Dlat Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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376 records found for search term Dlat

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11611620	CV318247	single nucleotide variant	NM_001931.4(DLAT):c.-90G>C	Pyruvate dehydrogenase complex deficiency [RCV000397514]	uncertain significance	11	112025383	112025383	Human	1	name
11618211	CV324383	single nucleotide variant	NM_001931.5(DLAT):c.*96C>A	not provided [RCV001638710]	benign\|likely benign	11	112062631	112062631	Human		name
12842688	CV373882	single nucleotide variant	NM_001931.5(DLAT):c.-15G>A	not provided [RCV001705563]	likely benign	11	112025458	112025458	Human		name
11610710	CV312353	single nucleotide variant	NM_001931.4(DLAT):c.-222C>T	Pyruvate dehydrogenase complex deficiency [RCV000385162]	uncertain significance	11	112025251	112025251	Human	1	name
11609256	CV312377	single nucleotide variant	NM_001931.5(DLAT):c.*168G>A	Pyruvate dehydrogenase complex deficiency [RCV000366084]	uncertain significance	11	112062703	112062703	Human	1	name
11610080	CV312378	single nucleotide variant	NM_001931.5(DLAT):c.*873T>C	Pyruvate dehydrogenase complex deficiency [RCV000376420]	likely benign	11	112063408	112063408	Human	1	name
11599429	CV312380	single nucleotide variant	NM_001931.5(DLAT):c.*920A>G	Pyruvate dehydrogenase complex deficiency [RCV000265467]	uncertain significance	11	112063455	112063455	Human	1	name
11608637	CV318237	single nucleotide variant	NM_001931.4(DLAT):c.-647C>A	Pyruvate dehydrogenase complex deficiency [RCV000357813]	uncertain significance	11	112024826	112024826	Human	1	name
11598739	CV318238	single nucleotide variant	NM_001931.4(DLAT):c.-572G>A	Pyruvate dehydrogenase complex deficiency [RCV000259447]	uncertain significance	11	112024901	112024901	Human	1	name
11656383	CV318240	single nucleotide variant	NM_001931.4(DLAT):c.-500C>T	Pyruvate dehydrogenase complex deficiency [RCV000333156]	uncertain significance	11	112024973	112024973	Human	1	name
11662590	CV318244	single nucleotide variant	NM_001931.4(DLAT):c.-471C>T	Pyruvate dehydrogenase complex deficiency [RCV000387646]	uncertain significance	11	112025002	112025002	Human	1	name
11657563	CV318245	single nucleotide variant	NM_001931.4(DLAT):c.-137G>A	Pyruvate dehydrogenase complex deficiency [RCV000342380]	uncertain significance	11	112025336	112025336	Human	1	name
11659940	CV318257	single nucleotide variant	NM_001931.5(DLAT):c.*246A>G	Pyruvate dehydrogenase complex deficiency [RCV000362771]	uncertain significance	11	112062781	112062781	Human	1	name
11599599	CV318259	single nucleotide variant	NM_001931.5(DLAT):c.*419A>G	Pyruvate dehydrogenase complex deficiency [RCV000266761]	benign	11	112062954	112062954	Human	1	name
11621919	CV324374	single nucleotide variant	NM_001931.4(DLAT):c.-590G>A	Pyruvate dehydrogenase complex deficiency [RCV000354212]	uncertain significance	11	112024883	112024883	Human	1	name
11619797	CV324377	single nucleotide variant	NM_001931.4(DLAT):c.-338T>C	Pyruvate dehydrogenase complex deficiency [RCV000329709]	uncertain significance	11	112025135	112025135	Human	1	name
11621187	CV324378	single nucleotide variant	NM_001931.4(DLAT):c.-203C>T	Pyruvate dehydrogenase complex deficiency [RCV000345684]	uncertain significance	11	112025270	112025270	Human	1	name
11617805	CV324390	single nucleotide variant	NM_001931.5(DLAT):c.*243T>C	Pyruvate dehydrogenase complex deficiency [RCV000308053]	uncertain significance	11	112062778	112062778	Human	1	name
11650502	CV325073	single nucleotide variant	NM_001931.4(DLAT):c.-383T>A	Pyruvate dehydrogenase complex deficiency [RCV000293397]	uncertain significance	11	112025090	112025090	Human	1	name
11615959	CV325075	single nucleotide variant	NM_001931.4(DLAT):c.-212C>G	Pyruvate dehydrogenase complex deficiency [RCV000290756]	uncertain significance	11	112025261	112025261	Human	1	name
11646549	CV325128	single nucleotide variant	NM_001931.5(DLAT):c.*220T>C	Pyruvate dehydrogenase complex deficiency [RCV000271616]	uncertain significance	11	112062755	112062755	Human	1	name
11619359	CV325129	single nucleotide variant	NM_001931.5(DLAT):c.*622C>A	Pyruvate dehydrogenase complex deficiency [RCV000324206]	uncertain significance	11	112063157	112063157	Human	1	name
11654501	CV325130	single nucleotide variant	NM_001931.5(DLAT):c.*981G>A	Pyruvate dehydrogenase complex deficiency [RCV000318250]	uncertain significance	11	112063516	112063516	Human	1	name
14713720	CV665560	single nucleotide variant	NM_001931.4(DLAT):c.-944A>T	not provided [RCV000828800]	benign	11	112024529	112024529	Human		name
14713737	CV665564	single nucleotide variant	NM_001931.4(DLAT):c.-943G>T	not provided [RCV000828805]	benign	11	112024530	112024530	Human	3	name
14713737	CV665564	single nucleotide variant	NM_001931.4(DLAT):c.-943G>T	not provided [RCV000828805]	benign	11	112024530	112024531	Human	3	name
151848076	CV1450848	single nucleotide variant	NM_001931.5(DLAT):c.381+6T>G	Pyruvate dehydrogenase E2 deficiency [RCV001957604]	uncertain significance	11	112026305	112026305	Human	1	name
152063731	CV1535664	single nucleotide variant	NM_001931.5(DLAT):c.381+8T>G	Pyruvate dehydrogenase E2 deficiency [RCV002168332]	likely benign	11	112026307	112026307	Human	1	name
152062589	CV1587581	single nucleotide variant	NM_001931.5(DLAT):c.381+7T>A	Pyruvate dehydrogenase E2 deficiency [RCV002090436]	likely benign	11	112026306	112026306	Human	1	name
152046720	CV1600411	single nucleotide variant	NM_001931.5(DLAT):c.506+9T>C	Pyruvate dehydrogenase E2 deficiency [RCV002088633]	likely benign	11	112028648	112028648	Human	1	name
152113601	CV1605917	single nucleotide variant	NM_001931.5(DLAT):c.381+9T>G	Pyruvate dehydrogenase E2 deficiency [RCV002116884]	likely benign	11	112026308	112026308	Human	1	name
152980479	CV1678633	single nucleotide variant	NM_001931.5(DLAT):c.788-5T>A	not specified [RCV002247141]	uncertain significance	11	112037268	112037268	Human		name
156284129	CV2134008	single nucleotide variant	NM_001931.5(DLAT):c.975+4G>A	Pyruvate dehydrogenase E2 deficiency [RCV003009703]	uncertain significance	11	112037464	112037464	Human	1	name
405048238	CV2944479	single nucleotide variant	NM_001931.5(DLAT):c.381+1G>T	Pyruvate dehydrogenase E2 deficiency [RCV003603261]	likely pathogenic	11	112026300	112026300	Human	1	name
11610919	CV312384	single nucleotide variant	NM_001931.5(DLAT):c.*1318A>G	Pyruvate dehydrogenase complex deficiency [RCV000387829]	uncertain significance	11	112063853	112063853	Human	1	name
11609953	CV318261	single nucleotide variant	NM_001931.5(DLAT):c.*1109C>T	Pyruvate dehydrogenase complex deficiency [RCV000375078]	likely benign	11	112063644	112063644	Human	1	name
11602999	CV318262	single nucleotide variant	NM_001931.5(DLAT):c.*1375T>C	Pyruvate dehydrogenase complex deficiency [RCV000295682]	uncertain significance	11	112063910	112063910	Human	1	name
11607870	CV318263	single nucleotide variant	NM_001931.5(DLAT):c.*1595G>A	Pyruvate dehydrogenase complex deficiency [RCV000348292]	uncertain significance	11	112064130	112064130	Human	1	name
11620353	CV324402	single nucleotide variant	NM_001931.5(DLAT):c.*1248G>C	Pyruvate dehydrogenase complex deficiency [RCV000335705]	benign	11	112063783	112063783	Human	1	name
11663307	CV325131	single nucleotide variant	NM_001931.5(DLAT):c.*1704A>G	Pyruvate dehydrogenase complex deficiency [RCV000394754]	uncertain significance	11	112064239	112064239	Human	1	name
597874632	CV3766197	single nucleotide variant	NM_001931.5(DLAT):c.661-6C>T	Pyruvate dehydrogenase E2 deficiency [RCV005108329]	likely benign	11	112033398	112033398	Human	1	name
13211819	CV425901	single nucleotide variant	NM_001931.5(DLAT):c.976-1G>A	Pyruvate dehydrogenase E2 deficiency [RCV001196727]\|not provided [RCV000497952]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	11	112039243	112039243	Human	1	name
13435878	CV433492	single nucleotide variant	NM_001931.5(DLAT):c.381+5G>T	not specified [RCV000506160]	benign	11	112026304	112026304	Human		name
13436426	CV433493	deletion	NM_001931.5(DLAT):c.976-2del	Pyruvate dehydrogenase E2 deficiency [RCV003497855]\|not specified [RCV000507144]	likely benign\|uncertain significance	11	112039239	112039239	Human	1	name
127311759	CV1156565	single nucleotide variant	NM_001931.5(DLAT):c.975+16G>T	Pyruvate dehydrogenase E2 deficiency [RCV001518740]\|not provided [RCV001720293]	benign	11	112037476	112037476	Human	1	name
150420011	CV1180759	single nucleotide variant	NM_001931.5(DLAT):c.279+39T>C	not provided [RCV001551338]	likely benign	11	112025790	112025790	Human		name
150418672	CV1180760	single nucleotide variant	NM_001931.5(DLAT):c.976-58C>T	not provided [RCV001550703]	likely benign	11	112039186	112039186	Human		name
150412773	CV1191148	single nucleotide variant	NM_001931.5(DLAT):c.660+83A>C	not provided [RCV001567011]	likely benign	11	112029028	112029028	Human		name
150450274	CV1205254	single nucleotide variant	NM_001931.5(DLAT):c.279+56G>A	not provided [RCV001585154]	likely benign	11	112025807	112025807	Human		name
