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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: pyruvate dehydrogenase deficiency (MONDO:0019169)
..Starting node ..pyruvate dehydrogenase E1-alpha deficiency ()
Child Nodes:
Sister Nodes:
..lipoic acid synthetase deficiency () L: 00479;
..pyruvate dehydrogenase E1-alpha deficiency () L: 00442;
..pyruvate dehydrogenase E1-beta deficiency () L: 00478;
..pyruvate dehydrogenase E2 deficiency () L: 00475;
..pyruvate dehydrogenase E3 deficiency ()
..pyruvate dehydrogenase E3-binding protein deficiency ()
..pyruvate dehydrogenase phosphatase deficiency () L: 00477;
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

10717

Name:

pyruvate dehydrogenase E1-alpha deficiency

Definition:

Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction.

Alternative IDs:

312170

ParentIDs:

TreeNumbers:

Synonyms:

ataxia with lactic acidosis 1; ataxia, intermittent, with abnormal pyruvate metabolism; ataxia, intermittent, with pyruvate dehydrogenase deficiency; ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency; lactic acidemia, thiamine-responsive; PDH deficiency; PDHAD; pyruvate

Slim Mappings:

Reference:

MedGen:
MeSH:
OMIM: 312170;
MSeqDR : 00442;
Genes: PDHA1;

Phenotypes

1	HP:0001423	X-linked dominant inheritance
2	HP:0003593	Infantile onset
3	HP:0001999	Abnormal facial shape	HP:0040284
4	HP:0000496	Abnormality of eye movement
5	HP:0001274	Agenesis of corpus callosum
6	HP:0000463	Anteverted nares
7	HP:0002872	Apneic episodes precipitated by illness, fatigue, stress
8	HP:0006799	Basal ganglia cysts
9	HP:0002059	Cerebral atrophy
10	HP:0001266	Choreoathetosis
11	HP:0004925	Chronic lactic acidosis
12	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
13	HP:0001332	Dystonia NAMDC: Dystonia
14	HP:0002131	Episodic ataxia
15	HP:0000454	Flared nostrils
16	HP:0002007	Frontal bossing
17	HP:0001290	Generalized hypotonia
18	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
19	HP:0001263	Global developmental delay NAMDC: Mental retardation
20	HP:0003348	Hyperalaninemia
21	HP:0002490	Increased CSF lactate
22	HP:0002151	Increased serum lactate
23	HP:0001249	Intellectual disability
24	HP:0001254	Lethargy
25	HP:0000343	Long philtrum
26	HP:0000252	Microcephaly
27	HP:0001252	Muscular hypotonia NAMDC: Hypotonia
28	HP:0003812	Phenotypic variability
29	HP:0000508	Ptosis NAMDC: Ptosis
30	HP:0001250	Seizures NAMDC: Seizures
31	HP:0004900	Severe lactic acidosis
32	HP:0001518	Small for gestational age
33	HP:0002119	Ventriculomegaly
34	HP:0000431	Wide nasal bridge

