Pdha1 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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639 records found for search term Pdha1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
405266164	CV3221111	single nucleotide variant	NM_000284.4(PDHA1):c.*90T>A	PDHA1-related disorder [RCV003969229]	likely benign	X	19359743	19359743	Human		name , trait , alternate_id
12844312	CV380015	single nucleotide variant	NM_000284.4(PDHA1):c.-23G>C	not provided [RCV001704548]	likely benign	X	19344015	19344015	Human		name
28887375	CV902942	single nucleotide variant	NM_000284.4(PDHA1):c.-98C>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV001169323]	benign	X	19343940	19343940	Human	1	name
28887379	CV902943	single nucleotide variant	NM_000284.4(PDHA1):c.-88G>A	Pyruvate dehydrogenase E1-alpha deficiency [RCV001169324]\|not provided [RCV001638047]	benign	X	19343950	19343950	Human	1	name
28887384	CV902944	single nucleotide variant	NM_000284.4(PDHA1):c.-79C>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV001169325]	uncertain significance	X	19343959	19343959	Human	1	name
152124218	CV1665650	single nucleotide variant	NM_000284.4(PDHA1):c.58-4T>C	Pyruvate dehydrogenase E1-alpha deficiency [RCV002198463]	likely benign	X	19349308	19349308	Human	1	name
156056210	CV2165591	single nucleotide variant	NM_000284.4(PDHA1):c.57+8C>A	Pyruvate dehydrogenase E1-alpha deficiency [RCV003019566]	likely benign	X	19344102	19344102	Human	1	name
156302156	CV2166520	single nucleotide variant	NM_000284.4(PDHA1):c.58-8C>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV003045603]	likely benign	X	19349304	19349304	Human	1	name
402516359	CV2933267	single nucleotide variant	NM_000284.4(PDHA1):c.57+7C>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV003510417]	likely benign	X	19344101	19344101	Human	1	name
597877969	CV3766612	single nucleotide variant	NM_000284.4(PDHA1):c.58-4T>A	Pyruvate dehydrogenase E1-alpha deficiency [RCV005108552]	likely benign	X	19349308	19349308	Human	1	name
13810197	CV574444	single nucleotide variant	NM_000284.4(PDHA1):c.58-1G>A	Pyruvate dehydrogenase E1-alpha deficiency [RCV000688120]	pathogenic	X	19349311	19349311	Human	1	name
14730395	CV669913	single nucleotide variant	NM_000284.3(PDHA1):c.-195G>A	not provided [RCV000835658]	benign	X	19343843	19343843	Human		name
15195436	CV776966	single nucleotide variant	NM_000284.4(PDHA1):c.57+6A>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV000933938]	likely benign	X	19344100	19344100	Human	1	name
28877275	CV902947	single nucleotide variant	NM_000284.4(PDHA1):c.*110C>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV001166394]\|Pyruvate dehydrogenase complex deficiency [RCV001828582]\|not provided [RCV001712865]	benign	X	19359763	19359763	Human	3	name
28878999	CV902948	single nucleotide variant	NM_000284.4(PDHA1):c.*198G>A	Pyruvate dehydrogenase E1-alpha deficiency [RCV001166911]	uncertain significance	X	19359851	19359851	Human	1	name
28879003	CV902949	single nucleotide variant	NM_000284.4(PDHA1):c.*319G>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV001166912]\|not provided [RCV004714200]	benign	X	19359972	19359972	Human	1	name
28879007	CV902950	single nucleotide variant	NM_000284.4(PDHA1):c.*321C>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV001166913]	uncertain significance	X	19359974	19359974	Human	1	name
28879011	CV902951	single nucleotide variant	NM_000284.4(PDHA1):c.*322G>A	Pyruvate dehydrogenase E1-alpha deficiency [RCV001166914]\|not provided [RCV004714201]	benign	X	19359975	19359975	Human	1	name
28879016	CV902952	single nucleotide variant	NM_000284.4(PDHA1):c.*349A>G	Pyruvate dehydrogenase E1-alpha deficiency [RCV001166915]	uncertain significance	X	19360002	19360002	Human	1	name
28879020	CV902953	single nucleotide variant	NM_000284.4(PDHA1):c.*392G>A	Pyruvate dehydrogenase E1-alpha deficiency [RCV001166916]	benign	X	19360045	19360045	Human	1	name
28879022	CV902954	single nucleotide variant	NM_000284.4(PDHA1):c.*432C>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV001166917]\|not provided [RCV003438702]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	19360085	19360085	Human	1	name
28879025	CV902955	single nucleotide variant	NM_000284.4(PDHA1):c.*525C>G	Pyruvate dehydrogenase E1-alpha deficiency [RCV001166918]	benign	X	19360178	19360178	Human	1	name
28884930	CV902956	single nucleotide variant	NM_000284.4(PDHA1):c.*549A>G	Pyruvate dehydrogenase E1-alpha deficiency [RCV001168625]\|not provided [RCV002512142]	likely benign\|uncertain significance	X	19360202	19360202	Human	1	name
28884932	CV902957	single nucleotide variant	NM_000284.4(PDHA1):c.*575T>C	Pyruvate dehydrogenase E1-alpha deficiency [RCV001168626]\|not provided [RCV003438708]	likely benign\|uncertain significance	X	19360228	19360228	Human	1	name
28884937	CV902958	single nucleotide variant	NM_000284.4(PDHA1):c.*614G>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV001168627]\|not provided [RCV004714203]	benign	X	19360267	19360267	Human	1	name
28884944	CV902959	single nucleotide variant	NM_000284.4(PDHA1):c.*707G>A	Pyruvate dehydrogenase E1-alpha deficiency [RCV001168628]	benign	X	19360360	19360360	Human	1	name
28884950	CV902960	single nucleotide variant	NM_000284.4(PDHA1):c.*728C>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV001168629]\|not provided [RCV004714204]	benign	X	19360381	19360381	Human	1	name
28884957	CV902961	single nucleotide variant	NM_000284.4(PDHA1):c.*729G>A	Pyruvate dehydrogenase E1-alpha deficiency [RCV001168630]	uncertain significance	X	19360382	19360382	Human	1	name
28884960	CV902962	single nucleotide variant	NM_000284.4(PDHA1):c.*844A>G	Pyruvate dehydrogenase E1-alpha deficiency [RCV001168631]\|not provided [RCV004714205]	benign	X	19360497	19360497	Human	1	name
28884965	CV902963	single nucleotide variant	NM_000284.4(PDHA1):c.*857A>G	Pyruvate dehydrogenase E1-alpha deficiency [RCV001168632]	benign	X	19360510	19360510	Human	1	name
28887605	CV902964	single nucleotide variant	NM_000284.4(PDHA1):c.*864G>A	Pyruvate dehydrogenase E1-alpha deficiency [RCV001169390]	benign	X	19360517	19360517	Human	1	name
126741748	CV1018964	single nucleotide variant	NM_000284.4(PDHA1):c.899+2T>A	Pyruvate dehydrogenase E1-alpha deficiency [RCV001329773]	pathogenic	X	19357721	19357721	Human	1	name
127236592	CV1108224	single nucleotide variant	NM_000284.4(PDHA1):c.117+7G>A	Pyruvate dehydrogenase E1-alpha deficiency [RCV001422554]	likely benign	X	19349378	19349378	Human	1	name
127282356	CV1108226	single nucleotide variant	NM_000284.4(PDHA1):c.292-9C>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV001447760]	likely benign	X	19351272	19351272	Human	1	name
127266194	CV1108227	single nucleotide variant	NM_000284.4(PDHA1):c.604-8A>G	Pyruvate dehydrogenase E1-alpha deficiency [RCV001440182]	likely benign	X	19355341	19355341	Human	1	name
127256973	CV1108232	single nucleotide variant	NM_000284.4(PDHA1):c.759+8C>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV001437818]	likely benign	X	19355512	19355512	Human	1	name
127304726	CV1129590	single nucleotide variant	NM_000284.4(PDHA1):c.117+9T>G	Pyruvate dehydrogenase E1-alpha deficiency [RCV001462330]	likely benign	X	19349380	19349380	Human	1	name
127310225	CV1129591	single nucleotide variant	NM_000284.4(PDHA1):c.118-8C>A	Pyruvate dehydrogenase E1-alpha deficiency [RCV001463811]	likely benign	X	19349929	19349929	Human	1	name
127332858	CV1129598	single nucleotide variant	NM_000284.4(PDHA1):c.419-8A>G	Pyruvate dehydrogenase E1-alpha deficiency [RCV001472538]	likely benign	X	19353074	19353074	Human	1	name
127327929	CV1129600	single nucleotide variant	NM_000284.4(PDHA1):c.511-6T>C	Pyruvate dehydrogenase E1-alpha deficiency [RCV001469330]	likely benign	X	19354485	19354485	Human	1	name
127325463	CV1129603	single nucleotide variant	NM_000284.4(PDHA1):c.899+4C>T	Inborn genetic diseases [RCV002561295]\|Pyruvate dehydrogenase E1-alpha deficiency [RCV001468509]	likely benign\|uncertain significance	X	19357723	19357723	Human	2	name
127302425	CV1150641	single nucleotide variant	NM_000284.4(PDHA1):c.292-7A>G	Pyruvate dehydrogenase E1-alpha deficiency [RCV001478939]	likely benign	X	19351274	19351274	Human	1	name
127337554	CV1150642	single nucleotide variant	NM_000284.4(PDHA1):c.511-5G>A	Pyruvate dehydrogenase E1-alpha deficiency [RCV001492912]	likely benign	X	19354486	19354486	Human	1	name
127293659	CV1159518	single nucleotide variant	NM_000284.4(PDHA1):c.418+8G>A	Pyruvate dehydrogenase E1-alpha deficiency [RCV001511416]	benign	X	19351415	19351415	Human	1	name
127312302	CV1159520	single nucleotide variant	NM_000284.4(PDHA1):c.759+9A>G	Pyruvate dehydrogenase E1-alpha deficiency [RCV001518906]\|Pyruvate dehydrogenase complex deficiency [RCV001836436]	benign\|likely benign	X	19355513	19355513	Human	3	name
150486261	CV1203270	single nucleotide variant	NM_000284.4(PDHA1):c.58-84C>T	not provided [RCV001591448]	likely benign	X	19349228	19349228	Human		name
150534270	CV1299071	single nucleotide variant	NM_000284.4(PDHA1):c.*1721C>G	not provided [RCV001756764]	uncertain significance	X	19361374	19361374	Human		name
151724609	CV1496647	single nucleotide variant	NM_000284.4(PDHA1):c.832-6T>C	Pyruvate dehydrogenase E1-alpha deficiency [RCV001910177]	likely benign\|uncertain significance	X	19357646	19357646	Human	1	name
152150414	CV1531371	single nucleotide variant	NM_000284.4(PDHA1):c.900-4A>C	Pyruvate dehydrogenase E1-alpha deficiency [RCV002201875]	likely benign	X	19358912	19358912	Human	1	name
152032946	CV1538074	single nucleotide variant	NM_000284.4(PDHA1):c.899+9A>C	Pyruvate dehydrogenase E1-alpha deficiency [RCV002186995]	likely benign	X	19357728	19357728	Human	1	name
152126130	CV1548830	single nucleotide variant	NM_000284.4(PDHA1):c.831+8T>G	Pyruvate dehydrogenase E1-alpha deficiency [RCV002082240]	likely benign	X	19355765	19355765	Human	1	name
152057211	CV1647393	single nucleotide variant	NM_000284.4(PDHA1):c.291+8G>A	Pyruvate dehydrogenase E1-alpha deficiency [RCV002208238]	likely benign	X	19350118	19350118	Human	1	name
152125803	CV1665843	single nucleotide variant	NM_000284.4(PDHA1):c.57+11C>G	Pyruvate dehydrogenase E1-alpha deficiency [RCV002198656]	likely benign	X	19344105	19344105	Human	1	name
152035734	CV1670194	single nucleotide variant	NM_000284.4(PDHA1):c.*1908G>A	not provided [RCV002223728]	uncertain significance	X	19361561	19361561	Human		name
155644952	CV1710480	single nucleotide variant	NM_000284.4(PDHA1):c.760-3C>G	not provided [RCV002293776]	uncertain significance	X	19355683	19355683	Human		name
156391916	CV1872953	single nucleotide variant	NM_000284.4(PDHA1):c.418+8G>C	Pyruvate dehydrogenase E1-alpha deficiency [RCV003051421]	likely benign	X	19351415	19351415	Human	1	name
156214272	CV1997326	single nucleotide variant	NM_000284.4(PDHA1):c.900-4A>G	Pyruvate dehydrogenase E1-alpha deficiency [RCV002666964]	likely benign	X	19358912	19358912	Human	1	name
156117339	CV2055117	single nucleotide variant	NM_000284.4(PDHA1):c.292-8T>A	Pyruvate dehydrogenase E1-alpha deficiency [RCV002825161]	likely benign	X	19351273	19351273	Human	1	name
155996993	CV2109548	single nucleotide variant	NM_000284.4(PDHA1):c.603+8T>G	Pyruvate dehydrogenase E1-alpha deficiency [RCV002947605]	likely benign	X	19354591	19354591	Human	1	name
10410605	CV212005	single nucleotide variant	NM_000284.4(PDHA1):c.292-1G>A	Pyruvate dehydrogenase E1-alpha deficiency [RCV001853189]\|not provided [RCV000198524]	pathogenic\|likely pathogenic	X	19351280	19351280	Human	1	name
11560139	CV260294	single nucleotide variant	NM_000284.4(PDHA1):c.760-1G>T	not provided [RCV000255781]	pathogenic	X	19355685	19355685	Human		name
401931182	CV2821315	single nucleotide variant	NM_000284.4(PDHA1):c.*1302G>A	not provided [RCV003441114]	likely benign	X	19360955	19360955	Human		name
402519102	CV2856998	single nucleotide variant	NM_000284.4(PDHA1):c.57+17G>A	Pyruvate dehydrogenase E1-alpha deficiency [RCV003510641]	likely benign	X	19344111	19344111	Human	1	name
404980685	CV2894745	single nucleotide variant	NM_000284.4(PDHA1):c.57+16C>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV003511450]	likely benign	X	19344110	19344110	Human	1	name
402514849	CV2932223	single nucleotide variant	NM_000284.4(PDHA1):c.604-4C>G	Pyruvate dehydrogenase E1-alpha deficiency [RCV003510289]	likely benign	X	19355345	19355345	Human	1	name
402464706	CV2956405	single nucleotide variant	NM_000284.4(PDHA1):c.760-5A>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV003622475]	likely benign	X	19355681	19355681	Human	1	name
405169363	CV2958572	single nucleotide variant	NM_000284.4(PDHA1):c.603+9G>A	Pyruvate dehydrogenase E1-alpha deficiency [RCV003621964]	likely benign	X	19354592	19354592	Human	1	name
402468483	CV3026302	single nucleotide variant	NM_000284.4(PDHA1):c.899+2T>C	Pyruvate dehydrogenase E1-alpha deficiency [RCV003623453]	likely pathogenic	X	19357721	19357721	Human	1	name
402469801	CV3045217	single nucleotide variant	NM_000284.4(PDHA1):c.831+7C>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV003623807]	likely benign	X	19355764	19355764	Human	1	name
405172728	CV3071208	single nucleotide variant	NM_000284.4(PDHA1):c.58-18A>C	Pyruvate dehydrogenase E1-alpha deficiency [RCV003622278]	benign	X	19349294	19349294	Human	1	name
402464369	CV3072290	single nucleotide variant	NM_000284.4(PDHA1):c.900-8C>G	Pyruvate dehydrogenase E1-alpha deficiency [RCV003622389]	benign	X	19358908	19358908	Human	1	name
405163054	CV3160328	single nucleotide variant	NM_000284.4(PDHA1):c.57+17G>C	Pyruvate dehydrogenase E1-alpha deficiency [RCV003857207]	likely benign	X	19344111	19344111	Human	1	name
12849443	CV363794	single nucleotide variant	NM_000284.4(PDHA1):c.*1869G>C	MAP3K15-related disorder [RCV003922687]\|Pyruvate dehydrogenase E1-alpha deficiency [RCV001166981]\|not provided [RCV000430059]	benign	X	19361522	19361522	Human	6	name
12849443	CV363794	single nucleotide variant	NM_000284.4(PDHA1):c.*1869G>C	MAP3K15-related disorder [RCV003922687]\|Pyruvate dehydrogenase E1-alpha deficiency [RCV001166981]\|not provided [RCV000430059]	benign	X	19361522	19361523	Human	6	name
597852206	CV3805653	single nucleotide variant	NM_000284.4(PDHA1):c.117+6A>C	Pyruvate dehydrogenase E1-alpha deficiency [RCV005145583]	uncertain significance	X	19349377	19349377	Human	1	name
597898933	CV3854610	single nucleotide variant	NM_000284.4(PDHA1):c.899+4C>A	Pyruvate dehydrogenase E1-alpha deficiency [RCV005201717]	uncertain significance	X	19357723	19357723	Human	1	name
598125142	CV3885611	single nucleotide variant	NM_000284.4(PDHA1):c.419-9C>A	not specified [RCV005240189]	likely benign	X	19353073	19353073	Human		name
13477910	CV446607	single nucleotide variant	NM_000284.4(PDHA1):c.900-2A>G	not provided [RCV000520525]	pathogenic	X	19358914	19358914	Human		name
13539353	CV508510	single nucleotide variant	NM_000284.4(PDHA1):c.292-5C>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV000893425]\|not provided [RCV001719097]	benign\|likely benign	X	19351276	19351276	Human	1	name
13530991	CV512636	single nucleotide variant	NM_000284.4(PDHA1):c.832-1G>A	Inborn genetic diseases [RCV000622952]	pathogenic	X	19357651	19357651	Human	1	name
15101830	CV760852	single nucleotide variant	NM_000284.4(PDHA1):c.899+9A>G	Pyruvate dehydrogenase E1-alpha deficiency [RCV001426990]	likely benign	X	19357728	19357728	Human	1	name
15172342	CV776967	deletion	NM_000284.4(PDHA1):c.759+9del	Pyruvate dehydrogenase E1-alpha deficiency [RCV001439113]	likely benign	X	19355513	19355513	Human	1	name
15116349	CV788350	single nucleotide variant	NM_000284.4(PDHA1):c.899+8C>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV001445395]	likely benign	X	19357727	19357727	Human	1	name
28880136	CV860828	single nucleotide variant	NM_000284.4(PDHA1):c.831+2T>C	not provided [RCV001091319]	pathogenic	X	19355759	19355759	Human		name