150506683	CV1210983	single nucleotide variant	NM_001931.5(DLAT):c.279+49A>G	not provided [RCV001596101]	likely benign	11	112025800	112025800	Human		name
150506964	CV1226474	single nucleotide variant	NM_001931.5(DLAT):c.381+22T>A	not provided [RCV001635842]	benign	11	112026321	112026321	Human		name
150467462	CV1240883	single nucleotide variant	NM_001931.5(DLAT):c.381+27A>T	not provided [RCV001650341]	benign	11	112026326	112026326	Human		name
150447122	CV1250777	deletion	NM_001931.5(DLAT):c.382-70del	not provided [RCV001667282]	benign	11	112028421	112028421	Human		name
150485770	CV1280830	single nucleotide variant	NM_001931.5(DLAT):c.661-56T>C	not provided [RCV001715664]	benign	11	112033348	112033348	Human		name
151800460	CV1382036	single nucleotide variant	NM_001931.5(DLAT):c.1677+4G>C	Pyruvate dehydrogenase E2 deficiency [RCV001952875]	uncertain significance	11	112060069	112060069	Human	1	name
8690837	CV140791	single nucleotide variant	NM_001931.5(DLAT):c.506+11C>T	Pyruvate dehydrogenase E2 deficiency [RCV001519937]\|not provided [RCV004706567]\|not specified [RCV000124683]	benign\|uncertain significance	11	112028650	112028650	Human	1	name
152130604	CV1519809	single nucleotide variant	NM_001931.5(DLAT):c.280-15C>T	Pyruvate dehydrogenase E2 deficiency [RCV002155480]	likely benign	11	112026183	112026183	Human	1	name
152060041	CV1540567	deletion	NM_001931.5(DLAT):c.1678-8del	Pyruvate dehydrogenase E2 deficiency [RCV002110001]	benign	11	112061023	112061023	Human	1	name
152091110	CV1629156	single nucleotide variant	NM_001931.5(DLAT):c.975+13C>T	Pyruvate dehydrogenase E2 deficiency [RCV002114088]	likely benign	11	112037473	112037473	Human	1	name
152170171	CV1663047	single nucleotide variant	NM_001931.5(DLAT):c.1678-7C>T	DLAT-related disorder [RCV003903450]\|Pyruvate dehydrogenase E2 deficiency [RCV002183060]	likely benign	11	112061031	112061031	Human	1	name , trait , alternate_id
152078328	CV1666065	single nucleotide variant	NM_001931.5(DLAT):c.507-12T>G	Pyruvate dehydrogenase E2 deficiency [RCV002092523]	likely benign	11	112028780	112028780	Human	1	name
156362646	CV1881389	single nucleotide variant	NM_001931.5(DLAT):c.1515-7T>A	Pyruvate dehydrogenase E2 deficiency [RCV003065728]	likely benign	11	112059896	112059896	Human	1	name
156022483	CV1911688	single nucleotide variant	NM_001931.5(DLAT):c.1677+9T>C	Pyruvate dehydrogenase E2 deficiency [RCV002636774]	likely benign	11	112060074	112060074	Human	1	name
155935561	CV2114120	duplication	NM_001931.5(DLAT):c.279+18dup	Pyruvate dehydrogenase E2 deficiency [RCV002904107]	benign	11	112025763	112025764	Human	1	name
156313994	CV2120209	single nucleotide variant	NM_001931.5(DLAT):c.382-16C>T	Pyruvate dehydrogenase E2 deficiency [RCV002962784]	likely benign	11	112028499	112028499	Human	1	name
156229653	CV2176680	single nucleotide variant	NM_001931.5(DLAT):c.1130-6T>G	Pyruvate dehydrogenase E2 deficiency [RCV003059255]\|not provided [RCV004765629]	uncertain significance	11	112043460	112043460	Human	1	name
405108478	CV2856171	single nucleotide variant	NM_001931.5(DLAT):c.382-19C>G	Pyruvate dehydrogenase E2 deficiency [RCV003498815]	likely benign	11	112028496	112028496	Human	1	name
405112471	CV2891568	single nucleotide variant	NM_001931.5(DLAT):c.507-16T>A	Pyruvate dehydrogenase E2 deficiency [RCV003499540]	likely benign	11	112028776	112028776	Human	1	name
405108079	CV2922011	single nucleotide variant	NM_001931.5(DLAT):c.279+18C>T	Pyruvate dehydrogenase E2 deficiency [RCV003498707]	likely benign	11	112025769	112025769	Human	1	name
405107523	CV2924845	single nucleotide variant	NM_001931.5(DLAT):c.1291-8G>C	Pyruvate dehydrogenase E2 deficiency [RCV003498579]	likely benign	11	112045855	112045855	Human	1	name
405042488	CV3042314	single nucleotide variant	NM_001931.5(DLAT):c.976-13T>G	Pyruvate dehydrogenase E2 deficiency [RCV003602791]	likely benign	11	112039231	112039231	Human	1	name
404991675	CV3072034	single nucleotide variant	NM_001931.5(DLAT):c.660+19G>C	Pyruvate dehydrogenase E2 deficiency [RCV003604538]	likely benign	11	112028964	112028964	Human	1	name
11656709	CV312370	single nucleotide variant	NM_001931.5(DLAT):c.1290+5G>A	Pyruvate dehydrogenase E2 deficiency [RCV002034399]	uncertain significance	11	112045235	112045235	Human	1	name
405266365	CV3201971	single nucleotide variant	NM_001931.5(DLAT):c.1677+9T>G	DLAT-related disorder [RCV003911455]	likely benign	11	112060074	112060074	Human		name , trait , alternate_id
11623137	CV324380	single nucleotide variant	NM_001931.5(DLAT):c.506+12G>A	Pyruvate dehydrogenase E2 deficiency [RCV002056172]\|not specified [RCV000444820]	likely benign\|uncertain significance	11	112028651	112028651	Human	1	name
12836186	CV371255	single nucleotide variant	NM_001931.5(DLAT):c.279+13C>A	Pyruvate dehydrogenase E2 deficiency [RCV002062565]\|not specified [RCV000422967]	likely benign	11	112025764	112025764	Human	1	name
597674085	CV3723574	single nucleotide variant	NM_001931.5(DLAT):c.1515-1G>T	Pyruvate dehydrogenase E2 deficiency [RCV005044312]	likely pathogenic	11	112059902	112059902	Human	1	name
597951426	CV3843302	single nucleotide variant	NM_001931.5(DLAT):c.1129+9G>A	Pyruvate dehydrogenase E2 deficiency [RCV005190352]	likely benign	11	112039406	112039406	Human	1	name
13211758	CV425902	single nucleotide variant	NM_001931.5(DLAT):c.1129+2T>C	not provided [RCV000497872]	likely pathogenic	11	112039399	112039399	Human		name
13539223	CV503138	single nucleotide variant	NM_001931.5(DLAT):c.976-15A>T	Pyruvate dehydrogenase E2 deficiency [RCV002528807]\|not specified [RCV000612982]	likely benign	11	112039229	112039229	Human	1	name
13525176	CV503701	single nucleotide variant	NM_001931.5(DLAT):c.1677+8A>G	Pyruvate dehydrogenase E2 deficiency [RCV001471028]\|not specified [RCV000602801]	likely benign	11	112060073	112060073	Human	1	name
13788205	CV549973	duplication	NM_001931.5(DLAT):c.381+22dup	not provided [RCV000676205]\|not specified [RCV001727793]	benign\|likely benign	11	112026304	112026305	Human		name
15097894	CV775627	single nucleotide variant	NM_001931.5(DLAT):c.1197+9T>C	not provided [RCV000936152]	likely benign	11	112043542	112043542	Human		name
150330823	CV1169432	single nucleotide variant	NM_001931.5(DLAT):c.1515-51C>T	not provided [RCV001536150]	benign	11	112059852	112059852	Human		name
150429250	CV1187671	single nucleotide variant	NM_001931.5(DLAT):c.1515-93A>T	not provided [RCV001563347]	likely benign	11	112059810	112059810	Human		name
150421312	CV1194434	single nucleotide variant	NM_001931.5(DLAT):c.787+259C>T	not provided [RCV001570492]	likely benign	11	112033789	112033789	Human		name
150414749	CV1198136	single nucleotide variant	NM_001931.5(DLAT):c.788-195A>G	not provided [RCV001575098]	likely benign	11	112037078	112037078	Human		name
150481830	CV1209859	single nucleotide variant	NM_001931.5(DLAT):c.976-115G>A	not provided [RCV001590557]	likely benign	11	112039129	112039129	Human		name
150434506	CV1215906	single nucleotide variant	NM_001931.5(DLAT):c.1399-65C>T	not provided [RCV001609094]	benign	11	112051169	112051169	Human		name
150440711	CV1220202	deletion	NM_001931.5(DLAT):c.1290+49del	not provided [RCV001610185]	benign	11	112045278	112045278	Human		name
150467997	CV1240972	single nucleotide variant	NM_001931.5(DLAT):c.1815-42A>G	not provided [RCV001650430]	benign	11	112062364	112062364	Human		name
150443229	CV1249249	duplication	NM_001931.5(DLAT):c.1198-85dup	not provided [RCV001666681]	benign	11	112045041	112045042	Human		name
150500391	CV1256089	single nucleotide variant	NM_001931.5(DLAT):c.661-133T>C	not provided [RCV001676713]	benign	11	112033271	112033271	Human		name
150455995	CV1278437	single nucleotide variant	NM_001931.5(DLAT):c.661-285G>A	not provided [RCV001709052]	benign	11	112033119	112033119	Human		name
150478672	CV1282031	single nucleotide variant	NM_001931.5(DLAT):c.280-121T>C	not provided [RCV001714335]	benign	11	112026077	112026077	Human		name
150489043	CV1284153	single nucleotide variant	NM_001931.5(DLAT):c.976-149C>A	not provided [RCV001716206]	benign	11	112039095	112039095	Human		name
152114258	CV1559380	single nucleotide variant	NM_001931.5(DLAT):c.1197+17T>A	Pyruvate dehydrogenase E2 deficiency [RCV002174718]	likely benign	11	112043550	112043550	Human	1	name
152107150	CV1577814	single nucleotide variant	NM_001931.5(DLAT):c.1290+17C>T	Pyruvate dehydrogenase E2 deficiency [RCV002096329]	likely benign	11	112045247	112045247	Human	1	name
152156101	CV1629663	single nucleotide variant	NM_001931.5(DLAT):c.1197+20T>C	Pyruvate dehydrogenase E2 deficiency [RCV002202676]	likely benign	11	112043553	112043553	Human	1	name
152111680	CV1634876	single nucleotide variant	NM_001931.5(DLAT):c.1198-16T>C	Pyruvate dehydrogenase E2 deficiency [RCV002096935]	likely benign	11	112045122	112045122	Human	1	name
152154287	CV1643707	single nucleotide variant	NM_001931.5(DLAT):c.1198-20C>T	Pyruvate dehydrogenase E2 deficiency [RCV002122196]	likely benign	11	112045118	112045118	Human	1	name
156090537	CV1919719	single nucleotide variant	NM_001931.5(DLAT):c.1291-10T>C	Pyruvate dehydrogenase E2 deficiency [RCV002591894]	likely benign	11	112045853	112045853	Human	1	name