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000023.10:g.(?_18660114)_(19377781_?)del	-1	ADGRG2;CDKL5;PDHA1;PHKA2;PPEF1;RS1	Pathogenic	-1	RCV001033913\|RCV001391037;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MedGen:C3661900	X	18660114	19377781	-1	-
NM_001001671.4(MAP3K15):c.3781-7G>C	389840	MAP3K15	Uncertain significance	2147195977	RCV002266736;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19379540	19379540	19379540	-
NM_000284.4(PDHA1):c.*432C>T	-1	MAP3K15;PDHA1	Conflicting interpretations of pathogenicity	754719295	RCV001166917\|RCV003438702;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MedGen:C3661900	X	19378203	19378203	X:g.19378203C>T	-
NM_000284.4(PDHA1):c.*549A>G	-1	MAP3K15;PDHA1	Conflicting interpretations of pathogenicity	187525386	RCV001168625\|RCV002512142;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MedGen:C3661900	X	19378320	19378320	X:g.19378320A>G	-
NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp)	5160	PDHA1	Pathogenic/Likely pathogenic	199959402	RCV001091314\|RCV001731151;	N	MedGen:C3661900\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19369486	19369486	X:g.19369486C>T	-
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser)	5160	PDHA1	Pathogenic/Likely pathogenic	1555933963	RCV000578359\|RCV001091316\|RCV001824834;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MedGen:C3661900\|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243	X	19371272	19371272	X:g.19371272A>G	ClinGen:CA412393370	C1839413 312170 Pyruvate dehydrogenase E1-alpha deficiency;
NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu)	5160	PDHA1	Pathogenic/Likely pathogenic	137853254	RCV000011629;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373478	19373478	X:g.19373478C>G	ClinGen:CA121217,UniProtKB:P08559#VAR_004954,OMIM:300502.0012	C1839413 312170 Pyruvate dehydrogenase E1-alpha deficiency;
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg)	5160	PDHA1	Pathogenic/Likely pathogenic	1272572107	RCV000805497;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373555	19373555	X:g.19373555C>G	-
NM_000284.4(PDHA1):c.738C>T (p.Gly246=)	5160	PDHA1	Pathogenic/Likely pathogenic	1555934379	RCV000498403\|RCV000995830;	N	MedGen:CN517202\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373601	19373601	X:g.19373601C>T	ClinGen:CA515486060	CN517202 not provided;
NM_000284.4(PDHA1):c.832G>A (p.Gly278Arg)	5160	PDHA1	Pathogenic/Likely pathogenic	1057521993	RCV000427505\|RCV001250113;	N	MedGen:CN517202\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19375770	19375770	X:g.19375770G>A	ClinGen:CA16608805	CN517202 not provided;
NM_000284.4(PDHA1):c.1133G>A (p.Arg378His)	5160	PDHA1	Pathogenic/Likely pathogenic	137853250	RCV000011620\|RCV001267918\|RCV002251895;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MedGen:CN517202\|	X	19377731	19377731	X:g.19377731G>A	ClinGen:CA121205,UniProtKB:P08559#VAR_004966,OMIM:300502.0003	C1839413 312170 Pyruvate dehydrogenase E1-alpha deficiency;
NM_000284.4(PDHA1):c.29G>C (p.Arg10Pro)	5160	PDHA1	Pathogenic	137853257	RCV000011634;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19362184	19362184	X:g.19362184G>C	ClinGen:CA121223,UniProtKB:P08559#VAR_010238,OMIM:300502.0017	C1839413 312170 Pyruvate dehydrogenase E1-alpha deficiency;
NM_000284.4(PDHA1):c.58-1G>A	5160	PDHA1	Pathogenic	1569189834	RCV000688120;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19367429	19367429	X:g.19367429G>A	-	C1839413 312170 Pyruvate dehydrogenase E1-alpha deficiency;
NM_000284.4(PDHA1):c.292-1G>A	5160	PDHA1	Pathogenic	863224149	RCV000198524\|RCV001853189;	N	MedGen:CN517202\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19369398	19369398	X:g.19369398G>A	ClinGen:CA323036	CN517202 not provided;
NM_000284.4(PDHA1):c.380G>A (p.Arg127Gln)	5160	PDHA1	Pathogenic	2063162114	RCV001091315\|RCV001542509;	N	MedGen:C3661900\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19369487	19369487	X:g.19369487G>A	-
NM_000284.4(PDHA1):c.422G>A (p.Arg141Gln)	5160	PDHA1	Pathogenic	794729213	RCV000184034;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19371203	19371203	X:g.19371203G>A	ClinGen:CA203852	C1839413 312170 Pyruvate dehydrogenase E1-alpha deficiency;
NM_000284.4(PDHA1):c.482A>G (p.Tyr161Cys)	5160	PDHA1	Pathogenic	1569190962	RCV000679874\|RCV003313130;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MedGen:CN517202	X	19371263	19371263	X:g.19371263A>G	-	C1839413 312170 Pyruvate dehydrogenase E1-alpha deficiency;
NM_000284.4(PDHA1):c.483C>T (p.Tyr161=)	5160	PDHA1	Pathogenic	398123300	RCV000078557\|RCV001218777;	N	MedGen:CN517202\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19371264	19371264	X:g.19371264C>T	ClinGen:CA220607	CN517202 not provided;
NM_000284.4(PDHA1):c.498C>T (p.Ile166=)	5160	PDHA1	Pathogenic	2147178249	RCV001547760\|RCV001824174;	N	MedGen:C3661900\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19371279	19371279	19371279	-
NM_000284.4(PDHA1):c.506C>T (p.Ala169Val)	5160	PDHA1	Pathogenic	863224150	RCV000199416\|RCV000640506\|RCV001526400;	N	MedGen:CN517202\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243	X	19371287	19371287	NC_000023.10:g.19371287C>T	ClinGen:CA323959	CN517202 not provided;
NM_000284.4(PDHA1):c.523G>A (p.Ala175Thr)	5160	PDHA1	Pathogenic	1569191372	RCV000680062;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19372621	19372621	X:g.19372621G>A	-	C1839413 312170 Pyruvate dehydrogenase E1-alpha deficiency;
NM_000284.4(PDHA1):c.616G>A (p.Glu206Lys)	5160	PDHA1	Pathogenic	-1	RCV003335884;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373479	19373479		-
NM_000284.4(PDHA1):c.642G>T (p.Trp214Cys)	5160	PDHA1	Pathogenic	1569191659	RCV000995601;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373505	19373505	X:g.19373505G>T	-
NM_000284.4(PDHA1):c.648A>C (p.Leu216Phe)	5160	PDHA1	Pathogenic	121917898	RCV000011640;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373511	19373511	X:g.19373511A>C	ClinGen:CA121228,OMIM:300502.0023	C1839413 312170 Pyruvate dehydrogenase E1-alpha deficiency;
NM_000284.4(PDHA1):c.688_700del (p.Gly230fs)	5160	PDHA1	Pathogenic	-1	RCV003054798;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373549	19373561	NC_000023.10:g.19373551_19373563del	-
NM_000284.4(PDHA1):c.687G>C (p.Met229Ile)	5160	PDHA1	Pathogenic	2063189233	RCV001067311;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373550	19373550	X:g.19373550G>C	-
NM_000284.4(PDHA1):c.727T>A (p.Tyr243Asn)	5160	PDHA1	Pathogenic	137853255	RCV000011630;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373590	19373590	X:g.19373590T>A	ClinGen:CA121218,UniProtKB:P08559#VAR_021053,OMIM:300502.0013	C1839413 312170 Pyruvate dehydrogenase E1-alpha deficiency;
NM_000284.4(PDHA1):c.728A>G (p.Tyr243Cys)	5160	PDHA1	Pathogenic	2147180935	RCV001844384;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373591	19373591	19373591	-
NM_000284.4(PDHA1):c.773A>C (p.Asp258Ala)	5160	PDHA1	Pathogenic	137853253	RCV000011628;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373817	19373817	X:g.19373817A>C	ClinGen:CA121216,UniProtKB:P08559#VAR_004958,OMIM:300502.0011	C1839413 312170 Pyruvate dehydrogenase E1-alpha deficiency;
NM_000284.4(PDHA1):c.787C>G (p.Arg263Gly)	5160	PDHA1	Pathogenic	137853259	RCV000011625\|RCV000196576;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MedGen:C3661900	X	19373831	19373831	X:g.19373831C>G	ClinGen:CA121213,UniProtKB:P08559#VAR_004959,OMIM:300502.0008	CN517202 not provided;
NM_000284.4(PDHA1):c.787C>T (p.Arg263Ter)	5160	PDHA1	Pathogenic	137853259	RCV001550845\|RCV001638161;	N	MedGen:C3661900\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373831	19373831	19373831	-
NM_000284.4(PDHA1):c.788G>C (p.Arg263Pro)	5160	PDHA1	Pathogenic	2063192428	RCV001542510\|RCV002286846;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MedGen:C3661900	X	19373832	19373832	19373832	-
NM_000284.4(PDHA1):c.822_826dup (p.Gly276fs)	5160	PDHA1	Pathogenic	1602228017	RCV000990498;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373864	19373865	X:g.19373864_19373865insGATCT	-
NM_000284.4(PDHA1):c.858_861dup (p.Arg288fs)	5160	PDHA1	Pathogenic	1555934859	RCV000413173\|RCV001753844;	N	MedGen:CN517202\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19375793	19375794	X:g.19375793_19375794insACTT	ClinGen:CA16043242	CN517202 not provided;
NM_000284.4(PDHA1):c.861_862insT (p.Arg288fs)	5160	PDHA1	Pathogenic	606231190	RCV000011633;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19375799	19375800	NC_000023.10:g.19375799_19375800insT	ClinGen:CA121222,OMIM:300502.0016	C1839413 312170 Pyruvate dehydrogenase E1-alpha deficiency;
NM_000284.4(PDHA1):c.862C>T (p.Arg288Cys)	5160	PDHA1	Pathogenic	2063213272	RCV001204675;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19375800	19375800	X:g.19375800C>T	-
NM_000284.4(PDHA1):c.863G>A (p.Arg288His)	5160	PDHA1	Pathogenic	137853258	RCV000011637;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19375801	19375801	X:g.19375801G>A	ClinGen:CA121226,UniProtKB:P08559#VAR_021055,OMIM:300502.0020	C1839413 312170 Pyruvate dehydrogenase E1-alpha deficiency;
NM_000284.4(PDHA1):c.874_881dup (p.Met294fs)	5160	PDHA1	Pathogenic	2063213396	RCV001044643;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19375811	19375812	X:g.19375811_19375812insCACAGTAT	-
NM_000284.4(PDHA1):c.899+2T>A	5160	PDHA1	Pathogenic	2063213491	RCV001329773;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19375839	19375839	19375839	-
NM_000284.4(PDHA1):c.900-3_917dup	5160	PDHA1	Pathogenic	606231188	RCV000011624;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377029	19377030	NC_000023.10:g.19377031_19377051dup	ClinGen:CA121211,OMIM:300502.0007	C1839413 312170 Pyruvate dehydrogenase E1-alpha deficiency;
NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys)	5160	PDHA1	Pathogenic	137853252	RCV000011626\|RCV000199671\|RCV000622696\|RCV003407316;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|	X	19377038	19377038	X:g.19377038C>T	ClinGen:CA121214,UniProtKB:P08559#VAR_004962,OMIM:300502.0009	C0950123 Inborn genetic diseases;
NM_000284.4(PDHA1):c.905G>A (p.Arg302His)	5160	PDHA1	Pathogenic	1064794149	RCV000481593\|RCV001216859;	N	MedGen:CN517202\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377039	19377039	X:g.19377039G>A	ClinGen:CA16621292	CN517202 not provided;
NM_000284.4(PDHA1):c.910C>T (p.Arg304Ter)	5160	PDHA1	Pathogenic	-1	RCV000196688\|RCV000760291\|RCV001753598;	N	MedGen:CN517202\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243	X	19377044	19377044	X:g.19377044C>T	ClinGen:CA321113	CN517202 not provided;
