name
152030675	CV1622289	single nucleotide variant	NM_152783.5(D2HGDH):c.600C>A (p.Ile200=)	D-2-hydroxyglutaric aciduria 1 [RCV002186528]	likely benign	2	241743731	241743731	Human	1	name
152163266	CV1635873	single nucleotide variant	NM_152783.5(D2HGDH):c.600C>T (p.Ile200=)	D-2-hydroxyglutaric aciduria 1 [RCV002203800]	likely benign	2	241743731	241743731	Human	1	name
152160313	CV1651970	single nucleotide variant	NM_152783.5(D2HGDH):c.447C>T (p.Ser149=)	D-2-hydroxyglutaric aciduria 1 [RCV002180818]	likely benign	2	241742531	241742531	Human	1	name
9682327	CV168054	single nucleotide variant	NM_152783.5(D2HGDH):c.43C>G (p.Arg15Gly)	D-2-hydroxyglutaric aciduria 1 [RCV000274007]\|not provided [RCV000428539]\|not specified [RCV000145801]	benign\|likely benign	2	241735267	241735267	Human	1	name
9682326	CV168060	single nucleotide variant	NM_152783.5(D2HGDH):c.423C>T (p.Pro141=)	D-2-hydroxyglutaric aciduria 1 [RCV000648997]\|D-2-hydroxyglutaric aciduria [RCV000278547]\|not specified [RCV000145800]	benign\|likely benign\|uncertain significance	2	241742507	241742507	Human	3	name
155799567	CV1862544	single nucleotide variant	NM_152783.5(D2HGDH):c.71G>A (p.Trp24Ter)	D-2-hydroxyglutaric aciduria 1 [RCV002471951]	pathogenic	2	241735295	241735295	Human	1	name
156418284	CV1914670	single nucleotide variant	NM_152783.5(D2HGDH):c.693C>T (p.Ala231=)	D-2-hydroxyglutaric aciduria 1 [RCV002611464]\|D2HGDH-related disorder [RCV003906537]	likely benign	2	241744717	241744717	Human	1	name , trait , alternate_id
156051591	CV1923935	single nucleotide variant	NM_152783.5(D2HGDH):c.609C>T (p.Asn203=)	D-2-hydroxyglutaric aciduria 1 [RCV002637957]	likely benign	2	241743740	241743740	Human	1	name
156395279	CV1927858	single nucleotide variant	NM_152783.5(D2HGDH):c.471C>T (p.Leu157=)	D-2-hydroxyglutaric aciduria 1 [RCV002654850]	likely benign	2	241742555	241742555	Human	1	name
156447358	CV1945003	single nucleotide variant	NM_152783.5(D2HGDH):c.615A>G (p.Ala205=)	D-2-hydroxyglutaric aciduria 1 [RCV003118886]	likely benign	2	241743746	241743746	Human	1	name
156067968	CV1952458	single nucleotide variant	NM_152783.5(D2HGDH):c.873G>A (p.Glu291=)	D-2-hydroxyglutaric aciduria 1 [RCV002569516]	likely benign	2	241750170	241750170	Human	1	name
156379962	CV1968459	single nucleotide variant	NM_152783.5(D2HGDH):c.567G>T (p.Pro189=)	D-2-hydroxyglutaric aciduria 1 [RCV002603894]	likely benign	2	241743698	241743698	Human	1	name
156027795	CV2004711	single nucleotide variant	NM_152783.5(D2HGDH):c.79C>T (p.Pro27Ser)	D-2-hydroxyglutaric aciduria 1 [RCV002658529]\|Inborn genetic diseases [RCV002639451]	uncertain significance	2	241735303	241735303	Human	2	name
156200487	CV2062920	single nucleotide variant	NM_152783.5(D2HGDH):c.357C>T (p.Cys119=)	D-2-hydroxyglutaric aciduria 1 [RCV002828920]	likely benign	2	241742441	241742441	Human	1	name
10408450	CV206982	single nucleotide variant	NM_152783.5(D2HGDH):c.327G>A (p.Ser109=)	D-2-hydroxyglutaric aciduria 1 [RCV001472487]\|not specified [RCV000194150]	likely benign\|uncertain significance	2	241741067	241741067	Human	1	name
10408486	CV206985	single nucleotide variant	NM_152783.5(D2HGDH):c.921G>T (p.Leu307=)	not specified [RCV000194410]	uncertain significance	2	241750218	241750218	Human		name
156229233	CV2085141	single nucleotide variant	NM_152783.5(D2HGDH):c.669C>T (p.Val223=)	D-2-hydroxyglutaric aciduria 1 [RCV002876172]	likely benign	2	241743800	241743800	Human	1	name
156001747	CV2106804	single nucleotide variant	NM_152783.5(D2HGDH):c.741G>A (p.Thr247=)	D-2-hydroxyglutaric aciduria 1 [RCV002947822]	likely benign	2	241744765	241744765	Human	1	name
156239214	CV2109053	single nucleotide variant	NM_152783.5(D2HGDH):c.621C>T (p.Asn207=)	D-2-hydroxyglutaric aciduria 1 [RCV002933138]	likely benign	2	241743752	241743752	Human	1	name
156263050	CV2138773	single nucleotide variant	NM_152783.5(D2HGDH):c.831G>A (p.Arg277=)	D-2-hydroxyglutaric aciduria 1 [RCV002988537]	likely benign	2	241744855	241744855	Human	1	name
156297727	CV2159267	single nucleotide variant	NM_152783.5(D2HGDH):c.537G>A (p.Arg179=)	D-2-hydroxyglutaric aciduria 1 [RCV003045406]	likely benign	2	241743668	241743668	Human	1	name
156349754	CV2305713	single nucleotide variant	NM_152783.5(D2HGDH):c.95C>T (p.Ala32Val)	Inborn genetic diseases [RCV002939683]	likely benign	2	241735319	241735319	Human	1	name
156353000	CV2324086	single nucleotide variant	NM_152783.5(D2HGDH):c.97C>T (p.Arg33Cys)	Inborn genetic diseases [RCV002940168]	uncertain significance	2	241735321	241735321	Human	1	name
11586073	CV285586	single nucleotide variant	NM_152783.5(D2HGDH):c.567G>A (p.Pro189=)	D-2-hydroxyglutaric aciduria 1 [RCV000285490]\|D2HGDH-related disorder [RCV003957729]\|not specified [RCV001821011]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	241743698	241743698	Human	1	name , trait , alternate_id
11596238	CV289003	single nucleotide variant	NM_152783.5(D2HGDH):c.540T>C (p.Tyr180=)	D-2-hydroxyglutaric aciduria 1 [RCV000379818]	uncertain significance	2	241743671	241743671	Human	1	name
405269993	CV3198017	single nucleotide variant	NM_152783.5(D2HGDH):c.915G>A (p.Glu305=)	D2HGDH-related disorder [RCV003899828]	likely benign	2	241750212	241750212	Human		name , trait , alternate_id
407452760	CV3420310	single nucleotide variant	NM_152783.5(D2HGDH):c.46G>T (p.Gly16Cys)	Inborn genetic diseases [RCV004608659]	likely benign	2	241735270	241735270	Human	1	name
597672665	CV3655018	single nucleotide variant	NM_152783.5(D2HGDH):c.56G>A (p.Gly19Glu)	Inborn genetic diseases [RCV004981519]	uncertain significance	2	241735280	241735280	Human	1	name
597948629	CV3818364	single nucleotide variant	NM_152783.5(D2HGDH):c.879G>C (p.Leu293=)	D-2-hydroxyglutaric aciduria 1 [RCV005160625]	likely benign	2	241750176	241750176	Human	1	name
597941768	CV3819373	single nucleotide variant	NM_152783.5(D2HGDH):c.438C>A (p.Ile146=)	D-2-hydroxyglutaric aciduria 1 [RCV005159183]	likely benign	2	241742522	241742522	Human	1	name
597893889	CV3833494	single nucleotide variant	NM_152783.5(D2HGDH):c.420C>T (p.Val140=)	D-2-hydroxyglutaric aciduria 1 [RCV005180186]	likely benign	2	241742504	241742504	Human	1	name
597871582	CV3835714	single nucleotide variant	NM_152783.5(D2HGDH):c.375C>T (p.Ala125=)	D-2-hydroxyglutaric aciduria 1 [RCV005176705]	likely benign	2	241742459	241742459	Human	1	name
598250675	CV3952701	single nucleotide variant	NM_152783.5(D2HGDH):c.59C>G (p.Ala20Gly)	Inborn genetic diseases [RCV005322919]	uncertain significance	2	241735283	241735283	Human	1	name