28887611	CV902965	single nucleotide variant	NM_000284.4(PDHA1):c.*1013C>A	Pyruvate dehydrogenase E1-alpha deficiency [RCV001169391]\|not provided [RCV004714206]	benign	X	19360666	19360666	Human	1	name
28887615	CV902966	single nucleotide variant	NM_000284.4(PDHA1):c.*1059G>A	Pyruvate dehydrogenase E1-alpha deficiency [RCV001169392]\|not provided [RCV004714207]	benign	X	19360712	19360712	Human	1	name
28887621	CV902967	single nucleotide variant	NM_000284.4(PDHA1):c.*1208A>C	Pyruvate dehydrogenase E1-alpha deficiency [RCV001169393]\|not provided [RCV004714208]	benign	X	19360861	19360861	Human	1	name
28887624	CV902968	single nucleotide variant	NM_000284.4(PDHA1):c.*1297G>A	Pyruvate dehydrogenase E1-alpha deficiency [RCV001169394]	uncertain significance	X	19360950	19360950	Human	1	name
28887627	CV902969	single nucleotide variant	NM_000284.4(PDHA1):c.*1306G>A	Pyruvate dehydrogenase E1-alpha deficiency [RCV001169395]	uncertain significance	X	19360959	19360959	Human	1	name
28887633	CV902970	single nucleotide variant	NM_000284.4(PDHA1):c.*1345A>G	Pyruvate dehydrogenase E1-alpha deficiency [RCV001169396]	benign	X	19360998	19360998	Human	1	name
28887636	CV902971	single nucleotide variant	NM_000284.4(PDHA1):c.*1347C>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV001169397]	uncertain significance	X	19361000	19361000	Human	1	name
28877453	CV902972	single nucleotide variant	NM_000284.4(PDHA1):c.*1376C>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV001166445]	uncertain significance	X	19361029	19361029	Human	1	name
28877460	CV902973	single nucleotide variant	NM_000284.4(PDHA1):c.*1377G>A	Pyruvate dehydrogenase E1-alpha deficiency [RCV001166446]\|not provided [RCV004714195]	benign	X	19361030	19361030	Human	1	name
28877466	CV902974	single nucleotide variant	NM_000284.4(PDHA1):c.*1394C>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV001166447]\|not provided [RCV004714196]	benign	X	19361047	19361047	Human	1	name
28877473	CV902975	single nucleotide variant	NM_000284.4(PDHA1):c.*1450C>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV001166448]	benign	X	19361103	19361103	Human	1	name
28877479	CV902976	single nucleotide variant	NM_000284.4(PDHA1):c.*1458C>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV001166449]	uncertain significance	X	19361111	19361111	Human	1	name
28877484	CV902977	single nucleotide variant	NM_000284.4(PDHA1):c.*1563C>G	Pyruvate dehydrogenase E1-alpha deficiency [RCV001166450]	benign	X	19361216	19361216	Human	1	name
28877490	CV902978	single nucleotide variant	NM_000284.4(PDHA1):c.*1598G>C	Pyruvate dehydrogenase E1-alpha deficiency [RCV001166451]\|not provided [RCV004714197]	benign	X	19361251	19361251	Human	1	name
28877495	CV902979	single nucleotide variant	NM_000284.4(PDHA1):c.*1624T>C	Pyruvate dehydrogenase E1-alpha deficiency [RCV001166452]	uncertain significance	X	19361277	19361277	Human	1	name
28879233	CV902980	single nucleotide variant	NM_000284.4(PDHA1):c.*1682T>C	MAP3K15-related disorder [RCV003963105]\|Pyruvate dehydrogenase E1-alpha deficiency [RCV001166979]\|not provided [RCV004714202]	benign	X	19361335	19361335	Human	2	name
28879236	CV902981	single nucleotide variant	NM_000284.4(PDHA1):c.*1779A>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV001166980]	uncertain significance	X	19361432	19361432	Human	1	name
28879242	CV902982	single nucleotide variant	NM_000284.4(PDHA1):c.*1926G>C	Pyruvate dehydrogenase E1-alpha deficiency [RCV001166982]	likely benign	X	19361579	19361579	Human	1	name
34891936	CV906149	duplication	NM_000284.4(PDHA1):c.900-2dup	Pyruvate dehydrogenase complex deficiency [RCV001833731]\|not provided [RCV001664731]\|not specified [RCV001175036]	uncertain significance	X	19358913	19358914	Human	2	name
127305162	CV1150645	single nucleotide variant	NM_000284.4(PDHA1):c.900-10C>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV001499847]	likely benign	X	19358906	19358906	Human	1	name
127308873	CV1159522	single nucleotide variant	NM_000284.4(PDHA1):c.1009-9A>C	Pyruvate dehydrogenase E1-alpha deficiency [RCV001517658]	benign	X	19359480	19359480	Human	1	name
150415840	CV1192474	single nucleotide variant	NM_000284.4(PDHA1):c.511-54G>A	Pyruvate dehydrogenase complex deficiency [RCV001836451]\|not provided [RCV001568163]	likely benign	X	19354437	19354437	Human	2	name
150420568	CV1199458	single nucleotide variant	NM_000284.4(PDHA1):c.291+74C>T	not provided [RCV001577668]	likely benign	X	19350184	19350184	Human		name
150463456	CV1206734	single nucleotide variant	NM_000284.4(PDHA1):c.292-59C>T	Pyruvate dehydrogenase complex deficiency [RCV001827531]\|not provided [RCV001587135]	likely benign	X	19351222	19351222	Human	2	name
150513643	CV1211345	single nucleotide variant	NM_000284.4(PDHA1):c.57+289T>C	not provided [RCV001598533]	likely benign	X	19344383	19344383	Human		name
150431433	CV1235445	single nucleotide variant	NM_000284.4(PDHA1):c.832-60C>T	not provided [RCV001641815]	benign	X	19357592	19357592	Human		name
150489558	CV1238964	single nucleotide variant	NM_000284.4(PDHA1):c.831+92C>G	not provided [RCV001654532]	benign	X	19355849	19355849	Human		name
150505468	CV1255480	single nucleotide variant	NM_000284.4(PDHA1):c.58-260A>C	not provided [RCV001677927]	benign	X	19349052	19349052	Human		name
150485670	CV1280808	single nucleotide variant	NM_000284.4(PDHA1):c.291+52C>T	not provided [RCV001715643]	benign	X	19350162	19350162	Human		name
150442962	CV1287811	single nucleotide variant	NM_000284.4(PDHA1):c.118-76G>A	not provided [RCV001725532]	benign	X	19349861	19349861	Human		name
8692379	CV142348	single nucleotide variant	NM_000284.4(PDHA1):c.604-15C>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV001522796]\|not provided [RCV004713341]\|not specified [RCV000127396]	benign	X	19355334	19355334	Human	1	name
8692380	CV142349	single nucleotide variant	NM_000284.4(PDHA1):c.831+15C>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV001166392]\|not provided [RCV004713342]\|not specified [RCV000127399]	benign	X	19355772	19355772	Human	1	name
8692381	CV142350	single nucleotide variant	NM_000284.4(PDHA1):c.899+12G>A	Pyruvate dehydrogenase E1-alpha deficiency [RCV002055743]\|not specified [RCV000127401]	benign	X	19357731	19357731	Human	1	name
152095461	CV1575251	single nucleotide variant	NM_000284.4(PDHA1):c.1008+7T>G	Pyruvate dehydrogenase E1-alpha deficiency [RCV002132566]	benign	X	19359031	19359031	Human	1	name
152126478	CV1596249	single nucleotide variant	NM_000284.4(PDHA1):c.899+10T>C	Pyruvate dehydrogenase E1-alpha deficiency [RCV002118523]	benign	X	19357729	19357729	Human	1	name
152108069	CV1661987	single nucleotide variant	NM_000284.4(PDHA1):c.292-11C>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV002116179]	benign	X	19351270	19351270	Human	1	name
152983229	CV1678058	single nucleotide variant	NM_000284.4(PDHA1):c.292-27T>G	not specified [RCV002250213]	benign	X	19351254	19351254	Human		name
156396246	CV1924807	single nucleotide variant	NM_000284.4(PDHA1):c.117+17T>G	Pyruvate dehydrogenase E1-alpha deficiency [RCV002654937]	benign	X	19349388	19349388	Human	1	name
156219811	CV1955671	single nucleotide variant	NM_000284.4(PDHA1):c.760-13T>C	Pyruvate dehydrogenase E1-alpha deficiency [RCV002596412]	likely benign	X	19355673	19355673	Human	1	name
156412266	CV1966947	single nucleotide variant	NM_000284.4(PDHA1):c.604-19T>G	Pyruvate dehydrogenase E1-alpha deficiency [RCV002608492]	likely benign	X	19355330	19355330	Human	1	name
156196765	CV2024379	single nucleotide variant	NM_000284.4(PDHA1):c.760-18T>G	Pyruvate dehydrogenase E1-alpha deficiency [RCV002711264]	likely benign	X	19355668	19355668	Human	1	name
10410331	CV212010	single nucleotide variant	NM_000284.4(PDHA1):c.604-10C>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV000963408]\|not provided [RCV004713405]\|not specified [RCV000197964]	benign	X	19355339	19355339	Human	1	name
10410917	CV212013	single nucleotide variant	NM_000284.4(PDHA1):c.899+18G>A	Pyruvate dehydrogenase E1-alpha deficiency [RCV002054336]\|not specified [RCV000199164]	benign	X	19357737	19357737	Human	1	name
156294372	CV2152890	single nucleotide variant	NM_000284.4(PDHA1):c.118-13T>A	Pyruvate dehydrogenase E1-alpha deficiency [RCV003010098]	likely benign	X	19349924	19349924	Human	1	name
401931181	CV2821314	single nucleotide variant	NM_000284.4(PDHA1):c.759+24G>A	not provided [RCV003441113]	likely benign	X	19355528	19355528	Human		name
401964313	CV2843623	single nucleotide variant	NM_000284.4(PDHA1):c.510+18T>C	Pyruvate dehydrogenase E1-alpha deficiency [RCV003779196]\|not specified [RCV003479966]	likely benign	X	19353191	19353191	Human	1	name
402510060	CV2860865	single nucleotide variant	NM_000284.4(PDHA1):c.900-16T>C	Pyruvate dehydrogenase E1-alpha deficiency [RCV003509889]	likely benign	X	19358900	19358900	Human	1	name
402519897	CV2867405	single nucleotide variant	NM_000284.4(PDHA1):c.419-20G>C	Pyruvate dehydrogenase E1-alpha deficiency [RCV003510729]	likely benign	X	19353062	19353062	Human	1	name
404980461	CV2883955	single nucleotide variant	NM_000284.4(PDHA1):c.510+13G>A	Pyruvate dehydrogenase E1-alpha deficiency [RCV003511411]	likely benign	X	19353186	19353186	Human	1	name
402507378	CV2896927	single nucleotide variant	NM_000284.4(PDHA1):c.760-13T>G	Pyruvate dehydrogenase E1-alpha deficiency [RCV003509273]	likely benign	X	19355673	19355673	Human	1	name
402504994	CV2906208	single nucleotide variant	NM_000284.4(PDHA1):c.899+15A>G	Pyruvate dehydrogenase E1-alpha deficiency [RCV003509169]	likely benign	X	19357734	19357734	Human	1	name
402505062	CV2906399	single nucleotide variant	NM_000284.4(PDHA1):c.604-15C>G	Pyruvate dehydrogenase E1-alpha deficiency [RCV003509177]	likely benign	X	19355334	19355334	Human	1	name
402513213	CV2911441	single nucleotide variant	NM_000284.4(PDHA1):c.604-14G>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV003510167]	likely benign	X	19355335	19355335	Human	1	name
405169328	CV2950207	single nucleotide variant	NM_000284.4(PDHA1):c.759+11C>G	Pyruvate dehydrogenase E1-alpha deficiency [RCV003621910]	likely benign	X	19355515	19355515	Human	1	name
405169174	CV2957688	single nucleotide variant	NM_000284.4(PDHA1):c.832-14C>G	Pyruvate dehydrogenase E1-alpha deficiency [RCV003621923]	likely benign	X	19357638	19357638	Human	1	name
402466817	CV2992553	single nucleotide variant	NM_000284.4(PDHA1):c.899+15A>C	Pyruvate dehydrogenase E1-alpha deficiency [RCV003623013]	likely benign	X	19357734	19357734	Human	1	name
402469878	CV3048743	deletion	NM_000284.4(PDHA1):c.900-10del	Pyruvate dehydrogenase E1-alpha deficiency [RCV003623827]	likely benign	X	19358904	19358904	Human	1	name
402469393	CV3049897	single nucleotide variant	NM_000284.4(PDHA1):c.831+18T>G	Pyruvate dehydrogenase E1-alpha deficiency [RCV003623696]	likely benign	X	19355775	19355775	Human	1	name
402469711	CV3054712	single nucleotide variant	NM_000284.4(PDHA1):c.604-14G>C	Pyruvate dehydrogenase E1-alpha deficiency [RCV003623783]	likely benign	X	19355335	19355335	Human	1	name
405170596	CV3061335	duplication	NM_000284.4(PDHA1):c.760-14dup	Pyruvate dehydrogenase E1-alpha deficiency [RCV003622077]	benign	X	19355668	19355669	Human	1	name
405170441	CV3064350	single nucleotide variant	NM_000284.4(PDHA1):c.419-20G>A	Pyruvate dehydrogenase E1-alpha deficiency [RCV003622064]	likely benign	X	19353062	19353062	Human	1	name
405171382	CV3065917	single nucleotide variant	NM_000284.4(PDHA1):c.831+16C>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV003622149]	likely benign	X	19355773	19355773	Human	1	name
405171535	CV3069822	duplication	NM_000284.4(PDHA1):c.759+21dup	Pyruvate dehydrogenase E1-alpha deficiency [RCV003622163]	benign	X	19355521	19355522	Human	1	name
405171902	CV3072879	single nucleotide variant	NM_000284.4(PDHA1):c.292-16C>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV003622198]	likely benign	X	19351265	19351265	Human	1	name
402464262	CV3074620	single nucleotide variant	NM_000284.4(PDHA1):c.760-11T>C	Pyruvate dehydrogenase E1-alpha deficiency [RCV003622354]	likely benign	X	19355675	19355675	Human	1	name
402464273	CV3074737	single nucleotide variant	NM_000284.4(PDHA1):c.511-19C>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV003622358]	likely benign	X	19354472	19354472	Human	1	name
405172219	CV3075813	single nucleotide variant	NM_000284.4(PDHA1):c.832-14C>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV003622227]	benign	X	19357638	19357638	Human	1	name
402464316	CV3080391	single nucleotide variant	NM_000284.4(PDHA1):c.511-12C>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV003622374]	likely benign	X	19354479	19354479	Human	1	name
402464322	CV3080606	single nucleotide variant	NM_000284.4(PDHA1):c.760-19C>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV003622376]	likely benign	X	19355667	19355667	Human	1	name
405171776	CV3151733	single nucleotide variant	NM_000284.4(PDHA1):c.760-19C>A	Pyruvate dehydrogenase E1-alpha deficiency [RCV003857884]	likely benign	X	19355667	19355667	Human	1	name
405142425	CV3155348	single nucleotide variant	NM_000284.4(PDHA1):c.1008+4C>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV003855586]	uncertain significance	X	19359028	19359028	Human	1	name
405251657	CV3177440	single nucleotide variant	NM_000284.4(PDHA1):c.117+15A>G	Pyruvate dehydrogenase E1-alpha deficiency [RCV003870398]	likely benign	X	19349386	19349386	Human	1	name
405271237	CV3219007	single nucleotide variant	NM_000284.4(PDHA1):c.759+23C>T	PDHA1-related disorder [RCV003971733]	likely benign	X	19355527	19355527	Human		name , trait , alternate_id
405281430	CV3224116	duplication	NM_000284.4(PDHA1):c.510+19dup	not specified [RCV003988498]	likely benign	X	19353190	19353191	Human		name
12741795	CV361266	single nucleotide variant	NM_000284.4(PDHA1):c.292-23A>G	Pyruvate dehydrogenase E1-alpha deficiency [RCV000415131]	pathogenic\|likely benign\|conflicting interpretations of pathogenicity	X	19351258	19351258	Human	1	name
597921121	CV3765220	single nucleotide variant	NM_000284.4(PDHA1):c.292-10T>A	Pyruvate dehydrogenase E1-alpha deficiency [RCV005115237]	likely benign	X	19351271	19351271	Human	1	name
597944807	CV3776696	single nucleotide variant	NM_000284.4(PDHA1):c.118-20A>C	Pyruvate dehydrogenase E1-alpha deficiency [RCV005119552]	likely benign	X	19349917	19349917	Human	1	name
12847752	CV378093	single nucleotide variant	NM_000284.4(PDHA1):c.117+19T>A	Pyruvate dehydrogenase E1-alpha deficiency [RCV002521590]\|not specified [RCV000444048]	benign\|likely benign	X	19349390	19349390	Human	1	name
12845266	CV378094	single nucleotide variant	NM_000284.4(PDHA1):c.900-10C>A	Pyruvate dehydrogenase E1-alpha deficiency [RCV002059837]\|not specified [RCV000439497]	likely benign	X	19358906	19358906	Human	1	name
597878374	CV3783104	single nucleotide variant	NM_000284.4(PDHA1):c.760-15C>G	Pyruvate dehydrogenase E1-alpha deficiency [RCV005123806]	likely benign	X	19355671	19355671	Human	1	name
12847635	CV379175	single nucleotide variant	NM_000284.4(PDHA1):c.604-14G>A	Pyruvate dehydrogenase E1-alpha deficiency [RCV002521530]\|not provided [RCV001815324]\|not specified [RCV000443835]	benign\|likely benign	X	19355335	19355335	Human	1	name
12844299	CV380016	single nucleotide variant	NM_000284.4(PDHA1):c.510+12C>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV002061460]\|not provided [RCV004713936]\|not specified [RCV000437755]	benign	X	19353185	19353185	Human	1	name
597919790	CV3842667	single nucleotide variant	NM_000284.4(PDHA1):c.118-16C>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV005184152]	likely benign	X	19349921	19349921	Human	1	name
13526734	CV508140	single nucleotide variant	NM_000284.4(PDHA1):c.900-17C>T	not specified [RCV000604536]	likely benign	X	19358899	19358899	Human		name