405104506	CV2907992	duplication	NM_001931.5(DLAT):c.1515-13dup	Pyruvate dehydrogenase E2 deficiency [RCV003497754]	benign	11	112059885	112059886	Human	1	name
404994058	CV3005232	single nucleotide variant	NM_001931.5(DLAT):c.1399-20A>C	Pyruvate dehydrogenase E2 deficiency [RCV003604854]	likely benign	11	112051214	112051214	Human	1	name
405041899	CV3038589	single nucleotide variant	NM_001931.5(DLAT):c.1197+11T>A	Pyruvate dehydrogenase E2 deficiency [RCV003602739]	likely benign	11	112043544	112043544	Human	1	name
11604965	CV312373	single nucleotide variant	NM_001931.5(DLAT):c.1399-13C>T	Pyruvate dehydrogenase E2 deficiency [RCV002072297]\|not provided [RCV001581214]	likely benign\|uncertain significance	11	112051221	112051221	Human	1	name
12836802	CV372171	single nucleotide variant	NM_001931.5(DLAT):c.1678-12T>C	not specified [RCV000424059]	likely benign	11	112061026	112061026	Human		name
12836977	CV372172	single nucleotide variant	NM_001931.5(DLAT):c.1815-17T>G	not specified [RCV000424350]	likely benign	11	112062389	112062389	Human		name
12835703	CV372178	single nucleotide variant	NM_001931.5(DLAT):c.1815-15T>C	Pyruvate dehydrogenase E2 deficiency [RCV002519539]\|not specified [RCV000422147]	benign\|likely benign	11	112062391	112062391	Human	1	name
13536527	CV503446	single nucleotide variant	NM_001931.5(DLAT):c.1290+13C>T	Pyruvate dehydrogenase E2 deficiency [RCV003497861]\|not specified [RCV000609129]	likely benign	11	112045243	112045243	Human	1	name
13533995	CV512847	deletion	NM_001931.4(DLAT):c.381+22delT	Pyruvate dehydrogenase E2 deficiency [RCV000625085]\|not provided [RCV000676204]	benign\|likely benign	11	112026305	112026305	Human	1	name
13534107	CV512924	deletion	NM_001931.4(DLAT):c.381+22delT	Pyruvate dehydrogenase E2 deficiency [RCV000625374]	benign	11	112026321	112026321	Human		name
14725408	CV665577	single nucleotide variant	NM_001931.5(DLAT):c.976-323A>G	not provided [RCV000833426]	likely benign	11	112038921	112038921	Human		name
14714229	CV665787	single nucleotide variant	NM_001931.5(DLAT):c.787+272T>C	not provided [RCV000828967]	benign	11	112033802	112033802	Human		name
150339687	CV1167512	single nucleotide variant	NM_001931.5(DLAT):c.1198-266G>A	not provided [RCV001534462]	benign	11	112044872	112044872	Human		name
150423283	CV1184470	single nucleotide variant	NM_001931.5(DLAT):c.1398+164A>G	not provided [RCV001555112]	likely benign	11	112046134	112046134	Human		name
150404315	CV1194435	single nucleotide variant	NM_001931.5(DLAT):c.1514+219T>G	not provided [RCV001571046]	likely benign	11	112051568	112051568	Human		name
150461171	CV1275922	single nucleotide variant	NM_001931.5(DLAT):c.1290+170T>G	not provided [RCV001709860]	benign	11	112045400	112045400	Human		name
150505209	CV1286131	single nucleotide variant	NM_001931.5(DLAT):c.1398+305T>C	not provided [RCV001719554]	benign	11	112046275	112046275	Human		name
150436425	CV1286371	single nucleotide variant	NM_001931.5(DLAT):c.1290+315G>A	not provided [RCV001724447]	benign	11	112045545	112045545	Human		name
14745941	CV665556	single nucleotide variant	NM_001931.5(DLAT):c.1197+192G>A	not provided [RCV000843912]	benign	11	112043725	112043725	Human		name
14713740	CV665789	single nucleotide variant	NM_001931.5(DLAT):c.1291-245A>G	not provided [RCV000828806]	benign	11	112045618	112045618	Human		name
14725410	CV665795	single nucleotide variant	NM_001931.5(DLAT):c.1515-214G>A	not provided [RCV000833427]	benign	11	112059689	112059689	Human		name
404983750	CV3061211	single nucleotide variant	NM_001931.5(DLAT):c.9C>T (p.Arg3=)	Pyruvate dehydrogenase E2 deficiency [RCV003603662]	likely benign	11	112025481	112025481	Human	1	name
151758010	CV1340467	insertion	NM_001931.5(DLAT):c.381+5_381+6insC	Pyruvate dehydrogenase E2 deficiency [RCV001913653]	uncertain significance	11	112026304	112026305	Human	1	name
127325602	CV1141878	single nucleotide variant	NM_001931.5(DLAT):c.54C>A (p.Leu18=)	Pyruvate dehydrogenase E2 deficiency [RCV001485841]	likely benign	11	112025526	112025526	Human	1	name
150424357	CV1184468	deletion	NM_001931.5(DLAT):c.382-74_382-70del	not provided [RCV001556555]	likely benign	11	112028421	112028425	Human		name
150432951	CV1203476	deletion	NM_001931.5(DLAT):c.381+21_381+22del	not provided [RCV001581631]	likely benign	11	112026305	112026306	Human		name
150492198	CV1253888	deletion	NM_001931.5(DLAT):c.382-73_382-70del	not provided [RCV001674984]	benign	11	112028421	112028424	Human		name
150481618	CV1279792	deletion	NM_001931.5(DLAT):c.382-71_382-70del	not provided [RCV001714879]	benign	11	112028421	112028422	Human		name
150493942	CV1282351	deletion	NM_001931.5(DLAT):c.382-72_382-70del	not provided [RCV001717109]	benign	11	112028421	112028423	Human		name
150505724	CV1286263	deletion	NM_001931.5(DLAT):c.382-71_382-69del	not provided [RCV001719689]	benign	11	112028444	112028446	Human		name
155267146	CV1699452	duplication	NM_001931.5(DLAT):c.381+21_381+22dup	not provided [RCV002283247]	likely benign	11	112026304	112026305	Human		name
156397174	CV1985308	deletion	NM_001931.5(DLAT):c.788-20_788-18del	Pyruvate dehydrogenase E2 deficiency [RCV002635610]	likely benign	11	112037252	112037254	Human	1	name
15127295	CV783868	single nucleotide variant	NM_001931.5(DLAT):c.78G>A (p.Gln26=)	not provided [RCV000980523]	likely benign	11	112025550	112025550	Human		name
152088499	CV1541349	single nucleotide variant	NM_001931.5(DLAT):c.252C>T (p.Arg84=)	Pyruvate dehydrogenase E2 deficiency [RCV002171519]	likely benign	11	112025724	112025724	Human	1	name
152057444	CV1567299	insertion	NM_001931.5(DLAT):c.381+12_381+13insG	Pyruvate dehydrogenase E2 deficiency [RCV002146400]	likely benign	11	112026311	112026312	Human	1	name
152149309	CV1642885	single nucleotide variant	NM_001931.5(DLAT):c.267C>A (p.Pro89=)	DLAT-related disorder [RCV003926290]\|Pyruvate dehydrogenase E2 deficiency [RCV002179203]	likely benign	11	112025739	112025739	Human	1	name , trait , alternate_id
156383949	CV1979722	single nucleotide variant	NM_001931.5(DLAT):c.222G>A (p.Leu74=)	Pyruvate dehydrogenase E2 deficiency [RCV002634483]	likely benign	11	112025694	112025694	Human	1	name
11644078	CV273568	single nucleotide variant	NM_001931.5(DLAT):c.165C>G (p.Val55=)	Leigh syndrome [RCV005355614]\|Pyruvate dehydrogenase E2 deficiency [RCV003497843]\|not provided [RCV000726313]\|not specified [RCV000406039]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	112025637	112025637	Human	2	name
401905735	CV2809848	single nucleotide variant	NM_001931.5(DLAT):c.231T>C (p.Leu77=)	not provided [RCV003396077]	likely benign	11	112025703	112025703	Human		name
405109843	CV2872190	single nucleotide variant	NM_001931.5(DLAT):c.270G>C (p.Pro90=)	Pyruvate dehydrogenase E2 deficiency [RCV003499090]	benign	11	112025742	112025742	Human	1	name
11616847	CV325099	single nucleotide variant	NM_001931.5(DLAT):c.210G>C (p.Arg70=)	Pyruvate dehydrogenase complex deficiency [RCV000298677]	uncertain significance	11	112025682	112025682	Human	1	name
407474654	CV3430563	single nucleotide variant	NM_001931.5(DLAT):c.20G>T (p.Arg7Leu)	Inborn genetic diseases [RCV004616494]	uncertain significance	11	112025492	112025492	Human	1	name
597658414	CV3662548	single nucleotide variant	NM_001931.5(DLAT):c.17C>T (p.Ala6Val)	Inborn genetic diseases [RCV004976912]	uncertain significance	11	112025489	112025489	Human	1	name
597920022	CV3842545	single nucleotide variant	NM_001931.5(DLAT):c.132T>G (p.Arg44=)	Pyruvate dehydrogenase E2 deficiency [RCV005184030]	likely benign	11	112025604	112025604	Human	1	name
13536782	CV503137	single nucleotide variant	NM_001931.5(DLAT):c.240G>A (p.Ser80=)	Pyruvate dehydrogenase E2 deficiency [RCV002062962]\|not specified [RCV000609491]	likely benign	11	112025712	112025712	Human	1	name
13535032	CV503691	single nucleotide variant	NM_001931.5(DLAT):c.177C>T (p.Cys59=)	Pyruvate dehydrogenase E2 deficiency [RCV002065341]\|not provided [RCV001697903]	likely benign	11	112025649	112025649	Human	1	name
13612288	CV525969	single nucleotide variant	NM_001931.5(DLAT):c.144G>A (p.Val48=)	Pyruvate dehydrogenase E2 deficiency [RCV000642191]	likely benign	11	112025616	112025616	Human	1	name
126923284	CV1047009	single nucleotide variant	NM_001931.5(DLAT):c.510T>A (p.Pro170=)	Pyruvate dehydrogenase E2 deficiency [RCV001365666]	likely benign\|uncertain significance	11	112028795	112028795	Human	1	name
127270784	CV1099488	single nucleotide variant	NM_001931.5(DLAT):c.372A>C (p.Leu124=)	Pyruvate dehydrogenase E2 deficiency [RCV001430730]	likely benign	11	112026290	112026290	Human	1	name
150425197	CV1184469	deletion	NM_001931.5(DLAT):c.976-268_976-265del	not provided [RCV001557689]	likely benign	11	112038974	112038977	Human		name
151727562	CV1241965	single nucleotide variant	NM_001931.5(DLAT):c.975G>A (p.Pro325=)	Pyruvate dehydrogenase E2 deficiency [RCV001844333]	pathogenic\|likely pathogenic	11	112037460	112037460	Human	1	name
150507580	CV1256969	duplication	NM_001931.5(DLAT):c.1198-86_1198-85dup	not provided [RCV001678472]	benign	11	112045041	112045042	Human		name