13213542	CV428030	single nucleotide variant	NM_152783.5(D2HGDH):c.432C>T (p.Asp144=)	D-2-hydroxyglutaric aciduria 1 [RCV002527231]\|not specified [RCV000500137]	benign\|likely benign	2	241742516	241742516	Human	1	name
13214373	CV428033	single nucleotide variant	NM_152783.5(D2HGDH):c.720C>A (p.Thr240=)	D-2-hydroxyglutaric aciduria 1 [RCV001081868]\|D2HGDH-related disorder [RCV004757239]\|not provided [RCV000513547]\|not specified [RCV000501189]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	241744744	241744744	Human	1	name , trait , alternate_id
15142069	CV708189	single nucleotide variant	NM_152783.5(D2HGDH):c.669C>G (p.Val223=)	not provided [RCV000966417]	likely benign	2	241743800	241743800	Human		name
15189571	CV719782	single nucleotide variant	NM_152783.5(D2HGDH):c.76C>T (p.Arg26Trp)	D-2-hydroxyglutaric aciduria 1 [RCV001436752]\|D2HGDH-related disorder [RCV003968075]\|Inborn genetic diseases [RCV002540070]\|not provided [RCV004711373]	likely benign	2	241735300	241735300	Human	2	name , trait , alternate_id
15175560	CV719783	single nucleotide variant	NM_152783.5(D2HGDH):c.990G>A (p.Pro330=)	D-2-hydroxyglutaric aciduria 1 [RCV000884396]	benign	2	241750287	241750287	Human	1	name
15167288	CV747486	single nucleotide variant	NM_152783.5(D2HGDH):c.516C>T (p.Cys172=)	D-2-hydroxyglutaric aciduria 1 [RCV002542201]	likely benign	2	241743647	241743647	Human	1	name
15129155	CV747487	single nucleotide variant	NM_152783.5(D2HGDH):c.894C>T (p.Thr298=)	not provided [RCV000919777]	likely benign	2	241750191	241750191	Human		name
15200718	CV747488	single nucleotide variant	NM_152783.5(D2HGDH):c.963C>T (p.Val321=)	D-2-hydroxyglutaric aciduria 1 [RCV000912925]	likely benign\|conflicting interpretations of pathogenicity	2	241750260	241750260	Human	1	name
15147161	CV747489	single nucleotide variant	NM_152783.5(D2HGDH):c.993G>A (p.Val331=)	not provided [RCV000922851]	likely benign	2	241750290	241750290	Human		name
26918341	CV826109	single nucleotide variant	NM_152783.5(D2HGDH):c.483C>T (p.Ser161=)	D-2-hydroxyglutaric aciduria 1 [RCV001057804]	likely benign\|uncertain significance	2	241742567	241742567	Human	1	name
28893949	CV884427	single nucleotide variant	NM_152783.5(D2HGDH):c.324G>A (p.Thr108=)	D-2-hydroxyglutaric aciduria 1 [RCV001140331]	conflicting interpretations of pathogenicity\|uncertain significance	2	241741064	241741064	Human	1	name
28898949	CV884431	single nucleotide variant	NM_152783.5(D2HGDH):c.768C>T (p.Ile256=)	D-2-hydroxyglutaric aciduria 1 [RCV001142183]\|D2HGDH-related disorder [RCV003973103]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	241744792	241744792	Human	1	name , trait , alternate_id
126772151	CV1003864	single nucleotide variant	NM_152783.5(D2HGDH):c.108C>G (p.Cys36Trp)	D-2-hydroxyglutaric aciduria 1 [RCV001323583]	uncertain significance	2	241735332	241735332	Human	1	name
151750060	CV1357336	single nucleotide variant	NM_152783.5(D2HGDH):c.290G>A (p.Arg97Gln)	D-2-hydroxyglutaric aciduria 1 [RCV001872167]\|Inborn genetic diseases [RCV004611907]	uncertain significance	2	241735514	241735514	Human	2	name
151877124	CV1390440	single nucleotide variant	NM_152783.5(D2HGDH):c.107G>T (p.Cys36Phe)	D-2-hydroxyglutaric aciduria 1 [RCV001940536]	uncertain significance	2	241735331	241735331	Human	1	name
152086606	CV1531770	single nucleotide variant	NM_152783.5(D2HGDH):c.1548G>A (p.Thr516=)	D-2-hydroxyglutaric aciduria 1 [RCV002077066]	likely benign	2	241767951	241767951	Human	1	name
152133257	CV1547091	single nucleotide variant	NM_152783.5(D2HGDH):c.1272G>T (p.Pro424=)	D-2-hydroxyglutaric aciduria 1 [RCV002155815]	likely benign	2	241755980	241755980	Human	1	name
152110013	CV1563961	single nucleotide variant	NM_152783.5(D2HGDH):c.1377C>T (p.Pro459=)	D-2-hydroxyglutaric aciduria 1 [RCV002174210]	likely benign	2	241767780	241767780	Human	1	name
152041340	CV1568395	single nucleotide variant	NM_152783.5(D2HGDH):c.1398C>T (p.Ala466=)	D-2-hydroxyglutaric aciduria 1 [RCV002107786]	likely benign	2	241767801	241767801	Human	1	name
152063654	CV1575210	single nucleotide variant	NM_152783.5(D2HGDH):c.1152C>T (p.Ala384=)	D-2-hydroxyglutaric aciduria 1 [RCV002110446]	likely benign	2	241755860	241755860	Human	1	name
152161844	CV1606226	single nucleotide variant	NM_152783.5(D2HGDH):c.1548G>T (p.Thr516=)	D-2-hydroxyglutaric aciduria 1 [RCV002181070]	likely benign	2	241767951	241767951	Human	1	name
152039657	CV1617248	single nucleotide variant	NM_152783.5(D2HGDH):c.1080C>T (p.His360=)	D-2-hydroxyglutaric aciduria 1 [RCV002087766]	likely benign	2	241751328	241751328	Human	1	name
152039979	CV1639963	single nucleotide variant	NM_152783.5(D2HGDH):c.1452C>T (p.Asp484=)	D-2-hydroxyglutaric aciduria 1 [RCV002087813]	likely benign	2	241767855	241767855	Human	1	name
152159925	CV1642296	single nucleotide variant	NM_152783.5(D2HGDH):c.1428C>T (p.His476=)	D-2-hydroxyglutaric aciduria 1 [RCV002103603]	likely benign	2	241767831	241767831	Human	1	name
9682321	CV168055	single nucleotide variant	NM_152783.5(D2HGDH):c.164G>A (p.Arg55Gln)	D-2-hydroxyglutaric aciduria 1 [RCV000333743]\|not provided [RCV000677006]\|not specified [RCV000145795]	benign\|likely benign	2	241735388	241735388	Human	1	name
9682314	CV168067	single nucleotide variant	NM_152783.5(D2HGDH):c.1107T>C (p.Asp369=)	D-2-hydroxyglutaric aciduria 1 [RCV000275955]\|not provided [RCV000677012]\|not specified [RCV000145788]	benign\|likely benign	2	241751355	241751355	Human	1	name
9682319	CV168072	single nucleotide variant	NM_152783.5(D2HGDH):c.1377C>A (p.Pro459=)	D-2-hydroxyglutaric aciduria 1 [RCV000378975]\|not provided [RCV004708061]\|not specified [RCV000145793]	benign\|likely benign	2	241767780	241767780	Human	1	name
9682320	CV168073	single nucleotide variant	NM_152783.5(D2HGDH):c.1395G>A (p.Thr465=)	D-2-hydroxyglutaric aciduria 1 [RCV001079268]\|D2HGDH-related disorder [RCV003905262]\|not provided [RCV000677013]\|not specified [RCV000145794]	benign\|likely benign	2	241767798	241767798	Human	1	name , trait , alternate_id
156152757	CV1875222	single nucleotide variant	NM_152783.5(D2HGDH):c.1356G>A (p.Ser452=)	D-2-hydroxyglutaric aciduria 1 [RCV003056594]\|D2HGDH-related disorder [RCV003926657]	likely benign	2	241767759	241767759	Human	1	name , trait , alternate_id
156117031	CV1877390	single nucleotide variant	NM_152783.5(D2HGDH):c.1419C>T (p.Ser473=)	D-2-hydroxyglutaric aciduria 1 [RCV003081279]	likely benign	2	241767822	241767822	Human	1	name