NM_000284.4(PDHA1):c.918_927dup (p.Val310fs)	5160	PDHA1	Pathogenic	2063232292	RCV001265577;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377050	19377051	X:g.19377050_19377051insAAATTCAGGA	-
NM_000284.4(PDHA1):c.934_940del (p.Ser312fs)	5160	PDHA1	Pathogenic	606231185	RCV000011619\|RCV001092567;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MedGen:C3661900	X	19377059	19377065	NC_000023.10:g.19377061AGTAAGA[1]	ClinGen:CA121204,OMIM:300502.0002	C1839413 312170 Pyruvate dehydrogenase E1-alpha deficiency;
NM_000284.4(PDHA1):c.930AAG[1] (p.Arg311del)	5160	PDHA1	Pathogenic	1555935223	RCV000578365;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377064	19377066	X:g.19377064_19377066del	ClinGen:CA658684283	C1839413 312170 Pyruvate dehydrogenase E1-alpha deficiency;
NM_000284.4(PDHA1):c.936_939del (p.Ser312fs)	5160	PDHA1	Pathogenic	863224153	RCV000198854\|RCV001254096;	N	MedGen:CN517202\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377067	19377070	X:g.19377067_19377070del	ClinGen:CA323384	CN517202 not provided;
NM_000284.4(PDHA1):c.934_992dup (p.Ser331delinsArgValArgValThrLeuLeuCysPheSerArgThrGlyTrpTer)	5160	PDHA1	Pathogenic	1602231539	RCV000793164;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377067	19377068	X:g.19377067_19377068insAGTAAGAGTGACCCTATTATGCTTCTCAAGGACAGGATGGTGAACAGCAATCTTGCCAG	-
NM_000284.4(PDHA1):c.937_940dup (p.Ser314fs)	5160	PDHA1	Pathogenic	137853251	RCV000196049\|RCV001224932;	N	MedGen:CN517202\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377070	19377071	NC_000023.10:g.19377071_19377074dup	ClinGen:CA320449	CN517202 not provided;
NM_000284.4(PDHA1):c.938_940del (p.Lys313del)	5160	PDHA1	Pathogenic	137853251	RCV000011621;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377071	19377073	X:g.19377071_19377073del	ClinGen:CA121206,OMIM:300502.0004	C1839413 312170 Pyruvate dehydrogenase E1-alpha deficiency;
NM_000284.4(PDHA1):c.949_952dup (p.Met318fs)	5160	PDHA1	Pathogenic	2063232824	RCV001253745;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377082	19377083	X:g.19377082_19377083insATTA	-
NM_000284.4(PDHA1):c.956_959dup (p.Lys321fs)	5160	PDHA1	Pathogenic	-1	RCV002991812;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377089	19377090	NC_000023.10:g.19377090_19377093dup	-
NM_000284.4(PDHA1):c.991_1003dup (p.Leu335fs)	5160	PDHA1	Pathogenic	-1	RCV000011635;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377123	19377124	19377123	OMIM:300502.0018
NM_000284.4(PDHA1):c.1009-16_1010del	5160	PDHA1	Pathogenic	2147188973	RCV002227413;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377591	19377608	19377590	-
NM_000284.4(PDHA1):c.1026_1039del (p.Arg343fs)	5160	PDHA1	Pathogenic	1569194036	RCV000679875;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377624	19377637	X:g.19377624_19377637del	-	C1839413 312170 Pyruvate dehydrogenase E1-alpha deficiency;
NM_000284.4(PDHA1):c.1035_1036dup (p.Ile346fs)	5160	PDHA1	Pathogenic	2063245185	RCV001269298;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377630	19377631	X:g.19377630_19377631insGA	-
NM_000284.4(PDHA1):c.1034_1037dup (p.Glu347fs)	5160	PDHA1	Pathogenic	1555935473	RCV000522649\|RCV001853679;	N	MedGen:CN517202\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377631	19377632	NC_000023.10:g.19377632_19377635dup	ClinGen:CA658658932	CN517202 not provided;
NM_000284.4(PDHA1):c.1043_1053del (p.Asp348fs)	5160	PDHA1	Pathogenic	-1	RCV003027900;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377640	19377650	NC_000023.10:g.19377641_19377651del	-
NM_000284.4(PDHA1):c.1073_1092del (p.Glu358fs)	5160	PDHA1	Pathogenic	606231187	RCV000011623;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377668	19377687	NC_000023.10:g.19377671_19377690del	ClinGen:CA121210,OMIM:300502.0006	C1839413 312170 Pyruvate dehydrogenase E1-alpha deficiency;
NM_000284.4(PDHA1):c.1074_1109dup (p.Pro359_Ser370dup)	5160	PDHA1	Pathogenic	606231191	RCV000011636;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377671	19377672	NC_000023.10:g.19377672_19377707dup	ClinGen:CA121224,OMIM:300502.0019	C1839413 312170 Pyruvate dehydrogenase E1-alpha deficiency;
NM_000284.4(PDHA1):c.1100A>T (p.His367Leu)	5160	PDHA1	Pathogenic	1131691584	RCV001281574;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377698	19377698	19377698	OMIM:300502.0024
NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys)	5160	PDHA1	Pathogenic	863224147	RCV000198575\|RCV000497402\|RCV001788065\|RCV001796726;	N	MedGen:CN517202\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|EFO:EFO_0005303,MeSH:D013398,MedGen:C0038644,OMIM:272120\|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243	X	19377730	19377730	X:g.19377730C>T	ClinGen:CA323094	CN517202 not provided;
NM_000284.4(PDHA1):c.1133_1140del (p.Arg378fs)	5160	PDHA1	Pathogenic	2147189315	RCV001784813;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377730	19377737	19377729	-
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs)	5160	PDHA1	Pathogenic	606231189	RCV000011627\|RCV000199126\|RCV000624104\|RCV001753411;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243	X	19377737	19377738	NC_000023.10:g.19377740_19377743dup	ClinGen:CA121215,OMIM:300502.0010	C0950123 Inborn genetic diseases;
NM_000284.4(PDHA1):c.1159_1162dup (p.Ser388Ter)	5160	PDHA1	Pathogenic	863224156	RCV000195575\|RCV001853190\|RCV002354555;	N	MedGen:CN517202\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MeSH:D030342,MedGen:C0950123	X	19377755	19377756	NC_000023.10:g.19377757_19377760dup	ClinGen:CA319929	CN517202 not provided;
NM_000284.4(PDHA1):c.1159_1160del (p.Lys387fs)	5160	PDHA1	Pathogenic	606231186	RCV000011622;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377757	19377758	NC_000023.10:g.19377757_19377758del	ClinGen:CA121209,OMIM:300502.0005	C1839413 312170 Pyruvate dehydrogenase E1-alpha deficiency;
NM_000284.4(PDHA1):c.1167_1170del (p.Ser390fs)	5160	PDHA1	Pathogenic	606231184	RCV000011618;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377758	19377761	NC_000023.10:g.19377761CAGT[1]	ClinGen:CA121203,OMIM:300502.0001	C1839413 312170 Pyruvate dehydrogenase E1-alpha deficiency;
NM_000284.4(PDHA1):c.79_90dup	5160	PDHA1	Pathogenic	1555935690	RCV000011638;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377849	19377850	NC_000023.10:g.19377850_19377861dupAGTCAATGAAAT	ClinGen:CA121227,OMIM:300502.0021	C1839413 312170 Pyruvate dehydrogenase E1-alpha deficiency;
NM_000284.4(PDHA1):c.46del (p.Ser16fs)	5160	PDHA1	Likely pathogenic	2147168716	RCV001808196;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19362200	19362200	19362199	-
NM_000284.4(PDHA1):c.57+2531T>C	5160	PDHA1	Likely pathogenic	2063135938	RCV001198456;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19364743	19364743	X:g.19364743T>C	-
NM_000284.4(PDHA1):c.195dup (p.Arg66fs)	5160	PDHA1	Likely pathogenic	-1	RCV003135630;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19368131	19368132	NC_000023.10:g.19368132dup	-
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys)	5160	PDHA1	Likely pathogenic	863224148	RCV000505722\|RCV000624128\|RCV000692713\|RCV001814100\|RCV001796727;	N	MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|Human Phenotype Ontology:HP:0012103,MedGen:C4023042\|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243	X	19368151	19368151	X:g.19368151C>T	ClinGen:CA320653,UniProtKB:P08559#VAR_004949	C0950123 Inborn genetic diseases;
NM_000284.4(PDHA1):c.291+1_418+1dup	5160	PDHA1	Likely pathogenic	-1	RCV000735827;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19368227	19368228	NC_000023.10:g.19368229_19369526dup	-
NM_000284.4(PDHA1):c.300_301dup (p.Cys101fs)	5160	PDHA1	Likely pathogenic	1569190422	RCV000721984;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19369406	19369407	NC_000023.10:g.19369407_19369408dup	-
NM_000284.4(PDHA1):c.355C>T (p.Arg119Trp)	5160	PDHA1	Likely pathogenic	2147176072	RCV001775392;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19369462	19369462	19369462	-
NM_000284.4(PDHA1):c.455C>T (p.Ser152Leu)	5160	PDHA1	Likely pathogenic	1555933954	RCV000578270;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19371236	19371236	X:g.19371236C>T	ClinGen:CA412393200	C1839413 312170 Pyruvate dehydrogenase E1-alpha deficiency;
NM_000284.4(PDHA1):c.461A>G (p.His154Arg)	5160	PDHA1	Likely pathogenic	1131692230	RCV000495894;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19371242	19371242	X:g.19371242A>G	ClinGen:CA412393238	C1839413 312170 Pyruvate dehydrogenase E1-alpha deficiency;
NM_000284.4(PDHA1):c.465G>T (p.Met155Ile)	5160	PDHA1	Likely pathogenic	-1	RCV003335786;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19371246	19371246		-
NM_000284.4(PDHA1):c.511G>A (p.Val171Met)	5160	PDHA1	Likely pathogenic	-1	RCV002470655;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19372609	19372609	NC_000023.10:g.19372609G>A	-
NM_000284.4(PDHA1):c.518T>C (p.Leu173Pro)	5160	PDHA1	Likely pathogenic	-1	RCV002471390;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19372616	19372616	NC_000023.10:g.19372616T>C	-
NM_000284.4(PDHA1):c.536T>G (p.Leu179Arg)	5160	PDHA1	Likely pathogenic	1555934165	RCV000578439;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19372634	19372634	X:g.19372634T>G	ClinGen:CA412393934	C1839413 312170 Pyruvate dehydrogenase E1-alpha deficiency;
NM_000284.4(PDHA1):c.624C>A (p.Tyr208Ter)	5160	PDHA1	Likely pathogenic	2147180742	RCV001775482;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373487	19373487	19373487	-
NM_000284.4(PDHA1):c.640T>G (p.Trp214Gly)	5160	PDHA1	Likely pathogenic	-1	RCV002468760;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373503	19373503	NC_000023.10:g.19373503T>G	-
NM_000284.4(PDHA1):c.679T>C (p.Tyr227His)	5160	PDHA1	Likely pathogenic	2147180839	RCV001706839;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373542	19373542	19373542	-
NM_000284.4(PDHA1):c.685A>T (p.Met229Leu)	5160	PDHA1	Likely pathogenic	2147180851	RCV001782589;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373548	19373548	19373548	-
NM_000284.4(PDHA1):c.749C>T (p.Pro250Leu)	5160	PDHA1	Likely pathogenic	1602227679	RCV000789029;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373612	19373612	X:g.19373612C>T	-
NM_000284.4(PDHA1):c.766G>A (p.Gly256Arg)	5160	PDHA1	Likely pathogenic	-1	RCV003219193;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373810	19373810		-
NM_000284.4(PDHA1):c.791_792del (p.Glu264fs)	5160	PDHA1	Likely pathogenic	1569191879	RCV000721985;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373832	19373833	NC_000023.10:g.19373833AG[1]	-