150555909	CV1305412	single nucleotide variant	NM_001931.5(DLAT):c.83T>C (p.Val28Ala)	not provided [RCV001773345]	uncertain significance	11	112025555	112025555	Human		name
151802162	CV1364506	single nucleotide variant	NM_001931.5(DLAT):c.98G>A (p.Arg33Gln)	Pyruvate dehydrogenase E2 deficiency [RCV001991053]	uncertain significance	11	112025570	112025570	Human	1	name
8690834	CV140788	single nucleotide variant	NM_001931.5(DLAT):c.46G>A (p.Ala16Thr)	Pyruvate dehydrogenase E2 deficiency [RCV000904667]\|not specified [RCV000124680]	benign\|likely benign	11	112025518	112025518	Human	1	name
8690835	CV140789	single nucleotide variant	NM_001931.5(DLAT):c.55G>C (p.Glu19Gln)	DLAT-related disorder [RCV003975102]\|Pyruvate dehydrogenase E2 deficiency [RCV001001506]\|not provided [RCV000676202]\|not specified [RCV000124681]	benign\|likely benign\|uncertain significance	11	112025527	112025527	Human	1	name , trait , alternate_id
8690838	CV140792	single nucleotide variant	NM_001931.5(DLAT):c.570A>G (p.Gln190=)	Pyruvate dehydrogenase E2 deficiency [RCV000603990]\|not provided [RCV003390813]\|not specified [RCV000124684]	benign\|likely benign\|conflicting interpretations of pathogenicity	11	112028855	112028855	Human	1	name
8690840	CV140794	single nucleotide variant	NM_001931.5(DLAT):c.693C>T (p.Thr231=)	Pyruvate dehydrogenase E2 deficiency [RCV001083386]\|not provided [RCV000676207]\|not specified [RCV000124686]	benign\|likely benign	11	112033436	112033436	Human	1	name
152047809	CV1519815	single nucleotide variant	NM_001931.5(DLAT):c.306A>G (p.Thr102=)	Pyruvate dehydrogenase E2 deficiency [RCV002145285]	likely benign	11	112026224	112026224	Human	1	name
152122257	CV1521582	single nucleotide variant	NM_001931.5(DLAT):c.921G>A (p.Arg307=)	Pyruvate dehydrogenase E2 deficiency [RCV002135859]	likely benign	11	112037406	112037406	Human	1	name
152175691	CV1527078	single nucleotide variant	NM_001931.5(DLAT):c.417C>T (p.Ser139=)	Pyruvate dehydrogenase E2 deficiency [RCV002163827]	likely benign	11	112028550	112028550	Human	1	name
152170325	CV1592371	microsatellite	NM_001931.5(DLAT):c.1399-13_1399-11del	Pyruvate dehydrogenase E2 deficiency [RCV002161732]	benign	11	112051216	112051218	Human		name
152146739	CV1615434	single nucleotide variant	NM_001931.5(DLAT):c.864C>G (p.Thr288=)	Pyruvate dehydrogenase E2 deficiency [RCV002101590]	likely benign	11	112037349	112037349	Human	1	name
152079771	CV1663484	single nucleotide variant	NM_001931.5(DLAT):c.681T>C (p.Ser227=)	Pyruvate dehydrogenase E2 deficiency [RCV002149153]	likely benign	11	112033424	112033424	Human	1	name
156309691	CV1925026	deletion	NM_001931.5(DLAT):c.1677+21_1677+24del	Pyruvate dehydrogenase E2 deficiency [RCV002629687]	likely benign	11	112060084	112060087	Human	1	name
156022562	CV2141417	single nucleotide variant	NM_001931.5(DLAT):c.489C>T (p.Ile163=)	DLAT-related disorder [RCV003961330]\|Pyruvate dehydrogenase E2 deficiency [RCV002976225]	likely benign	11	112028622	112028622	Human	1	name , trait , alternate_id
11637897	CV268396	single nucleotide variant	NM_001931.5(DLAT):c.423G>A (p.Glu141=)	not provided [RCV000292830]	conflicting interpretations of pathogenicity\|uncertain significance	11	112028556	112028556	Human		name
401905737	CV2809849	single nucleotide variant	NM_001931.5(DLAT):c.477C>T (p.Ile159=)	not provided [RCV003396078]	likely benign	11	112028610	112028610	Human		name
405043525	CV3043223	single nucleotide variant	NM_001931.5(DLAT):c.891G>A (p.Glu297=)	Pyruvate dehydrogenase E2 deficiency [RCV003602848]	likely benign	11	112037376	112037376	Human	1	name
404983679	CV3064366	single nucleotide variant	NM_001931.5(DLAT):c.735G>A (p.Lys245=)	Pyruvate dehydrogenase E2 deficiency [RCV003603653]	likely benign	11	112033478	112033478	Human	1	name
405204025	CV3116891	single nucleotide variant	NM_001931.5(DLAT):c.957A>G (p.Pro319=)	Pyruvate dehydrogenase E2 deficiency [RCV003822375]	likely benign	11	112037442	112037442	Human	1	name
11608309	CV312362	single nucleotide variant	NM_001931.5(DLAT):c.318C>A (p.Gly106=)	Pyruvate dehydrogenase E2 deficiency [RCV001466689]\|not provided [RCV000901088]	likely benign\|uncertain significance	11	112026236	112026236	Human	1	name
11600917	CV312382	microsatellite	NM_001931.4(DLAT):c.1232_1235dupAGGA	Pyruvate dehydrogenase complex deficiency [RCV000278182]	benign	11	112063759	112063760	Human		name
404978946	CV3175927	single nucleotide variant	NM_001931.5(DLAT):c.810T>G (p.Gly270=)	Pyruvate dehydrogenase E2 deficiency [RCV003880027]	likely benign	11	112037295	112037295	Human	1	name
11619336	CV324382	single nucleotide variant	NM_001931.5(DLAT):c.828G>T (p.Leu276=)	DLAT-related disorder [RCV003930279]\|Pyruvate dehydrogenase E2 deficiency [RCV002056173]\|not provided [RCV000889512]\|not specified [RCV000434849]	likely benign\|uncertain significance	11	112037313	112037313	Human	1	name , trait , alternate_id
11647673	CV325101	single nucleotide variant	NM_001931.5(DLAT):c.402T>C (p.Thr134=)	Pyruvate dehydrogenase E2 deficiency [RCV002785478]	likely benign\|uncertain significance	11	112028535	112028535	Human	1	name
11619633	CV325109	single nucleotide variant	NM_001931.5(DLAT):c.606G>A (p.Ser202=)	Pyruvate dehydrogenase E2 deficiency [RCV002073056]\|not provided [RCV001653160]	likely benign\|uncertain significance	11	112028891	112028891	Human	1	name
596922341	CV3537054	single nucleotide variant	NM_001931.5(DLAT):c.79G>A (p.Glu27Lys)	not provided [RCV004786049]	uncertain significance	11	112025551	112025551	Human		name
597655120	CV3552198	single nucleotide variant	NM_001931.5(DLAT):c.975G>C (p.Pro325=)	Pyruvate dehydrogenase E2 deficiency [RCV004821056]	uncertain significance	11	112037460	112037460	Human	1	name
12833343	CV371992	single nucleotide variant	NM_001931.5(DLAT):c.870C>T (p.Leu290=)	Pyruvate dehydrogenase E2 deficiency [RCV003603055]\|not specified [RCV000418313]	likely benign	11	112037355	112037355	Human	1	name
12839594	CV372166	single nucleotide variant	NM_001931.5(DLAT):c.675C>T (p.Ala225=)	Pyruvate dehydrogenase E2 deficiency [RCV000898742]\|not provided [RCV001704320]	likely benign	11	112033418	112033418	Human	1	name
12841429	CV372167	single nucleotide variant	NM_001931.5(DLAT):c.754C>T (p.Leu252=)	Pyruvate dehydrogenase E2 deficiency [RCV001496689]\|not provided [RCV003392246]\|not specified [RCV000432572]	likely benign	11	112033497	112033497	Human	1	name
597947047	CV3755698	single nucleotide variant	NM_001931.5(DLAT):c.675C>A (p.Ala225=)	Pyruvate dehydrogenase E2 deficiency [RCV005078708]	likely benign	11	112033418	112033418	Human	1	name
597969257	CV3791291	single nucleotide variant	NM_001931.5(DLAT):c.588C>A (p.Thr196=)	Pyruvate dehydrogenase E2 deficiency [RCV005141323]	likely benign	11	112028873	112028873	Human	1	name
597934161	CV3810869	single nucleotide variant	NM_001931.5(DLAT):c.342A>G (p.Lys114=)	Pyruvate dehydrogenase E2 deficiency [RCV005157578]	likely benign	11	112026260	112026260	Human	1	name
598173597	CV3964077	single nucleotide variant	NM_001931.5(DLAT):c.28C>G (p.Gln10Glu)	Inborn genetic diseases [RCV005331563]	uncertain significance	11	112025500	112025500	Human	1	name
13536710	CV503696	single nucleotide variant	NM_001931.5(DLAT):c.981C>T (p.Ala327=)	DLAT-related disorder [RCV003928001]\|Pyruvate dehydrogenase E2 deficiency [RCV002064194]\|not provided [RCV001719008]	likely benign	11	112039249	112039249	Human	1	name , trait , alternate_id
13526193	CV504036	single nucleotide variant	NM_001931.5(DLAT):c.687C>T (p.Thr229=)	Pyruvate dehydrogenase E2 deficiency [RCV003497869]\|not provided [RCV004705718]\|not specified [RCV000603798]	likely benign	11	112033430	112033430	Human	1	name
15173262	CV724191	single nucleotide variant	NM_001931.5(DLAT):c.927C>T (p.Thr309=)	not provided [RCV000884000]	likely benign	11	112037412	112037412	Human		name
15191350	CV737725	single nucleotide variant	NM_001931.5(DLAT):c.492T>C (p.Cys164=)	not provided [RCV000910220]	likely benign	11	112028625	112028625	Human		name
15147884	CV752424	single nucleotide variant	NM_001931.5(DLAT):c.969A>C (p.Pro323=)	Pyruvate dehydrogenase E2 deficiency [RCV000922994]\|not provided [RCV001720268]	likely benign	11	112037454	112037454	Human	1	name
15194800	CV768197	single nucleotide variant	NM_001931.5(DLAT):c.654C>T (p.His218=)	Pyruvate dehydrogenase E2 deficiency [RCV002544468]\|not provided [RCV003389847]	likely benign	11	112028939	112028939	Human	1	name
15174287	CV768198	single nucleotide variant	NM_001931.5(DLAT):c.759A>G (p.Ala253=)	Pyruvate dehydrogenase E2 deficiency [RCV001434589]	likely benign	11	112033502	112033502	Human	1	name
26885871	CV837945	single nucleotide variant	NM_001931.5(DLAT):c.32A>C (p.Asn11Thr)	Pyruvate dehydrogenase E2 deficiency [RCV001043817]	uncertain significance	11	112025504	112025504	Human	1	name
126746368	CV1017375	single nucleotide variant	NM_001931.5(DLAT):c.202A>T (p.Thr68Ser)	Pyruvate dehydrogenase E2 deficiency [RCV001330869]	uncertain significance	11	112025674	112025674	Human		name