156172496	CV1881334	single nucleotide variant	NM_152783.5(D2HGDH):c.1182C>T (p.Ser394=)	D-2-hydroxyglutaric aciduria 1 [RCV003083277]	likely benign	2	241755890	241755890	Human	1	name
156297997	CV1919792	single nucleotide variant	NM_152783.5(D2HGDH):c.1152C>A (p.Ala384=)	D-2-hydroxyglutaric aciduria 1 [RCV002599033]	likely benign	2	241755860	241755860	Human	1	name
156124120	CV1933744	single nucleotide variant	NM_152783.5(D2HGDH):c.1266C>T (p.Leu422=)	D-2-hydroxyglutaric aciduria 1 [RCV002640443]\|D2HGDH-related disorder [RCV004757567]	likely benign	2	241755974	241755974	Human	1	name , trait , alternate_id
156445973	CV1950998	single nucleotide variant	NM_152783.5(D2HGDH):c.1038C>T (p.Asn346=)	D-2-hydroxyglutaric aciduria 1 [RCV003116936]	likely benign	2	241751286	241751286	Human	1	name
156325324	CV1980525	single nucleotide variant	NM_152783.5(D2HGDH):c.257A>G (p.Gln86Arg)	D-2-hydroxyglutaric aciduria 1 [RCV002630619]\|Inborn genetic diseases [RCV002605165]	uncertain significance	2	241735481	241735481	Human	2	name
156345952	CV1995213	single nucleotide variant	NM_152783.5(D2HGDH):c.1503C>G (p.Leu501=)	D-2-hydroxyglutaric aciduria 1 [RCV002650574]	likely benign	2	241767906	241767906	Human	1	name
156275669	CV2014946	duplication	NM_152783.5(D2HGDH):c.392dup (p.Asn132fs)	D-2-hydroxyglutaric aciduria 1 [RCV002715131]	pathogenic	2	241742470	241742471	Human	1	name
156309255	CV2031429	single nucleotide variant	NM_152783.5(D2HGDH):c.1212C>T (p.Leu404=)	D-2-hydroxyglutaric aciduria 1 [RCV002716435]	likely benign	2	241755920	241755920	Human	1	name
156172750	CV2041759	single nucleotide variant	NM_152783.5(D2HGDH):c.289C>G (p.Arg97Gly)	D-2-hydroxyglutaric aciduria 1 [RCV002741909]	uncertain significance	2	241735513	241735513	Human	1	name
10408340	CV206981	single nucleotide variant	NM_152783.5(D2HGDH):c.281G>C (p.Arg94Pro)	D-2-hydroxyglutaric aciduria 1 [RCV001324108]\|not specified [RCV000193301]	uncertain significance	2	241735505	241735505	Human	1	name
10408301	CV206989	single nucleotide variant	NM_152783.5(D2HGDH):c.1122C>T (p.Thr374=)	D-2-hydroxyglutaric aciduria 1 [RCV002054262]\|not specified [RCV000192969]	likely benign\|uncertain significance	2	241751370	241751370	Human	1	name
10408522	CV206991	single nucleotide variant	NM_152783.5(D2HGDH):c.1272G>A (p.Pro424=)	D-2-hydroxyglutaric aciduria 1 [RCV000892787]\|D2HGDH-related disorder [RCV003907681]\|not specified [RCV000194662]	benign\|uncertain significance	2	241755980	241755980	Human	1	name , trait , alternate_id
10408413	CV206993	single nucleotide variant	NM_152783.5(D2HGDH):c.1413C>T (p.Ser471=)	D-2-hydroxyglutaric aciduria 1 [RCV002517068]\|not specified [RCV000193885]	likely benign\|uncertain significance	2	241767816	241767816	Human	1	name
156006331	CV2127415	single nucleotide variant	NM_152783.5(D2HGDH):c.1401G>A (p.Gly467=)	D-2-hydroxyglutaric aciduria 1 [RCV002948038]	likely benign	2	241767804	241767804	Human	1	name
156093851	CV2143223	single nucleotide variant	NM_152783.5(D2HGDH):c.229G>A (p.Gly77Arg)	D-2-hydroxyglutaric aciduria 1 [RCV002979713]	uncertain significance	2	241735453	241735453	Human	1	name
156102571	CV2149190	single nucleotide variant	NM_152783.5(D2HGDH):c.273C>G (p.Asp91Glu)	D-2-hydroxyglutaric aciduria 1 [RCV003021101]	uncertain significance	2	241735497	241735497	Human	1	name
156298804	CV2159469	single nucleotide variant	NM_152783.5(D2HGDH):c.1239C>T (p.Asp413=)	D-2-hydroxyglutaric aciduria 1 [RCV003045452]	likely benign	2	241755947	241755947	Human	1	name
156254217	CV2209626	single nucleotide variant	NM_152783.5(D2HGDH):c.199C>G (p.Leu67Val)	Inborn genetic diseases [RCV002702631]	uncertain significance	2	241735423	241735423	Human	1	name
401878246	CV2774059	single nucleotide variant	NM_152783.5(D2HGDH):c.194A>G (p.Gln65Arg)	Inborn genetic diseases [RCV003363826]	uncertain significance	2	241735418	241735418	Human	1	name
11596688	CV289009	single nucleotide variant	NM_152783.5(D2HGDH):c.1476G>A (p.Pro492=)	D-2-hydroxyglutaric aciduria 1 [RCV000891891]\|not provided [RCV004709910]\|not specified [RCV001821012]	benign\|uncertain significance	2	241767879	241767879	Human	1	name
405012515	CV2900464	single nucleotide variant	NM_152783.5(D2HGDH):c.1422G>A (p.Ala474=)	D-2-hydroxyglutaric aciduria 1 [RCV003527399]	likely benign	2	241767825	241767825	Human	1	name
405179644	CV2960840	single nucleotide variant	NM_152783.5(D2HGDH):c.1398C>A (p.Ala466=)	D-2-hydroxyglutaric aciduria 1 [RCV003639493]	likely benign	2	241767801	241767801	Human	1	name
405181222	CV2974871	single nucleotide variant	NM_152783.5(D2HGDH):c.281G>T (p.Arg94Leu)	D-2-hydroxyglutaric aciduria 1 [RCV003639668]	uncertain significance	2	241735505	241735505	Human	1	name
405170627	CV3048303	single nucleotide variant	NM_152783.5(D2HGDH):c.1302C>T (p.His434=)	D-2-hydroxyglutaric aciduria 1 [RCV003638472]	likely benign	2	241756010	241756010	Human	1	name
405171588	CV3059833	single nucleotide variant	NM_152783.5(D2HGDH):c.1206C>T (p.Tyr402=)	D-2-hydroxyglutaric aciduria 1 [RCV003638560]\|D2HGDH-related disorder [RCV004757608]	likely benign	2	241755914	241755914	Human	1	name , trait , alternate_id
405122906	CV3126316	single nucleotide variant	NM_152783.5(D2HGDH):c.1284C>T (p.His428=)	D-2-hydroxyglutaric aciduria 1 [RCV003815068]	likely benign	2	241755992	241755992	Human	1	name
405187780	CV3149198	single nucleotide variant	NM_152783.5(D2HGDH):c.164G>C (p.Arg55Pro)	D-2-hydroxyglutaric aciduria 1 [RCV003843124]	uncertain significance	2	241735388	241735388	Human	1	name
405262473	CV3217667	single nucleotide variant	NM_152783.5(D2HGDH):c.1050C>T (p.Asp350=)	D-2-hydroxyglutaric aciduria 1 [RCV005103102]\|D2HGDH-related disorder [RCV003967251]	likely benign	2	241751298	241751298	Human	1	name , trait , alternate_id
405678737	CV3236528	single nucleotide variant	NM_152783.5(D2HGDH):c.128C>T (p.Pro43Leu)	Inborn genetic diseases [RCV004370679]	uncertain significance	2	241735352	241735352	Human	1	name
597852515	CV3758581	single nucleotide variant	NM_152783.5(D2HGDH):c.1251C>T (p.Asp417=)	D-2-hydroxyglutaric aciduria 1 [RCV005088140]	likely benign	2	241755959	241755959	Human	1	name
597874746	CV3836369	single nucleotide variant	NM_152783.5(D2HGDH):c.1323C>T (p.His441=)	D-2-hydroxyglutaric aciduria 1 [RCV005177166]	likely benign	2	241767726	241767726	Human	1	name
597952356	CV3843754	single nucleotide variant	NM_152783.5(D2HGDH):c.1011C>T (p.Tyr337=)	D-2-hydroxyglutaric aciduria 1 [RCV005190616]	likely benign	2	241751259	241751259	Human	1	name