13527654	CV508509	single nucleotide variant	NM_000284.4(PDHA1):c.118-17A>G	Pyruvate dehydrogenase E1-alpha deficiency [RCV002063901]\|not specified [RCV000599835]	benign\|likely benign	X	19349920	19349920	Human	1	name
13609251	CV534786	single nucleotide variant	NM_000284.4(PDHA1):c.759+26G>A	Pyruvate dehydrogenase E1-alpha deficiency [RCV000640505]	uncertain significance	X	19355530	19355530	Human	1	name
15131131	CV745466	single nucleotide variant	NM_000284.4(PDHA1):c.759+10C>G	Pyruvate dehydrogenase E1-alpha deficiency [RCV000897720]\|Pyruvate dehydrogenase complex deficiency [RCV001825807]	benign\|likely benign	X	19355514	19355514	Human	3	name
28887396	CV903467	single nucleotide variant	NM_000284.4(PDHA1):c.291+12G>A	Pyruvate dehydrogenase E1-alpha deficiency [RCV001169327]	benign	X	19350122	19350122	Human	1	name
8639696	CV98678	single nucleotide variant	NM_000284.4(PDHA1):c.760-15C>A	Pyruvate dehydrogenase E1-alpha deficiency [RCV001166389]\|not provided [RCV004713192]\|not specified [RCV000078558]	benign	X	19355671	19355671	Human	1	name
150332345	CV1169945	single nucleotide variant	NM_000284.4(PDHA1):c.292-304T>A	not provided [RCV001536837]	likely benign	X	19350977	19350977	Human		name
150407944	CV1178708	single nucleotide variant	NM_000284.4(PDHA1):c.900-265T>C	not provided [RCV001545735]	likely benign	X	19358651	19358651	Human		name
150412849	CV1192475	single nucleotide variant	NM_000284.4(PDHA1):c.832-118A>G	not provided [RCV001567033]	likely benign	X	19357534	19357534	Human		name
150419936	CV1195738	single nucleotide variant	NM_000284.4(PDHA1):c.57+2160G>A	not provided [RCV001569898]	likely benign	X	19346254	19346254	Human		name
150466264	CV1201216	single nucleotide variant	NM_000284.4(PDHA1):c.900-283G>A	not provided [RCV001587696]	likely benign	X	19358633	19358633	Human		name
150470977	CV1209444	single nucleotide variant	NM_000284.4(PDHA1):c.900-163C>T	not provided [RCV001588555]	likely benign	X	19358753	19358753	Human		name
150485040	CV1222621	single nucleotide variant	NM_000284.4(PDHA1):c.57+2432C>T	not provided [RCV001617624]	benign	X	19346526	19346526	Human		name
150430796	CV1231053	single nucleotide variant	NM_000284.4(PDHA1):c.831+211C>T	not provided [RCV001641602]	benign	X	19355968	19355968	Human		name
150441777	CV1233597	single nucleotide variant	NM_000284.4(PDHA1):c.57+2591A>G	not provided [RCV001645285]	benign	X	19346685	19346685	Human		name
150494116	CV1257694	single nucleotide variant	NM_000284.4(PDHA1):c.58-2558T>A	not provided [RCV001675367]	benign	X	19346754	19346754	Human		name
150471794	CV1259186	single nucleotide variant	NM_000284.4(PDHA1):c.900-339C>T	not provided [RCV001684431]	benign	X	19358577	19358577	Human		name
150499479	CV1282771	single nucleotide variant	NM_000284.4(PDHA1):c.1008+51C>T	not provided [RCV001718198]	benign	X	19359075	19359075	Human		name
155797198	CV1863216	single nucleotide variant	NM_000284.4(PDHA1):c.57+2505C>G	Pyruvate dehydrogenase E1-alpha deficiency [RCV002470490]	uncertain significance	X	19346599	19346599	Human	1	name
155935137	CV2035367	single nucleotide variant	NM_000284.4(PDHA1):c.1008+18T>C	Pyruvate dehydrogenase E1-alpha deficiency [RCV002751398]	likely benign	X	19359042	19359042	Human	1	name
156262760	CV2169977	single nucleotide variant	NM_000284.4(PDHA1):c.1008+17A>G	Pyruvate dehydrogenase E1-alpha deficiency [RCV003026713]	likely benign	X	19359041	19359041	Human	1	name
8561992	CV25930	duplication	NM_000284.4(PDHA1):c.79_90dup	Pyruvate dehydrogenase E1-alpha deficiency [RCV000011638]	pathogenic	X	19359731	19359732	Human	1	name
401931180	CV2821313	single nucleotide variant	NM_000284.4(PDHA1):c.57+1658C>G	not provided [RCV003441112]	likely benign	X	19345752	19345752	Human		name
404980230	CV2893538	single nucleotide variant	NM_000284.4(PDHA1):c.1009-14T>C	Pyruvate dehydrogenase E1-alpha deficiency [RCV003511369]	likely benign	X	19359475	19359475	Human	1	name
402511215	CV2919996	single nucleotide variant	NM_000284.4(PDHA1):c.1009-18C>A	Pyruvate dehydrogenase E1-alpha deficiency [RCV003509972]	likely benign	X	19359471	19359471	Human	1	name
405168282	CV2943216	single nucleotide variant	NM_000284.4(PDHA1):c.1009-11C>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV003621733]	likely benign	X	19359478	19359478	Human	1	name
405172581	CV3076197	single nucleotide variant	NM_000284.4(PDHA1):c.1009-16G>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV003622263]	likely benign	X	19359473	19359473	Human	1	name
405203797	CV3165257	single nucleotide variant	NM_000284.4(PDHA1):c.1009-16G>A	Pyruvate dehydrogenase E1-alpha deficiency [RCV003861118]	likely benign	X	19359473	19359473	Human	1	name
12848961	CV364029	single nucleotide variant	NM_000284.4(PDHA1):c.57+2482G>A	not provided [RCV000421566]\|not specified [RCV000483743]	benign	X	19346576	19346576	Human		name
597830262	CV3742962	single nucleotide variant	NM_000284.4(PDHA1):c.1009-18C>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV005061970]	benign	X	19359471	19359471	Human	1	name
597924094	CV3863048	single nucleotide variant	NM_000284.4(PDHA1):c.1008+16C>T	Pyruvate dehydrogenase E1-alpha deficiency [RCV005205536]	likely benign	X	19359040	19359040	Human	1	name
598128445	CV3887649	single nucleotide variant	NM_000284.4(PDHA1):c.57+2414A>G	not provided [RCV005243823]	uncertain significance	X	19346508	19346508	Human		name
12900985	CV411242	deletion	NM_000284.4(PDHA1):c.10_12del	Pyruvate dehydrogenase E1-alpha deficiency [RCV003139684]\|not specified [RCV000483624]	likely benign\|uncertain significance	X	19359661	19359663	Human	1	name
13462288	CV438597	microsatellite	NM_000284.4(PDHA1):c.*1193CA[1]	not provided [RCV000513956]	likely benign	X	19360845	19360846	Human		name
13462915	CV438665	duplication	NM_000284.4(PDHA1):c.57+2410dup	not provided [RCV000515065]	pathogenic\|likely benign	X	19346494	19346495	Human		name
14690490	CV621879	single nucleotide variant	NM_000284.4(PDHA1):c.1009-23T>C	not provided [RCV001692287]\|not specified [RCV000780583]	benign	X	19359466	19359466	Human		name
14725542	CV669914	single nucleotide variant	NM_000284.4(PDHA1):c.510+187C>T	not provided [RCV000833483]	likely benign	X	19353360	19353360	Human		name
14745613	CV670763	single nucleotide variant	NM_000284.4(PDHA1):c.510+236G>T	not provided [RCV000843560]	benign	X	19353409	19353409	Human		name
14724551	CV670766	single nucleotide variant	NM_000284.4(PDHA1):c.832-211A>G	not provided [RCV000833035]	benign	X	19357441	19357441	Human		name
14745614	CV670880	single nucleotide variant	NM_000284.4(PDHA1):c.511-178G>C	not provided [RCV000843561]	benign	X	19354313	19354313	Human		name
14745611	CV671102	single nucleotide variant	NM_000284.4(PDHA1):c.419-249T>C	not provided [RCV000843558]	benign	X	19352833	19352833	Human		name
38466220	CV920443	single nucleotide variant	NM_000284.4(PDHA1):c.57+2531T>C	Pyruvate dehydrogenase E1-alpha deficiency [RCV001198456]	likely pathogenic	X	19346625	19346625	Human	1	name
14745619	CV670768	single nucleotide variant	NM_000284.4(PDHA1):c.1009-211T>C	not provided [RCV000843566]	benign	X	19359278	19359278	Human		name
150414234	CV1192476	duplication	NM_000284.4(PDHA1):c.900-1_902dup	not provided [RCV001567451]	pathogenic	X	19358912	19358913	Human		name
150473444	CV1217629	deletion	NM_000284.4(PDHA1):c.291_297del	not provided [RCV001615640]	benign	X	19359942	19359948	Human		name
329350480	CV2472958	deletion	NM_000284.4(PDHA1):c.1011_1034del	Pyruvate dehydrogenase E1-alpha deficiency [RCV005208204]\|not provided [RCV003218941]	pathogenic\|likely pathogenic	X	19359487	19359510	Human	1	name
8561986	CV25916	duplication	NM_000284.4(PDHA1):c.900-3_917dup	Pyruvate dehydrogenase E1-alpha deficiency [RCV000011624]	pathogenic	X	19358911	19358912	Human	1	name
150544020	CV1304591	duplication	NM_000284.4(PDHA1):c.981_1008+6dup	not provided [RCV001771561]	uncertain significance	X	19358992	19358993	Human		name
402467029	CV2996974	duplication	NM_000284.4(PDHA1):c.900-12_936dup	Pyruvate dehydrogenase E1-alpha deficiency [RCV003623067]	uncertain significance	X	19358902	19358903	Human	1	name
152167339	CV1557895	duplication	NM_000284.4(PDHA1):c.511-6_511-3dup	Pyruvate dehydrogenase E1-alpha deficiency [RCV002182144]	likely benign	X	19354484	19354485	Human	1	name
156393380	CV2019129	duplication	NM_000284.4(PDHA1):c.832-7_832-4dup	Pyruvate dehydrogenase E1-alpha deficiency [RCV002725274]	likely benign	X	19357643	19357644	Human	1	name
402513467	CV2918128	duplication	NM_000284.4(PDHA1):c.760-8_760-5dup	Pyruvate dehydrogenase E1-alpha deficiency [RCV003510144]	likely benign	X	19355677	19355678	Human	1	name
405201175	CV3143523	deletion	NM_000284.4(PDHA1):c.832-9_832-8del	Pyruvate dehydrogenase E1-alpha deficiency [RCV003844509]	likely benign	X	19357642	19357643	Human	1	name
405290944	CV3197198	duplication	NM_000284.4(PDHA1):c.1089_1092dup	PDHA1-related disorder [RCV003984761]	likely benign	X	19360739	19360740	Human		name , trait , alternate_id
596920949	CV3534344	duplication	NM_000284.4(PDHA1):c.960_1008+33dup	not specified [RCV004783563]	uncertain significance	X	19358974	19358975	Human		name
597890794	CV3839799	duplication	NM_000284.4(PDHA1):c.1009-6_1017dup	Pyruvate dehydrogenase E1-alpha deficiency [RCV005179691]	uncertain significance	X	19359480	19359481	Human	1	name
14352896	CV590462	duplication	NM_000284.4(PDHA1):c.291+1_418+1dup	Pyruvate dehydrogenase E1-alpha deficiency [RCV000735827]	likely pathogenic	X	19350109	19350110	Human	1	name
38466141	CV920444	duplication	NM_000284.4(PDHA1):c.998_1008+20dup	Pyruvate dehydrogenase E1-alpha deficiency [RCV001197847]	uncertain significance	X	19359010	19359011	Human	1	name
127254257	CV1086512	single nucleotide variant	NM_000284.4(PDHA1):c.21C>T (p.Ala7=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001400765]	likely benign	X	19344058	19344058	Human	1	name
127294579	CV1159521	microsatellite	NM_000284.4(PDHA1):c.759+26GGCCAA[2]	Pyruvate dehydrogenase E1-alpha deficiency [RCV001511821]\|Pyruvate dehydrogenase complex deficiency [RCV001826358]\|not provided [RCV001673077]	benign	X	19355530	19355535	Human		name
152066854	CV1566677	single nucleotide variant	NM_000284.4(PDHA1):c.18C>T (p.Ala6=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002091034]	likely benign	X	19344055	19344055	Human	1	name
152096035	CV1661846	single nucleotide variant	NM_000284.4(PDHA1):c.15C>T (p.Leu5=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002172463]	likely benign	X	19344052	19344052	Human	1	name
152978240	CV1671454	deletion	NM_000284.4(PDHA1):c.1009-16_1010del	Pyruvate dehydrogenase E1-alpha deficiency [RCV002227413]	pathogenic	X	19359473	19359490	Human	1	name
156384908	CV1883623	duplication	NM_000284.4(PDHA1):c.760-12_760-9dup	Pyruvate dehydrogenase E1-alpha deficiency [RCV003093593]	likely benign	X	19355672	19355673	Human	1	name
155982935	CV2101063	single nucleotide variant	NM_000284.4(PDHA1):c.21C>G (p.Ala7=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002882022]	likely benign	X	19344058	19344058	Human	1	name
404980336	CV2890117	microsatellite	NM_000284.4(PDHA1):c.759+18GGGGCC[3]	Pyruvate dehydrogenase E1-alpha deficiency [RCV003511389]	benign	X	19355521	19355522	Human		name
402469411	CV3050044	microsatellite	NM_000284.4(PDHA1):c.759+26GGCCAA[5]	Pyruvate dehydrogenase E1-alpha deficiency [RCV003623701]	likely benign	X	19355529	19355530	Human		name
598125658	CV3885659	duplication	NM_000284.4(PDHA1):c.1009-46_1030dup	not specified [RCV005241172]	uncertain significance	X	19359441	19359442	Human		name
12900599	CV411239	microsatellite	NM_000284.4(PDHA1):c.759+26GGCCAA[4]	Pyruvate dehydrogenase E1-alpha deficiency [RCV002063707]\|not provided [RCV001548027]\|not specified [RCV000482729]	benign\|likely benign\|no classifications from unflagged records	X	19355529	19355530	Human		name
14690488	CV621880	duplication	NM_000284.4(PDHA1):c.1009-22_1057dup	not specified [RCV000780582]	uncertain significance	X	19359466	19359467	Human		name
127268215	CV1086513	single nucleotide variant	NM_000284.4(PDHA1):c.30C>T (p.Arg10=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001404340]	likely benign	X	19344067	19344067	Human	1	name
150413360	CV1178709	duplication	NM_000284.4(PDHA1):c.900-85_900-67dup	not provided [RCV001547764]	likely benign	X	19358828	19358829	Human		name
152050202	CV1585687	single nucleotide variant	NM_000284.4(PDHA1):c.42C>T (p.Gly14=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002145591]	likely benign	X	19344079	19344079	Human	1	name
152097768	CV1611592	single nucleotide variant	NM_000284.4(PDHA1):c.54G>A (p.Lys18=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002172695]	likely benign	X	19344091	19344091	Human	1	name
152147285	CV1649721	duplication	NM_000284.4(PDHA1):c.1008+6_1008+9dup	Pyruvate dehydrogenase E1-alpha deficiency [RCV002121245]	likely benign	X	19359027	19359028	Human	1	name
152159370	CV1649763	microsatellite	NM_000284.4(PDHA1):c.759+34_759+45del	Pyruvate dehydrogenase E1-alpha deficiency [RCV002159360]	benign	X	19355530	19355541	Human		name
156408540	CV1870125	duplication	NM_000284.4(PDHA1):c.1009-9_1009-6dup	Pyruvate dehydrogenase E1-alpha deficiency [RCV003071309]	likely benign	X	19359478	19359479	Human	1	name
156118741	CV1923850	deletion	NM_000284.4(PDHA1):c.760-14_760-13del	Pyruvate dehydrogenase E1-alpha deficiency [RCV002640225]	benign	X	19355672	19355673	Human	1	name
402464073	CV3076609	duplication	NM_000284.4(PDHA1):c.900-18_900-14dup	Pyruvate dehydrogenase E1-alpha deficiency [RCV003622294]	benign	X	19358896	19358897	Human	1	name
405110653	CV3136900	duplication	NM_000284.4(PDHA1):c.900-18_900-15dup	Pyruvate dehydrogenase E1-alpha deficiency [RCV003836054]	likely benign	X	19358896	19358897	Human	1	name
405293676	CV3214386	microsatellite	NM_000284.4(PDHA1):c.*83AATGAAATTC[1]	PDHA1-related disorder [RCV003932074]	likely benign	X	19359734	19359743	Human		name , trait , alternate_id
28887389	CV902945	single nucleotide variant	NM_000284.4(PDHA1):c.69G>A (p.Val23=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001169326]	benign\|likely benign	X	19349323	19349323	Human	1	name
40889571	CV972705	single nucleotide variant	NM_000284.4(PDHA1):c.5G>C (p.Arg2Thr)	Neurodevelopmental abnormality [RCV001264665]	likely benign	X	19344042	19344042	Human	2	name
127246194	CV1086516	deletion	NM_000284.4(PDHA1):c.1009-31_1009-7del	Pyruvate dehydrogenase E1-alpha deficiency [RCV001416698]	likely benign	X	19359457	19359481	Human	1	name
127232709	CV1108225	single nucleotide variant	NM_000284.4(PDHA1):c.192C>T (p.Tyr64=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001421415]	likely benign	X	19350011	19350011	Human	1	name
127290926	CV1129593	single nucleotide variant	NM_000284.4(PDHA1):c.186C>T (p.Leu62=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001458562]	likely benign	X	19350005	19350005	Human	1	name
127292555	CV1129594	single nucleotide variant	NM_000284.4(PDHA1):c.270C>T (p.Phe90=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001458979]	likely benign	X	19350089	19350089	Human	1	name
127318773	CV1159515	single nucleotide variant	NM_000284.4(PDHA1):c.217C>A (p.Arg73=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001521809]	benign	X	19350036	19350036	Human	1	name
151348934	CV1324279	deletion	NM_000284.4(PDHA1):c.46del (p.Ser16fs)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001808196]	likely pathogenic	X	19344082	19344082	Human	1	name
152166557	CV1532854	duplication	NM_000284.4(PDHA1):c.1008+6_1008+14dup	Pyruvate dehydrogenase E1-alpha deficiency [RCV002204471]	likely benign	X	19359029	19359030	Human	1	name
152036385	CV1553250	deletion	NM_000284.4(PDHA1):c.1009-28_1009-8del	Pyruvate dehydrogenase E1-alpha deficiency [RCV002187570]	likely benign	X	19359459	19359479	Human	1	name
152172081	CV1575718	single nucleotide variant	NM_000284.4(PDHA1):c.225G>A (p.Glu75=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002183722]	likely benign	X	19350044	19350044	Human	1	name