127312798	CV1141879	single nucleotide variant	NM_001931.5(DLAT):c.1071T>C (p.Val357=)	Pyruvate dehydrogenase E2 deficiency [RCV001502016]	likely benign	11	112039339	112039339	Human	1	name
8659417	CV134344	single nucleotide variant	NM_001931.5(DLAT):c.128C>T (p.Ala43Val)	Pyruvate dehydrogenase E2 deficiency [RCV001510014]\|not provided [RCV000676203]\|not specified [RCV000116877]	benign\|likely benign	11	112025600	112025600	Human	1	name
151868212	CV1366846	single nucleotide variant	NM_001931.5(DLAT):c.109C>G (p.Arg37Gly)	Pyruvate dehydrogenase E2 deficiency [RCV001939439]\|not provided [RCV003228038]	likely benign\|uncertain significance	11	112025581	112025581	Human	1	name
151855632	CV1387588	single nucleotide variant	NM_001931.5(DLAT):c.1290G>A (p.Arg430=)	Pyruvate dehydrogenase E2 deficiency [RCV001958552]	uncertain significance	11	112045230	112045230	Human	1	name
151849398	CV1389544	single nucleotide variant	NM_001931.5(DLAT):c.160G>T (p.Gly54Trp)	Pyruvate dehydrogenase E2 deficiency [RCV001937145]	uncertain significance	11	112025632	112025632	Human	1	name
151770039	CV1454470	single nucleotide variant	NM_001931.5(DLAT):c.253T>C (p.Tyr85His)	Pyruvate dehydrogenase E2 deficiency [RCV001950068]	uncertain significance	11	112025725	112025725	Human	1	name
152109396	CV1520257	single nucleotide variant	NM_001931.5(DLAT):c.1350C>T (p.Ile450=)	Pyruvate dehydrogenase E2 deficiency [RCV002134288]	likely benign	11	112045922	112045922	Human	1	name
152029372	CV1568253	single nucleotide variant	NM_001931.5(DLAT):c.1542G>C (p.Ala514=)	Pyruvate dehydrogenase E2 deficiency [RCV002105563]	likely benign	11	112059930	112059930	Human	1	name
153305546	CV1688618	single nucleotide variant	NM_001931.5(DLAT):c.208C>T (p.Arg70Trp)	Inborn genetic diseases [RCV005333232]\|not specified [RCV002266354]	uncertain significance	11	112025680	112025680	Human	1	name
155950924	CV1880111	single nucleotide variant	NM_001931.5(DLAT):c.1851T>C (p.Ser617=)	Pyruvate dehydrogenase E2 deficiency [RCV003074147]	likely benign	11	112062442	112062442	Human	1	name
155986733	CV1884062	single nucleotide variant	NM_001931.5(DLAT):c.188C>T (p.Pro63Leu)	Pyruvate dehydrogenase E2 deficiency [RCV003075920]	uncertain significance	11	112025660	112025660	Human	1	name
156410897	CV1966025	single nucleotide variant	NM_001931.5(DLAT):c.1368A>G (p.Glu456=)	Pyruvate dehydrogenase E2 deficiency [RCV002587308]	likely benign	11	112045940	112045940	Human	1	name
156060942	CV2034534	single nucleotide variant	NM_001931.5(DLAT):c.253T>G (p.Tyr85Asp)	Pyruvate dehydrogenase E2 deficiency [RCV002736836]	uncertain significance	11	112025725	112025725	Human	1	name
156142564	CV2106138	single nucleotide variant	NM_001931.5(DLAT):c.1287T>G (p.Arg429=)	Pyruvate dehydrogenase E2 deficiency [RCV002928607]	likely benign	11	112045227	112045227	Human	1	name
155981395	CV2140471	single nucleotide variant	NM_001931.5(DLAT):c.1146T>A (p.Gly382=)	Pyruvate dehydrogenase E2 deficiency [RCV002996118]	likely benign	11	112043482	112043482	Human	1	name
156194500	CV2146583	single nucleotide variant	NM_001931.5(DLAT):c.169G>T (p.Ala57Ser)	Pyruvate dehydrogenase E2 deficiency [RCV003006111]	uncertain significance	11	112025641	112025641	Human	1	name
155904844	CV2276185	single nucleotide variant	NM_001931.5(DLAT):c.131G>T (p.Arg44Leu)	Inborn genetic diseases [RCV002837054]	uncertain significance	11	112025603	112025603	Human	1	name
156163022	CV2323577	single nucleotide variant	NM_001931.5(DLAT):c.280G>C (p.Val94Leu)	Inborn genetic diseases [RCV002929393]\|not provided [RCV005422259]	uncertain significance	11	112026198	112026198	Human	1	name
243057481	CV2412084	single nucleotide variant	NM_001931.5(DLAT):c.265C>A (p.Pro89Thr)	Pyruvate dehydrogenase E2 deficiency [RCV003146098]	uncertain significance	11	112025737	112025737	Human	1	name
401891654	CV2779277	single nucleotide variant	NM_001931.5(DLAT):c.268C>G (p.Pro90Ala)	Inborn genetic diseases [RCV003355018]	uncertain significance	11	112025740	112025740	Human	1	name
405108055	CV2922287	deletion	NM_001931.5(DLAT):c.802del (p.Glu268fs)	Pyruvate dehydrogenase E2 deficiency [RCV003498718]	pathogenic	11	112037286	112037286	Human	1	name
405047182	CV2946948	duplication	NM_001931.5(DLAT):c.723dup (p.Val242fs)	Pyruvate dehydrogenase E2 deficiency [RCV003603203]	pathogenic	11	112033458	112033459	Human	1	name
404987015	CV2970774	single nucleotide variant	NM_001931.5(DLAT):c.1695C>A (p.Ile565=)	Pyruvate dehydrogenase E2 deficiency [RCV003604062]	likely benign	11	112061055	112061055	Human	1	name
404985588	CV3078944	single nucleotide variant	NM_001931.5(DLAT):c.146C>T (p.Thr49Ile)	Pyruvate dehydrogenase E2 deficiency [RCV003603919]	uncertain significance	11	112025618	112025618	Human	1	name
11608098	CV312375	single nucleotide variant	NM_001931.5(DLAT):c.1692G>A (p.Thr564=)	Pyruvate dehydrogenase E2 deficiency [RCV002520672]\|not provided [RCV001705451]	likely benign\|uncertain significance	11	112061052	112061052	Human	1	name
405197865	CV3146795	single nucleotide variant	NM_001931.5(DLAT):c.1353T>C (p.Asp451=)	Pyruvate dehydrogenase E2 deficiency [RCV003844150]	likely benign	11	112045925	112045925	Human	1	name
405706378	CV3244105	single nucleotide variant	NM_001931.5(DLAT):c.107C>G (p.Ser36Trp)	Inborn genetic diseases [RCV004375970]	uncertain significance	11	112025579	112025579	Human	1	name
405855328	CV3394090	deletion	NM_001931.5(DLAT):c.476del (p.Ile159fs)	Pyruvate dehydrogenase E2 deficiency [RCV004547317]	likely pathogenic	11	112028609	112028609	Human	1	name
407474663	CV3430566	single nucleotide variant	NM_001931.5(DLAT):c.235G>T (p.Gly79Trp)	Inborn genetic diseases [RCV004616497]	uncertain significance	11	112025707	112025707	Human	1	name
12743100	CV361584	single nucleotide variant	NM_001931.5(DLAT):c.1035A>G (p.Pro345=)	Pyruvate dehydrogenase E2 deficiency [RCV001082186]\|not provided [RCV000416012]	likely benign	11	112039303	112039303	Human	1	name
597658391	CV3662543	single nucleotide variant	NM_001931.5(DLAT):c.158G>T (p.Gly53Val)	Inborn genetic diseases [RCV004976907]\|Pyruvate dehydrogenase E2 deficiency [RCV005110189]	likely benign\|uncertain significance	11	112025630	112025630	Human	2	name
597658409	CV3662547	single nucleotide variant	NM_001931.5(DLAT):c.265C>G (p.Pro89Ala)	Inborn genetic diseases [RCV004976911]	uncertain significance	11	112025737	112025737	Human	1	name
597940138	CV3836615	single nucleotide variant	NM_001931.5(DLAT):c.205C>A (p.Pro69Thr)	Pyruvate dehydrogenase E2 deficiency [RCV005187636]	uncertain significance	11	112025677	112025677	Human	1	name
13534968	CV503699	single nucleotide variant	NM_001931.5(DLAT):c.1542G>A (p.Ala514=)	Pyruvate dehydrogenase E2 deficiency [RCV001506699]\|not provided [RCV004705689]\|not specified [RCV000607494]	likely benign	11	112059930	112059930	Human	1	name
14693008	CV620385	duplication	NM_001931.5(DLAT):c.396dup (p.Ala133fs)	Pyruvate dehydrogenase E2 deficiency [RCV000778303]	conflicting interpretations of pathogenicity\|uncertain significance	11	112028526	112028527	Human		name
14708580	CV656029	single nucleotide variant	NM_001931.5(DLAT):c.1374G>A (p.Leu458=)	Pyruvate dehydrogenase E2 deficiency [RCV003497883]\|not provided [RCV000827192]	likely benign	11	112045946	112045946	Human	1	name
15190393	CV737726	single nucleotide variant	NM_001931.5(DLAT):c.1743C>T (p.Asn581=)	Pyruvate dehydrogenase E2 deficiency [RCV001455106]	likely benign	11	112061103	112061103	Human	1	name
15133414	CV752425	single nucleotide variant	NM_001931.5(DLAT):c.1476C>T (p.Pro492=)	Pyruvate dehydrogenase E2 deficiency [RCV000920510]	likely benign	11	112051311	112051311	Human	1	name
21074114	CV796515	single nucleotide variant	NM_001931.5(DLAT):c.167G>C (p.Arg56Pro)	Inborn genetic diseases [RCV002549880]\|Pyruvate dehydrogenase E2 deficiency [RCV003117669]\|not provided [RCV000994723]	uncertain significance	11	112025639	112025639	Human	2	name
126746373	CV1017376	single nucleotide variant	NM_001931.5(DLAT):c.956C>T (p.Pro319Leu)	Pyruvate dehydrogenase E2 deficiency [RCV001330870]	uncertain significance	11	112037441	112037441	Human	1	name
126772459	CV1030038	single nucleotide variant	NM_001931.5(DLAT):c.343G>A (p.Glu115Lys)	Pyruvate dehydrogenase E2 deficiency [RCV001345626]	uncertain significance	11	112026261	112026261	Human	1	name
150549652	CV1299577	single nucleotide variant	NM_001931.5(DLAT):c.458G>A (p.Gly153Asp)	not provided [RCV001752503]	uncertain significance	11	112028591	112028591	Human		name
8659419	CV134346	single nucleotide variant	NM_001931.5(DLAT):c.953T>C (p.Val318Ala)	Pyruvate dehydrogenase E2 deficiency [RCV001516164]\|not provided [RCV000676208]\|not specified [RCV000116879]	benign\|likely benign	11	112037438	112037438	Human	1	name
151779392	CV1352290	single nucleotide variant	NM_001931.5(DLAT):c.895G>T (p.Asp299Tyr)	Pyruvate dehydrogenase E2 deficiency [RCV002009594]	uncertain significance	11	112037380	112037380	Human	1	name
151822239	CV1355192	single nucleotide variant	NM_001931.5(DLAT):c.577C>G (p.Pro193Ala)	Pyruvate dehydrogenase E2 deficiency [RCV001934257]	uncertain significance	11	112028862	112028862	Human	1	name