597929950	CV3862278	single nucleotide variant	NM_152783.5(D2HGDH):c.1389G>A (p.Glu463=)	D-2-hydroxyglutaric aciduria 1 [RCV005206519]	likely benign	2	241767792	241767792	Human	1	name
598122965	CV3890115	single nucleotide variant	NM_152783.5(D2HGDH):c.137C>T (p.Pro46Leu)	not provided [RCV005250634]	uncertain significance	2	241735361	241735361	Human		name
598250663	CV3952699	single nucleotide variant	NM_152783.5(D2HGDH):c.110G>C (p.Cys37Ser)	Inborn genetic diseases [RCV005322917]	likely benign	2	241735334	241735334	Human	1	name
598250680	CV3952702	single nucleotide variant	NM_152783.5(D2HGDH):c.241G>T (p.Asp81Tyr)	Inborn genetic diseases [RCV005322920]	uncertain significance	2	241735465	241735465	Human	1	name
13215125	CV428028	single nucleotide variant	NM_152783.5(D2HGDH):c.202G>A (p.Ala68Thr)	not specified [RCV000501925]	uncertain significance	2	241735426	241735426	Human		name
13216219	CV428029	single nucleotide variant	NM_152783.5(D2HGDH):c.263C>T (p.Pro88Leu)	D-2-hydroxyglutaric aciduria 1 [RCV002524174]\|not specified [RCV000503397]	uncertain significance	2	241735487	241735487	Human	1	name
13214581	CV428036	single nucleotide variant	NM_152783.5(D2HGDH):c.1191C>T (p.Gly397=)	not specified [RCV000501321]	likely benign	2	241755899	241755899	Human		name
13215639	CV428037	single nucleotide variant	NM_152783.5(D2HGDH):c.1242C>T (p.Ile414=)	D-2-hydroxyglutaric aciduria 1 [RCV001498445]\|D2HGDH-related disorder [RCV003925457]\|not specified [RCV000502752]	likely benign	2	241755950	241755950	Human	1	name , trait , alternate_id
13216028	CV428039	single nucleotide variant	NM_152783.5(D2HGDH):c.1308A>G (p.Gly436=)	D-2-hydroxyglutaric aciduria 1 [RCV000887574]\|D2HGDH-related disorder [RCV004757240]\|not specified [RCV000503223]	benign\|likely benign	2	241767711	241767711	Human	1	name , trait , alternate_id
13462592	CV438827	single nucleotide variant	NM_152783.5(D2HGDH):c.188C>G (p.Ser63Cys)	D-2-hydroxyglutaric aciduria 1 [RCV001305648]\|not provided [RCV000514428]	uncertain significance	2	241735412	241735412	Human	1	name
13819509	CV560551	deletion	NM_152783.5(D2HGDH):c.642del (p.Arg215fs)	D-2-hydroxyglutaric aciduria 1 [RCV000694373]	pathogenic	2	241743772	241743772	Human	1	name
15111514	CV708190	single nucleotide variant	NM_152783.5(D2HGDH):c.1515G>A (p.Leu505=)	D-2-hydroxyglutaric aciduria 1 [RCV001137547]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	241767918	241767918	Human	1	name
15186102	CV733368	single nucleotide variant	NM_152783.5(D2HGDH):c.1383G>T (p.Val461=)	not provided [RCV000908715]	likely benign	2	241767786	241767786	Human		name
15129995	CV733369	single nucleotide variant	NM_152783.5(D2HGDH):c.1386C>T (p.Tyr462=)	D-2-hydroxyglutaric aciduria 1 [RCV000897534]\|not specified [RCV001818728]	benign\|likely benign	2	241767789	241767789	Human	1	name
15161035	CV747490	single nucleotide variant	NM_152783.5(D2HGDH):c.1275C>T (p.His425=)	D-2-hydroxyglutaric aciduria 1 [RCV002066020]	likely benign	2	241755983	241755983	Human	1	name
15145683	CV747491	single nucleotide variant	NM_152783.5(D2HGDH):c.1446G>A (p.Lys482=)	D-2-hydroxyglutaric aciduria 1 [RCV001142289]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	241767849	241767849	Human	1	name
15179429	CV763122	single nucleotide variant	NM_152783.5(D2HGDH):c.1533C>T (p.Leu511=)	not provided [RCV000929638]	likely benign	2	241767936	241767936	Human		name
28892147	CV884432	single nucleotide variant	NM_152783.5(D2HGDH):c.1083G>A (p.Ala361=)	D-2-hydroxyglutaric aciduria 1 [RCV001139662]\|Inborn genetic diseases [RCV003293897]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	241751331	241751331	Human	2	name
28894224	CV884435	single nucleotide variant	NM_152783.5(D2HGDH):c.1257C>T (p.Arg419=)	D-2-hydroxyglutaric aciduria 1 [RCV001140428]\|D2HGDH-related disorder [RCV003963077]	likely benign\|uncertain significance	2	241755965	241755965	Human	1	name , trait , alternate_id
126741782	CV1003865	single nucleotide variant	NM_152783.5(D2HGDH):c.549A>T (p.Glu183Asp)	D-2-hydroxyglutaric aciduria 1 [RCV001314570]\|not provided [RCV004727128]	uncertain significance	2	241743680	241743680	Human	1	name
126770125	CV1003867	deletion	NM_152783.5(D2HGDH):c.1393del (p.Thr465fs)	D-2-hydroxyglutaric aciduria 1 [RCV001322380]	pathogenic\|uncertain significance	2	241767796	241767796	Human	1	name
126730997	CV1019612	single nucleotide variant	NM_152783.5(D2HGDH):c.463C>T (p.Arg155Trp)	D-2-hydroxyglutaric aciduria 1 [RCV001333592]	uncertain significance	2	241742547	241742547	Human	1	name
126756979	CV1024327	single nucleotide variant	NM_152783.5(D2HGDH):c.451G>A (p.Ala151Thr)	D-2-hydroxyglutaric aciduria 1 [RCV001339434]	uncertain significance	2	241742535	241742535	Human	1	name
151781999	CV1341954	single nucleotide variant	NM_152783.5(D2HGDH):c.832G>A (p.Ala278Thr)	D-2-hydroxyglutaric aciduria 1 [RCV001897330]\|Inborn genetic diseases [RCV005330971]	uncertain significance	2	241744856	241744856	Human	2	name
151848433	CV1353112	single nucleotide variant	NM_152783.5(D2HGDH):c.746A>G (p.Tyr249Cys)	D-2-hydroxyglutaric aciduria 1 [RCV001922443]	uncertain significance	2	241744770	241744770	Human	1	name
151877692	CV1361468	single nucleotide variant	NM_152783.5(D2HGDH):c.574T>G (p.Leu192Val)	D-2-hydroxyglutaric aciduria 1 [RCV001926031]	uncertain significance	2	241743705	241743705	Human	1	name
151752786	CV1363626	single nucleotide variant	NM_152783.5(D2HGDH):c.601G>A (p.Gly201Arg)	D-2-hydroxyglutaric aciduria 1 [RCV001872432]	uncertain significance	2	241743732	241743732	Human	1	name
151760096	CV1497104	single nucleotide variant	NM_152783.5(D2HGDH):c.862G>C (p.Gly288Arg)	D-2-hydroxyglutaric aciduria 1 [RCV001987159]	uncertain significance	2	241750159	241750159	Human	1	name
9682329	CV168062	single nucleotide variant	NM_152783.5(D2HGDH):c.566C>T (p.Pro189Leu)	D-2-hydroxyglutaric aciduria 1 [RCV000145803]	pathogenic\|conflicting interpretations of pathogenicity	2	241743697	241743697	Human	1	name
8556496	CV16892	single nucleotide variant	NM_152783.5(D2HGDH):c.440T>G (p.Ile147Ser)	D-2-hydroxyglutaric aciduria 1 [RCV000001927]	pathogenic	2	241742524	241742524	Human	1	name
153349991	CV1693804	single nucleotide variant	NM_152783.5(D2HGDH):c.326C>G (p.Ser109Trp)	D-2-hydroxyglutaric aciduria 1 [RCV005095992]\|not provided [RCV002276427]	pathogenic\|likely pathogenic	2	241741066	241741066	Human	1	name
153349992	CV1693805	single nucleotide variant	NM_152783.5(D2HGDH):c.445T>C (p.Ser149Pro)	Inborn genetic diseases [RCV004047514]\|not provided [RCV002276428]	uncertain significance	2	241742529	241742529	Human	1	name