152081765	CV1589464	duplication	NM_000284.4(PDHA1):c.1008+6_1008+28dup	Pyruvate dehydrogenase E1-alpha deficiency [RCV002112850]	likely benign	X	19359028	19359029	Human	1	name
152105515	CV1622917	duplication	NM_000284.4(PDHA1):c.1008+9_1008+17dup	Pyruvate dehydrogenase E1-alpha deficiency [RCV002214752]	likely benign	X	19359032	19359033	Human	1	name
155970252	CV2079174	duplication	NM_000284.4(PDHA1):c.1008+9_1008+18dup	Pyruvate dehydrogenase E1-alpha deficiency [RCV002881452]	likely benign	X	19359032	19359033	Human	1	name
156134658	CV2097296	single nucleotide variant	NM_000284.4(PDHA1):c.294A>G (p.Glu98=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002890080]	likely benign	X	19351283	19351283	Human	1	name
10410314	CV212018	deletion	NM_000284.4(PDHA1):c.1008+1_1008+27del	not provided [RCV000197927]	pathogenic\|likely pathogenic	X	19359024	19359050	Human		name
156167732	CV2169719	single nucleotide variant	NM_000284.4(PDHA1):c.196A>C (p.Arg66=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003023419]	likely benign	X	19350015	19350015	Human	1	name
156188287	CV2328571	single nucleotide variant	NM_000284.4(PDHA1):c.22G>A (p.Val8Ile)	Inborn genetic diseases [RCV002930828]	uncertain significance	X	19344059	19344059	Human	1	name
405137536	CV3115761	duplication	NM_000284.4(PDHA1):c.1009-12_1009-9dup	Pyruvate dehydrogenase E1-alpha deficiency [RCV003816418]	likely benign	X	19359474	19359475	Human	1	name
405118525	CV3131034	single nucleotide variant	NM_000284.4(PDHA1):c.105A>G (p.Thr35=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003837090]	likely benign	X	19349359	19349359	Human	1	name
597934744	CV3858836	single nucleotide variant	NM_000284.4(PDHA1):c.135G>A (p.Arg45=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV005207306]	likely benign	X	19349954	19349954	Human	1	name
13538519	CV508135	single nucleotide variant	NM_000284.4(PDHA1):c.147C>T (p.Gly49=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002528762]\|not specified [RCV000611954]	likely benign	X	19349966	19349966	Human	1	name
13528431	CV508641	single nucleotide variant	NM_000284.4(PDHA1):c.252G>A (p.Gln84=)	Inborn genetic diseases [RCV002431827]\|Pyruvate dehydrogenase E1-alpha deficiency [RCV000939917]\|not provided [RCV001698061]	benign\|likely benign	X	19350071	19350071	Human	2	name
15117857	CV786774	single nucleotide variant	NM_000284.4(PDHA1):c.162A>C (p.Thr54=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001460518]	likely benign	X	19349981	19349981	Human	1	name
15102987	CV786775	single nucleotide variant	NM_000284.4(PDHA1):c.240G>A (p.Gln80=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001398487]	likely benign	X	19350059	19350059	Human	1	name
21073350	CV792201	single nucleotide variant	NM_000284.4(PDHA1):c.16G>A (p.Ala6Thr)	Inborn genetic diseases [RCV004030119]\|Pyruvate dehydrogenase E1-alpha deficiency [RCV000990497]	likely benign\|conflicting interpretations of pathogenicity	X	19344053	19344053	Human	2	name
127271318	CV1086514	single nucleotide variant	NM_000284.4(PDHA1):c.375C>T (p.Phe125=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001405310]	likely benign	X	19351364	19351364	Human	1	name
127230835	CV1086515	single nucleotide variant	NM_000284.4(PDHA1):c.810T>G (p.Ala270=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001412752]	likely benign	X	19355736	19355736	Human	1	name
127282047	CV1108228	single nucleotide variant	NM_000284.4(PDHA1):c.672T>C (p.Asn224=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001447588]	likely benign	X	19355417	19355417	Human	1	name
127282673	CV1108229	single nucleotide variant	NM_000284.4(PDHA1):c.693G>T (p.Thr231=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001448030]	likely benign	X	19355438	19355438	Human	1	name
127283981	CV1108230	single nucleotide variant	NM_000284.4(PDHA1):c.708G>C (p.Ala236=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001448901]	likely benign	X	19355453	19355453	Human	1	name
127269073	CV1108231	single nucleotide variant	NM_000284.4(PDHA1):c.756G>C (p.Leu252=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001440973]	likely benign	X	19355501	19355501	Human	1	name
127263688	CV1108233	single nucleotide variant	NM_000284.4(PDHA1):c.828G>A (p.Gly276=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001439357]	likely benign	X	19355754	19355754	Human	1	name
127232804	CV1108234	single nucleotide variant	NM_000284.4(PDHA1):c.891T>C (p.Pro297=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001421451]	likely benign	X	19357711	19357711	Human	1	name
127252622	CV1108235	single nucleotide variant	NM_000284.4(PDHA1):c.948T>A (p.Pro316=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001436849]	likely benign	X	19358964	19358964	Human	1	name
127305998	CV1129595	single nucleotide variant	NM_000284.4(PDHA1):c.330C>T (p.Pro110=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001455375]	likely benign	X	19351319	19351319	Human	1	name
127293826	CV1129596	single nucleotide variant	NM_000284.4(PDHA1):c.333A>G (p.Thr111=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001476670]	likely benign	X	19351322	19351322	Human	1	name
127297502	CV1129597	single nucleotide variant	NM_000284.4(PDHA1):c.345C>T (p.Ile115=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001460261]	likely benign	X	19351334	19351334	Human	1	name
127289593	CV1129599	single nucleotide variant	NM_000284.4(PDHA1):c.435T>C (p.Cys145=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001450948]	likely benign	X	19353098	19353098	Human	1	name
127290442	CV1129601	single nucleotide variant	NM_000284.4(PDHA1):c.783C>T (p.Cys261=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001451247]	likely benign	X	19355709	19355709	Human	1	name
127296882	CV1129602	single nucleotide variant	NM_000284.4(PDHA1):c.816T>C (p.Tyr272=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001477478]	likely benign	X	19355742	19355742	Human	1	name
127324850	CV1129604	single nucleotide variant	NM_000284.4(PDHA1):c.903C>T (p.Tyr301=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001468296]	likely benign	X	19358919	19358919	Human	1	name
127329222	CV1129605	single nucleotide variant	NM_000284.4(PDHA1):c.978C>T (p.Asn326=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001470041]	likely benign	X	19358994	19358994	Human	1	name
127286434	CV1150643	single nucleotide variant	NM_000284.4(PDHA1):c.732G>A (p.Lys244=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001494188]	likely benign	X	19355477	19355477	Human	1	name
127332280	CV1150644	single nucleotide variant	NM_000284.4(PDHA1):c.867C>T (p.Tyr289=)	PDHA1-related disorder [RCV003956083]\|Pyruvate dehydrogenase E1-alpha deficiency [RCV001489398]	likely benign	X	19357687	19357687	Human	3	name , trait , alternate_id
127298298	CV1159516	single nucleotide variant	NM_000284.4(PDHA1):c.327C>T (p.Asn109=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001513200]	benign	X	19351316	19351316	Human	1	name
127317281	CV1159517	single nucleotide variant	NM_000284.4(PDHA1):c.390C>T (p.Ser130=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001520992]	benign	X	19351379	19351379	Human	1	name
127291863	CV1159519	single nucleotide variant	NM_000284.4(PDHA1):c.708G>A (p.Ala236=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001510579]	benign	X	19355453	19355453	Human	1	name
150413345	CV1178707	single nucleotide variant	NM_000284.4(PDHA1):c.498C>T (p.Ile166=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001824174]\|not provided [RCV001547760]	pathogenic	X	19353161	19353161	Human	1	name
150549750	CV1299633	single nucleotide variant	NM_000284.4(PDHA1):c.31G>A (p.Val11Met)	Inborn genetic diseases [RCV004953044]\|not provided [RCV001752559]	uncertain significance	X	19344068	19344068	Human	1	name
152064999	CV1525898	single nucleotide variant	NM_000284.4(PDHA1):c.873A>T (p.Gly291=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002128848]	likely benign	X	19357693	19357693	Human	1	name
152059333	CV1536072	single nucleotide variant	NM_000284.4(PDHA1):c.663C>T (p.Ile221=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002146590]	likely benign	X	19355408	19355408	Human	1	name
152038900	CV1538201	single nucleotide variant	NM_000284.4(PDHA1):c.558A>G (p.Lys186=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002206039]	likely benign	X	19354538	19354538	Human	1	name
152169755	CV1538696	single nucleotide variant	NM_000284.4(PDHA1):c.336C>T (p.Asp112=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002182911]	likely benign	X	19351325	19351325	Human	1	name
152081725	CV1546804	single nucleotide variant	NM_000284.4(PDHA1):c.729C>T (p.Tyr243=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002130902]	likely benign	X	19355474	19355474	Human	1	name
152040627	CV1553311	single nucleotide variant	NM_000284.4(PDHA1):c.639G>A (p.Leu213=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002087908]	likely benign	X	19355384	19355384	Human	1	name
152160890	CV1555200	single nucleotide variant	NM_000284.4(PDHA1):c.579A>G (p.Leu193=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002103772]	likely benign	X	19354559	19354559	Human	1	name
152134658	CV1576541	duplication	NM_000284.4(PDHA1):c.1009-17_1009-14dup	Pyruvate dehydrogenase E1-alpha deficiency [RCV002119535]	benign	X	19359471	19359472	Human	1	name
152137422	CV1581449	single nucleotide variant	NM_000284.4(PDHA1):c.708G>T (p.Ala236=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002100304]	likely benign	X	19355453	19355453	Human	1	name
152061988	CV1594881	single nucleotide variant	NM_000284.4(PDHA1):c.696T>C (p.Ser232=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002190634]	likely benign	X	19355441	19355441	Human	1	name
152097233	CV1599896	single nucleotide variant	NM_000284.4(PDHA1):c.702G>A (p.Glu234=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002151353]	likely benign	X	19355447	19355447	Human	1	name
152065686	CV1601504	single nucleotide variant	NM_000284.4(PDHA1):c.693G>C (p.Thr231=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002168619]	likely benign	X	19355438	19355438	Human	1	name
152047762	CV1614699	single nucleotide variant	NM_000284.4(PDHA1):c.306G>T (p.Val102=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002071797]	likely benign	X	19351295	19351295	Human	1	name
152034156	CV1621486	single nucleotide variant	NM_000284.4(PDHA1):c.756G>A (p.Leu252=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002205299]	likely benign	X	19355501	19355501	Human	1	name
152130736	CV1635127	single nucleotide variant	NM_000284.4(PDHA1):c.501G>C (p.Val167=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002099451]	likely benign	X	19353164	19353164	Human	1	name
152059744	CV1650291	single nucleotide variant	NM_000284.4(PDHA1):c.699T>C (p.Val233=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002128200]	likely benign	X	19355444	19355444	Human	1	name
152099476	CV1663971	single nucleotide variant	NM_000284.4(PDHA1):c.477C>T (p.Asn159=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002078800]	likely benign	X	19353140	19353140	Human	1	name
155643485	CV1706751	single nucleotide variant	NM_000284.4(PDHA1):c.98A>T (p.Asp33Val)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003101652]\|See cases [RCV002287826]	likely benign\|uncertain significance	X	19349352	19349352	Human	1	name
155716189	CV1780464	single nucleotide variant	NM_000284.4(PDHA1):c.67G>A (p.Val23Met)	not provided [RCV002306069]	uncertain significance	X	19349321	19349321	Human		name
156386538	CV1894127	single nucleotide variant	NM_000284.4(PDHA1):c.615C>T (p.Phe205=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003093734]	likely benign	X	19355360	19355360	Human	1	name
156373253	CV1901872	single nucleotide variant	NM_000284.4(PDHA1):c.300C>T (p.Cys100=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003092642]	likely benign	X	19351289	19351289	Human	1	name
156046492	CV1996606	deletion	NM_000284.4(PDHA1):c.1009-18_1009-10del	Pyruvate dehydrogenase E1-alpha deficiency [RCV002659223]	likely benign	X	19359471	19359479	Human	1	name
156378954	CV2028893	single nucleotide variant	NM_000284.4(PDHA1):c.717C>T (p.Ser239=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002722159]	likely benign	X	19355462	19355462	Human	1	name
156124156	CV2036177	single nucleotide variant	NM_000284.4(PDHA1):c.852G>T (p.Leu284=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002800349]	likely benign	X	19357672	19357672	Human	1	name
156376165	CV2059553	single nucleotide variant	NM_000284.4(PDHA1):c.966C>T (p.Asp322=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002814708]	likely benign	X	19358982	19358982	Human	1	name
156019623	CV2081341	single nucleotide variant	NM_000284.4(PDHA1):c.405C>T (p.Leu135=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002866540]	likely benign	X	19351394	19351394	Human	1	name
10404113	CV208994	single nucleotide variant	NM_000284.4(PDHA1):c.984T>C (p.Asn328=)	Inborn genetic diseases [RCV002381655]\|Pyruvate dehydrogenase E1-alpha deficiency [RCV000899471]\|Pyruvate dehydrogenase complex deficiency [RCV001833137]\|not specified [RCV000194225]	likely benign\|uncertain significance	X	19359000	19359000	Human	4	name
10410373	CV212002	single nucleotide variant	NM_000284.4(PDHA1):c.82C>T (p.Arg28Cys)	Inborn genetic diseases [RCV002515421]\|Pyruvate dehydrogenase complex deficiency [RCV001276605]\|not provided [RCV000198050]	uncertain significance	X	19349336	19349336	Human	3	name
10409190	CV212003	single nucleotide variant	NM_000284.4(PDHA1):c.97G>C (p.Asp33His)	Inborn genetic diseases [RCV002315625]\|PDHA1-related disorder [RCV003947637]\|Pyruvate dehydrogenase E1-alpha deficiency [RCV001088112]\|not provided [RCV000433475]\|not specified [RCV000195613]	benign\|likely benign\|uncertain significance	X	19349351	19349351	Human	4	name , trait , alternate_id
155938767	CV2146480	single nucleotide variant	NM_000284.4(PDHA1):c.567C>G (p.Val189=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003014125]	likely benign	X	19354547	19354547	Human	1	name
155974775	CV2148973	single nucleotide variant	NM_000284.4(PDHA1):c.780G>C (p.Leu260=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003016102]	likely benign	X	19355706	19355706	Human	1	name
156103746	CV2180245	single nucleotide variant	NM_000284.4(PDHA1):c.960C>T (p.Leu320=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003054820]	likely benign	X	19358976	19358976	Human	1	name
243060046	CV2407799	duplication	NM_000284.4(PDHA1):c.195dup (p.Arg66fs)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003135630]	likely pathogenic	X	19350013	19350014	Human	1	name
8598628	CV25926	single nucleotide variant	NM_000284.4(PDHA1):c.29G>C (p.Arg10Pro)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000011634]	pathogenic	X	19344066	19344066	Human	1	name
11642095	CV269240	single nucleotide variant	NM_000284.4(PDHA1):c.507G>A (p.Ala169=)	Inborn genetic diseases [RCV002338844]\|PDHA1-related disorder [RCV003920086]\|Pyruvate dehydrogenase E1-alpha deficiency [RCV001088476]\|Pyruvate dehydrogenase complex deficiency [RCV001835752]\|not provided [RCV000725565]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	19353170	19353170	Human	5	name , trait , alternate_id
401796480	CV2740658	single nucleotide variant	NM_000284.4(PDHA1):c.447A>G (p.Lys149=)	not provided [RCV003321328]	likely pathogenic\|uncertain significance	X	19353110	19353110	Human		name
401914415	CV2830687	single nucleotide variant	NM_000284.4(PDHA1):c.927A>G (p.Glu309=)	not provided [RCV003442425]	uncertain significance	X	19358943	19358943	Human		name
402516953	CV2861902	single nucleotide variant	NM_000284.4(PDHA1):c.321C>T (p.Gly107=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003510489]	likely benign	X	19351310	19351310	Human	1	name