NM_000284.4(PDHA1):c.868C>T (p.His290Tyr)	5160	PDHA1	Likely pathogenic	2147184502	RCV001785357;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19375806	19375806	19375806	-
NM_000284.4(PDHA1):c.896_899delTCAG (p.Ser300fs)	5160	PDHA1	Likely pathogenic	2147184540	RCV001782590;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19375832	19375835	19375831	-
NM_000284.4(PDHA1):c.930AAG[3] (p.Arg311_Ser312insArg)	5160	PDHA1	Likely pathogenic	-1	RCV003131160;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377063	19377064	NC_000023.10:g.19377064AAG[3]	-
NM_000284.4(PDHA1):c.943G>A (p.Asp315Asn)	5160	PDHA1	Likely pathogenic	137853256	RCV000011631\|RCV001268860;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MedGen:CN517202	X	19377077	19377077	X:g.19377077G>A	ClinGen:CA121219,UniProtKB:P08559#VAR_021056,OMIM:300502.0014	C1839413 312170 Pyruvate dehydrogenase E1-alpha deficiency;
NM_000284.4(PDHA1):c.1060A>C (p.Thr354Pro)	5160	PDHA1	Likely pathogenic	1157736285	RCV001007886;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377658	19377658	X:g.19377658A>C	-
NM_000284.4(PDHA1):c.1098C>A (p.Tyr366Ter)	5160	PDHA1	Likely pathogenic	2063246734	RCV001262561;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377696	19377696	X:g.19377696C>A	-
NM_000284.4(PDHA1):c.1136G>T (p.Gly379Val)	5160	PDHA1	Likely pathogenic	2147189334	RCV002249122;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377734	19377734	19377734	-
NM_000284.4(PDHA1):c.1158_1159insCAGTGGATCAAGTTTA (p.Lys387fs)	5160	PDHA1	Likely pathogenic	-1	RCV003110143;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377756	19377757	NC_000023.10:g.19377756_19377757insCAGTGGATCAAGTTTA	-
NM_000284.4(PDHA1):c.-98C>T	5160	PDHA1	Benign	192773464	RCV001169323;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19362058	19362058	X:g.19362058C>T	-
NM_000284.4(PDHA1):c.-88G>A	5160	PDHA1	Benign	5955751	RCV001169324\|RCV001638047;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MedGen:C3661900	X	19362068	19362068	X:g.19362068G>A	-
NM_000284.4(PDHA1):c.-79C>T	5160	PDHA1	Uncertain significance	942040058	RCV001169325;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19362077	19362077	X:g.19362077C>T	-
NM_000284.4(PDHA1):c.15C>T (p.Leu5=)	5160	PDHA1	Likely benign	1203110648	RCV002172463;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19362170	19362170	19362170	-
NM_000284.4(PDHA1):c.16G>A (p.Ala6Thr)	5160	PDHA1	Conflicting interpretations of pathogenicity	768396832	RCV000990497;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19362171	19362171	X:g.19362171G>A	-
NM_000284.4(PDHA1):c.18C>T (p.Ala6=)	5160	PDHA1	Likely benign	1275009783	RCV002091034;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19362173	19362173	19362173	-
NM_000284.4(PDHA1):c.21C>T (p.Ala7=)	5160	PDHA1	Likely benign	1367997023	RCV001400765;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19362176	19362176	19362176	-
NM_000284.4(PDHA1):c.21C>G (p.Ala7=)	5160	PDHA1	Likely benign	-1	RCV002882022;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19362176	19362176		-
NM_000284.4(PDHA1):c.30C>T (p.Arg10=)	5160	PDHA1	Likely benign	1425138915	RCV001404340;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19362185	19362185	19362185	-
NM_000284.4(PDHA1):c.42C>T (p.Gly14=)	5160	PDHA1	Likely benign	778260543	RCV002145591;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19362197	19362197	19362197	-
NM_000284.4(PDHA1):c.54G>A (p.Lys18=)	5160	PDHA1	Likely benign	1383593536	RCV002172695;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19362209	19362209	19362209	-
NM_000284.4(PDHA1):c.57+6A>T	5160	PDHA1	Likely benign	375415868	RCV000933938;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19362218	19362218	X:g.19362218A>T	-
NM_000284.4(PDHA1):c.57+8C>A	5160	PDHA1	Likely benign	-1	RCV003019566;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19362220	19362220	NC_000023.10:g.19362220C>A	-
NM_000284.4(PDHA1):c.57+11C>G	5160	PDHA1	Likely benign	1381469880	RCV002198656;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19362223	19362223	19362223	-
NM_000284.4(PDHA1):c.57+2505C>G	5160	PDHA1	Uncertain significance	-1	RCV002470490;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19364717	19364717	NC_000023.10:g.19364717C>G	-
NM_000284.4(PDHA1):c.58-8C>T	5160	PDHA1	Likely benign	-1	RCV003045603;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19367422	19367422	NC_000023.10:g.19367422C>T	-
NM_000284.4(PDHA1):c.58-4T>C	5160	PDHA1	Likely benign	2147174061	RCV002198463;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19367426	19367426	19367426	-
NM_000284.4(PDHA1):c.69G>A (p.Val23=)	5160	PDHA1	Benign/Likely benign	770667770	RCV001169326;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19367441	19367441	X:g.19367441G>A	-
NM_000284.4(PDHA1):c.97G>C (p.Asp33His)	5160	PDHA1	Benign/Likely benign	150318528	RCV000195613\|RCV000433475\|RCV001088112\|RCV002315625;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MeSH:D030342,MedGen:C0950123	X	19367469	19367469	NC_000023.10:g.19367469G>C	ClinGen:CA319973	CN517202 not provided;
NM_000284.4(PDHA1):c.98A>T (p.Asp33Val)	5160	PDHA1	Conflicting interpretations of pathogenicity	-1	RCV002287826\|RCV003101652;	N	\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19367470	19367470	19367470	-
NM_000284.4(PDHA1):c.117+7G>A	5160	PDHA1	Likely benign	1232550777	RCV001422554;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19367496	19367496	19367496	-
NM_000284.4(PDHA1):c.117+9T>G	5160	PDHA1	Likely benign	763924525	RCV001462330;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19367498	19367498	19367498	-
NM_000284.4(PDHA1):c.117+17T>G	5160	PDHA1	Benign	-1	RCV002654937;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19367506	19367506	NC_000023.10:g.19367506T>G	-
NM_000284.4(PDHA1):c.117+19T>A	5160	PDHA1	Benign/Likely benign	373859720	RCV000444048\|RCV002521590;	N	MedGen:CN169374\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19367508	19367508	X:g.19367508T>A	ClinGen:CA10362989	CN169374 not specified;
NC_000023.10:g.(?_19368035)_(19377771_?)dup	5160	PDHA1	Uncertain significance	-1	RCV003110946;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19368035	19377771		-
NM_000284.4(PDHA1):c.118-17A>G	5160	PDHA1	Benign/Likely benign	749601456	RCV000599835\|RCV002063901;	N	MedGen:CN169374\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19368038	19368038	X:g.19368038A>G	ClinGen:CA10362996	CN169374 not specified;
NM_000284.4(PDHA1):c.118-13T>A	5160	PDHA1	Likely benign	-1	RCV003010098;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19368042	19368042	NC_000023.10:g.19368042T>A	-
NM_000284.4(PDHA1):c.118-8C>A	5160	PDHA1	Likely benign	774137227	RCV001463811;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19368047	19368047	19368047	-
NM_000284.4(PDHA1):c.118A>G (p.Lys40Glu)	5160	PDHA1	Uncertain significance	-1	RCV003134782;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19368055	19368055	NC_000023.10:g.19368055A>G	-
NM_000284.4(PDHA1):c.126C>G (p.Asp42Glu)	5160	PDHA1	Likely benign	759331650	RCV001452517\|RCV001826276\|RCV003438805;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243\|MedGen:C3661900	X	19368063	19368063	19368063	-
NM_000284.4(PDHA1):c.133C>T (p.Arg45Trp)	5160	PDHA1	Uncertain significance	-1	RCV002574416;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19368070	19368070	NC_000023.10:g.19368070C>T	-
NM_000284.4(PDHA1):c.134G>A (p.Arg45Gln)	5160	PDHA1	Likely benign	144967854	RCV001495486\|RCV002563299;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MeSH:D030342,MedGen:C0950123	X	19368071	19368071	19368071	-
NM_000284.4(PDHA1):c.139G>A (p.Glu47Lys)	5160	PDHA1	Likely benign	745312079	RCV002220768;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19368076	19368076	19368076	-
NM_000284.4(PDHA1):c.147C>T (p.Gly49=)	5160	PDHA1	Likely benign	1555933449	RCV000611954\|RCV002528762;	N	MedGen:CN169374\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19368084	19368084	X:g.19368084C>T	ClinGen:CA515485226	CN169374 not specified;
NM_000284.4(PDHA1):c.162A>C (p.Thr54=)	5160	PDHA1	Likely benign	1602223801	RCV001460518;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19368099	19368099	X:g.19368099A>C	-
NM_000284.4(PDHA1):c.186C>T (p.Leu62=)	5160	PDHA1	Likely benign	1031411207	RCV001458562;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19368123	19368123	19368123	-
NM_000284.4(PDHA1):c.192C>T (p.Tyr64=)	5160	PDHA1	Likely benign	2147174737	RCV001421415;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19368129	19368129	19368129	-
NM_000284.4(PDHA1):c.194A>C (p.Tyr65Ser)	5160	PDHA1	Uncertain significance	-1	RCV002471544;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19368131	19368131	NC_000023.10:g.19368131A>C	-
NM_000284.4(PDHA1):c.196A>C (p.Arg66=)	5160	PDHA1	Likely benign	-1	RCV003023419;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19368133	19368133		-
NM_000284.4(PDHA1):c.217C>A (p.Arg73=)	5160	PDHA1	Benign	761538559	RCV001521809;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19368154	19368154	19368154	-
NM_000284.4(PDHA1):c.225G>A (p.Glu75=)	5160	PDHA1	Likely benign	1569190079	RCV002183722;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19368162	19368162	19368162	-
NM_000284.4(PDHA1):c.231A>T (p.Lys77Asn)	5160	PDHA1	Uncertain significance	2147174771	RCV002052075;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19368168	19368168	19368168	-
NM_000284.4(PDHA1):c.239A>C (p.Gln80Pro)	5160	PDHA1	Uncertain significance	-1	RCV002298962;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19368176	19368176	19368176	-
NM_000284.4(PDHA1):c.240G>A (p.Gln80=)	5160	PDHA1	Likely benign	1602223831	RCV001398487;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19368177	19368177	X:g.19368177G>A	-
NM_000284.4(PDHA1):c.250C>A (p.Gln84Lys)	5160	PDHA1	Uncertain significance	-1	RCV003134783;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19368187	19368187	NC_000023.10:g.19368187C>A	-
NM_000284.4(PDHA1):c.252G>A (p.Gln84=)	5160	PDHA1	Benign/Likely benign	144828838	RCV000939917\|RCV001698061\|RCV002431827;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	X	19368189	19368189	X:g.19368189G>A	ClinGen:CA10363007	CN169374 not specified;
NM_000284.4(PDHA1):c.265G>A (p.Gly89Ser)	5160	PDHA1	Uncertain significance	1569190092	RCV000680061;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19368202	19368202	X:g.19368202G>A	-	C1839413 312170 Pyruvate dehydrogenase E1-alpha deficiency;