151731995	CV1355547	single nucleotide variant	NM_001931.5(DLAT):c.887A>G (p.Lys296Arg)	Pyruvate dehydrogenase E2 deficiency [RCV001984303]	uncertain significance	11	112037372	112037372	Human	1	name
8690836	CV140790	single nucleotide variant	NM_001931.5(DLAT):c.928G>A (p.Glu310Lys)	Pyruvate dehydrogenase E2 deficiency [RCV000962443]\|not provided [RCV001530019]\|not specified [RCV000124682]	benign\|likely benign	11	112037413	112037413	Human	1	name
8690839	CV140793	single nucleotide variant	NM_001931.5(DLAT):c.626A>G (p.Gln209Arg)	Pyruvate dehydrogenase E2 deficiency [RCV001001507]\|not provided [RCV000676206]\|not specified [RCV000124685]	benign\|likely benign	11	112028911	112028911	Human	1	name
151871623	CV1429751	single nucleotide variant	NM_001931.5(DLAT):c.982G>A (p.Ala328Thr)	Pyruvate dehydrogenase E2 deficiency [RCV002019025]\|not provided [RCV005421073]	uncertain significance	11	112039250	112039250	Human	1	name
151789638	CV1451050	single nucleotide variant	NM_001931.5(DLAT):c.436G>A (p.Ala146Thr)	Pyruvate dehydrogenase E2 deficiency [RCV001931286]	uncertain significance	11	112028569	112028569	Human	1	name
151890912	CV1473159	single nucleotide variant	NM_001931.5(DLAT):c.898A>G (p.Ile300Val)	Pyruvate dehydrogenase E2 deficiency [RCV001888537]	uncertain significance	11	112037383	112037383	Human	1	name
151713614	CV1476617	single nucleotide variant	NM_001931.5(DLAT):c.325G>A (p.Ala109Thr)	Pyruvate dehydrogenase E2 deficiency [RCV001908510]	uncertain significance	11	112026243	112026243	Human	1	name
153302438	CV1688226	single nucleotide variant	NM_001931.5(DLAT):c.998C>G (p.Pro333Arg)	not provided [RCV002265452]	uncertain significance	11	112039266	112039266	Human		name
155712951	CV1760259	single nucleotide variant	NM_001931.5(DLAT):c.977T>C (p.Val326Ala)	not provided [RCV002300765]	uncertain significance	11	112039245	112039245	Human		name
156276512	CV1880663	single nucleotide variant	NM_001931.5(DLAT):c.563C>A (p.Thr188Asn)	Pyruvate dehydrogenase E2 deficiency [RCV003060911]	uncertain significance	11	112028848	112028848	Human	1	name
156054720	CV1882058	single nucleotide variant	NM_001931.5(DLAT):c.605C>T (p.Ser202Leu)	Inborn genetic diseases [RCV003250736]\|Pyruvate dehydrogenase E2 deficiency [RCV003079007]	uncertain significance	11	112028890	112028890	Human	2	name
156285971	CV1884819	single nucleotide variant	NM_001931.5(DLAT):c.478G>A (p.Gly160Arg)	Pyruvate dehydrogenase E2 deficiency [RCV003061245]\|not provided [RCV004725508]	uncertain significance	11	112028611	112028611	Human	1	name
156359480	CV1910677	single nucleotide variant	NM_001931.5(DLAT):c.856C>G (p.Leu286Val)	Pyruvate dehydrogenase E2 deficiency [RCV002632573]	uncertain significance	11	112037341	112037341	Human	1	name
156393694	CV1962531	single nucleotide variant	NM_001931.5(DLAT):c.482C>T (p.Ala161Val)	Pyruvate dehydrogenase E2 deficiency [RCV002584133]	uncertain significance	11	112028615	112028615	Human	1	name
10401601	CV205266	single nucleotide variant	NM_001931.5(DLAT):c.470T>G (p.Val157Gly)	Inborn genetic diseases [RCV000190817]\|Pyruvate dehydrogenase E2 deficiency [RCV000767878]\|not specified [RCV003317143]	pathogenic\|likely pathogenic\|uncertain significance	11	112028603	112028603	Human	2	name
156001062	CV2092223	single nucleotide variant	NM_001931.5(DLAT):c.934A>G (p.Thr312Ala)	Pyruvate dehydrogenase E2 deficiency [RCV002908633]	uncertain significance	11	112037419	112037419	Human	1	name
10411147	CV211481	single nucleotide variant	NM_001931.5(DLAT):c.359A>G (p.Asn120Ser)	not specified [RCV000199657]	likely benign	11	112026277	112026277	Human		name
10409711	CV211482	single nucleotide variant	NM_001931.5(DLAT):c.487A>G (p.Ile163Val)	not specified [RCV000196681]	likely benign	11	112028620	112028620	Human		name
10410668	CV211483	single nucleotide variant	NM_001931.5(DLAT):c.572C>T (p.Ala191Val)	Inborn genetic diseases [RCV004020393]\|Pyruvate dehydrogenase E2 deficiency [RCV000660430]\|not provided [RCV003313055]	likely benign\|uncertain significance	11	112028857	112028857	Human	2	name
10411557	CV211484	single nucleotide variant	NM_001931.5(DLAT):c.583C>T (p.Pro195Ser)	Pyruvate dehydrogenase E2 deficiency [RCV002517207]\|not provided [RCV001531762]\|not specified [RCV000200505]	pathogenic\|likely benign\|uncertain significance	11	112028868	112028868	Human	1	name
10409506	CV211485	single nucleotide variant	NM_001931.5(DLAT):c.628G>A (p.Ala210Thr)	Pyruvate dehydrogenase E2 deficiency [RCV001086390]\|not provided [RCV000196247]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	112028913	112028913	Human	1	name
156303740	CV2129638	single nucleotide variant	NM_001931.5(DLAT):c.635G>A (p.Gly212Asp)	Pyruvate dehydrogenase E2 deficiency [RCV002962262]	uncertain significance	11	112028920	112028920	Human	1	name
156057090	CV2308979	single nucleotide variant	NM_001931.5(DLAT):c.412G>A (p.Glu138Lys)	Inborn genetic diseases [RCV002911549]	uncertain significance	11	112028545	112028545	Human	1	name
243057482	CV2412085	single nucleotide variant	NM_001931.5(DLAT):c.900A>G (p.Ile300Met)	Pyruvate dehydrogenase E2 deficiency [RCV003146099]	uncertain significance	11	112037385	112037385	Human	1	name
243050582	CV2417366	single nucleotide variant	NM_001931.5(DLAT):c.524C>G (p.Ala175Gly)	not provided [RCV003152238]	uncertain significance	11	112028809	112028809	Human		name
243050652	CV2419684	single nucleotide variant	NM_001931.5(DLAT):c.428G>T (p.Cys143Phe)	not provided [RCV003156616]	uncertain significance	11	112028561	112028561	Human		name
329386059	CV2458780	single nucleotide variant	NM_001931.5(DLAT):c.979G>T (p.Ala327Ser)	Inborn genetic diseases [RCV003214643]	uncertain significance	11	112039247	112039247	Human	1	name
401719081	CV2679411	single nucleotide variant	NM_001931.5(DLAT):c.658C>G (p.Gln220Glu)	Inborn genetic diseases [RCV003243589]	uncertain significance	11	112028943	112028943	Human	1	name
401775975	CV2706836	single nucleotide variant	NM_001931.5(DLAT):c.481G>A (p.Ala161Thr)	Inborn genetic diseases [RCV003263075]	uncertain significance	11	112028614	112028614	Human	1	name
401913580	CV2830466	single nucleotide variant	NM_001931.5(DLAT):c.757G>T (p.Ala253Ser)	not provided [RCV003441681]	uncertain significance	11	112033500	112033500	Human		name
405112304	CV2887765	single nucleotide variant	NM_001931.5(DLAT):c.486C>G (p.Ile162Met)	Pyruvate dehydrogenase E2 deficiency [RCV003499513]	likely benign	11	112028619	112028619	Human	1	name
405103745	CV2899914	single nucleotide variant	NM_001931.5(DLAT):c.629C>T (p.Ala210Val)	Pyruvate dehydrogenase E2 deficiency [RCV003497470]	uncertain significance	11	112028914	112028914	Human	1	name
404983832	CV3058227	single nucleotide variant	NM_001931.5(DLAT):c.592G>A (p.Ala198Thr)	Pyruvate dehydrogenase E2 deficiency [RCV003603673]	uncertain significance	11	112028877	112028877	Human	1	name
404986478	CV3071692	single nucleotide variant	NM_001931.5(DLAT):c.568C>T (p.Gln190Ter)	Pyruvate dehydrogenase E2 deficiency [RCV003603997]	pathogenic	11	112028853	112028853	Human	1	name
11611505	CV318252	single nucleotide variant	NM_001931.5(DLAT):c.991C>G (p.Pro331Ala)	Leigh syndrome [RCV005355630]\|Pyruvate dehydrogenase E2 deficiency [RCV001444432]\|not provided [RCV004705203]	likely benign\|uncertain significance	11	112039259	112039259	Human	2	name
405706425	CV3244111	single nucleotide variant	NM_001931.5(DLAT):c.926C>T (p.Thr309Ile)	Inborn genetic diseases [RCV004375976]	uncertain significance	11	112037411	112037411	Human	1	name
11623882	CV325111	single nucleotide variant	NM_001931.5(DLAT):c.946C>T (p.Pro316Ser)	Pyruvate dehydrogenase E2 deficiency [RCV000609986]\|not provided [RCV003327393]	likely benign\|uncertain significance	11	112037431	112037431	Human	1	name
11620608	CV325112	single nucleotide variant	NM_001931.5(DLAT):c.974C>T (p.Pro325Leu)	Inborn genetic diseases [RCV004041604]\|Pyruvate dehydrogenase E2 deficiency [RCV001903189]	uncertain significance	11	112037459	112037459	Human	2	name
407474651	CV3430562	single nucleotide variant	NM_001931.5(DLAT):c.523G>C (p.Ala175Pro)	Inborn genetic diseases [RCV004616493]	uncertain significance	11	112028808	112028808	Human	1	name
597650251	CV3551875	single nucleotide variant	NM_001931.5(DLAT):c.878T>C (p.Ile293Thr)	not provided [RCV004820588]	uncertain significance	11	112037363	112037363	Human		name
597658401	CV3662545	single nucleotide variant	NM_001931.5(DLAT):c.539C>T (p.Thr180Ile)	Inborn genetic diseases [RCV004976909]	uncertain significance	11	112028824	112028824	Human	1	name
597674076	CV3723573	deletion	NM_001931.5(DLAT):c.1030del (p.Cys344fs)	Pyruvate dehydrogenase E2 deficiency [RCV005044311]	likely pathogenic	11	112039298	112039298	Human	1	name
597832483	CV3831250	single nucleotide variant	NM_001931.5(DLAT):c.572C>G (p.Ala191Gly)	Pyruvate dehydrogenase E2 deficiency [RCV005170452]	uncertain significance	11	112028857	112028857	Human	1	name
598216711	CV3895236	single nucleotide variant	NM_001931.5(DLAT):c.566C>A (p.Pro189Gln)	Leigh syndrome [RCV005360138]	uncertain significance	11	112028851	112028851	Human	1	name