402511761	CV2909973	single nucleotide variant	NM_000284.4(PDHA1):c.552T>C (p.Asn184=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003510043]	likely benign	X	19354532	19354532	Human	1	name
402464755	CV2970402	single nucleotide variant	NM_000284.4(PDHA1):c.516C>T (p.Pro172=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003622488]	likely benign	X	19354496	19354496	Human	1	name
402466297	CV2981809	single nucleotide variant	NM_000284.4(PDHA1):c.47C>T (p.Ser16Phe)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003622757]\|not provided [RCV004765933]	uncertain significance	X	19344084	19344084	Human	1	name
402466330	CV2983812	deletion	NM_000284.4(PDHA1):c.1009-17_1009-12del	Pyruvate dehydrogenase E1-alpha deficiency [RCV003622883]	likely benign	X	19359470	19359475	Human	1	name
402465553	CV2984195	single nucleotide variant	NM_000284.4(PDHA1):c.778C>T (p.Leu260=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003622680]	likely benign	X	19355704	19355704	Human	1	name
402465870	CV2985754	single nucleotide variant	NM_000284.4(PDHA1):c.696T>A (p.Ser232=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003622786]	likely benign	X	19355441	19355441	Human	1	name
402466192	CV2987003	single nucleotide variant	NM_000284.4(PDHA1):c.354C>T (p.Tyr118=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003622873]	likely benign	X	19351343	19351343	Human	1	name
402468051	CV3007668	single nucleotide variant	NM_000284.4(PDHA1):c.681T>C (p.Tyr227=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003623339]	likely benign	X	19355426	19355426	Human	1	name
402468705	CV3030469	single nucleotide variant	NM_000284.4(PDHA1):c.534T>C (p.Ala178=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003623511]	likely benign	X	19354514	19354514	Human	1	name
402469231	CV3039614	single nucleotide variant	NM_000284.4(PDHA1):c.837C>T (p.Pro279=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003623651]	likely benign	X	19357657	19357657	Human	1	name
402469715	CV3054748	deletion	NM_000284.4(PDHA1):c.1009-31_1009-15del	Pyruvate dehydrogenase E1-alpha deficiency [RCV003623784]	benign	X	19359457	19359473	Human	1	name
405172390	CV3070808	duplication	NM_000284.4(PDHA1):c.1009-16_1009-14dup	Pyruvate dehydrogenase E1-alpha deficiency [RCV003622243]	likely benign	X	19359471	19359472	Human	1	name
405041031	CV3141111	single nucleotide variant	NM_000284.4(PDHA1):c.990C>T (p.Ala330=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003831404]	likely benign	X	19359006	19359006	Human	1	name
405215292	CV3143167	single nucleotide variant	NM_000284.4(PDHA1):c.645A>G (p.Lys215=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003846330]	likely benign	X	19355390	19355390	Human	1	name
596941890	CV3543904	single nucleotide variant	NM_000284.4(PDHA1):c.462C>T (p.His154=)	not specified [RCV004799894]	likely benign	X	19353125	19353125	Human		name
12741914	CV361087	single nucleotide variant	NM_000284.4(PDHA1):c.65G>C (p.Arg22Thr)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001196164]\|Seizure [RCV000415390]	uncertain significance	X	19349319	19349319	Human	4	name
597915992	CV3771487	single nucleotide variant	NM_000284.4(PDHA1):c.606C>A (p.Gly202=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV005114418]	likely benign	X	19355351	19355351	Human	1	name
12844350	CV379176	single nucleotide variant	NM_000284.4(PDHA1):c.693G>A (p.Thr231=)	Inborn genetic diseases [RCV002318413]\|Pyruvate dehydrogenase E1-alpha deficiency [RCV000916825]\|Pyruvate dehydrogenase complex deficiency [RCV001828410]\|not provided [RCV003437177]\|not specified [RCV000437837]	benign\|likely benign	X	19355438	19355438	Human	4	name
12837354	CV379177	single nucleotide variant	NM_000284.4(PDHA1):c.798A>G (p.Thr266=)	Inborn genetic diseases [RCV002314156]\|Pyruvate dehydrogenase E1-alpha deficiency [RCV000889181]\|Pyruvate dehydrogenase complex deficiency [RCV001833520]\|not provided [RCV001718860]	benign\|likely benign	X	19355724	19355724	Human	4	name
12835657	CV379182	single nucleotide variant	NM_000284.4(PDHA1):c.861C>T (p.Tyr287=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002521589]\|not specified [RCV000422060]	likely benign	X	19357681	19357681	Human	1	name
597877858	CV3813610	single nucleotide variant	NM_000284.4(PDHA1):c.585C>T (p.Gly195=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV005149352]	uncertain significance	X	19354565	19354565	Human	1	name
597910923	CV3816862	single nucleotide variant	NM_000284.4(PDHA1):c.444G>A (p.Gly148=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV005154259]	likely benign	X	19353107	19353107	Human	1	name
598202097	CV3892933	duplication	NM_000284.4(PDHA1):c.157dup (p.Thr53fs)	Pyruvate dehydrogenase E1-alpha deficiency [RCV005255259]	likely pathogenic	X	19349975	19349976	Human	1	name
13212145	CV426447	single nucleotide variant	NM_000284.4(PDHA1):c.738C>T (p.Gly246=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000995830]\|not provided [RCV000498403]	pathogenic\|likely pathogenic	X	19355483	19355483	Human	1	name
13538272	CV508137	single nucleotide variant	NM_000284.4(PDHA1):c.396A>C (p.Arg132=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001088181]\|not provided [RCV000933377]\|not specified [RCV000611587]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	19351385	19351385	Human	1	name
13541366	CV508139	single nucleotide variant	NM_000284.4(PDHA1):c.456G>A (p.Ser152=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002065288]\|not specified [RCV000616059]	likely benign	X	19353119	19353119	Human	1	name
13526379	CV508511	single nucleotide variant	NM_000284.4(PDHA1):c.363C>T (p.His121=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000929760]\|not provided [RCV001697544]	benign\|likely benign	X	19351352	19351352	Human	1	name
13789736	CV550111	single nucleotide variant	NM_000284.4(PDHA1):c.489C>T (p.Gly163=)	not provided [RCV000676881]	likely benign	X	19353152	19353152	Human		name
15163905	CV729539	single nucleotide variant	NM_000284.4(PDHA1):c.813C>T (p.Ala271=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000882077]	likely benign	X	19355739	19355739	Human	1	name
15174994	CV773951	single nucleotide variant	NM_000284.4(PDHA1):c.318C>T (p.Ala106=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000928569]\|not provided [RCV004704330]	likely benign	X	19351307	19351307	Human	1	name
15200138	CV773952	single nucleotide variant	NM_000284.4(PDHA1):c.411G>A (p.Glu137=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001421195]	likely benign	X	19351400	19351400	Human	1	name
15123142	CV773953	single nucleotide variant	NM_000284.4(PDHA1):c.894A>G (p.Gly298=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001166393]\|Pyruvate dehydrogenase complex deficiency [RCV001826985]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	19357714	19357714	Human	3	name
15136342	CV786776	single nucleotide variant	NM_000284.4(PDHA1):c.657T>C (p.Ile219=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000982094]\|not provided [RCV003883523]	likely benign	X	19355402	19355402	Human	1	name
15109702	CV786777	single nucleotide variant	NM_000284.4(PDHA1):c.765T>C (p.Asp255=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000977290]	likely benign	X	19355691	19355691	Human	1	name
15129946	CV786778	single nucleotide variant	NM_000284.4(PDHA1):c.870C>T (p.His290=)	Inborn genetic diseases [RCV002372696]\|Pyruvate dehydrogenase E1-alpha deficiency [RCV000980963]\|Pyruvate dehydrogenase complex deficiency [RCV001276606]	benign\|likely benign\|uncertain significance	X	19357690	19357690	Human	4	name
26903896	CV858658	single nucleotide variant	NM_000284.4(PDHA1):c.522C>T (p.Gly174=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001090049]	conflicting interpretations of pathogenicity\|uncertain significance	X	19354502	19354502	Human	1	name
28877257	CV902946	single nucleotide variant	NM_000284.4(PDHA1):c.660C>T (p.Phe220=)	Inborn genetic diseases [RCV002365816]\|Pyruvate dehydrogenase E1-alpha deficiency [RCV001166388]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	19355405	19355405	Human	2	name
38466557	CV921008	single nucleotide variant	NM_000284.4(PDHA1):c.807T>C (p.Ala269=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002069294]\|not provided [RCV001200312]	likely benign	X	19355733	19355733	Human	1	name
8639695	CV98677	single nucleotide variant	NM_000284.4(PDHA1):c.483C>T (p.Tyr161=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001218777]\|not provided [RCV000078557]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	X	19353146	19353146	Human	1	name
8639697	CV98679	single nucleotide variant	NM_000284.4(PDHA1):c.795A>G (p.Ala265=)	Inborn genetic diseases [RCV002311553]\|Pyruvate dehydrogenase E1-alpha deficiency [RCV001166390]\|Pyruvate dehydrogenase complex deficiency [RCV001271288]\|not provided [RCV000676882]\|not specified [RCV000078559]	benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters	X	19355721	19355721	Human	4	name
127295461	CV1129592	single nucleotide variant	NM_000284.4(PDHA1):c.126C>G (p.Asp42Glu)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001452517]\|Pyruvate dehydrogenase complex deficiency [RCV001826276]\|not provided [RCV003438805]	likely benign	X	19349945	19349945	Human	3	name
127293950	CV1129606	single nucleotide variant	NM_000284.4(PDHA1):c.1038T>C (p.Ile346=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001459322]	likely benign	X	19359518	19359518	Human	1	name
127288995	CV1150640	single nucleotide variant	NM_000284.4(PDHA1):c.134G>A (p.Arg45Gln)	Inborn genetic diseases [RCV002563299]\|Pyruvate dehydrogenase E1-alpha deficiency [RCV001495486]	likely benign	X	19349953	19349953	Human	2	name
127297007	CV1159523	single nucleotide variant	NM_000284.4(PDHA1):c.1113C>T (p.Ser371=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001512707]\|not provided [RCV003438851]	benign\|likely benign	X	19359593	19359593	Human	1	name
127306144	CV1159524	single nucleotide variant	NM_000284.4(PDHA1):c.1170T>C (p.Ser390=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001516516]	benign	X	19359650	19359650	Human	1	name
150420283	CV1182088	microsatellite	NM_000284.4(PDHA1):c.1008+117ATAGTTCC[4]	not provided [RCV001551468]	likely benign	X	19359140	19359141	Human		name
150548050	CV1304986	single nucleotide variant	NM_000284.4(PDHA1):c.263G>A (p.Arg88His)	Inborn genetic diseases [RCV004953059]\|not provided [RCV001764108]\|not specified [RCV005409006]	uncertain significance	X	19350082	19350082	Human	1	name
151727990	CV1517459	single nucleotide variant	NM_000284.4(PDHA1):c.231A>T (p.Lys77Asn)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002052075]	uncertain significance	X	19350050	19350050	Human	1	name
152046259	CV1526965	single nucleotide variant	NM_000284.4(PDHA1):c.1050C>T (p.Ala350=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002166306]	likely benign	X	19359530	19359530	Human	1	name
152159496	CV1544412	single nucleotide variant	NM_000284.4(PDHA1):c.1065C>T (p.Ala355=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002122937]	benign	X	19359545	19359545	Human	1	name
152150708	CV1559528	single nucleotide variant	NM_000284.4(PDHA1):c.139G>A (p.Glu47Lys)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002220768]	likely benign	X	19349958	19349958	Human	1	name
152138723	CV1570953	single nucleotide variant	NM_000284.4(PDHA1):c.1083G>A (p.Leu361=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002120060]	likely benign	X	19359563	19359563	Human	1	name
155685911	CV1771083	single nucleotide variant	NM_000284.4(PDHA1):c.239A>C (p.Gln80Pro)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002298962]	uncertain significance	X	19350058	19350058	Human	1	name
155798759	CV1862141	single nucleotide variant	NM_000284.4(PDHA1):c.194A>C (p.Tyr65Ser)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002471544]	uncertain significance	X	19350013	19350013	Human	1	name
156191160	CV1904051	single nucleotide variant	NM_000284.4(PDHA1):c.133C>T (p.Arg45Trp)	Inborn genetic diseases [RCV004073343]\|Pyruvate dehydrogenase E1-alpha deficiency [RCV002574416]	uncertain significance	X	19349952	19349952	Human	2	name
10409496	CV212004	single nucleotide variant	NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys)	Abnormality of the mitochondrion [RCV001814100]\|Inborn genetic diseases [RCV000624128]\|Pyruvate dehydrogenase E1-alpha deficiency [RCV000692713]\|Pyruvate dehydrogenase complex deficiency [RCV001796727]\|not provided [RCV000505722]	pathogenic\|likely pathogenic	X	19350033	19350033	Human	6	name
243059310	CV2405944	single nucleotide variant	NM_000284.4(PDHA1):c.118A>G (p.Lys40Glu)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003134782]	uncertain significance	X	19349937	19349937	Human	1	name
243059311	CV2405945	single nucleotide variant	NM_000284.4(PDHA1):c.250C>A (p.Gln84Lys)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003134783]	uncertain significance	X	19350069	19350069	Human	1	name
11633561	CV264828	duplication	NM_000284.4(PDHA1):c.954dup (p.Leu319fs)	not provided [RCV000350025]	pathogenic	X	19358969	19358970	Human		name
401720084	CV2737174	single nucleotide variant	NM_000284.4(PDHA1):c.133C>G (p.Arg45Gly)	not provided [RCV003314113]	uncertain significance	X	19349952	19349952	Human		name
401917498	CV2829888	single nucleotide variant	NM_000284.4(PDHA1):c.262C>T (p.Arg88Cys)	Pyruvate dehydrogenase E1-alpha deficiency [RCV004763690]\|not provided [RCV003443932]	pathogenic	X	19350081	19350081	Human	1	name
402507518	CV2897345	single nucleotide variant	NM_000284.4(PDHA1):c.1026G>A (p.Val342=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003509306]	likely benign	X	19359506	19359506	Human	1	name
402467600	CV3015798	single nucleotide variant	NM_000284.4(PDHA1):c.1065C>A (p.Ala355=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003623217]	likely benign	X	19359545	19359545	Human	1	name
405168548	CV3122331	single nucleotide variant	NM_000284.4(PDHA1):c.211G>A (p.Val71Ile)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003818920]	likely benign	X	19350030	19350030	Human	1	name
405291262	CV3222241	single nucleotide variant	NM_000284.4(PDHA1):c.260T>C (p.Ile87Thr)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003985123]	pathogenic\|likely pathogenic	X	19350079	19350079	Human	1	name
408380571	CV3501628	single nucleotide variant	NM_000284.4(PDHA1):c.217C>T (p.Arg73Ter)	not provided [RCV004729156]	pathogenic	X	19350036	19350036	Human		name
597897179	CV3744562	single nucleotide variant	NM_000284.4(PDHA1):c.1155G>A (p.Lys385=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV005071840]	likely benign	X	19359635	19359635	Human	1	name
13794627	CV552254	single nucleotide variant	NM_000284.4(PDHA1):c.265G>A (p.Gly89Ser)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000680061]	uncertain significance	X	19350084	19350084	Human	1	name
14691574	CV615914	single nucleotide variant	NM_000284.4(PDHA1):c.225G>T (p.Glu75Asp)	Pyruvate dehydrogenase complex deficiency [RCV000770934]	pathogenic	X	19350044	19350044	Human	2	name
15102638	CV773954	single nucleotide variant	NM_000284.4(PDHA1):c.1062G>T (p.Thr354=)	Inborn genetic diseases [RCV002409231]\|Pyruvate dehydrogenase E1-alpha deficiency [RCV000937027]\|Pyruvate dehydrogenase complex deficiency [RCV001826976]	benign\|likely benign	X	19359542	19359542	Human	4	name
15144526	CV773956	single nucleotide variant	NM_000284.4(PDHA1):c.1110C>A (p.Ser370=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000944426]	likely benign	X	19359590	19359590	Human	1	name
28880121	CV860826	duplication	NM_000284.4(PDHA1):c.624dup (p.Asn209fs)	not provided [RCV001091317]	likely pathogenic	X	19355368	19355369	Human		name
38466564	CV921009	single nucleotide variant	NM_000284.4(PDHA1):c.1146G>A (p.Gln382=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001476219]\|not provided [RCV001200313]	likely benign	X	19359626	19359626	Human	1	name