NM_000284.4(PDHA1):c.270C>T (p.Phe90=)	5160	PDHA1	Likely benign	2147174805	RCV001458979;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19368207	19368207	19368207	-
NM_000284.4(PDHA1):c.291+8G>A	5160	PDHA1	Likely benign	1022434857	RCV002208238;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19368236	19368236	19368236	-
NM_000284.4(PDHA1):c.291+12G>A	5160	PDHA1	Benign	755244308	RCV001169327;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19368240	19368240	X:g.19368240G>A	-
NM_000284.4(PDHA1):c.292-23A>G	5160	PDHA1	Conflicting interpretations of pathogenicity	1057518702	RCV000415131;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19369376	19369376	X:g.19369376A>G	ClinGen:CA16043723	C1839413 312170 Pyruvate dehydrogenase E1-alpha deficiency;
NM_000284.4(PDHA1):c.292-11C>T	5160	PDHA1	Benign	776535833	RCV002116179;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19369388	19369388	19369388	-
NM_000284.4(PDHA1):c.292-9C>T	5160	PDHA1	Likely benign	371532584	RCV001447760;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19369390	19369390	19369390	-
NM_000284.4(PDHA1):c.292-8T>A	5160	PDHA1	Likely benign	-1	RCV002825161;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19369391	19369391	NC_000023.10:g.19369391T>A	-
NM_000284.4(PDHA1):c.292-7A>G	5160	PDHA1	Likely benign	2147175965	RCV001478939;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19369392	19369392	19369392	-
NM_000284.4(PDHA1):c.292-5C>T	5160	PDHA1	Benign/Likely benign	191666624	RCV000893425\|RCV001719097;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MedGen:C3661900	X	19369394	19369394	X:g.19369394C>T	ClinGen:CA10363022	CN169374 not specified;
NM_000284.4(PDHA1):c.294A>G (p.Glu98=)	5160	PDHA1	Likely benign	-1	RCV002890080;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19369401	19369401		-
NM_000284.4(PDHA1):c.300C>T (p.Cys100=)	5160	PDHA1	Likely benign	-1	RCV003092642;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19369407	19369407		-
NM_000284.4(PDHA1):c.306G>T (p.Val102=)	5160	PDHA1	Likely benign	2063161583	RCV002071797;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19369413	19369413	19369413	-
NM_000284.4(PDHA1):c.318C>T (p.Ala106=)	5160	PDHA1	Likely benign	764516370	RCV000928569;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19369425	19369425	X:g.19369425C>T	-
NM_000284.4(PDHA1):c.319G>A (p.Gly107Ser)	5160	PDHA1	Uncertain significance	764996618	RCV000824394\|RCV001271287;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243	X	19369426	19369426	X:g.19369426G>A	-
NM_000284.4(PDHA1):c.327C>T (p.Asn109=)	5160	PDHA1	Benign	772943333	RCV001513200;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19369434	19369434	19369434	-
NM_000284.4(PDHA1):c.330C>T (p.Pro110=)	5160	PDHA1	Likely benign	2147176033	RCV001455375;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19369437	19369437	19369437	-
NM_000284.4(PDHA1):c.335_349del (p.Asp112_Thr116del)	5160	PDHA1	Uncertain significance	-1	RCV002932488;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19369437	19369451	NC_000023.10:g.19369442_19369456del	-
NM_000284.4(PDHA1):c.333A>G (p.Thr111=)	5160	PDHA1	Likely benign	1198119577	RCV001476670;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19369440	19369440	19369440	-
NM_000284.4(PDHA1):c.336C>T (p.Asp112=)	5160	PDHA1	Likely benign	1294663884	RCV002182911;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19369443	19369443	19369443	-
NM_000284.4(PDHA1):c.345C>T (p.Ile115=)	5160	PDHA1	Likely benign	997748901	RCV001460261;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19369452	19369452	19369452	-
NM_000284.4(PDHA1):c.363C>T (p.His121=)	5160	PDHA1	Benign/Likely benign	183170654	RCV000929760\|RCV001697544;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MedGen:C3661900	X	19369470	19369470	X:g.19369470C>T	ClinGen:CA10363027	CN169374 not specified;
NM_000284.4(PDHA1):c.375C>T (p.Phe125=)	5160	PDHA1	Likely benign	2063162028	RCV001405310;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19369482	19369482	19369482	-
NM_000284.4(PDHA1):c.390C>T (p.Ser130=)	5160	PDHA1	Benign	756138817	RCV001520992;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19369497	19369497	19369497	-
NM_000284.4(PDHA1):c.396A>C (p.Arg132=)	5160	PDHA1	Benign/Likely benign	757654963	RCV000611587\|RCV000933377\|RCV001088181;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19369503	19369503	X:g.19369503A>C	ClinGen:CA10363030	CN169374 not specified;
NM_000284.4(PDHA1):c.397G>A (p.Glu133Lys)	5160	PDHA1	Uncertain significance	-1	RCV003039736;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19369504	19369504	NC_000023.10:g.19369504G>A	-
NM_000284.4(PDHA1):c.405C>T (p.Leu135=)	5160	PDHA1	Likely benign	-1	RCV002866540;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19369512	19369512		-
NM_000284.4(PDHA1):c.406G>A (p.Ala136Thr)	5160	PDHA1	Conflicting interpretations of pathogenicity	138727886	RCV000513883\|RCV001082627;	N	MedGen:C3661900\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19369513	19369513	X:g.19369513G>A	ClinGen:CA10363031	CN517202 not provided;
NM_000284.4(PDHA1):c.411G>A (p.Glu137=)	5160	PDHA1	Likely benign	1301075698	RCV001421195;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19369518	19369518	X:g.19369518G>A	-
NM_000284.4(PDHA1):c.418+8G>A	5160	PDHA1	Benign	779583146	RCV001511416;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19369533	19369533	19369533	-
NM_000284.4(PDHA1):c.418+8G>C	5160	PDHA1	Likely benign	-1	RCV003051421;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19369533	19369533	NC_000023.10:g.19369533G>C	-
NM_000284.4(PDHA1):c.419-8A>G	5160	PDHA1	Likely benign	769681451	RCV001472538;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19371192	19371192	19371192	-
NM_000284.4(PDHA1):c.427G>A (p.Gly143Arg)	5160	PDHA1	Uncertain significance	1057518695	RCV000415066;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19371208	19371208	X:g.19371208G>A	ClinGen:CA16043706	C1839413 312170 Pyruvate dehydrogenase E1-alpha deficiency;
NM_000284.4(PDHA1):c.434G>A (p.Cys145Tyr)	5160	PDHA1	Uncertain significance	1555933946	RCV000640507;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19371215	19371215	NC_000023.10:g.19371215G>A	ClinGen:CA412393012	C1839413 312170 Pyruvate dehydrogenase E1-alpha deficiency;
NM_000284.4(PDHA1):c.435T>C (p.Cys145=)	5160	PDHA1	Likely benign	1268555913	RCV001450948;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19371216	19371216	19371216	-
NM_000284.4(PDHA1):c.456G>A (p.Ser152=)	5160	PDHA1	Likely benign	1358837850	RCV000616059\|RCV002065288;	N	MedGen:CN169374\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19371237	19371237	X:g.19371237G>A	ClinGen:CA515485881	CN169374 not specified;
NM_000284.4(PDHA1):c.477C>T (p.Asn159=)	5160	PDHA1	Likely benign	2063173885	RCV002078800;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19371258	19371258	19371258	-
NM_000284.4(PDHA1):c.499G>C (p.Val167Leu)	5160	PDHA1	Uncertain significance	2063174067	RCV001779362;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19371280	19371280	19371280	-
NM_000284.4(PDHA1):c.501G>C (p.Val167=)	5160	PDHA1	Likely benign	2147178257	RCV002099451;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19371282	19371282	19371282	-
NM_000284.4(PDHA1):c.507G>A (p.Ala169=)	5160	PDHA1	Conflicting interpretations of pathogenicity	141862527	RCV000725565\|RCV001088476\|RCV001835752\|RCV002338844;	N	MedGen:C3661900\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243\|MeSH:D030342,MedGen:C0950123	X	19371288	19371288	X:g.19371288G>A	ClinGen:CA10363043	CN169374 not specified;
NM_000284.4(PDHA1):c.510+12C>T	5160	PDHA1	Benign	201869402	RCV000437755\|RCV002061460;	N	MedGen:CN169374\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19371303	19371303	X:g.19371303C>T	ClinGen:CA10363044	CN169374 not specified;
NM_000284.4(PDHA1):c.511-6_511-3dup	5160	PDHA1	Likely benign	2147179692	RCV002182144;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19372602	19372603	19372602	-
NM_000284.4(PDHA1):c.511-6T>C	5160	PDHA1	Likely benign	1438332782	RCV001469330;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19372603	19372603	19372603	-
NM_000284.4(PDHA1):c.511-5G>A	5160	PDHA1	Likely benign	2063182597	RCV001492912;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19372604	19372604	19372604	-
NM_000284.4(PDHA1):c.511G>T (p.Val171Leu)	5160	PDHA1	Uncertain significance	1602226867	RCV001028058;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19372609	19372609	X:g.19372609G>T	-
NM_000284.4(PDHA1):c.522C>T (p.Gly174=)	5160	PDHA1	Conflicting interpretations of pathogenicity	769308417	RCV001090049;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19372620	19372620	X:g.19372620C>T	-
NM_000284.4(PDHA1):c.531T>G (p.Ile177Met)	5160	PDHA1	Uncertain significance	2063182775	RCV001233682;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19372629	19372629	X:g.19372629T>G	-
NM_000284.4(PDHA1):c.535C>G (p.Leu179Val)	5160	PDHA1	Uncertain significance	2147179733	RCV001765311\|RCV002509694;	N	MedGen:C3661900\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19372633	19372633	19372633	-
NM_000284.4(PDHA1):c.536T>C (p.Leu179Pro)	5160	PDHA1	Uncertain significance	1555934165	RCV001364108;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19372634	19372634	19372634	-
NM_000284.4(PDHA1):c.548A>G (p.Tyr183Cys)	5160	PDHA1	Uncertain significance	2147179754	RCV002276278\|RCV002295376;	N	MedGen:C3661900\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19372646	19372646	19372646	-
NM_000284.4(PDHA1):c.558A>G (p.Lys186=)	5160	PDHA1	Likely benign	2147179763	RCV002206039;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19372656	19372656	19372656	-
NM_000284.4(PDHA1):c.567C>G (p.Val189=)	5160	PDHA1	Likely benign	-1	RCV003014125;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19372665	19372665		-
NM_000284.4(PDHA1):c.579A>G (p.Leu193=)	5160	PDHA1	Likely benign	2147179786	RCV002103772;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19372677	19372677	19372677	-
NM_000284.4(PDHA1):c.603+8T>G	5160	PDHA1	Likely benign	-1	RCV002947605;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19372709	19372709	NC_000023.10:g.19372709T>G	-
NM_000284.4(PDHA1):c.604-19T>G	5160	PDHA1	Likely benign	-1	RCV002608492;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373448	19373448	NC_000023.10:g.19373448T>G	-
NM_000284.4(PDHA1):c.604-15C>T	5160	PDHA1	Benign	13440874	RCV000127396\|RCV001522796;	N	MedGen:CN169374\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373452	19373452	X:g.19373452C>T	ClinGen:CA292720	CN169374 not specified;