156248051	CV1890656	single nucleotide variant	NM_152783.5(D2HGDH):c.472A>G (p.Ser158Gly)	D-2-hydroxyglutaric aciduria 1 [RCV003086000]	uncertain significance	2	241742556	241742556	Human	1	name
156292654	CV1926594	single nucleotide variant	NM_152783.5(D2HGDH):c.455G>T (p.Arg152Leu)	D-2-hydroxyglutaric aciduria 1 [RCV002628879]\|Inborn genetic diseases [RCV004070730]	likely benign\|uncertain significance	2	241742539	241742539	Human	2	name
156169202	CV1971668	deletion	NM_152783.5(D2HGDH):c.1531del (p.Leu511fs)	D-2-hydroxyglutaric aciduria 1 [RCV002594718]	uncertain significance	2	241767933	241767933	Human	1	name
156202292	CV2021277	single nucleotide variant	NM_152783.5(D2HGDH):c.418G>A (p.Val140Ile)	D-2-hydroxyglutaric aciduria 1 [RCV002711443]\|Inborn genetic diseases [RCV004612241]\|not provided [RCV003481327]	likely benign\|uncertain significance	2	241742502	241742502	Human	2	name
156286591	CV2036695	single nucleotide variant	NM_152783.5(D2HGDH):c.320G>A (p.Arg107Gln)	D-2-hydroxyglutaric aciduria 1 [RCV002770586]	uncertain significance	2	241741060	241741060	Human	1	name
10408554	CV206983	single nucleotide variant	NM_152783.5(D2HGDH):c.821C>T (p.Pro274Leu)	D-2-hydroxyglutaric aciduria 1 [RCV001857692]\|not specified [RCV000194977]	uncertain significance	2	241744845	241744845	Human	1	name
10408326	CV206984	single nucleotide variant	NM_152783.5(D2HGDH):c.896G>A (p.Cys299Tyr)	not specified [RCV000193204]	uncertain significance	2	241750193	241750193	Human		name
10408212	CV206986	deletion	NM_152783.5(D2HGDH):c.1027del (p.Ser343fs)	D-2-hydroxyglutaric aciduria [RCV000192342]	pathogenic	2	241751274	241751274	Human	2	name
155953795	CV2073392	single nucleotide variant	NM_152783.5(D2HGDH):c.893C>G (p.Thr298Ser)	D-2-hydroxyglutaric aciduria 1 [RCV002816409]	uncertain significance	2	241750190	241750190	Human	1	name
156141130	CV2125773	single nucleotide variant	NM_152783.5(D2HGDH):c.800C>T (p.Thr267Met)	D-2-hydroxyglutaric aciduria 1 [RCV002954237]	uncertain significance	2	241744824	241744824	Human	1	name
155987124	CV2137014	single nucleotide variant	NM_152783.5(D2HGDH):c.509C>T (p.Ala170Val)	D-2-hydroxyglutaric aciduria 1 [RCV002996385]	uncertain significance	2	241743640	241743640	Human	1	name
156256902	CV2159268	single nucleotide variant	NM_152783.5(D2HGDH):c.841G>C (p.Val281Leu)	D-2-hydroxyglutaric aciduria 1 [RCV003026531]	uncertain significance	2	241744865	241744865	Human	1	name
156114230	CV2208884	single nucleotide variant	NM_152783.5(D2HGDH):c.326C>T (p.Ser109Leu)	Inborn genetic diseases [RCV002707406]	uncertain significance	2	241741066	241741066	Human	1	name
155979898	CV2222938	single nucleotide variant	NM_152783.5(D2HGDH):c.994C>G (p.Gln332Glu)	Inborn genetic diseases [RCV002732372]	uncertain significance	2	241750291	241750291	Human	1	name
156283950	CV2291862	single nucleotide variant	NM_152783.5(D2HGDH):c.808A>G (p.Ile270Val)	Inborn genetic diseases [RCV002896692]	uncertain significance	2	241744832	241744832	Human	1	name
156100504	CV2294717	single nucleotide variant	NM_152783.5(D2HGDH):c.973C>G (p.Leu325Val)	Inborn genetic diseases [RCV002870411]	uncertain significance	2	241750270	241750270	Human	1	name
401724231	CV2738041	single nucleotide variant	NM_152783.5(D2HGDH):c.609C>G (p.Asn203Lys)	D-2-hydroxyglutaric aciduria 1 [RCV003315213]	uncertain significance	2	241743740	241743740	Human	1	name
11585969	CV285585	single nucleotide variant	NM_152783.5(D2HGDH):c.424G>A (p.Val142Ile)	D-2-hydroxyglutaric aciduria 1 [RCV001094692]\|D-2-hydroxyglutaric aciduria [RCV000284421]\|not provided [RCV004694547]\|not specified [RCV000504439]	uncertain significance	2	241742508	241742508	Human	3	name
11592488	CV286283	single nucleotide variant	NM_152783.5(D2HGDH):c.454C>T (p.Arg152Cys)	D-2-hydroxyglutaric aciduria 1 [RCV000339269]\|Inborn genetic diseases [RCV004021806]	uncertain significance	2	241742538	241742538	Human	2	name
11597442	CV286284	single nucleotide variant	NM_152783.5(D2HGDH):c.893C>T (p.Thr298Ile)	D-2-hydroxyglutaric aciduria 1 [RCV000394340]\|Inborn genetic diseases [RCV002523127]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	241750190	241750190	Human	2	name
11653272	CV288599	single nucleotide variant	NM_152783.5(D2HGDH):c.923C>G (p.Ser308Cys)	D-2-hydroxyglutaric aciduria 1 [RCV000309838]	uncertain significance	2	241750220	241750220	Human	1	name
405008956	CV2886726	single nucleotide variant	NM_152783.5(D2HGDH):c.989C>T (p.Pro330Leu)	D-2-hydroxyglutaric aciduria 1 [RCV003527057]	uncertain significance	2	241750286	241750286	Human	1	name
405168356	CV3038212	single nucleotide variant	NM_152783.5(D2HGDH):c.658C>T (p.His220Tyr)	D-2-hydroxyglutaric aciduria 1 [RCV003638267]\|Inborn genetic diseases [RCV004980940]	uncertain significance	2	241743789	241743789	Human	2	name
405062524	CV3148425	single nucleotide variant	NM_152783.5(D2HGDH):c.685G>A (p.Val229Met)	D-2-hydroxyglutaric aciduria 1 [RCV003850381]	uncertain significance	2	241744709	241744709	Human	1	name
405248841	CV3180105	single nucleotide variant	NM_152783.5(D2HGDH):c.911G>A (p.Gly304Asp)	D-2-hydroxyglutaric aciduria 1 [RCV003869565]\|Inborn genetic diseases [RCV005323613]	uncertain significance	2	241750208	241750208	Human	2	name
408394327	CV3521885	single nucleotide variant	NM_152783.5(D2HGDH):c.523G>T (p.Glu175Ter)	D-2-hydroxyglutaric aciduria 1 [RCV004764684]	likely pathogenic	2	241743654	241743654	Human	1	name
596929834	CV3538620	single nucleotide variant	NM_152783.5(D2HGDH):c.550C>T (p.Arg184Trp)	not provided [RCV004792089]	uncertain significance	2	241743681	241743681	Human		name
596925338	CV3542023	single nucleotide variant	NM_152783.5(D2HGDH):c.457A>G (p.Met153Val)	D-2-hydroxyglutaric aciduria 1 [RCV004795738]	likely pathogenic	2	241742541	241742541	Human	1	name
597672650	CV3655015	single nucleotide variant	NM_152783.5(D2HGDH):c.826C>T (p.Pro276Ser)	Inborn genetic diseases [RCV004981516]	uncertain significance	2	241744850	241744850	Human	1	name
597672672	CV3655019	single nucleotide variant	NM_152783.5(D2HGDH):c.833C>T (p.Ala278Val)	Inborn genetic diseases [RCV004981520]	uncertain significance	2	241744857	241744857	Human	1	name
597672678	CV3655020	single nucleotide variant	NM_152783.5(D2HGDH):c.553G>C (p.Asp185His)	Inborn genetic diseases [RCV004981521]	uncertain significance	2	241743684	241743684	Human	1	name
597836438	CV3757686	single nucleotide variant	NM_152783.5(D2HGDH):c.968G>A (p.Arg323His)	D-2-hydroxyglutaric aciduria 1 [RCV005085700]	uncertain significance	2	241750265	241750265	Human	1	name