598173583	CV3964074	single nucleotide variant	NM_001931.5(DLAT):c.400A>G (p.Thr134Ala)	Inborn genetic diseases [RCV005331560]	uncertain significance	11	112028533	112028533	Human	1	name
598173601	CV3964078	single nucleotide variant	NM_001931.5(DLAT):c.976G>A (p.Val326Met)	Inborn genetic diseases [RCV005331564]	uncertain significance	11	112039244	112039244	Human	1	name
598173605	CV3964079	single nucleotide variant	NM_001931.5(DLAT):c.548C>T (p.Ser183Phe)	Inborn genetic diseases [RCV005331565]	uncertain significance	11	112028833	112028833	Human	1	name
12893993	CV408269	single nucleotide variant	NM_001931.5(DLAT):c.410T>G (p.Phe137Cys)	not provided [RCV000481071]	likely pathogenic\|uncertain significance	11	112028543	112028543	Human		name
13471830	CV444723	single nucleotide variant	NM_001931.5(DLAT):c.367G>T (p.Asp123Tyr)	Pyruvate dehydrogenase E2 deficiency [RCV003333076]\|not provided [RCV000518970]	uncertain significance	11	112026285	112026285	Human	1	name
13612304	CV525972	single nucleotide variant	NM_001931.5(DLAT):c.355A>G (p.Ile119Val)	Pyruvate dehydrogenase E2 deficiency [RCV000642190]	uncertain significance	11	112026273	112026273	Human	1	name
13788219	CV549975	insertion	NM_001931.5(DLAT):c.1678-32_1678-31insAA	not provided [RCV000676211]	benign	11	112061006	112061007	Human		name
13836527	CV587802	single nucleotide variant	NM_001931.5(DLAT):c.382G>A (p.Val128Ile)	Inborn genetic diseases [RCV005328382]\|Pyruvate dehydrogenase E2 deficiency [RCV001327355]\|not provided [RCV000732667]	likely benign\|uncertain significance	11	112028515	112028515	Human	2	name
14693009	CV620386	single nucleotide variant	NM_001931.5(DLAT):c.412G>T (p.Glu138Ter)	Pyruvate dehydrogenase E2 deficiency [RCV002633576]	pathogenic\|uncertain significance	11	112028545	112028545	Human	1	name
26922260	CV837946	single nucleotide variant	NM_001931.5(DLAT):c.983C>T (p.Ala328Val)	Pyruvate dehydrogenase E2 deficiency [RCV001061768]	uncertain significance	11	112039251	112039251	Human	1	name
126918835	CV1047010	single nucleotide variant	NM_001931.5(DLAT):c.1040C>G (p.Thr347Ser)	Inborn genetic diseases [RCV005330755]\|Pyruvate dehydrogenase E2 deficiency [RCV001361958]	uncertain significance	11	112039308	112039308	Human	2	name
126913614	CV1047011	single nucleotide variant	NM_001931.5(DLAT):c.1514A>G (p.Gln505Arg)	Pyruvate dehydrogenase E2 deficiency [RCV001370172]	uncertain significance	11	112051349	112051349	Human	1	name
150439113	CV1201507	single nucleotide variant	NM_001931.5(DLAT):c.1598G>A (p.Gly533Glu)	not provided [RCV001583319]	likely pathogenic	11	112059986	112059986	Human		name
150556108	CV1295495	single nucleotide variant	NM_001931.5(DLAT):c.1621G>A (p.Val541Ile)	not provided [RCV001773930]	uncertain significance	11	112060009	112060009	Human		name
150528245	CV1301766	single nucleotide variant	NM_001931.5(DLAT):c.1382G>A (p.Arg461Gln)	not provided [RCV001755138]	uncertain significance	11	112045954	112045954	Human		name
150554492	CV1304194	single nucleotide variant	NM_001931.5(DLAT):c.1144G>A (p.Gly382Ser)	not provided [RCV001771164]	uncertain significance	11	112043480	112043480	Human		name
8659418	CV134345	single nucleotide variant	NM_001931.5(DLAT):c.1351G>A (p.Asp451Asn)	Pyruvate dehydrogenase E2 deficiency [RCV001510015]\|not provided [RCV000676209]\|not specified [RCV000116878]	benign\|likely benign	11	112045923	112045923	Human	1	name
151802525	CV1352061	single nucleotide variant	NM_001931.5(DLAT):c.1669G>A (p.Glu557Lys)	Pyruvate dehydrogenase E2 deficiency [RCV002048112]	uncertain significance	11	112060057	112060057	Human	1	name
151841112	CV1361223	single nucleotide variant	NM_001931.5(DLAT):c.1645A>G (p.Arg549Gly)	Inborn genetic diseases [RCV004975775]\|Pyruvate dehydrogenase E2 deficiency [RCV001881363]	uncertain significance	11	112060033	112060033	Human	2	name
151826841	CV1396252	single nucleotide variant	NM_001931.5(DLAT):c.1567A>G (p.Thr523Ala)	Pyruvate dehydrogenase E2 deficiency [RCV001934664]	uncertain significance	11	112059955	112059955	Human	1	name
151775690	CV1413652	single nucleotide variant	NM_001931.5(DLAT):c.1535G>A (p.Ser512Asn)	Pyruvate dehydrogenase E2 deficiency [RCV001971606]	uncertain significance	11	112059923	112059923	Human	1	name
151745401	CV1428149	single nucleotide variant	NM_001931.5(DLAT):c.1374G>T (p.Leu458Phe)	Inborn genetic diseases [RCV004612005]\|Pyruvate dehydrogenase E2 deficiency [RCV001926901]	uncertain significance	11	112045946	112045946	Human	2	name
151769197	CV1450923	single nucleotide variant	NM_001931.5(DLAT):c.1703T>C (p.Leu568Ser)	Pyruvate dehydrogenase E2 deficiency [RCV001929350]	uncertain significance	11	112061063	112061063	Human	1	name
151791081	CV1509248	single nucleotide variant	NM_001931.5(DLAT):c.1447G>C (p.Ala483Pro)	Pyruvate dehydrogenase E2 deficiency [RCV001876520]	uncertain significance	11	112051282	112051282	Human	1	name
151800009	CV1509423	single nucleotide variant	NM_001931.5(DLAT):c.1664C>A (p.Pro555Gln)	Pyruvate dehydrogenase E2 deficiency [RCV001867039]	uncertain significance	11	112060052	112060052	Human	1	name
151865157	CV1511632	single nucleotide variant	NM_001931.5(DLAT):c.1285C>A (p.Arg429Ser)	Pyruvate dehydrogenase E2 deficiency [RCV001997640]	uncertain significance	11	112045225	112045225	Human	1	name
152112765	CV1604371	indel	NM_001931.5(DLAT):c.975+15_975+16delinsGT	Pyruvate dehydrogenase E2 deficiency [RCV002097076]	likely benign	11	112037475	112037476	Human		name
152980480	CV1678634	single nucleotide variant	NM_001931.5(DLAT):c.1474C>G (p.Pro492Ala)	not specified [RCV002247142]	uncertain significance	11	112051309	112051309	Human		name
153305547	CV1688619	single nucleotide variant	NM_001931.5(DLAT):c.1345T>C (p.Ser449Pro)	Inborn genetic diseases [RCV003096027]\|not specified [RCV002266355]	uncertain significance	11	112045917	112045917	Human	1	name
153305549	CV1688620	single nucleotide variant	NM_001931.5(DLAT):c.1541C>T (p.Ala514Val)	not specified [RCV002266356]	uncertain significance	11	112059929	112059929	Human		name
8556640	CV17149	single nucleotide variant	NM_001931.5(DLAT):c.1728C>A (p.Phe576Leu)	Pyruvate dehydrogenase E2 deficiency [RCV000002191]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	11	112061088	112061088	Human	1	name
9686904	CV171496	single nucleotide variant	NM_001931.5(DLAT):c.1339T>C (p.Tyr447His)	Prostate cancer [RCV000149123]	uncertain significance	11	112045911	112045911	Human	2	name
155671469	CV1775947	single nucleotide variant	NM_001931.5(DLAT):c.1823T>A (p.Val608Glu)	Pyruvate dehydrogenase E2 deficiency [RCV002297420]	uncertain significance	11	112062414	112062414	Human	1	name
156023943	CV1922227	single nucleotide variant	NM_001931.5(DLAT):c.1253G>A (p.Gly418Asp)	Pyruvate dehydrogenase E2 deficiency [RCV002636842]	uncertain significance	11	112045193	112045193	Human	1	name
156131482	CV1962729	single nucleotide variant	NM_001931.5(DLAT):c.1867G>C (p.Val623Leu)	Pyruvate dehydrogenase E2 deficiency [RCV002572248]	uncertain significance	11	112062458	112062458	Human	1	name
155964701	CV2034156	single nucleotide variant	NM_001931.5(DLAT):c.1784A>G (p.Asp595Gly)	Pyruvate dehydrogenase E2 deficiency [RCV002731338]	uncertain significance	11	112061144	112061144	Human	1	name
156298182	CV2069758	single nucleotide variant	NM_001931.5(DLAT):c.1771G>T (p.Gly591Cys)	Pyruvate dehydrogenase E2 deficiency [RCV002833495]	uncertain significance	11	112061131	112061131	Human	1	name
10410732	CV211486	single nucleotide variant	NM_001931.5(DLAT):c.1152C>G (p.Ile384Met)	not provided [RCV000198783]	uncertain significance	11	112043488	112043488	Human		name
10411587	CV211487	single nucleotide variant	NM_001931.4(DLAT):c.1229C>G (p.Pro410Arg)	not specified [RCV000200564]	uncertain significance	11	112045169	112045169	Human		name
156159718	CV2136702	single nucleotide variant	NM_001931.5(DLAT):c.1378G>T (p.Val460Leu)	Pyruvate dehydrogenase E2 deficiency [RCV003005015]	uncertain significance	11	112045950	112045950	Human	1	name
156288321	CV2192181	single nucleotide variant	NM_001931.5(DLAT):c.1501A>G (p.Thr501Ala)	Pyruvate dehydrogenase E2 deficiency [RCV003045036]	uncertain significance	11	112051336	112051336	Human	1	name
156119149	CV2228830	single nucleotide variant	NM_001931.5(DLAT):c.1351G>C (p.Asp451His)	Inborn genetic diseases [RCV002762182]	uncertain significance	11	112045923	112045923	Human	1	name
155961026	CV2249569	single nucleotide variant	NM_001931.5(DLAT):c.1486T>G (p.Ser496Ala)	Inborn genetic diseases [RCV002816831]	uncertain significance	11	112051321	112051321	Human	1	name
156273910	CV2277850	single nucleotide variant	NM_001931.5(DLAT):c.1208C>G (p.Ala403Gly)	Inborn genetic diseases [RCV002877764]	uncertain significance	11	112045148	112045148	Human	1	name
156175234	CV2327004	single nucleotide variant	NM_001931.5(DLAT):c.1861C>T (p.Arg621Trp)	Inborn genetic diseases [RCV002930073]	uncertain significance	11	112062452	112062452	Human	1	name
156272206	CV2333906	single nucleotide variant	NM_001931.5(DLAT):c.1840G>T (p.Val614Phe)	Inborn genetic diseases [RCV002960408]	uncertain significance	11	112062431	112062431	Human	1	name