126741742	CV1018963	single nucleotide variant	NM_000284.4(PDHA1):c.821G>C (p.Arg274Thr)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001329772]	uncertain significance	X	19355747	19355747	Human	1	name
126921964	CV1052378	single nucleotide variant	NM_000284.4(PDHA1):c.536T>C (p.Leu179Pro)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001364108]	uncertain significance	X	19354516	19354516	Human	1	name
150338544	CV1174398	single nucleotide variant	NM_000284.4(PDHA1):c.788G>C (p.Arg263Pro)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001542510]\|not provided [RCV002286846]	pathogenic\|uncertain significance	X	19355714	19355714	Human	1	name
150418997	CV1182087	single nucleotide variant	NM_000284.4(PDHA1):c.787C>T (p.Arg263Ter)	Inborn genetic diseases [RCV005385121]\|Pyruvate dehydrogenase E1-alpha deficiency [RCV001638161]\|not provided [RCV001550845]	pathogenic	X	19355713	19355713	Human	2	name
151727835	CV1242018	single nucleotide variant	NM_000284.4(PDHA1):c.728A>G (p.Tyr243Cys)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001844384]	pathogenic	X	19355473	19355473	Human	1	name
150452763	CV1275326	single nucleotide variant	NM_000284.4(PDHA1):c.679T>C (p.Tyr227His)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001706839]	likely pathogenic	X	19355424	19355424	Human	1	name
150530005	CV1293305	single nucleotide variant	NM_000284.4(PDHA1):c.871G>A (p.Gly291Arg)	Inborn genetic diseases [RCV005382169]\|See cases [RCV004584228]\|not provided [RCV001756525]	pathogenic\|likely pathogenic\|uncertain significance	X	19357691	19357691	Human	1	name
150545704	CV1298828	single nucleotide variant	NM_000284.4(PDHA1):c.559G>C (p.Asp187His)	not provided [RCV001763094]	uncertain significance	X	19354539	19354539	Human		name
150549731	CV1299842	single nucleotide variant	NM_000284.4(PDHA1):c.535C>G (p.Leu179Val)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002509694]\|not provided [RCV001765311]	conflicting interpretations of pathogenicity\|uncertain significance	X	19354515	19354515	Human	1	name
150557125	CV1310464	single nucleotide variant	NM_000284.4(PDHA1):c.355C>T (p.Arg119Trp)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001775392]\|not provided [RCV004697139]	pathogenic\|likely pathogenic	X	19351344	19351344	Human	1	name
150557192	CV1310555	single nucleotide variant	NM_000284.4(PDHA1):c.624C>A (p.Tyr208Ter)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001775482]	likely pathogenic	X	19355369	19355369	Human	1	name
150557193	CV1310556	single nucleotide variant	NM_000284.4(PDHA1):c.630G>T (p.Met210Ile)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001775483]	uncertain significance	X	19355375	19355375	Human	1	name
150534660	CV1311516	single nucleotide variant	NM_000284.4(PDHA1):c.499G>C (p.Val167Leu)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001779362]	uncertain significance	X	19353162	19353162	Human	1	name
150543189	CV1315133	single nucleotide variant	NM_000284.4(PDHA1):c.685A>T (p.Met229Leu)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001782589]	likely pathogenic	X	19355430	19355430	Human	1	name
150547555	CV1316081	single nucleotide variant	NM_000284.4(PDHA1):c.868C>T (p.His290Tyr)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001785357]	likely pathogenic	X	19357688	19357688	Human	1	name
152044012	CV1534368	single nucleotide variant	NM_000284.4(PDHA1):c.983A>G (p.Asn328Ser)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002088331]	likely benign	X	19358999	19358999	Human	1	name
153304332	CV1690707	single nucleotide variant	NM_000284.4(PDHA1):c.992G>T (p.Ser331Ile)	not provided [RCV002269751]	uncertain significance	X	19359008	19359008	Human		name
153349847	CV1693178	single nucleotide variant	NM_000284.4(PDHA1):c.548A>G (p.Tyr183Cys)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002295376]\|not provided [RCV002276278]	uncertain significance	X	19354528	19354528	Human	1	name
155731440	CV1780976	single nucleotide variant	NM_000284.4(PDHA1):c.425A>C (p.Lys142Thr)	not provided [RCV002308764]	uncertain significance	X	19353088	19353088	Human		name
155744086	CV1803312	single nucleotide variant	NM_000284.4(PDHA1):c.564G>T (p.Glu188Asp)	Inborn genetic diseases [RCV002345188]\|not provided [RCV003992631]	likely benign\|uncertain significance	X	19354544	19354544	Human	1	name
155796924	CV1859177	single nucleotide variant	NM_000284.4(PDHA1):c.517C>G (p.Leu173Val)	not provided [RCV002464805]	uncertain significance	X	19354497	19354497	Human		name
155794824	CV1861047	single nucleotide variant	NM_000284.4(PDHA1):c.640T>G (p.Trp214Gly)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002468760]	likely pathogenic	X	19355385	19355385	Human	1	name
155796178	CV1861685	single nucleotide variant	NM_000284.4(PDHA1):c.692C>T (p.Thr231Met)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003621670]\|not specified [RCV002469966]	likely pathogenic\|uncertain significance	X	19355437	19355437	Human	1	name
155798407	CV1861987	single nucleotide variant	NM_000284.4(PDHA1):c.518T>C (p.Leu173Pro)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002471390]	likely pathogenic	X	19354498	19354498	Human	1	name
155797560	CV1863380	single nucleotide variant	NM_000284.4(PDHA1):c.511G>A (p.Val171Met)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002470655]	likely pathogenic	X	19354491	19354491	Human	1	name
156382400	CV1868639	single nucleotide variant	NM_000284.4(PDHA1):c.784G>T (p.Val262Phe)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003050591]	uncertain significance	X	19355710	19355710	Human	1	name
10052074	CV194289	single nucleotide variant	NM_000284.4(PDHA1):c.311T>C (p.Leu104Pro)	not provided [RCV000178069]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	X	19351300	19351300	Human		name
10052959	CV195573	single nucleotide variant	NM_000284.4(PDHA1):c.628A>G (p.Met210Val)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002470795]\|not provided [RCV000179743]	pathogenic\|uncertain significance\|no classifications from unflagged records	X	19355373	19355373	Human	1	name
10056020	CV198647	single nucleotide variant	NM_000284.4(PDHA1):c.422G>A (p.Arg141Gln)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000184034]\|not provided [RCV004589837]	pathogenic\|likely pathogenic	X	19353085	19353085	Human	1	name
10401594	CV205341	single nucleotide variant	NM_000284.4(PDHA1):c.784G>A (p.Val262Ile)	Inborn genetic diseases [RCV000190809]\|PDHA1-related disorder [RCV003937678]\|Pyruvate dehydrogenase E1-alpha deficiency [RCV000960645]\|not provided [RCV001721242]	likely pathogenic\|benign\|likely benign\|uncertain significance	X	19355710	19355710	Human	4	name , trait , alternate_id
156330595	CV2061312	single nucleotide variant	NM_000284.4(PDHA1):c.653G>A (p.Cys218Tyr)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002810656]	pathogenic\|uncertain significance	X	19355398	19355398	Human	1	name
10409777	CV212006	single nucleotide variant	NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001731151]\|not provided [RCV001091314]	pathogenic\|likely pathogenic	X	19351368	19351368	Human	1	name
10411572	CV212007	single nucleotide variant	NM_000284.3(PDHA1):c.451G>A (p.Gly151Arg)	not provided [RCV000200537]	pathogenic	X	19353114	19353114	Human		name
10409839	CV212008	single nucleotide variant	NM_000284.4(PDHA1):c.463A>T (p.Met155Leu)	not provided [RCV000196954]	likely pathogenic\|uncertain significance	X	19353126	19353126	Human		name
10411035	CV212009	single nucleotide variant	NM_000284.4(PDHA1):c.506C>T (p.Ala169Val)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000640506]\|Pyruvate dehydrogenase complex deficiency [RCV001526400]\|not provided [RCV000199416]	pathogenic\|likely pathogenic	X	19353169	19353169	Human	3	name
10410101	CV212011	single nucleotide variant	NM_000284.4(PDHA1):c.707C>A (p.Ala236Glu)	not provided [RCV000197492]	likely pathogenic	X	19355452	19355452	Human		name
10410241	CV212012	single nucleotide variant	NM_000284.4(PDHA1):c.854A>G (p.Gln285Arg)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002515420]\|Pyruvate dehydrogenase complex deficiency [RCV001828028]\|not provided [RCV000197779]	uncertain significance	X	19357674	19357674	Human	3	name
10409717	CV212014	single nucleotide variant	NM_000284.4(PDHA1):c.910C>T (p.Arg304Ter)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000760291]\|Pyruvate dehydrogenase complex deficiency [RCV001753598]\|not provided [RCV000196688]	pathogenic	X	19358926	19358926	Human	3	name
156340925	CV2179812	single nucleotide variant	NM_000284.4(PDHA1):c.734G>C (p.Arg245Thr)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003030280]	uncertain significance	X	19355479	19355479	Human	1	name
156132070	CV2181277	single nucleotide variant	NM_000284.4(PDHA1):c.397G>A (p.Glu133Lys)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003039736]	uncertain significance	X	19351386	19351386	Human	1	name
156030893	CV2182118	single nucleotide variant	NM_000284.4(PDHA1):c.790G>A (p.Glu264Lys)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003036179]\|not provided [RCV003223765]	uncertain significance	X	19355716	19355716	Human	1	name
329400949	CV2445912	single nucleotide variant	NM_000284.4(PDHA1):c.730A>G (p.Lys244Glu)	Inborn genetic diseases [RCV003197952]	uncertain significance	X	19355475	19355475	Human	1	name
329395564	CV2473211	single nucleotide variant	NM_000284.4(PDHA1):c.766G>A (p.Gly256Arg)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003219193]	likely pathogenic\|conflicting interpretations of pathogenicity	X	19355692	19355692	Human	1	name
8561987	CV25917	single nucleotide variant	NM_000284.4(PDHA1):c.787C>G (p.Arg263Gly)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000011625]\|not provided [RCV000196576]	pathogenic	X	19355713	19355713	Human	1	name
8598622	CV25918	single nucleotide variant	NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys)	Inborn genetic diseases [RCV000622696]\|PDHA1-related disorder [RCV003407316]\|Pyruvate dehydrogenase E1-alpha deficiency [RCV000011626]\|not provided [RCV000199671]	pathogenic\|likely pathogenic	X	19358920	19358920	Human	3	name , trait , alternate_id
8598623	CV25920	single nucleotide variant	NM_000284.4(PDHA1):c.773A>C (p.Asp258Ala)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000011628]	pathogenic	X	19355699	19355699	Human	1	name
8598624	CV25921	single nucleotide variant	NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000011629]	pathogenic\|likely pathogenic	X	19355360	19355360	Human	1	name
8598625	CV25922	single nucleotide variant	NM_000284.4(PDHA1):c.727T>A (p.Tyr243Asn)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000011630]	pathogenic	X	19355472	19355472	Human	1	name
8598626	CV25923	single nucleotide variant	NM_000284.4(PDHA1):c.943G>A (p.Asp315Asn)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000011631]\|not provided [RCV001268860]	pathogenic\|likely pathogenic	X	19358959	19358959	Human	1	name
8598627	CV25924	single nucleotide variant	NM_000284.4(PDHA1):c.844A>C (p.Met282Leu)	Inborn genetic diseases [RCV002311510]\|Pyruvate dehydrogenase E1-alpha deficiency [RCV000011632]\|Pyruvate dehydrogenase complex deficiency [RCV001271289]\|not provided [RCV000224670]\|not specified [RCV000127400]	pathogenic\|benign	X	19357664	19357664	Human	4	name
8598629	CV25929	single nucleotide variant	NM_000284.4(PDHA1):c.863G>A (p.Arg288His)	PDHA1-related disorder [RCV004748515]\|Pyruvate dehydrogenase E1-alpha deficiency [RCV000011637]	pathogenic	X	19357683	19357683	Human	3	name , trait , alternate_id
8598630	CV25931	single nucleotide variant	NM_000284.3(PDHA1):c.787C>G (p.Arg263Gly)	X-linked Leigh syndrome [RCV000011639]	pathogenic	X	19355713	19355713	Human		name
8598631	CV25932	single nucleotide variant	NM_000284.4(PDHA1):c.648A>C (p.Leu216Phe)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000011640]	pathogenic	X	19355393	19355393	Human	1	name
11632873	CV265297	single nucleotide variant	NM_000284.4(PDHA1):c.640T>C (p.Trp214Arg)	not provided [RCV000292563]	likely pathogenic	X	19355385	19355385	Human		name
329954010	CV2669351	single nucleotide variant	NM_000284.4(PDHA1):c.643A>G (p.Lys215Glu)	not provided [RCV003231858]	uncertain significance	X	19355388	19355388	Human		name
401798966	CV2742730	single nucleotide variant	NM_000284.4(PDHA1):c.523G>T (p.Ala175Ser)	not provided [RCV003325175]	uncertain significance	X	19354503	19354503	Human		name
401830844	CV2748468	single nucleotide variant	NM_000284.4(PDHA1):c.946C>G (p.Pro316Ala)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003330116]	uncertain significance	X	19358962	19358962	Human	1	name
401860128	CV2751904	single nucleotide variant	NM_000284.4(PDHA1):c.465G>T (p.Met155Ile)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003335786]	likely pathogenic	X	19353128	19353128	Human	1	name
401873044	CV2752007	single nucleotide variant	NM_000284.4(PDHA1):c.616G>A (p.Glu206Lys)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003335884]	pathogenic	X	19355361	19355361	Human	1	name
401856270	CV2752407	single nucleotide variant	NM_000284.4(PDHA1):c.769A>G (p.Met257Val)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003340744]	uncertain significance	X	19355695	19355695	Human	1	name
401909205	CV2803873	single nucleotide variant	NM_000284.4(PDHA1):c.395G>A (p.Arg132Gln)	PDHA1-related disorder [RCV003397797]	uncertain significance	X	19351384	19351384	Human		name , trait , alternate_id
402522358	CV2873163	single nucleotide variant	NM_000284.4(PDHA1):c.788G>A (p.Arg263Gln)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003510915]	pathogenic	X	19355714	19355714	Human	1	name
402503904	CV2901795	single nucleotide variant	NM_000284.4(PDHA1):c.383G>A (p.Gly128Asp)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003509039]	likely pathogenic	X	19351372	19351372	Human	1	name
402503917	CV2901797	single nucleotide variant	NM_000284.4(PDHA1):c.515C>T (p.Pro172Leu)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003509040]	pathogenic	X	19354495	19354495	Human	1	name
402503927	CV2901798	single nucleotide variant	NM_000284.4(PDHA1):c.989C>G (p.Ala330Gly)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003509041]	likely pathogenic	X	19359005	19359005	Human	1	name
402512524	CV2909576	single nucleotide variant	NM_000284.4(PDHA1):c.788G>T (p.Arg263Leu)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003510007]	likely pathogenic	X	19355714	19355714	Human	1	name
402516400	CV2933385	single nucleotide variant	NM_000284.4(PDHA1):c.953T>A (p.Met318Lys)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003510420]	uncertain significance	X	19358969	19358969	Human	1	name
405168987	CV2951187	single nucleotide variant	NM_000284.4(PDHA1):c.613T>C (p.Phe205Leu)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003621954]	pathogenic	X	19355358	19355358	Human	1	name
402464701	CV2956300	single nucleotide variant	NM_000284.4(PDHA1):c.844A>T (p.Met282Leu)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003622474]	likely benign	X	19357664	19357664	Human	1	name
405265259	CV3185550	single nucleotide variant	NM_000284.4(PDHA1):c.796A>G (p.Thr266Ala)	not provided [RCV003886114]	likely benign	X	19355722	19355722	Human		name
405281385	CV3224082	single nucleotide variant	NM_000284.4(PDHA1):c.328C>G (p.Pro110Ala)	not specified [RCV003988463]	uncertain significance	X	19351317	19351317	Human		name
405873347	CV3398509	single nucleotide variant	NM_000284.4(PDHA1):c.643A>T (p.Lys215Ter)	not provided [RCV004576005]	pathogenic	X	19355388	19355388	Human		name
407427629	CV3410774	single nucleotide variant	NM_000284.4(PDHA1):c.689G>C (p.Gly230Ala)	Pyruvate dehydrogenase E1-alpha deficiency [RCV004586421]	uncertain significance	X	19355434	19355434	Human	1	name
407457527	CV3416182	single nucleotide variant	NM_000284.4(PDHA1):c.476A>T (p.Asn159Ile)	not provided [RCV004599060]	likely pathogenic	X	19353139	19353139	Human		name