597940143	CV3836616	single nucleotide variant	NM_152783.5(D2HGDH):c.535C>T (p.Arg179Trp)	D-2-hydroxyglutaric aciduria 1 [RCV005187637]	uncertain significance	2	241743666	241743666	Human	1	name
617153238	CV4018628	single nucleotide variant	NM_152783.5(D2HGDH):c.505C>T (p.Gln169Ter)	D-2-hydroxyglutaric aciduria 1 [RCV005418890]	pathogenic	2	241743636	241743636	Human	1	name
13212153	CV425483	single nucleotide variant	NM_152783.5(D2HGDH):c.517G>A (p.Val173Ile)	D-2-hydroxyglutaric aciduria 1 [RCV000765654]\|D2HGDH-related disorder [RCV003983096]\|not provided [RCV000498418]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	241743648	241743648	Human	1	name , trait , alternate_id
13215211	CV428031	single nucleotide variant	NM_152783.5(D2HGDH):c.600C>G (p.Ile200Met)	not specified [RCV000502218]	uncertain significance	2	241743731	241743731	Human		name
13216498	CV428034	single nucleotide variant	NM_152783.5(D2HGDH):c.773C>T (p.Ser258Leu)	not specified [RCV000503720]	uncertain significance	2	241744797	241744797	Human		name
13215585	CV428035	single nucleotide variant	NM_152783.5(D2HGDH):c.841G>A (p.Val281Met)	not specified [RCV000502665]	uncertain significance	2	241744865	241744865	Human		name
13811781	CV561240	deletion	NM_152783.5(D2HGDH):c.1353del (p.Ser452fs)	D-2-hydroxyglutaric aciduria 1 [RCV000703265]	pathogenic\|uncertain significance	2	241767753	241767753	Human	1	name
14737197	CV629747	single nucleotide variant	NM_152783.5(D2HGDH):c.659A>G (p.His220Arg)	D-2-hydroxyglutaric aciduria 1 [RCV000820346]	uncertain significance	2	241743790	241743790	Human	1	name
26923083	CV826110	single nucleotide variant	NM_152783.5(D2HGDH):c.515G>A (p.Cys172Tyr)	D-2-hydroxyglutaric aciduria 1 [RCV001063278]\|not provided [RCV005253702]	likely pathogenic\|uncertain significance	2	241743646	241743646	Human	1	name
28879301	CV859150	single nucleotide variant	NM_152783.5(D2HGDH):c.540T>G (p.Tyr180Ter)	Inborn genetic diseases [RCV004978002]\|not provided [RCV001090764]	pathogenic	2	241743671	241743671	Human	1	name
28893947	CV884426	single nucleotide variant	NM_152783.5(D2HGDH):c.319C>T (p.Arg107Trp)	D-2-hydroxyglutaric aciduria 1 [RCV001140330]\|Inborn genetic diseases [RCV005318627]	uncertain significance	2	241741059	241741059	Human	2	name
28898940	CV884428	single nucleotide variant	NM_152783.5(D2HGDH):c.551G>A (p.Arg184Gln)	D-2-hydroxyglutaric aciduria 1 [RCV001142180]\|not provided [RCV001538179]	uncertain significance	2	241743682	241743682	Human	1	name
28898942	CV884429	single nucleotide variant	NM_152783.5(D2HGDH):c.634C>T (p.Arg212Trp)	D-2-hydroxyglutaric aciduria 1 [RCV001142181]\|Inborn genetic diseases [RCV002557025]	uncertain significance	2	241743765	241743765	Human	2	name
28898946	CV884430	single nucleotide variant	NM_152783.5(D2HGDH):c.697G>A (p.Gly233Ser)	D-2-hydroxyglutaric aciduria 1 [RCV001142182]	uncertain significance	2	241744721	241744721	Human	1	name
38466025	CV931262	single nucleotide variant	NM_152783.5(D2HGDH):c.740C>T (p.Thr247Met)	D-2-hydroxyglutaric aciduria 1 [RCV001212729]\|Inborn genetic diseases [RCV002561794]	uncertain significance	2	241744764	241744764	Human	2	name
126737962	CV1003866	single nucleotide variant	NM_152783.5(D2HGDH):c.1285G>A (p.Val429Met)	D-2-hydroxyglutaric aciduria 1 [RCV001314049]	uncertain significance	2	241755993	241755993	Human	1	name
150467947	CV1207179	single nucleotide variant	NM_152783.5(D2HGDH):c.1337C>T (p.Ala446Val)	D-2-hydroxyglutaric aciduria 1 [RCV003147638]\|not provided [RCV001587971]	uncertain significance	2	241767740	241767740	Human	1	name
151838696	CV1344840	single nucleotide variant	NM_152783.5(D2HGDH):c.1328A>G (p.Asn443Ser)	D-2-hydroxyglutaric aciduria 1 [RCV002015073]\|not provided [RCV004694103]	uncertain significance	2	241767731	241767731	Human	1	name
151808180	CV1423218	single nucleotide variant	NM_152783.5(D2HGDH):c.1351C>T (p.Pro451Ser)	D-2-hydroxyglutaric aciduria 1 [RCV002012174]	uncertain significance	2	241767754	241767754	Human	1	name
151884774	CV1428885	single nucleotide variant	NM_152783.5(D2HGDH):c.1243G>A (p.Val415Met)	D-2-hydroxyglutaric aciduria 1 [RCV002000347]\|Inborn genetic diseases [RCV004976060]	conflicting interpretations of pathogenicity\|uncertain significance	2	241755951	241755951	Human	2	name
151852120	CV1458937	single nucleotide variant	NM_152783.5(D2HGDH):c.1214C>T (p.Ser405Phe)	D-2-hydroxyglutaric aciduria 1 [RCV002016730]	uncertain significance	2	241755922	241755922	Human	1	name
151868792	CV1514568	single nucleotide variant	NM_152783.5(D2HGDH):c.1430G>C (p.Gly477Ala)	D-2-hydroxyglutaric aciduria 1 [RCV001998061]	uncertain significance	2	241767833	241767833	Human	1	name
9682311	CV168064	single nucleotide variant	NM_152783.5(D2HGDH):c.1012G>A (p.Val338Ile)	D-2-hydroxyglutaric aciduria 1 [RCV000345949]\|not provided [RCV000677009]\|not specified [RCV000145785]	benign\|likely benign	2	241751260	241751260	Human	1	name
9682312	CV168065	single nucleotide variant	NM_152783.5(D2HGDH):c.1066C>T (p.His356Tyr)	D-2-hydroxyglutaric aciduria 1 [RCV001085548]\|not provided [RCV000677010]\|not specified [RCV000145786]	benign\|likely benign	2	241751314	241751314	Human	1	name
9682313	CV168066	single nucleotide variant	NM_152783.5(D2HGDH):c.1082C>T (p.Ala361Val)	D-2-hydroxyglutaric aciduria 1 [RCV000370487]\|not provided [RCV000677011]\|not specified [RCV000145787]	benign\|likely benign	2	241751330	241751330	Human	1	name
9682315	CV168068	single nucleotide variant	NM_152783.5(D2HGDH):c.1184G>A (p.Arg395Gln)	D-2-hydroxyglutaric aciduria 1 [RCV000145789]	uncertain significance	2	241755892	241755892	Human	1	name
9682316	CV168069	single nucleotide variant	NM_152783.5(D2HGDH):c.1258G>A (p.Ala420Thr)	D-2-hydroxyglutaric aciduria 1 [RCV000145790]\|D2HGDH-related disorder [RCV003945167]\|not provided [RCV000513008]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	241755966	241755966	Human	1	name , trait , alternate_id
9682317	CV168070	single nucleotide variant	NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr)	D-2-hydroxyglutaric aciduria 1 [RCV000987080]\|D2HGDH-related disorder [RCV003917442]\|not provided [RCV000444247]\|not specified [RCV000145791]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	241755984	241755984	Human	2	name , trait , alternate_id