155961488	CV2388048	single nucleotide variant	NM_001931.5(DLAT):c.1045G>C (p.Ala349Pro)	Inborn genetic diseases [RCV002754047]	uncertain significance	11	112039313	112039313	Human	1	name
243057484	CV2412086	single nucleotide variant	NM_001931.5(DLAT):c.1591A>G (p.Ile531Val)	Pyruvate dehydrogenase E2 deficiency [RCV003146100]	uncertain significance	11	112059979	112059979	Human	1	name
329363380	CV2446215	single nucleotide variant	NM_001931.5(DLAT):c.1588C>A (p.His530Asn)	Inborn genetic diseases [RCV003181300]	uncertain significance	11	112059976	112059976	Human	1	name
401875441	CV2749944	single nucleotide variant	NM_001931.5(DLAT):c.1016C>T (p.Thr339Ile)	Pyruvate dehydrogenase E2 deficiency [RCV003333352]	uncertain significance	11	112039284	112039284	Human	1	name
401872868	CV2764388	single nucleotide variant	NM_001931.5(DLAT):c.1774G>A (p.Ala592Thr)	Inborn genetic diseases [RCV003346915]	uncertain significance	11	112061134	112061134	Human	1	name
404983098	CV2950746	single nucleotide variant	NM_001931.5(DLAT):c.1303C>T (p.Arg435Ter)	Pyruvate dehydrogenase E2 deficiency [RCV003603410]	pathogenic	11	112045875	112045875	Human	1	name
11601268	CV312369	single nucleotide variant	NM_001931.5(DLAT):c.1142A>G (p.Asp381Gly)	DLAT-related disorder [RCV003977872]\|Pyruvate dehydrogenase E2 deficiency [RCV000907218]\|not provided [RCV001660588]	likely benign\|uncertain significance	11	112043478	112043478	Human	1	name , trait , alternate_id
405654705	CV3228305	single nucleotide variant	NM_001931.5(DLAT):c.1515A>C (p.Gln505His)	not specified [RCV003995040]	uncertain significance	11	112059903	112059903	Human		name
405706388	CV3244106	single nucleotide variant	NM_001931.5(DLAT):c.1089G>C (p.Lys363Asn)	Inborn genetic diseases [RCV004375971]	uncertain significance	11	112039357	112039357	Human	1	name
405706407	CV3244108	single nucleotide variant	NM_001931.5(DLAT):c.1401A>G (p.Ile467Met)	Inborn genetic diseases [RCV004375973]	likely benign	11	112051236	112051236	Human	1	name
405706414	CV3244109	single nucleotide variant	NM_001931.5(DLAT):c.1412G>T (p.Arg471Ile)	Inborn genetic diseases [RCV004375974]	uncertain significance	11	112051247	112051247	Human	1	name
405706420	CV3244110	single nucleotide variant	NM_001931.5(DLAT):c.1430A>G (p.Asn477Ser)	Inborn genetic diseases [RCV004375975]	uncertain significance	11	112051265	112051265	Human	1	name
11625486	CV325120	single nucleotide variant	NM_001931.5(DLAT):c.1735A>G (p.Ile579Val)	Inborn genetic diseases [RCV003093800]\|Leigh syndrome [RCV005361983]\|Pyruvate dehydrogenase E2 deficiency [RCV002176660]	likely benign\|uncertain significance	11	112061095	112061095	Human	3	name
407474648	CV3430561	single nucleotide variant	NM_001931.5(DLAT):c.1096G>A (p.Val366Ile)	Inborn genetic diseases [RCV004616492]	uncertain significance	11	112039364	112039364	Human	1	name
407474657	CV3430564	single nucleotide variant	NM_001931.5(DLAT):c.1426G>A (p.Val476Ile)	Inborn genetic diseases [RCV004616495]	uncertain significance	11	112051261	112051261	Human	1	name
407474660	CV3430565	single nucleotide variant	NM_001931.5(DLAT):c.1933A>G (p.Met645Val)	Inborn genetic diseases [RCV004616496]	uncertain significance	11	112062524	112062524	Human	1	name
596943465	CV3542947	single nucleotide variant	NM_001931.5(DLAT):c.1907G>C (p.Arg636Thr)	not provided [RCV004798532]	uncertain significance	11	112062498	112062498	Human		name
597658396	CV3662544	single nucleotide variant	NM_001931.5(DLAT):c.1211T>C (p.Val404Ala)	Inborn genetic diseases [RCV004976908]	likely benign	11	112045151	112045151	Human	1	name
597658407	CV3662546	single nucleotide variant	NM_001931.5(DLAT):c.1061G>A (p.Arg354Lys)	Inborn genetic diseases [RCV004976910]	uncertain significance	11	112039329	112039329	Human	1	name
597658419	CV3662549	single nucleotide variant	NM_001931.5(DLAT):c.1313A>G (p.Gln438Arg)	Inborn genetic diseases [RCV004976913]	uncertain significance	11	112045885	112045885	Human	1	name
597658425	CV3662551	single nucleotide variant	NM_001931.5(DLAT):c.1777T>G (p.Ser593Ala)	Inborn genetic diseases [RCV004976914]	uncertain significance	11	112061137	112061137	Human	1	name
598216703	CV3895235	single nucleotide variant	NM_001931.5(DLAT):c.1754C>G (p.Ala585Gly)	Leigh syndrome [RCV005360137]	uncertain significance	11	112061114	112061114	Human	1	name
598173590	CV3964076	single nucleotide variant	NM_001931.5(DLAT):c.1168G>A (p.Asp390Asn)	Inborn genetic diseases [RCV005331562]	uncertain significance	11	112043504	112043504	Human	1	name
616938555	CV4015040	single nucleotide variant	NM_001931.5(DLAT):c.1225G>C (p.Gly409Arg)	not provided [RCV005412056]	uncertain significance	11	112045165	112045165	Human		name
13704182	CV538418	single nucleotide variant	NM_001931.5(DLAT):c.1202C>T (p.Pro401Leu)	Inborn genetic diseases [RCV004972842]\|Pyruvate dehydrogenase E2 deficiency [RCV000660429]	uncertain significance	11	112045142	112045142	Human	2	name
13788215	CV549974	single nucleotide variant	NM_001931.5(DLAT):c.1547G>T (p.Ser516Ile)	Inborn genetic diseases [RCV004972847]\|Pyruvate dehydrogenase E2 deficiency [RCV002531376]\|not provided [RCV000676210]	uncertain significance	11	112059935	112059935	Human	2	name
15149199	CV712599	single nucleotide variant	NM_001931.5(DLAT):c.1636A>G (p.Thr546Ala)	Pyruvate dehydrogenase E2 deficiency [RCV002066407]\|not provided [RCV000967708]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	112060024	112060024	Human	1	name
21074115	CV796516	single nucleotide variant	NM_001931.5(DLAT):c.1509A>G (p.Ile503Met)	Inborn genetic diseases [RCV002549881]\|not provided [RCV000994724]	uncertain significance	11	112051344	112051344	Human	1	name
26913564	CV837947	single nucleotide variant	NM_001931.5(DLAT):c.1712T>C (p.Phe571Ser)	Pyruvate dehydrogenase E2 deficiency [RCV001040101]	uncertain significance	11	112061072	112061072	Human	1	name
38460558	CV919318	single nucleotide variant	NM_001931.5(DLAT):c.1399A>C (p.Ile467Leu)	Pyruvate dehydrogenase E2 deficiency [RCV001196716]	uncertain significance	11	112051234	112051234	Human	1	name
38456696	CV947300	single nucleotide variant	NM_001931.5(DLAT):c.1289G>A (p.Arg430Gln)	Inborn genetic diseases [RCV004032634]\|Pyruvate dehydrogenase E2 deficiency [RCV001228444]	uncertain significance	11	112045229	112045229	Human	2	name
38481552	CV947301	single nucleotide variant	NM_001931.5(DLAT):c.1384A>C (p.Lys462Gln)	Pyruvate dehydrogenase E2 deficiency [RCV001235170]	uncertain significance	11	112045956	112045956	Human	1	name
126749683	CV994291	single nucleotide variant	NM_001931.5(DLAT):c.1310T>G (p.Met437Arg)	Pyruvate dehydrogenase E2 deficiency [RCV001297179]	uncertain significance	11	112045882	112045882	Human	1	name
126755543	CV994292	single nucleotide variant	NM_001931.5(DLAT):c.1406A>G (p.Glu469Gly)	Inborn genetic diseases [RCV003355363]\|Pyruvate dehydrogenase E2 deficiency [RCV001298377]\|not provided [RCV004778048]	uncertain significance	11	112051241	112051241	Human	2	name
13213627	CV429171	deletion	NM_001931.5(DLAT):c.848_849del (p.Asp283fs)	Pyruvate dehydrogenase E2 deficiency [RCV000500244]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	11	112037333	112037334	Human	1	name
126739958	CV1020802	microsatellite	NM_001931.5(DLAT):c.1934TGT[2] (p.Leu647del)	Pyruvate dehydrogenase E2 deficiency [RCV001335882]	pathogenic	11	112062525	112062527	Human		name
8556639	CV17148	deletion	NM_001931.5(DLAT):c.362_364del (p.Glu121del)	Pyruvate dehydrogenase E2 deficiency [RCV000002190]	pathogenic	11	112026279	112026281	Human	1	name
597831435	CV3735114	inversion	NM_001931.5(DLAT):c.953_954inv (p.Val318Ala)	Pyruvate dehydrogenase E2 deficiency [RCV005105399]\|not provided [RCV005054847]	likely benign\|uncertain significance	11	112037438	112037439	Human		name
597831646	CV3863890	deletion	NM_001931.5(DLAT):c.342_344del (p.Glu115del)	Pyruvate dehydrogenase E2 deficiency [RCV005208304]	uncertain significance	11	112026259	112026261	Human	1	name
617154035	CV4022198	microsatellite	NM_001931.5(DLAT):c.1621GTT[1] (p.Val542del)	not provided [RCV005429554]	uncertain significance	11	112060008	112060010	Human		name
156408658	CV1870215	deletion	NM_001931.5(DLAT):c.960_971del (p.Thr322_Pro325del)	Inborn genetic diseases [RCV003071358]\|Pyruvate dehydrogenase E2 deficiency [RCV003071359]	uncertain significance	11	112037440	112037451	Human	2	name
156245986	CV2145426	indel	NM_001931.5(DLAT):c.1171_1172delinsAT (p.Ser391Ile)	Pyruvate dehydrogenase E2 deficiency [RCV003008271]	uncertain significance	11	112043507	112043508	Human		name
151750536	CV1430479	duplication	NM_001931.5(DLAT):c.1806_1808dup (p.Asn602_Glu603insAsp)	Pyruvate dehydrogenase E2 deficiency [RCV002006819]	uncertain significance	11	112061164	112061165	Human	1	name
156257229	CV1875417	duplication	NM_001931.5(DLAT):c.561_584dup (p.Pro197_Ala198insGlnAlaAlaProAlaProThrPro)	Pyruvate dehydrogenase E2 deficiency [RCV003060233]	uncertain significance	11	112028838	112028839	Human	1	name

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