407490916	CV3416865	microsatellite	NM_000284.4(PDHA1):c.66_67del (p.Arg22fs)	Pyruvate dehydrogenase E1-alpha deficiency [RCV004666693]	pathogenic	X	19349318	19349319	Human		name
407506111	CV3496109	single nucleotide variant	NM_000284.4(PDHA1):c.313G>A (p.Glu105Lys)	not provided [RCV004697949]	likely pathogenic	X	19351302	19351302	Human		name
408365413	CV3499887	single nucleotide variant	NM_000284.4(PDHA1):c.783C>A (p.Cys261Ter)	not provided [RCV004721929]	pathogenic	X	19355709	19355709	Human		name
408372888	CV3502158	single nucleotide variant	NM_000284.4(PDHA1):c.931A>G (p.Arg311Gly)	not provided [RCV004725745]	uncertain significance	X	19358947	19358947	Human		name
408387156	CV3524422	single nucleotide variant	NM_000284.4(PDHA1):c.584G>A (p.Gly195Asp)	not provided [RCV004768296]	uncertain significance	X	19354564	19354564	Human		name
408384235	CV3525869	single nucleotide variant	NM_000284.4(PDHA1):c.677G>A (p.Arg226His)	Pyruvate dehydrogenase complex deficiency [RCV004766779]	likely pathogenic	X	19355422	19355422	Human	2	name
408388002	CV3527309	single nucleotide variant	NM_000284.4(PDHA1):c.526G>A (p.Gly176Arg)	not provided [RCV004773611]	uncertain significance	X	19354506	19354506	Human		name
596931030	CV3529872	single nucleotide variant	NM_000284.4(PDHA1):c.359C>T (p.Ala120Val)	not provided [RCV004780922]	uncertain significance	X	19351348	19351348	Human		name
596921086	CV3534703	single nucleotide variant	NM_000284.4(PDHA1):c.733A>G (p.Arg245Gly)	not provided [RCV004784260]	likely pathogenic	X	19355478	19355478	Human		name
12741760	CV361241	single nucleotide variant	NM_000284.4(PDHA1):c.427G>A (p.Gly143Arg)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000415066]	uncertain significance	X	19353090	19353090	Human	1	name
597656706	CV3729691	single nucleotide variant	NM_000284.4(PDHA1):c.748C>A (p.Pro250Thr)	Pyruvate dehydrogenase E1-alpha deficiency [RCV005041722]	likely pathogenic	X	19355493	19355493	Human	1	name
597962570	CV3791468	single nucleotide variant	NM_000284.4(PDHA1):c.914A>C (p.Glu305Ala)	Pyruvate dehydrogenase E1-alpha deficiency [RCV005139222]	uncertain significance	X	19358930	19358930	Human	1	name
12849298	CV379181	single nucleotide variant	NM_000284.4(PDHA1):c.832G>A (p.Gly278Arg)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001250113]\|not provided [RCV000427505]	pathogenic\|likely pathogenic	X	19357652	19357652	Human	1	name
12842676	CV379278	single nucleotide variant	NM_000284.4(PDHA1):c.999A>C (p.Glu333Asp)	Inborn genetic diseases [RCV002314157]\|PDHA1-related disorder [RCV003950363]\|Pyruvate dehydrogenase E1-alpha deficiency [RCV000883866]\|Pyruvate dehydrogenase complex deficiency [RCV001526401]\|not specified [RCV000434853]	benign\|likely benign	X	19359015	19359015	Human	5	name , trait , alternate_id
598123395	CV3884901	single nucleotide variant	NM_000284.4(PDHA1):c.911G>A (p.Arg304Gln)	not specified [RCV005238510]	uncertain significance	X	19358927	19358927	Human		name
598202090	CV3892934	single nucleotide variant	NM_000284.4(PDHA1):c.490A>G (p.Asn164Asp)	Pyruvate dehydrogenase E1-alpha deficiency [RCV005255260]	likely pathogenic	X	19353153	19353153	Human	1	name
598234048	CV3893633	single nucleotide variant	NM_000284.4(PDHA1):c.947C>T (p.Pro316Leu)	not provided [RCV005256366]	pathogenic	X	19358963	19358963	Human		name
12895460	CV411238	single nucleotide variant	NM_000284.4(PDHA1):c.746T>G (p.Ile249Ser)	not provided [RCV000486536]	likely pathogenic	X	19355491	19355491	Human		name
12894122	CV411240	single nucleotide variant	NM_000284.4(PDHA1):c.905G>A (p.Arg302His)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001216859]\|not provided [RCV000481593]	pathogenic	X	19358921	19358921	Human	1	name
12913972	CV422448	single nucleotide variant	NM_000284.4(PDHA1):c.650C>T (p.Pro217Leu)	not provided [RCV000494486]	pathogenic	X	19355395	19355395	Human		name
13208084	CV424351	single nucleotide variant	NM_000284.4(PDHA1):c.461A>G (p.His154Arg)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000495894]	likely pathogenic	X	19353124	19353124	Human	1	name
13211769	CV426445	single nucleotide variant	NM_000284.4(PDHA1):c.364G>A (p.Gly122Ser)	not provided [RCV000497889]	likely pathogenic	X	19351353	19351353	Human		name
13212200	CV426446	single nucleotide variant	NM_000284.4(PDHA1):c.409G>A (p.Glu137Lys)	not provided [RCV000498478]	likely pathogenic	X	19351398	19351398	Human		name
13211651	CV426448	single nucleotide variant	NM_000284.4(PDHA1):c.754C>G (p.Leu252Val)	not provided [RCV000497732]	likely pathogenic	X	19355499	19355499	Human		name
13463130	CV439032	single nucleotide variant	NM_000284.4(PDHA1):c.406G>A (p.Ala136Thr)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001082627]\|not provided [RCV000513883]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	19351395	19351395	Human	1	name
13509337	CV481436	single nucleotide variant	NM_000284.4(PDHA1):c.455C>T (p.Ser152Leu)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000578270]	likely pathogenic	X	19353118	19353118	Human	1	name
13509343	CV481437	single nucleotide variant	NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000578359]\|Pyruvate dehydrogenase complex deficiency [RCV001824834]\|not provided [RCV001091316]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	X	19353154	19353154	Human	3	name
13509350	CV481438	single nucleotide variant	NM_000284.4(PDHA1):c.536T>G (p.Leu179Arg)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000578439]	likely pathogenic	X	19354516	19354516	Human	1	name
13531965	CV512634	single nucleotide variant	NM_000284.4(PDHA1):c.616G>C (p.Glu206Gln)	Inborn genetic diseases [RCV000623785]	likely pathogenic\|uncertain significance	X	19355361	19355361	Human	1	name
13533042	CV512635	single nucleotide variant	NM_000284.4(PDHA1):c.735A>C (p.Arg245Ser)	Inborn genetic diseases [RCV000624811]	pathogenic	X	19355480	19355480	Human	1	name
13609254	CV535124	single nucleotide variant	NM_000284.4(PDHA1):c.434G>A (p.Cys145Tyr)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000640507]	uncertain significance	X	19353097	19353097	Human	1	name
13794474	CV552255	single nucleotide variant	NM_000284.4(PDHA1):c.482A>G (p.Tyr161Cys)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000679874]\|not provided [RCV003313130]	pathogenic	X	19353145	19353145	Human	1	name
13794630	CV552256	single nucleotide variant	NM_000284.4(PDHA1):c.523G>A (p.Ala175Thr)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000680062]	pathogenic	X	19354503	19354503	Human	1	name
13829095	CV580921	single nucleotide variant	NM_000284.4(PDHA1):c.972G>A (p.Met324Ile)	Inborn genetic diseases [RCV002314515]\|Pyruvate dehydrogenase E1-alpha deficiency [RCV001329774]\|Pyruvate dehydrogenase complex deficiency [RCV001825436]	uncertain significance	X	19358988	19358988	Human	4	name
14395950	CV611939	single nucleotide variant	NM_000284.4(PDHA1):c.642G>A (p.Trp214Ter)	not provided [RCV000760671]	likely pathogenic	X	19355387	19355387	Human		name
14699604	CV624873	single nucleotide variant	NM_000284.4(PDHA1):c.749C>T (p.Pro250Leu)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000789029]	likely pathogenic	X	19355494	19355494	Human	1	name
14744906	CV649923	single nucleotide variant	NM_000284.4(PDHA1):c.319G>A (p.Gly107Ser)	Inborn genetic diseases [RCV005384880]\|Pyruvate dehydrogenase E1-alpha deficiency [RCV000824394]\|Pyruvate dehydrogenase complex deficiency [RCV001271287]	likely benign\|uncertain significance	X	19351308	19351308	Human	4	name
14740751	CV649924	single nucleotide variant	NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000805497]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	X	19355437	19355437	Human	1	name
14742070	CV649925	single nucleotide variant	NM_000284.4(PDHA1):c.707C>T (p.Ala236Val)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000822565]	uncertain significance	X	19355452	19355452	Human	1	name
14717618	CV649926	single nucleotide variant	NM_000284.4(PDHA1):c.839T>G (p.Ile280Ser)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000811945]\|Pyruvate dehydrogenase complex deficiency [RCV001526402]	uncertain significance	X	19357659	19357659	Human	3	name
14978159	CV677311	single nucleotide variant	NM_000284.4(PDHA1):c.907A>G (p.Thr303Ala)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000850376]	uncertain significance	X	19358923	19358923	Human	1	name
21074827	CV798811	single nucleotide variant	NM_000284.4(PDHA1):c.642G>T (p.Trp214Cys)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000995601]	pathogenic	X	19355387	19355387	Human	1	name
25319059	CV816501	single nucleotide variant	NM_000284.4(PDHA1):c.511G>T (p.Val171Leu)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001028058]	uncertain significance	X	19354491	19354491	Human	1	name
26907131	CV849880	single nucleotide variant	NM_000284.4(PDHA1):c.687G>C (p.Met229Ile)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001067311]	pathogenic	X	19355432	19355432	Human	1	name
28880111	CV860825	single nucleotide variant	NM_000284.4(PDHA1):c.380G>A (p.Arg127Gln)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001542509]\|not provided [RCV001091315]	pathogenic	X	19351369	19351369	Human	1	name
38469026	CV939521	single nucleotide variant	NM_000284.4(PDHA1):c.862C>T (p.Arg288Cys)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001204675]	pathogenic\|likely pathogenic	X	19357682	19357682	Human	1	name
38463088	CV951703	single nucleotide variant	NM_000284.4(PDHA1):c.531T>G (p.Ile177Met)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001233682]	uncertain significance	X	19354511	19354511	Human	1	name
40887661	CV974342	single nucleotide variant	NM_000284.4(PDHA1):c.303T>G (p.Cys101Trp)	Inborn genetic diseases [RCV001267261]	uncertain significance	X	19351292	19351292	Human	1	name
40887095	CV974343	single nucleotide variant	NM_000284.4(PDHA1):c.499G>A (p.Val167Met)	Inborn genetic diseases [RCV001266517]\|Neurodevelopmental delay [RCV002274173]\|not provided [RCV001586100]	pathogenic\|likely pathogenic	X	19353162	19353162	Human	2	name
40906240	CV980097	single nucleotide variant	NM_000284.4(PDHA1):c.661A>G (p.Ile221Val)	Pyruvate dehydrogenase complex deficiency [RCV001279593]\|not provided [RCV002473254]	uncertain significance	X	19355406	19355406	Human	2	name
40906241	CV980098	single nucleotide variant	NM_000284.4(PDHA1):c.739G>A (p.Asp247Asn)	Pyruvate dehydrogenase complex deficiency [RCV001279594]\|not provided [RCV001586103]	uncertain significance	X	19355484	19355484	Human	2	name
127294220	CV1159525	deletion	NM_000284.4(PDHA1):c.3_13del (p.Ter391=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001511662]\|not provided [RCV001531136]	benign\|uncertain significance	X	19359652	19359662	Human	1	name
150545773	CV1297580	single nucleotide variant	NM_000284.4(PDHA1):c.1063G>A (p.Ala355Thr)	not provided [RCV001763168]	uncertain significance	X	19359543	19359543	Human		name
150549977	CV1299985	single nucleotide variant	NM_000284.4(PDHA1):c.1069C>G (p.Pro357Ala)	not provided [RCV001765455]	uncertain significance	X	19359549	19359549	Human		name
151882691	CV1381892	single nucleotide variant	NM_000284.4(PDHA1):c.1066G>A (p.Asp356Asn)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001941350]	uncertain significance	X	19359546	19359546	Human	1	name
152982480	CV1677413	single nucleotide variant	NM_000284.4(PDHA1):c.1136G>T (p.Gly379Val)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002249122]	likely pathogenic	X	19359616	19359616	Human	1	name
153305562	CV1687716	single nucleotide variant	NM_000284.4(PDHA1):c.1072G>A (p.Glu358Lys)	not provided [RCV002263537]	likely pathogenic	X	19359552	19359552	Human		name
155797200	CV1863217	single nucleotide variant	NM_000284.4(PDHA1):c.1091T>G (p.Leu364Arg)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002470491]	uncertain significance	X	19359571	19359571	Human	1	name
156380621	CV1899773	single nucleotide variant	NM_000284.4(PDHA1):c.1035G>T (p.Glu345Asp)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003093243]	uncertain significance	X	19359515	19359515	Human	1	name
156106585	CV2038538	single nucleotide variant	NM_000284.4(PDHA1):c.1021G>C (p.Glu341Gln)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002761517]	uncertain significance	X	19359501	19359501	Human	1	name
156012605	CV2042093	single nucleotide variant	NM_000284.4(PDHA1):c.1010A>C (p.Glu337Ala)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002780225]	uncertain significance	X	19359490	19359490	Human	1	name
10410635	CV212019	single nucleotide variant	NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000497402]\|Pyruvate dehydrogenase complex deficiency [RCV001796726]\|SUDDEN INFANT DEATH SYNDROME [RCV001788065]\|not provided [RCV000198575]	pathogenic\|likely pathogenic	X	19359612	19359612	Human	4	name
10411537	CV212020	single nucleotide variant	NM_000284.4(PDHA1):c.1159A>C (p.Lys387Gln)	Inborn genetic diseases [RCV002363013]\|Pyruvate dehydrogenase E1-alpha deficiency [RCV001079335]\|not provided [RCV000200467]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	19359639	19359639	Human	2	name
8598620	CV25912	single nucleotide variant	NM_000284.4(PDHA1):c.1133G>A (p.Arg378His)	Inborn genetic diseases [RCV004955255]\|Pyruvate dehydrogenase E1-alpha deficiency [RCV000011620]\|See cases [RCV002251895]\|not provided [RCV001267918]	pathogenic\|likely pathogenic	X	19359613	19359613	Human	2	name
11639562	CV270013	single nucleotide variant	NM_000284.4(PDHA1):c.1133G>T (p.Arg378Leu)	not provided [RCV000323139]	uncertain significance	X	19359613	19359613	Human		name
401720362	CV2737226	single nucleotide variant	NM_000284.4(PDHA1):c.1043A>T (p.Asp348Val)	not provided [RCV003314165]	uncertain significance	X	19359523	19359523	Human		name
11644165	CV275492	single nucleotide variant	NM_000284.4(PDHA1):c.1045G>A (p.Ala349Thr)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003225059]\|not provided [RCV000407596]	likely pathogenic\|uncertain significance	X	19359525	19359525	Human	1	name
405261880	CV2831239	single nucleotide variant	NM_000284.4(PDHA1):c.1149G>A (p.Trp383Ter)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003885343]	likely pathogenic	X	19359629	19359629	Human	1	name
401905256	CV2831417	single nucleotide variant	NM_000284.4(PDHA1):c.1143T>G (p.Asn381Lys)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003444409]	uncertain significance	X	19359623	19359623	Human	1	name
402503937	CV2901800	single nucleotide variant	NM_000284.4(PDHA1):c.1148G>A (p.Trp383Ter)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003509042]	pathogenic	X	19359628	19359628	Human	1	name
405167430	CV2948067	single nucleotide variant	NM_000284.4(PDHA1):c.1144C>A (p.Gln382Lys)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003621817]	uncertain significance	X	19359624	19359624	Human	1	name
405269913	CV3187538	single nucleotide variant	NM_000284.4(PDHA1):c.1166T>C (p.Val389Ala)	not provided [RCV003887622]	uncertain significance	X	19359646	19359646	Human		name
408365258	CV3500676	single nucleotide variant	NM_000284.4(PDHA1):c.1088A>C (p.Glu363Ala)	Pyruvate dehydrogenase E1-alpha deficiency [RCV004720683]	uncertain significance	X	19359568	19359568	Human	1	name
597713219	CV3578993	single nucleotide variant	NM_000284.4(PDHA1):c.1060A>G (p.Thr354Ala)	Inborn genetic diseases [RCV004959412]	likely benign	X	19359540	19359540	Human	1	name
12849778	CV379183	single nucleotide variant	NM_000284.4(PDHA1):c.1025T>G (p.Val342Gly)	not provided [RCV000435734]	likely pathogenic	X	19359505	19359505	Human		name
598122686	CV3884618	single nucleotide variant	NM_000284.4(PDHA1):c.1094G>C (p.Gly365Ala)	not specified [RCV005237310]	uncertain significance	X	19359574	19359574	Human		name