9682317	CV168070	single nucleotide variant	NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr)	D-2-hydroxyglutaric aciduria 1 [RCV000987080]\|D2HGDH-related disorder [RCV003917442]\|not provided [RCV000444247]\|not specified [RCV000145791]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	241755984	241755985	Human	2	name , trait , alternate_id
8556495	CV16891	single nucleotide variant	NM_152783.5(D2HGDH):c.1331T>C (p.Val444Ala)	D-2-hydroxyglutaric aciduria 1 [RCV000001926]	pathogenic	2	241767734	241767734	Human	1	name
8556499	CV16895	single nucleotide variant	NM_152783.5(D2HGDH):c.1315A>G (p.Asn439Asp)	D-2-hydroxyglutaric aciduria 1 [RCV000001930]	pathogenic	2	241767718	241767718	Human	1	name
8556501	CV16897	single nucleotide variant	NM_152783.5(D2HGDH):c.1123G>T (p.Asp375Tyr)	D-2-hydroxyglutaric aciduria 1 [RCV000001932]	pathogenic\|uncertain significance	2	241751371	241751371	Human	1	name
155266290	CV1699734	single nucleotide variant	NM_152783.5(D2HGDH):c.1195G>A (p.Val399Met)	D-2-hydroxyglutaric aciduria 1 [RCV003096368]\|not specified [RCV002281836]	uncertain significance	2	241755903	241755903	Human	1	name
155727710	CV1773789	single nucleotide variant	NM_152783.5(D2HGDH):c.1160A>T (p.Glu387Val)	D-2-hydroxyglutaric aciduria 1 [RCV002301555]	uncertain significance	2	241755868	241755868	Human	1	name
156403757	CV1871876	single nucleotide variant	NM_152783.5(D2HGDH):c.1271C>T (p.Pro424Leu)	D-2-hydroxyglutaric aciduria 1 [RCV003052675]	uncertain significance	2	241755979	241755979	Human	1	name
156293061	CV1892043	single nucleotide variant	NM_152783.5(D2HGDH):c.1114A>G (p.Met372Val)	D-2-hydroxyglutaric aciduria 1 [RCV003061543]	uncertain significance	2	241751362	241751362	Human	1	name
156162185	CV1925529	single nucleotide variant	NM_152783.5(D2HGDH):c.1307G>T (p.Gly436Val)	D-2-hydroxyglutaric aciduria 1 [RCV002664290]	uncertain significance	2	241767710	241767710	Human	1	name
10408373	CV206987	single nucleotide variant	NM_152783.5(D2HGDH):c.1063G>A (p.Gly355Ser)	D-2-hydroxyglutaric aciduria 1 [RCV001084317]\|not provided [RCV000514436]\|not specified [RCV000193545]	benign\|likely benign	2	241751311	241751311	Human	1	name
10408535	CV206988	single nucleotide variant	NM_152783.5(D2HGDH):c.1105G>A (p.Asp369Asn)	Inborn genetic diseases [RCV003258691]\|not specified [RCV000194769]	uncertain significance	2	241751353	241751353	Human	1	name
10408564	CV206994	single nucleotide variant	NM_152783.5(D2HGDH):c.1535A>G (p.Asn512Ser)	D-2-hydroxyglutaric aciduria 1 [RCV001852551]\|not specified [RCV000195086]	uncertain significance	2	241767938	241767938	Human	1	name
156250827	CV2116927	single nucleotide variant	NM_152783.5(D2HGDH):c.1394C>T (p.Thr465Met)	D-2-hydroxyglutaric aciduria 1 [RCV002933541]	uncertain significance	2	241767797	241767797	Human	1	name
156031098	CV2126510	single nucleotide variant	NM_152783.5(D2HGDH):c.1324C>T (p.Leu442Phe)	D-2-hydroxyglutaric aciduria 1 [RCV002949229]\|Inborn genetic diseases [RCV005321288]	uncertain significance	2	241767727	241767727	Human	2	name
155989065	CV2133444	single nucleotide variant	NM_152783.5(D2HGDH):c.1495C>G (p.Gln499Glu)	D-2-hydroxyglutaric aciduria 1 [RCV002996478]	uncertain significance	2	241767898	241767898	Human	1	name
156092600	CV2143022	single nucleotide variant	NM_152783.5(D2HGDH):c.1525G>T (p.Gly509Cys)	D-2-hydroxyglutaric aciduria 1 [RCV002979665]\|Inborn genetic diseases [RCV004614299]	uncertain significance	2	241767928	241767928	Human	2	name
401736922	CV2717839	single nucleotide variant	NM_152783.5(D2HGDH):c.1474C>G (p.Pro492Ala)	Inborn genetic diseases [RCV003273292]	uncertain significance	2	241767877	241767877	Human	1	name
401889494	CV2756633	single nucleotide variant	NM_152783.5(D2HGDH):c.1475C>T (p.Pro492Leu)	Inborn genetic diseases [RCV003353948]	uncertain significance	2	241767878	241767878	Human	1	name
401878406	CV2774293	single nucleotide variant	NM_152783.5(D2HGDH):c.1229G>A (p.Arg410Gln)	Inborn genetic diseases [RCV003363890]	uncertain significance	2	241755937	241755937	Human	1	name
401961509	CV2843853	single nucleotide variant	NM_152783.5(D2HGDH):c.1261C>T (p.Arg421Cys)	Inborn genetic diseases [RCV004364838]\|not provided [RCV003481692]	uncertain significance	2	241755969	241755969	Human	1	name
401963850	CV2844883	single nucleotide variant	NM_152783.5(D2HGDH):c.1015C>T (p.Leu339Phe)	D-2-hydroxyglutaric aciduria 1 [RCV003484459]	not provided	2	241751263	241751263	Human		name
11593960	CV285591	single nucleotide variant	NM_152783.5(D2HGDH):c.1183C>T (p.Arg395Trp)	D-2-hydroxyglutaric aciduria 1 [RCV001082053]\|not provided [RCV000498804]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	241755891	241755891	Human	1	name
11590966	CV286299	single nucleotide variant	NM_152783.5(D2HGDH):c.1357C>T (p.Leu453Phe)	D-2-hydroxyglutaric aciduria 1 [RCV000648996]\|D2HGDH-related disorder [RCV004757207]\|not specified [RCV000499472]	likely benign\|uncertain significance	2	241767760	241767760	Human	1	name , trait , alternate_id
11586850	CV286301	single nucleotide variant	NM_152783.5(D2HGDH):c.1502T>C (p.Leu501Pro)	D-2-hydroxyglutaric aciduria 1 [RCV000290944]	uncertain significance	2	241767905	241767905	Human	1	name
11583022	CV288601	single nucleotide variant	NM_152783.5(D2HGDH):c.1199A>G (p.Tyr400Cys)	D-2-hydroxyglutaric aciduria 1 [RCV000263667]\|Inborn genetic diseases [RCV002523128]\|not provided [RCV001509207]	uncertain significance	2	241755907	241755907	Human	2	name
11593037	CV288607	single nucleotide variant	NM_152783.5(D2HGDH):c.1453G>A (p.Val485Ile)	D-2-hydroxyglutaric aciduria 1 [RCV000344675]\|D2HGDH-related disorder [RCV003957730]\|Inborn genetic diseases [RCV004021807]\|not provided [RCV000513354]	conflicting interpretations of pathogenicity\|uncertain significance	2	241767856	241767856	Human	2	name , trait , alternate_id
11597625	CV288608	single nucleotide variant	NM_152783.5(D2HGDH):c.1523A>G (p.Lys508Arg)	D-2-hydroxyglutaric aciduria 1 [RCV000396207]	uncertain significance	2	241767926	241767926	Human	1	name
11590046	CV288611	single nucleotide variant	NM_152783.5(D2HGDH):c.1547C>T (p.Thr516Met)	D-2-hydroxyglutaric aciduria 1 [RCV000315337]\|not specified [RCV000500582]	uncertain significance	2	241767950	241767950	Human	1	name
11593627	CV289011	single nucleotide variant	NM_152783.5(D2HGDH):c.1505A>G (p.Lys502Arg)	D-2-hydroxyglutaric aciduria 1 [RCV000350539]	uncertain significance	2	241767908	241767908	Human	1	name
405009793	CV2894023	single nucleotide variant	NM_152783.5(D2HGDH):c.1018A>G (p.Ile340Val)	D-2-hydroxyglutaric aciduria 1 [RCV003527137]	uncertain significance	2	241751266	241751266	Human	1	name