NM_000284.4(PDHA1):c.604-14G>A	5160	PDHA1	Benign/Likely benign	377192586	RCV000443835\|RCV001815324\|RCV002521530;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373453	19373453	X:g.19373453G>A	ClinGen:CA10363072	CN169374 not specified;
NM_000284.4(PDHA1):c.604-10C>T	5160	PDHA1	Benign	201754585	RCV000197964\|RCV000963408;	N	MedGen:CN169374\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373457	19373457	X:g.19373457C>T	ClinGen:CA322434	CN169374 not specified;
NM_000284.4(PDHA1):c.604-8A>G	5160	PDHA1	Likely benign	2147180716	RCV001440182;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373459	19373459	19373459	-
NM_000284.4(PDHA1):c.615C>T (p.Phe205=)	5160	PDHA1	Likely benign	-1	RCV003093734;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373478	19373478		-
NM_000284.4(PDHA1):c.628A>G (p.Met210Val)	5160	PDHA1	Conflicting interpretations of pathogenicity	794727843	RCV000179743\|RCV002470795;	N	MedGen:CN517202\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373491	19373491	X:g.19373491A>G	ClinGen:CA247055,UniProtKB:P08559#VAR_004955	CN169374 not specified;
NM_000284.4(PDHA1):c.630G>T (p.Met210Ile)	5160	PDHA1	Uncertain significance	2147180753	RCV001775483;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373493	19373493	19373493	-
NM_000284.4(PDHA1):c.639G>A (p.Leu213=)	5160	PDHA1	Likely benign	2147180760	RCV002087908;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373502	19373502	19373502	-
NM_000284.4(PDHA1):c.653G>A (p.Cys218Tyr)	5160	PDHA1	Uncertain significance	-1	RCV002810656;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373516	19373516	NC_000023.10:g.19373516G>A	-
NM_000284.4(PDHA1):c.657T>C (p.Ile219=)	5160	PDHA1	Likely benign	778744930	RCV000982094;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373520	19373520	X:g.19373520T>C	-
NM_000284.4(PDHA1):c.660C>T (p.Phe220=)	5160	PDHA1	Conflicting interpretations of pathogenicity	745607005	RCV001166388\|RCV002365816;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MeSH:D030342,MedGen:C0950123	X	19373523	19373523	X:g.19373523C>T	-
NM_000284.4(PDHA1):c.663C>T (p.Ile221=)	5160	PDHA1	Likely benign	929262350	RCV002146590;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373526	19373526	19373526	-
NM_000284.4(PDHA1):c.672T>C (p.Asn224=)	5160	PDHA1	Likely benign	2147180826	RCV001447588;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373535	19373535	19373535	-
NM_000284.4(PDHA1):c.693G>A (p.Thr231=)	5160	PDHA1	Benign/Likely benign	138237215	RCV000437837\|RCV000916825\|RCV001828410\|RCV002318413\|RCV003437177;	N	MedGen:CN169374\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243\|MeSH:D030342,MedGen:C0950123\|MedGen:C3661900	X	19373556	19373556	X:g.19373556G>A	ClinGen:CA10363078	CN169374 not specified;
NM_000284.4(PDHA1):c.693G>T (p.Thr231=)	5160	PDHA1	Likely benign	138237215	RCV001448030;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373556	19373556	19373556	-
NM_000284.4(PDHA1):c.693G>C (p.Thr231=)	5160	PDHA1	Likely benign	138237215	RCV002168619;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373556	19373556	19373556	-
NM_000284.4(PDHA1):c.696T>C (p.Ser232=)	5160	PDHA1	Likely benign	764871850	RCV002190634;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373559	19373559	19373559	-
NM_000284.4(PDHA1):c.699T>C (p.Val233=)	5160	PDHA1	Likely benign	1279461531	RCV002128200;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373562	19373562	19373562	-
NM_000284.4(PDHA1):c.702G>A (p.Glu234=)	5160	PDHA1	Likely benign	1312669828	RCV002151353;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373565	19373565	19373565	-
NM_000284.4(PDHA1):c.707C>T (p.Ala236Val)	5160	PDHA1	Uncertain significance	863224145	RCV000822565;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373570	19373570	X:g.19373570C>T	-
NM_000284.4(PDHA1):c.708G>C (p.Ala236=)	5160	PDHA1	Likely benign	750307419	RCV001448901;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373571	19373571	19373571	-
NM_000284.4(PDHA1):c.708G>A (p.Ala236=)	5160	PDHA1	Benign	750307419	RCV001510579;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373571	19373571	19373571	-
NM_000284.4(PDHA1):c.708G>T (p.Ala236=)	5160	PDHA1	Likely benign	750307419	RCV002100304;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373571	19373571	19373571	-
NM_000284.4(PDHA1):c.717C>T (p.Ser239=)	5160	PDHA1	Likely benign	-1	RCV002722159;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373580	19373580		-
NM_000284.4(PDHA1):c.729C>T (p.Tyr243=)	5160	PDHA1	Likely benign	2147180937	RCV002130902;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373592	19373592	19373592	-
NM_000284.4(PDHA1):c.732G>A (p.Lys244=)	5160	PDHA1	Likely benign	2147180959	RCV001494188;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373595	19373595	19373595	-
NM_000284.4(PDHA1):c.734G>C (p.Arg245Thr)	5160	PDHA1	Uncertain significance	-1	RCV003030280;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373597	19373597	NC_000023.10:g.19373597G>C	-
NM_000284.4(PDHA1):c.756G>C (p.Leu252=)	5160	PDHA1	Likely benign	768600287	RCV001440973;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373619	19373619	19373619	-
NM_000284.4(PDHA1):c.756G>A (p.Leu252=)	5160	PDHA1	Likely benign	768600287	RCV002205299;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373619	19373619	19373619	-
NM_000284.4(PDHA1):c.759+8C>T	5160	PDHA1	Likely benign	1251981151	RCV001437818;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373630	19373630	19373630	-
NM_000284.4(PDHA1):c.759+9del	5160	PDHA1	Likely benign	1602227706	RCV001439113;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373631	19373631	X:g.19373631_19373631del	-
NM_000284.4(PDHA1):c.759+9A>G	5160	PDHA1	Benign	2643456	RCV001518906\|RCV001836436;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243	X	19373631	19373631	19373631	-
NM_000284.4(PDHA1):c.759+10C>G	5160	PDHA1	Benign	375488072	RCV000897720\|RCV001825807;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243	X	19373632	19373632	X:g.19373632C>G	-
NM_000284.4(PDHA1):c.759+26GGCCAA[4]	5160	PDHA1	Benign/Likely benign	11278403	RCV000482729\|RCV001548027\|RCV002063707;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373647	19373648	X:g.19373647_19373648insGGCCAA	ClinGen:CA10363092	CN169374 not specified;
NM_000284.4(PDHA1):c.759+26G>A	5160	PDHA1	Uncertain significance	1555934413	RCV000640505;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373648	19373648	X:g.19373648G>A	ClinGen:CA658799594	C1839413 312170 Pyruvate dehydrogenase E1-alpha deficiency;
NM_000284.4(PDHA1):c.759+26GGCCAA[2]	5160	PDHA1	Benign	11278403	RCV001511821\|RCV001673077\|RCV001826358;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MedGen:C3661900\|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243	X	19373648	19373653	19373647	-
NM_000284.4(PDHA1):c.759+34_759+45del	5160	PDHA1	Benign	11278403	RCV002159360;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373648	19373659	19373647	-
NM_000284.4(PDHA1):c.760-18T>G	5160	PDHA1	Likely benign	-1	RCV002711264;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373786	19373786	NC_000023.10:g.19373786T>G	-
NM_000284.4(PDHA1):c.760-15C>A	5160	PDHA1	Benign	7058209	RCV000078558\|RCV001166389;	N	MedGen:CN169374\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373789	19373789	X:g.19373789C>A	ClinGen:CA285339	CN169374 not specified;
NM_000284.4(PDHA1):c.760-12_760-9dup	5160	PDHA1	Likely benign	-1	RCV003093593;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373790	19373791	NC_000023.10:g.19373792_19373795dup	-
NM_000284.4(PDHA1):c.760-14_760-13del	5160	PDHA1	Benign	-1	RCV002640225;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373790	19373791	NC_000023.10:g.19373790_19373791del	-
NM_000284.4(PDHA1):c.760-13T>C	5160	PDHA1	Likely benign	-1	RCV002596412;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373791	19373791	NC_000023.10:g.19373791T>C	-
NM_000284.4(PDHA1):c.765T>C (p.Asp255=)	5160	PDHA1	Likely benign	1602227938	RCV000977290;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373809	19373809	X:g.19373809T>C	-
NM_000284.4(PDHA1):c.769A>G (p.Met257Val)	5160	PDHA1	Uncertain significance	-1	RCV003340744;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373813	19373813		-
NM_000284.4(PDHA1):c.780G>C (p.Leu260=)	5160	PDHA1	Likely benign	-1	RCV003016102;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373824	19373824		-
NM_000284.4(PDHA1):c.783C>T (p.Cys261=)	5160	PDHA1	Likely benign	1569191865	RCV001451247;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373827	19373827	19373827	-
NM_000284.4(PDHA1):c.784G>A (p.Val262Ile)	5160	PDHA1	Benign/Likely benign	202166915	RCV000190809\|RCV000960645\|RCV001721242;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MedGen:C3661900	X	19373828	19373828	X:g.19373828G>A	ClinGen:CA204901	C0950123 Inborn genetic diseases;
NM_000284.4(PDHA1):c.784G>T (p.Val262Phe)	5160	PDHA1	Uncertain significance	-1	RCV003050591;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373828	19373828	NC_000023.10:g.19373828G>T	-
NM_000284.4(PDHA1):c.790G>A (p.Glu264Lys)	5160	PDHA1	Uncertain significance	-1	RCV003036179\|RCV003223765;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MedGen:CN517202	X	19373834	19373834	NC_000023.10:g.19373834G>A	-
NM_000284.4(PDHA1):c.795A>G (p.Ala265=)	5160	PDHA1	Benign	1126565	RCV000078559\|RCV000676882\|RCV001166390\|RCV001271288\|RCV002311553;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243\|MeSH:D030342,MedGen:C0950123	X	19373839	19373839	X:g.19373839A>G	ClinGen:CA285340	CN517202 not provided;
NM_000284.4(PDHA1):c.798A>G (p.Thr266=)	5160	PDHA1	Benign/Likely benign	35752213	RCV000889181\|RCV001718860\|RCV001833520\|RCV002314156;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MedGen:C3661900\|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243\|MeSH:D030342,MedGen:C0950123	X	19373842	19373842	X:g.19373842A>G	ClinGen:CA10363117	CN169374 not specified;
NM_000284.4(PDHA1):c.807T>C (p.Ala269=)	5160	PDHA1	Likely benign	2063192689	RCV001200312\|RCV002069294;	N	MedGen:C3661900\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373851	19373851	X:g.19373851T>C	-
NM_000284.4(PDHA1):c.810T>G (p.Ala270=)	5160	PDHA1	Likely benign	763733376	RCV001412752;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373854	19373854	19373854	-
NM_000284.4(PDHA1):c.813C>T (p.Ala271=)	5160	PDHA1	Likely benign	1602228001	RCV000882077;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373857	19373857	X:g.19373857C>T	-