598209102	CV4007824	single nucleotide variant	NM_000284.4(PDHA1):c.1117C>T (p.Pro373Ser)	Pyruvate dehydrogenase E1-alpha deficiency [RCV005400138]	uncertain significance	X	19359597	19359597	Human	1	name
12913170	CV422449	single nucleotide variant	NM_000284.4(PDHA1):c.1046C>T (p.Ala349Val)	not provided [RCV000493478]	likely pathogenic\|uncertain significance	X	19359526	19359526	Human		name
12913517	CV422450	single nucleotide variant	NM_000284.4(PDHA1):c.1100A>C (p.His367Pro)	not provided [RCV000493915]	pathogenic\|likely pathogenic	X	19359580	19359580	Human		name
14689968	CV621691	single nucleotide variant	NM_000284.4(PDHA1):c.1018G>A (p.Val340Met)	not specified [RCV000780581]	uncertain significance	X	19359498	19359498	Human		name
15178977	CV743274	single nucleotide variant	NM_000284.4(PDHA1):c.1114G>A (p.Asp372Asn)	Inborn genetic diseases [RCV002434203]\|Pyruvate dehydrogenase E1-alpha deficiency [RCV000907000]\|Pyruvate dehydrogenase complex deficiency [RCV001276607]\|not provided [RCV001573190]	benign\|likely benign	X	19359594	19359594	Human	4	name
15201750	CV773955	single nucleotide variant	NM_000284.4(PDHA1):c.1099C>T (p.His367Tyr)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001391829]	likely benign	X	19359579	19359579	Human	1	name
25317186	CV805128	single nucleotide variant	NM_000284.4(PDHA1):c.1060A>C (p.Thr354Pro)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001007886]	likely pathogenic	X	19359540	19359540	Human	1	name
26906400	CV849883	single nucleotide variant	NM_000284.4(PDHA1):c.1031A>G (p.Lys344Arg)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001063202]\|Pyruvate dehydrogenase complex deficiency [RCV001271290]\|not provided [RCV004590074]	uncertain significance	X	19359511	19359511	Human	3	name
40815263	CV971198	single nucleotide variant	NM_000284.4(PDHA1):c.1098C>A (p.Tyr366Ter)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001262561]	likely pathogenic	X	19359578	19359578	Human	1	name
40906242	CV980099	single nucleotide variant	NM_000284.4(PDHA1):c.1142A>G (p.Asn381Ser)	Pyruvate dehydrogenase complex deficiency [RCV001279595]	uncertain significance	X	19359622	19359622	Human	2	name
41408053	CV980747	single nucleotide variant	NM_000284.4(PDHA1):c.1000G>A (p.Glu334Lys)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001871632]	uncertain significance	X	19359016	19359016	Human	1	name
41408104	CV980752	single nucleotide variant	NM_000284.4(PDHA1):c.1100A>T (p.His367Leu)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001281574]	pathogenic	X	19359580	19359580	Human	1	name
150483821	CV1210197	deletion	NM_000284.4(PDHA1):c.1162_*1del (p.Ser388fs)	not provided [RCV001590896]	pathogenic	X	19359637	19359649	Human		name
10410768	CV212015	deletion	NM_000284.4(PDHA1):c.936_939del (p.Ser312fs)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001254096]\|not provided [RCV000198854]	pathogenic\|likely pathogenic	X	19358949	19358952	Human	1	name
10409402	CV212016	duplication	NM_000284.4(PDHA1):c.937_940dup (p.Ser314fs)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001224932]\|not provided [RCV000196049]	pathogenic\|likely pathogenic	X	19358952	19358953	Human	1	name
10411273	CV212017	duplication	NM_000284.4(PDHA1):c.985_998dup (p.Glu333fs)	not provided [RCV000199933]	pathogenic	X	19359000	19359001	Human		name
155919119	CV2148721	duplication	NM_000284.4(PDHA1):c.956_959dup (p.Lys321fs)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002991812]	pathogenic	X	19358971	19358972	Human	1	name
156103152	CV2180200	deletion	NM_000284.4(PDHA1):c.688_700del (p.Gly230fs)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003054798]	pathogenic	X	19355431	19355443	Human	1	name
156327136	CV2219777	deletion	NM_000284.4(PDHA1):c.966_970del (p.Arg323fs)	Inborn genetic diseases [RCV002717545]	pathogenic	X	19358978	19358982	Human	1	name
8561983	CV25911	microsatellite	NM_000284.4(PDHA1):c.934_940del (p.Ser312fs)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000011619]\|not provided [RCV001092567]	pathogenic	X	19358941	19358947	Human		name
12742230	CV360606	duplication	NM_000284.4(PDHA1):c.858_861dup (p.Arg288fs)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001753844]\|not provided [RCV000413173]	pathogenic\|likely pathogenic	X	19357675	19357676	Human	1	name
13509345	CV481439	microsatellite	NM_000284.4(PDHA1):c.930AAG[1] (p.Arg311del)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000578365]\|Pyruvate dehydrogenase complex deficiency [RCV004526707]	pathogenic	X	19358946	19358948	Human		name
13520448	CV495895	deletion	NM_000284.4(PDHA1):c.929_932del (p.Val310fs)	not provided [RCV000598643]	pathogenic	X	19358942	19358945	Human		name
13828856	CV581779	duplication	NM_000284.4(PDHA1):c.300_301dup (p.Cys101fs)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000721984]	likely pathogenic	X	19351288	19351289	Human	1	name
13828857	CV581780	microsatellite	NM_000284.4(PDHA1):c.791_792del (p.Glu264fs)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000721985]	likely pathogenic	X	19355714	19355715	Human		name
21073351	CV792202	duplication	NM_000284.4(PDHA1):c.822_826dup (p.Gly276fs)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000990498]	pathogenic	X	19355746	19355747	Human	1	name
25318476	CV806183	duplication	NM_000284.4(PDHA1):c.724_727dup (p.Tyr243fs)	not provided [RCV001008639]	pathogenic	X	19355467	19355468	Human		name
26901796	CV849881	duplication	NM_000284.4(PDHA1):c.874_881dup (p.Met294fs)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001044643]	pathogenic	X	19357693	19357694	Human	1	name
38598539	CV964591	duplication	NM_000284.4(PDHA1):c.949_952dup (p.Met318fs)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001253745]	pathogenic	X	19358964	19358965	Human	1	name
40887907	CV973048	duplication	NM_000284.4(PDHA1):c.918_927dup (p.Val310fs)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001265577]	pathogenic	X	19358932	19358933	Human	1	name
40886579	CV974344	duplication	NM_000284.4(PDHA1):c.948_964dup (p.Asp322fs)	Inborn genetic diseases [RCV001265730]	pathogenic	X	19358963	19358964	Human	1	name
8598621	CV25913	deletion	NM_000284.4(PDHA1):c.938_940del (p.Lys313del)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000011621]	pathogenic	X	19358953	19358955	Human	1	name
8561989	CV25925	insertion	NM_000284.4(PDHA1):c.861_862insT (p.Arg288fs)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000011633]	pathogenic	X	19357681	19357682	Human	1	name
8561990	CV25927	duplication	NM_000284.4(PDHA1):c.991_1003dup (p.Leu335fs)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000011635]	pathogenic	X	19359005	19359006	Human	1	name
402468957	CV3040489	duplication	NM_000284.4(PDHA1):c.1169_1172dup (p.Ter391=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003623576]	likely benign	X	19359647	19359648	Human	1	name
597920971	CV3852090	deletion	NM_000284.4(PDHA1):c.973_975del (p.Val325del)	Pyruvate dehydrogenase E1-alpha deficiency [RCV005205070]	uncertain significance	X	19358987	19358989	Human	1	name
12900046	CV411241	deletion	NM_000284.4(PDHA1):c.1173_*5del (p.Ter391Xaa)	Inborn genetic diseases [RCV004023155]\|Pyruvate dehydrogenase E1-alpha deficiency [RCV000887200]\|Pyruvate dehydrogenase complex deficiency [RCV001834564]\|not provided [RCV001704633]\|not specified [RCV000481535]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	19359652	19359657	Human	4	name
28880130	CV860827	duplication	NM_000284.4(PDHA1):c.721_724dup (p.Tyr242Ter)	not provided [RCV001091318]	pathogenic	X	19355464	19355465	Human		name
150546374	CV1313715	deletion	NM_000284.4(PDHA1):c.1133_1140del (p.Arg378fs)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001784813]	pathogenic	X	19359612	19359619	Human	1	name
155268385	CV1701784	deletion	NM_000284.4(PDHA1):c.1109_1122del (p.Ser370fs)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002284015]	uncertain significance	X	19359587	19359600	Human	1	name
156296588	CV2184138	deletion	NM_000284.4(PDHA1):c.1043_1053del (p.Asp348fs)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003027900]	pathogenic	X	19359522	19359532	Human	1	name
8561982	CV25910	microsatellite	NM_000284.4(PDHA1):c.1167_1170del (p.Ser390fs)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000011618]	pathogenic	X	19359640	19359643	Human		name
8561984	CV25914	deletion	NM_000284.4(PDHA1):c.1159_1160del (p.Lys387fs)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000011622]	pathogenic	X	19359639	19359640	Human	1	name
8561985	CV25915	deletion	NM_000284.4(PDHA1):c.1073_1092del (p.Glu358fs)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000011623]	pathogenic	X	19359550	19359569	Human	1	name
8561988	CV25919	duplication	NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs)	Inborn genetic diseases [RCV000624104]\|Pyruvate dehydrogenase E1-alpha deficiency [RCV000011627]\|Pyruvate dehydrogenase complex deficiency [RCV001753411]\|not provided [RCV000199126]	pathogenic\|likely pathogenic	X	19359619	19359620	Human	4	name
404981799	CV2848878	deletion	NM_000284.4(PDHA1):c.1152_1171del (p.Lys385fs)	not specified [RCV003488806]	uncertain significance	X	19359631	19359650	Human		name
13485602	CV446608	duplication	NM_000284.4(PDHA1):c.1034_1037dup (p.Glu347fs)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001853679]\|not provided [RCV000522649]	pathogenic	X	19359513	19359514	Human	1	name
13794475	CV552257	deletion	NM_000284.4(PDHA1):c.1026_1039del (p.Arg343fs)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000679875]	pathogenic	X	19359506	19359519	Human	1	name
28881251	CV860829	deletion	NM_000284.4(PDHA1):c.1080_1099del (p.Leu361fs)	not provided [RCV001092568]	pathogenic	X	19359557	19359576	Human		name
40889740	CV975608	deletion	NM_000284.4(PDHA1):c.1025_1032del (p.Val342fs)	not provided [RCV001268185]	pathogenic	X	19359500	19359507	Human		name
40903315	CV975876	microsatellite	NM_000284.4(PDHA1):c.1035_1036dup (p.Ile346fs)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001269298]	pathogenic	X	19359512	19359513	Human		name
10409170	CV212021	duplication	NM_000284.4(PDHA1):c.1159_1162dup (p.Ser388Ter)	Inborn genetic diseases [RCV002354555]\|Pyruvate dehydrogenase E1-alpha deficiency [RCV001853190]\|not provided [RCV000195575]	pathogenic	X	19359637	19359638	Human	2	name
150543191	CV1315134	deletion	NM_000284.4(PDHA1):c.896_899delTCAG (p.Ser300fs)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001782590]	likely pathogenic	X	19357714	19357717	Human	1	name
405167371	CV2936386	duplication	NM_000284.4(PDHA1):c.1157_*28dup (p.Phe386_Ter391=)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003621726]	benign	X	19359636	19359637	Human	1	name
405657484	CV3234978	indel	NM_000284.4(PDHA1):c.133delinsATTTCTGGG (p.Arg45fs)	Pyruvate dehydrogenase E1-alpha deficiency [RCV004017199]	likely pathogenic	X	19349952	19349952	Human		name
156221856	CV2104826	deletion	NM_000284.4(PDHA1):c.335_349del (p.Asp112_Thr116del)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002932488]	uncertain significance	X	19351319	19351333	Human	1	name
26901944	CV849882	duplication	NM_000284.4(PDHA1):c.963_977dup (p.Lys321_Val325dup)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001045143]\|not provided [RCV001546396]	uncertain significance	X	19358976	19358977	Human	1	name
150529489	CV1289036	duplication	NM_000284.4(PDHA1):c.1066_1074dup (p.Asp356_Glu358dup)	not provided [RCV001727505]	likely pathogenic	X	19359545	19359546	Human		name
153305557	CV1687715	microsatellite	NM_000284.4(PDHA1):c.934_940dup (p.Ser314delinsLysTer)	not provided [RCV002263536]	likely pathogenic	X	19358940	19358941	Human		name
243053092	CV2407805	microsatellite	NM_000284.4(PDHA1):c.930AAG[3] (p.Arg311_Ser312insArg)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003131160]	likely pathogenic	X	19358945	19358946	Human		name
8561991	CV25928	duplication	NM_000284.4(PDHA1):c.1074_1109dup (p.Pro359_Ser370dup)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000011636]	pathogenic	X	19359553	19359554	Human	1	name
401925057	CV2805215	duplication	NM_000284.4(PDHA1):c.1170_1171dup (p.Ter391PheextTer?)	not specified [RCV003405036]	uncertain significance	X	19359649	19359650	Human		name
404977558	CV2850708	deletion	NM_000284.4(PDHA1):c.1042_1053del (p.Asp348_Gln351del)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003486191]	uncertain significance	X	19359520	19359531	Human	1	name
408384706	CV3503364	duplication	NM_000284.4(PDHA1):c.884_887dup (p.Asp296delinsGluTer)	PDHA1-related disorder [RCV004732037]	likely pathogenic	X	19357700	19357701	Human		name , trait , alternate_id
13518054	CV488040	duplication	NM_000284.4(PDHA1):c.1050_1133dup (p.Gln351_Arg378dup)	Pyruvate dehydrogenase complex deficiency [RCV000587877]	likely pathogenic	X	19359529	19359530	Human	2	name
14727356	CV649928	deletion	NM_000284.4(PDHA1):c.1117_1128del (p.Pro373_Glu376del)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000816048]	uncertain significance	X	19359597	19359608	Human	1	name
13611440	CV514795	deletion	NM_000284.4(PDHA1):c.1172_*3del (p.Ser390_Ter391insTer)	Pyruvate dehydrogenase complex deficiency [RCV001271291]\|not specified [RCV000627391]	likely benign	X	19359652	19359656	Human	2	name
155644568	CV1710285	duplication	NM_000284.4(PDHA1):c.1033_1035dup (p.Glu345_Ile346insGlu)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002293397]	uncertain significance	X	19359510	19359511	Human	1	name
405673835	CV3222437	duplication	NM_000284.4(PDHA1):c.1143_1145dup (p.Asn381_Gln382insHis)	Pyruvate dehydrogenase E1-alpha deficiency [RCV004515805]	likely pathogenic	X	19359621	19359622	Human	1	name
151754611	CV1343269	deletion	NM_000284.4(PDHA1):c.902_907del (p.Tyr301_Thr303delinsSer)	Pyruvate dehydrogenase E1-alpha deficiency [RCV002043630]	pathogenic\|uncertain significance	X	19358918	19358923	Human	1	name
156434202	CV2401861	duplication	NM_000284.4(PDHA1):c.1103_1108dup (p.Tyr369_Ser370insPheTyr)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003110144]	uncertain significance	X	19359582	19359583	Human	1	name
401831009	CV2748657	duplication	NM_000284.4(PDHA1):c.1159_1164dup (p.Ser388_Val389insLysSer)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003330307]	uncertain significance	X	19359638	19359639	Human	1	name
25319012	CV806182	duplication	NM_000284.4(PDHA1):c.711_738dup (p.Asp247delinsSerGlnHisTer)	not provided [RCV001008886]	pathogenic	X	19355452	19355453	Human		name
156434201	CV2401860	insertion	NM_000284.4(PDHA1):c.1158_1159insCAGTGGATCAAGTTTA (p.Lys387fs)	Pyruvate dehydrogenase E1-alpha deficiency [RCV003110143]	likely pathogenic	X	19359638	19359639	Human	1	name
12742257	CV360671	duplication	NM_000284.4(PDHA1):c.921_932dup (p.Val310_Arg311insSerGlnGluVal)	not provided [RCV000413235]	pathogenic	X	19358936	19358937	Human		name
598225235	CV3892327	duplication	NM_000284.4(PDHA1):c.1014_1033dup (p.Glu345delinsValMetTrpLysTer)	Pyruvate dehydrogenase E1-alpha deficiency [RCV005254162]	likely pathogenic	X	19359493	19359494	Human	1	name
597709022	CV3732886	duplication	NM_000284.4(PDHA1):c.1125_1145dup (p.Asn381_Gln382insHisGluValArgGlyAlaAsn)	Pyruvate dehydrogenase E1-alpha deficiency [RCV005051233]	uncertain significance	X	19359604	19359605	Human	1	name
38466287	CV920003	duplication	NM_000284.4(PDHA1):c.1014_1034dup (p.Lys344_Glu345insAspAspValGluValArgLys)	Pyruvate dehydrogenase E1-alpha deficiency [RCV001199066]	uncertain significance	X	19359493	19359494	Human	1	name
14710578	CV649927	duplication	NM_000284.4(PDHA1):c.934_992dup (p.Ser331delinsArgValArgValThrLeuLeuCysPheSerArgThrGlyTrpTer)	Pyruvate dehydrogenase E1-alpha deficiency [RCV000793164]	pathogenic	X	19358949	19358950	Human	1	name
598227552	CV3894521	duplication	NM_000284.4(PDHA1):c.1083_1124dup (p.Pro374_Phe375insLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProPro)	not provided [RCV005257764]	likely pathogenic	X	19359554	19359555	Human		name

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