405678732	CV3236527	single nucleotide variant	NM_152783.5(D2HGDH):c.1253T>G (p.Leu418Arg)	Inborn genetic diseases [RCV004370678]	uncertain significance	2	241755961	241755961	Human	1	name
405678748	CV3236530	single nucleotide variant	NM_152783.5(D2HGDH):c.1318C>G (p.Leu440Val)	Inborn genetic diseases [RCV004370681]	uncertain significance	2	241767721	241767721	Human	1	name
405678753	CV3236531	single nucleotide variant	NM_152783.5(D2HGDH):c.1556G>C (p.Ser519Thr)	Inborn genetic diseases [RCV004370682]	uncertain significance	2	241767959	241767959	Human	1	name
596920755	CV3534231	single nucleotide variant	NM_152783.5(D2HGDH):c.1414G>A (p.Val472Ile)	not specified [RCV004783450]	uncertain significance	2	241767817	241767817	Human		name
596929837	CV3538621	single nucleotide variant	NM_152783.5(D2HGDH):c.1486C>T (p.Gln496Ter)	not provided [RCV004792090]	uncertain significance	2	241767889	241767889	Human		name
596938757	CV3549797	single nucleotide variant	NM_152783.5(D2HGDH):c.1355C>T (p.Ser452Leu)	not provided [RCV004812838]	uncertain significance	2	241767758	241767758	Human		name
597672660	CV3655017	single nucleotide variant	NM_152783.5(D2HGDH):c.1412G>A (p.Ser471Asn)	Inborn genetic diseases [RCV004981518]	uncertain significance	2	241767815	241767815	Human	1	name
597772821	CV3716910	single nucleotide variant	NM_152783.5(D2HGDH):c.1055A>G (p.Glu352Gly)	D-2-hydroxyglutaric aciduria 1 [RCV005020905]	uncertain significance	2	241751303	241751303	Human	1	name
598250655	CV3952696	single nucleotide variant	NM_152783.5(D2HGDH):c.1525G>A (p.Gly509Ser)	Inborn genetic diseases [RCV005322915]	uncertain significance	2	241767928	241767928	Human	1	name
598250660	CV3952697	single nucleotide variant	NM_152783.5(D2HGDH):c.1018A>C (p.Ile340Leu)	Inborn genetic diseases [RCV005322916]	uncertain significance	2	241751266	241751266	Human	1	name
598160477	CV3952698	single nucleotide variant	NM_152783.5(D2HGDH):c.1475C>G (p.Pro492Arg)	Inborn genetic diseases [RCV005328782]	uncertain significance	2	241767878	241767878	Human	1	name
13214938	CV428038	single nucleotide variant	NM_152783.5(D2HGDH):c.1267G>A (p.Gly423Ser)	Inborn genetic diseases [RCV002527232]\|not provided [RCV004772943]\|not specified [RCV000501826]	uncertain significance	2	241755975	241755975	Human	1	name
13214747	CV428040	single nucleotide variant	NM_152783.5(D2HGDH):c.1387G>A (p.Glu463Lys)	D-2-hydroxyglutaric aciduria 1 [RCV001426967]\|D2HGDH-related disorder [RCV003915370]\|not specified [RCV000501644]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	241767790	241767790	Human	1	name , trait , alternate_id
14693199	CV620075	single nucleotide variant	NM_152783.5(D2HGDH):c.1256G>A (p.Arg419His)	D-2-hydroxyglutaric aciduria 1 [RCV000778606]\|D2HGDH-related disorder [RCV004757279]	likely pathogenic\|uncertain significance	2	241755964	241755964	Human	1	name , trait , alternate_id
14735910	CV629748	single nucleotide variant	NM_152783.5(D2HGDH):c.1127A>G (p.Gln376Arg)	D-2-hydroxyglutaric aciduria 1 [RCV000803386]	uncertain significance	2	241751375	241751375	Human	1	name
14737713	CV629749	single nucleotide variant	NM_152783.5(D2HGDH):c.1370T>C (p.Leu457Pro)	D-2-hydroxyglutaric aciduria 1 [RCV000804179]	uncertain significance	2	241767773	241767773	Human	1	name
14709265	CV629750	single nucleotide variant	NM_152783.5(D2HGDH):c.1421C>T (p.Ala474Val)	D-2-hydroxyglutaric aciduria 1 [RCV000809282]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	2	241767824	241767824	Human	1	name
21068093	CV795202	single nucleotide variant	NM_152783.5(D2HGDH):c.1255C>T (p.Arg419Cys)	D-2-hydroxyglutaric aciduria 1 [RCV003526024]\|D2HGDH-related disorder [RCV003898020]\|not provided [RCV000997716]\|not specified [RCV005056735]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	2	241755963	241755963	Human	1	name , trait , alternate_id
26899970	CV826111	single nucleotide variant	NM_152783.5(D2HGDH):c.1039G>A (p.Ala347Thr)	D-2-hydroxyglutaric aciduria 1 [RCV001035164]\|Inborn genetic diseases [RCV002552082]	uncertain significance	2	241751287	241751287	Human	2	name
28894219	CV884433	single nucleotide variant	NM_152783.5(D2HGDH):c.1220C>T (p.Pro407Leu)	D-2-hydroxyglutaric aciduria 1 [RCV001140426]	uncertain significance	2	241755928	241755928	Human	1	name
28894222	CV884434	single nucleotide variant	NM_152783.5(D2HGDH):c.1252C>G (p.Leu418Val)	D-2-hydroxyglutaric aciduria 1 [RCV001140427]	uncertain significance	2	241755960	241755960	Human	1	name
28894226	CV884436	single nucleotide variant	NM_152783.5(D2HGDH):c.1262G>A (p.Arg421His)	D-2-hydroxyglutaric aciduria 1 [RCV001140429]\|Inborn genetic diseases [RCV002556992]\|not provided [RCV004792738]	uncertain significance	2	241755970	241755970	Human	2	name
38489284	CV922676	single nucleotide variant	NM_152783.5(D2HGDH):c.1054G>C (p.Glu352Gln)	D-2-hydroxyglutaric aciduria 1 [RCV001221548]	uncertain significance	2	241751302	241751302	Human	1	name
38475127	CV931263	single nucleotide variant	NM_152783.5(D2HGDH):c.1334C>T (p.Thr445Met)	D-2-hydroxyglutaric aciduria 1 [RCV001204136]\|not provided [RCV005250146]	uncertain significance	2	241767737	241767737	Human	1	name
38465589	CV961758	single nucleotide variant	NM_152783.5(D2HGDH):c.1528A>G (p.Ile510Val)	D-2-hydroxyglutaric aciduria 1 [RCV001250087]	uncertain significance	2	241767931	241767931	Human	1	name
126760117	CV988569	single nucleotide variant	NM_152783.5(D2HGDH):c.1064G>A (p.Gly355Asp)	D-2-hydroxyglutaric aciduria 1 [RCV001299699]	uncertain significance	2	241751312	241751312	Human	1	name
8556500	CV16896	duplication	NM_152783.5(D2HGDH):c.325_326dup (p.Glu110fs)	D-2-hydroxyglutaric aciduria 1 [RCV000001931]	pathogenic	2	241741064	241741065	Human	1	name
150554628	CV1304344	duplication	NM_152783.5(D2HGDH):c.534_536dup (p.Arg179dup)	not provided [RCV001771314]	uncertain significance	2	241743663	241743664	Human		name
156225088	CV2064259	insertion	NM_152783.5(D2HGDH):c.887_888insGG (p.Phe296fs)	D-2-hydroxyglutaric aciduria 1 [RCV002829837]	pathogenic	2	241750184	241750185	Human	1	name
151826255	CV1392249	indel	NM_152783.5(D2HGDH):c.103_104delinsAA (p.Gly35Asn)	D-2-hydroxyglutaric aciduria 1 [RCV001879683]	uncertain significance	2	241735327	241735328	Human		name
156089837	CV1983991	duplication	NM_152783.5(D2HGDH):c.964_984dup (p.Ala328_Ser329insGlyArgHisLeuHisLeuAla)	D-2-hydroxyglutaric aciduria 1 [RCV002621820]	uncertain significance	2	241750259	241750260	Human	1	name

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