NM_000284.4(PDHA1):c.816T>C (p.Tyr272=)	5160	PDHA1	Likely benign	2147181545	RCV001477478;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373860	19373860	19373860	-
NM_000284.4(PDHA1):c.821G>C (p.Arg274Thr)	5160	PDHA1	Uncertain significance	2063192867	RCV001329772;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373865	19373865	19373865	-
NM_000284.4(PDHA1):c.828G>A (p.Gly276=)	5160	PDHA1	Likely benign	2147181559	RCV001439357;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373872	19373872	19373872	-
NM_000284.4(PDHA1):c.831+8T>G	5160	PDHA1	Likely benign	2147181572	RCV002082240;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373883	19373883	19373883	-
NM_000284.4(PDHA1):c.831+15C>T	5160	PDHA1	Benign	190157093	RCV000127399\|RCV001166392;	N	MedGen:CN169374\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19373890	19373890	X:g.19373890C>T	ClinGen:CA292721	CN169374 not specified;
NM_000284.4(PDHA1):c.832-7_832-4dup	5160	PDHA1	Likely benign	-1	RCV002725274;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19375761	19375762	NC_000023.10:g.19375763_19375766dup	-
NM_000284.4(PDHA1):c.832-6T>C	5160	PDHA1	Uncertain significance	2063212957	RCV001910177;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19375764	19375764	19375764	-
NM_000284.4(PDHA1):c.839T>G (p.Ile280Ser)	5160	PDHA1	Uncertain significance	1602229682	RCV000811945\|RCV001526402;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243	X	19375777	19375777	X:g.19375777T>G	-
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu)	5160	PDHA1	Benign	2229137	RCV000011632\|RCV000127400\|RCV000224670\|RCV001271289\|RCV002311510;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243\|MeSH:D030342,MedGen:C0950123	X	19375782	19375782	X:g.19375782A>C	ClinGen:CA121220,UniProtKB:P08559#VAR_021054,OMIM:300502.0015	CN517202 not provided;
NM_000284.4(PDHA1):c.852G>T (p.Leu284=)	5160	PDHA1	Likely benign	-1	RCV002800349;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19375790	19375790		-
NM_000284.4(PDHA1):c.854A>G (p.Gln285Arg)	5160	PDHA1	Uncertain significance	373275701	RCV000197779\|RCV001828028\|RCV002515420;	N	MedGen:CN517202\|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19375792	19375792	X:g.19375792A>G	ClinGen:CA322243	CN169374 not specified;
NM_000284.4(PDHA1):c.861C>T (p.Tyr287=)	5160	PDHA1	Likely benign	1057521179	RCV000422060\|RCV002521589;	N	MedGen:CN169374\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19375799	19375799	X:g.19375799C>T	ClinGen:CA16608806	CN169374 not specified;
NM_000284.4(PDHA1):c.867C>T (p.Tyr289=)	5160	PDHA1	Likely benign	1418512491	RCV001489398;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19375805	19375805	19375805	-
NM_000284.4(PDHA1):c.870C>T (p.His290=)	5160	PDHA1	Benign/Likely benign	761411007	RCV000980963\|RCV001276606\|RCV002372696;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243\|MeSH:D030342,MedGen:C0950123	X	19375808	19375808	X:g.19375808C>T	-
NM_000284.4(PDHA1):c.873A>T (p.Gly291=)	5160	PDHA1	Likely benign	1248347868	RCV002128848;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19375811	19375811	19375811	-
NM_000284.4(PDHA1):c.891T>C (p.Pro297=)	5160	PDHA1	Likely benign	2147184530	RCV001421451;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19375829	19375829	19375829	-
NM_000284.4(PDHA1):c.894A>G (p.Gly298=)	5160	PDHA1	Conflicting interpretations of pathogenicity	1329322647	RCV001166393\|RCV001826985;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243	X	19375832	19375832	X:g.19375832A>G	-
NM_000284.4(PDHA1):c.899+4C>T	5160	PDHA1	Conflicting interpretations of pathogenicity	749903004	RCV001468509\|RCV002561295;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MeSH:D030342,MedGen:C0950123	X	19375841	19375841	19375841	-
NM_000284.4(PDHA1):c.899+8C>T	5160	PDHA1	Likely benign	766362480	RCV001445395;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19375845	19375845	X:g.19375845C>T	-
NM_000284.4(PDHA1):c.899+9A>G	5160	PDHA1	Likely benign	751604605	RCV001426990;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19375846	19375846	X:g.19375846A>G	-
NM_000284.4(PDHA1):c.899+9A>C	5160	PDHA1	Likely benign	751604605	RCV002186995;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19375846	19375846	19375846	-
NM_000284.4(PDHA1):c.899+10T>C	5160	PDHA1	Benign	1471723235	RCV002118523;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19375847	19375847	19375847	-
NM_000284.4(PDHA1):c.899+12G>A	5160	PDHA1	Benign	376730441	RCV000127401\|RCV002055743;	N	MedGen:CN169374\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19375849	19375849	X:g.19375849G>A	ClinGen:CA292722	CN169374 not specified;
NM_000284.4(PDHA1):c.899+18G>A	5160	PDHA1	Benign	370785632	RCV000199164\|RCV002054336;	N	MedGen:CN169374\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19375855	19375855	X:g.19375855G>A	ClinGen:CA323702	CN169374 not specified;
NM_000284.4(PDHA1):c.900-10C>A	5160	PDHA1	Likely benign	370163447	RCV000439497\|RCV002059837;	N	MedGen:CN169374\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377024	19377024	X:g.19377024C>A	ClinGen:CA10363161	CN169374 not specified;
NM_000284.4(PDHA1):c.900-10C>T	5160	PDHA1	Likely benign	370163447	RCV001499847;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377024	19377024	19377024	-
NM_000284.4(PDHA1):c.900-4A>C	5160	PDHA1	Likely benign	1262041210	RCV002201875;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377030	19377030	19377030	-
NM_000284.4(PDHA1):c.900-4A>G	5160	PDHA1	Likely benign	-1	RCV002666964;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377030	19377030	NC_000023.10:g.19377030A>G	-
NM_000284.4(PDHA1):c.902_907del (p.Tyr301_Thr303delinsSer)	5160	PDHA1	Uncertain significance	2147187199	RCV002043630;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377036	19377041	19377035	-
NM_000284.4(PDHA1):c.903C>T (p.Tyr301=)	5160	PDHA1	Likely benign	1432211611	RCV001468296;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377037	19377037	19377037	-
NM_000284.4(PDHA1):c.907A>G (p.Thr303Ala)	5160	PDHA1	Uncertain significance	1602231489	RCV000850376;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377041	19377041	X:g.19377041A>G	-
NM_000284.4(PDHA1):c.946C>G (p.Pro316Ala)	5160	PDHA1	Uncertain significance	-1	RCV003330116;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377080	19377080		-
NM_000284.4(PDHA1):c.948T>A (p.Pro316=)	5160	PDHA1	Likely benign	759443348	RCV001436849;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377082	19377082	19377082	-
NM_000284.4(PDHA1):c.963_977dup (p.Lys321_Val325dup)	5160	PDHA1	Uncertain significance	2063233021	RCV001045143\|RCV001546396;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MedGen:CN517202	X	19377094	19377095	X:g.19377094_19377095insAAGGACAGGATGGTG	-
NM_000284.4(PDHA1):c.960C>T (p.Leu320=)	5160	PDHA1	Likely benign	-1	RCV003054820;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377094	19377094		-
NM_000284.4(PDHA1):c.966C>T (p.Asp322=)	5160	PDHA1	Likely benign	-1	RCV002814708;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377100	19377100		-
NM_000284.4(PDHA1):c.972G>A (p.Met324Ile)	5160	PDHA1	Uncertain significance	755945768	RCV001825436\|RCV001329774\|RCV002314515;	N	MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MeSH:D030342,MedGen:C0950123	X	19377106	19377106	NC_000023.10:g.19377106G>A	-
NM_000284.4(PDHA1):c.978C>T (p.Asn326=)	5160	PDHA1	Likely benign	779045292	RCV001470041;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377112	19377112	19377112	-
NM_000284.4(PDHA1):c.983A>G (p.Asn328Ser)	5160	PDHA1	Likely benign	758465753	RCV002088331;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377117	19377117	19377117	-
NM_000284.4(PDHA1):c.984T>C (p.Asn328=)	5160	PDHA1	Conflicting interpretations of pathogenicity	767503319	RCV000194225\|RCV000899471\|RCV001833137\|RCV002381655;	N	MedGen:CN169374\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243\|MeSH:D030342,MedGen:C0950123	X	19377118	19377118	NC_000023.10:g.19377118T>C	ClinGen:CA208258	CN169374 not specified;
NM_000284.4(PDHA1):c.998_1008+20dup	5160	PDHA1	Uncertain significance	2063233544	RCV001197847;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377128	19377129	X:g.19377128_19377129insTGGAAGAACTAAAGGTACAGTCACTTGTTCA	-
NM_000284.4(PDHA1):c.999A>C (p.Glu333Asp)	5160	PDHA1	Benign	2228067	RCV000434853\|RCV000883866\|RCV001526401\|RCV002314157;	N	MedGen:CN169374\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243\|MeSH:D030342,MedGen:C0950123	X	19377133	19377133	X:g.19377133A>C	ClinGen:CA10363173	CN169374 not specified;
NM_000284.4(PDHA1):c.1008+6_1008+9dup	5160	PDHA1	Likely benign	2147187465	RCV002121245;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377145	19377146	19377145	-
NM_000284.4(PDHA1):c.1008+6_1008+28dup	5160	PDHA1	Likely benign	1455097408	RCV002112850;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377146	19377147	19377146	-
NM_000284.4(PDHA1):c.1008+6_1008+14dup	5160	PDHA1	Likely benign	2147187474	RCV002204471;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377147	19377148	19377147	-
NM_000284.4(PDHA1):c.1008+7T>G	5160	PDHA1	Benign	768994523	RCV002132566;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377149	19377149	19377149	-
NM_000284.4(PDHA1):c.1008+9_1008+17dup	5160	PDHA1	Likely benign	1569193552	RCV002214752;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377150	19377151	19377150	-
NM_000284.4(PDHA1):c.1008+9_1008+18dup	5160	PDHA1	Likely benign	-1	RCV002881452;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377150	19377151	NC_000023.10:g.19377151_19377160dup	-
NM_000284.4(PDHA1):c.1008+17A>G	5160	PDHA1	Likely benign	-1	RCV003026713;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377159	19377159	NC_000023.10:g.19377159A>G	-
NM_000284.4(PDHA1):c.1008+18T>C	5160	PDHA1	Likely benign	-1	RCV002751398;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377160	19377160	NC_000023.10:g.19377160T>C	-
NM_000284.4(PDHA1):c.1009-31_1009-7del	5160	PDHA1	Likely benign	1569193972	RCV001416698;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377575	19377599	19377574	-
NM_000284.4(PDHA1):c.1009-28_1009-8del	5160	PDHA1	Likely benign	2147188873	RCV002187570;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377577	19377597	19377576	-
NM_000284.4(PDHA1):c.1009-17_1009-14dup	5160	PDHA1	Benign	1569193999	RCV002119535;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377589	19377590	19377589	-
NM_000284.4(PDHA1):c.1009-18_1009-10del	5160	PDHA1	Likely benign	-1	RCV002659223;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377589	19377597	NC_000023.10:g.19377589_19377597del	-
NM_000284.4(PDHA1):c.1009-9_1009-6dup	5160	PDHA1	Likely benign	-1	RCV003071309;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377596	19377597	NC_000023.10:g.19377598_19377601dup	-
NM_000284.4(PDHA1):c.1009-9A>C	5160	PDHA1	Benign	372177460	RCV001517658;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377598	19377598	19377598	-
NM_000284.4(PDHA1):c.1010A>C (p.Glu337Ala)	5160	PDHA1	Uncertain significance	-1	RCV002780225;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377608	19377608	NC_000023.10:g.19377608A>C	-
NM_000284.4(PDHA1):c.1014_1034dup (p.Lys344_Glu345insAspAspValGluValArgLys)	5160	PDHA1	Uncertain significance	2063244761	RCV001199066;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377611	19377612	X:g.19377611_19377612insTGATGTGGAAGTGAGGAAGGA	-
NM_000284.4(PDHA1):c.1021G>C (p.Glu341Gln)	5160	PDHA1	Uncertain significance	-1	RCV002761517;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377619	19377619	NC_000023.10:g.19377619G>C	-
NM_000284.4(PDHA1):c.1033_1035dup (p.Glu345_Ile346insGlu)	5160	PDHA1	Uncertain significance	-1	RCV002293397;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377628	19377629	19377628	-
NM_000284.4(PDHA1):c.1031A>G (p.Lys344Arg)	5160	PDHA1	Uncertain significance	1244401639	RCV001063202\|RCV001271290;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243	X	19377629	19377629	X:g.19377629A>G	-
NM_000284.4(PDHA1):c.1035G>T (p.Glu345Asp)	5160	PDHA1	Uncertain significance	-1	RCV003093243;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377633	19377633	NC_000023.10:g.19377633G>T	-
NM_000284.4(PDHA1):c.1038T>C (p.Ile346=)	5160	PDHA1	Likely benign	2147189069	RCV001459322;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377636	19377636	19377636	-
NM_000284.4(PDHA1):c.1045G>A (p.Ala349Thr)	5160	PDHA1	Conflicting interpretations of pathogenicity	886044701	RCV000407596\|RCV003225059;	N	MedGen:CN517202\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377643	19377643	X:g.19377643G>A	ClinGen:CA10607080	CN169374 not specified;
NM_000284.4(PDHA1):c.1050C>T (p.Ala350=)	5160	PDHA1	Likely benign	2147189097	RCV002166306;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377648	19377648	19377648	-
NM_000284.4(PDHA1):c.1062G>T (p.Thr354=)	5160	PDHA1	Benign/Likely benign	147510382	RCV000937027\|RCV001826976\|RCV002409231;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243\|MeSH:D030342,MedGen:C0950123	X	19377660	19377660	X:g.19377660G>T	-
NM_000284.4(PDHA1):c.1065C>T (p.Ala355=)	5160	PDHA1	Benign	749696135	RCV002122937;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377663	19377663	19377663	-
NM_000284.4(PDHA1):c.1066G>A (p.Asp356Asn)	5160	PDHA1	Uncertain significance	770669838	RCV001941350;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377664	19377664	19377664	-
NM_000284.4(PDHA1):c.1083G>A (p.Leu361=)	5160	PDHA1	Likely benign	745312753	RCV002120060;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377681	19377681	19377681	-
NM_000284.4(PDHA1):c.1091T>G (p.Leu364Arg)	5160	PDHA1	Uncertain significance	-1	RCV002470491;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377689	19377689	NC_000023.10:g.19377689T>G	-
NM_000284.4(PDHA1):c.1099C>T (p.His367Tyr)	5160	PDHA1	Likely benign	1602232961	RCV001391829;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377697	19377697	X:g.19377697C>T	-
NM_000284.4(PDHA1):c.1103_1108dup (p.Tyr369_Ser370insPheTyr)	5160	PDHA1	Uncertain significance	-1	RCV003110144;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377700	19377701	NC_000023.10:g.19377701_19377706dup	-
NM_000284.4(PDHA1):c.1109_1122del (p.Ser370fs)	5160	PDHA1	Uncertain significance	-1	RCV002284015;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377705	19377718	19377704	-
NM_000284.4(PDHA1):c.1110C>A (p.Ser370=)	5160	PDHA1	Likely benign	775280711	RCV000944426;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377708	19377708	X:g.19377708C>A	-
NM_000284.4(PDHA1):c.1113C>T (p.Ser371=)	5160	PDHA1	Benign/Likely benign	773338429	RCV001512707\|RCV003438851;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MedGen:C3661900	X	19377711	19377711	19377711	-
NM_000284.4(PDHA1):c.1114G>A (p.Asp372Asn)	5160	PDHA1	Benign/Likely benign	199879809	RCV000907000\|RCV001276607\|RCV001573190\|RCV002434203;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	X	19377712	19377712	X:g.19377712G>A	-
NM_000284.4(PDHA1):c.1117_1128del (p.Pro373_Glu376del)	5160	PDHA1	Uncertain significance	1602233040	RCV000816048;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377715	19377726	X:g.19377715_19377726del	-
NM_000284.4(PDHA1):c.1143T>G (p.Asn381Lys)	5160	PDHA1	Uncertain significance	-1	RCV003444409;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377741	19377741		-
NM_000284.4(PDHA1):c.1146G>A (p.Gln382=)	5160	PDHA1	Likely benign	767675495	RCV001200313\|RCV001476219;	N	MedGen:C3661900\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377744	19377744	X:g.19377744G>A	-
NM_000284.4(PDHA1):c.1159_1164dup (p.Ser388_Val389insLysSer)	5160	PDHA1	Uncertain significance	-1	RCV003330307;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377756	19377757		-
NM_000284.4(PDHA1):c.1159A>C (p.Lys387Gln)	5160	PDHA1	Conflicting interpretations of pathogenicity	201156613	RCV000200467\|RCV001079335\|RCV002363013;	N	MedGen:C3661900\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MeSH:D030342,MedGen:C0950123	X	19377757	19377757	NC_000023.10:g.19377757A>C	ClinGen:CA325044	CN169374 not specified;
NM_000284.4(PDHA1):c.1170T>C (p.Ser390=)	5160	PDHA1	Benign	369973813	RCV001516516;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377768	19377768	19377768	-
NM_000284.4(PDHA1):c.1173_*5del (p.Ter391Xaa)	5160	PDHA1	Conflicting interpretations of pathogenicity	762505127	RCV000481535\|RCV000887200\|RCV001704633\|RCV001834564;	N	MedGen:CN169374\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MedGen:CN517202\|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243	X	19377770	19377775	NC_000023.10:g.19377771_19377776del	ClinGen:CA10363224	CN169374 not specified;
NM_000284.4(PDHA1):c.3_13del (p.Ter391=)	5160	PDHA1	Conflicting interpretations of pathogenicity	764728647	RCV001511662\|RCV001531136;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MedGen:C3661900	X	19377770	19377780	19377769	-
NM_000284.4(PDHA1):c.10_12del	5160	PDHA1	Conflicting interpretations of pathogenicity	752082232	RCV000483624\|RCV003139684;	N	MedGen:CN169374\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377779	19377781	NC_000023.10:g.19377781_19377783del	ClinGen:CA10363227	CN169374 not specified;
NM_000284.4(PDHA1):c.*110C>T	5160	PDHA1	Benign	709610	RCV001166394\|RCV001712865\|RCV001828582;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MedGen:C3661900\|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170, Orphanet:765, Orphanet:79243	X	19377881	19377881	X:g.19377881C>T	-
NM_000284.4(PDHA1):c.*198G>A	5160	PDHA1	Uncertain significance	1003909173	RCV001166911;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19377969	19377969	X:g.19377969G>A	-
NM_000284.4(PDHA1):c.*319G>T	5160	PDHA1	Benign	1042449	RCV001166912;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19378090	19378090	X:g.19378090G>T	-
NM_000284.4(PDHA1):c.*321C>T	5160	PDHA1	Uncertain significance	886566327	RCV001166913;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19378092	19378092	X:g.19378092C>T	-
NM_000284.4(PDHA1):c.*322G>A	5160	PDHA1	Benign	1042450	RCV001166914;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19378093	19378093	X:g.19378093G>A	-
NM_000284.4(PDHA1):c.*349A>G	5160	PDHA1	Uncertain significance	1013526559	RCV001166915;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19378120	19378120	X:g.19378120A>G	-
NM_000284.4(PDHA1):c.*392G>A	5160	PDHA1	Benign	56318063	RCV001166916;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19378163	19378163	X:g.19378163G>A	-
NM_000284.4(PDHA1):c.*525C>G	5160	PDHA1	Benign	778207227	RCV001166918;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19378296	19378296	X:g.19378296C>G	-
NM_000284.4(PDHA1):c.*575T>C	5160	PDHA1	Conflicting interpretations of pathogenicity	191995452	RCV001168626\|RCV003438708;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243\|MedGen:C3661900	X	19378346	19378346	X:g.19378346T>C	-
NM_000284.4(PDHA1):c.*614G>T	5160	PDHA1	Benign	5955761	RCV001168627;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19378385	19378385	X:g.19378385G>T	-
NM_000284.4(PDHA1):c.*707G>A	5160	PDHA1	Benign	150945967	RCV001168628;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19378478	19378478	X:g.19378478G>A	-
NM_000284.4(PDHA1):c.*728C>T	5160	PDHA1	Benign	1042452	RCV001168629;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19378499	19378499	X:g.19378499C>T	-
NM_000284.4(PDHA1):c.*729G>A	5160	PDHA1	Uncertain significance	376808450	RCV001168630;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19378500	19378500	X:g.19378500G>A	-
NM_000284.4(PDHA1):c.*844A>G	5160	PDHA1	Benign	1042453	RCV001168631;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19378615	19378615	X:g.19378615A>G	-
NM_000284.4(PDHA1):c.*857A>G	5160	PDHA1	Benign	182836908	RCV001168632;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19378628	19378628	X:g.19378628A>G	-
NM_000284.4(PDHA1):c.*864G>A	5160	PDHA1	Benign	192450087	RCV001169390;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19378635	19378635	X:g.19378635G>A	-
NM_000284.4(PDHA1):c.*1013C>A	5160	PDHA1	Benign	1042456	RCV001169391;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19378784	19378784	X:g.19378784C>A	-
NM_000284.4(PDHA1):c.*1059G>A	5160	PDHA1	Benign	15816	RCV001169392;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19378830	19378830	X:g.19378830G>A	-
NM_000284.4(PDHA1):c.*1208A>C	5160	PDHA1	Benign	369499936	RCV001169393;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19378979	19378979	X:g.19378979A>C	-
NM_000284.4(PDHA1):c.*1297G>A	5160	PDHA1	Uncertain significance	778678656	RCV001169394;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19379068	19379068	X:g.19379068G>A	-
NM_000284.4(PDHA1):c.*1306G>A	5160	PDHA1	Uncertain significance	745566169	RCV001169395;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19379077	19379077	X:g.19379077G>A	-
NM_000284.4(PDHA1):c.*1345A>G	5160	PDHA1	Benign	193253848	RCV001169396;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19379116	19379116	X:g.19379116A>G	-
NM_000284.4(PDHA1):c.*1347C>T	5160	PDHA1	Uncertain significance	1241045421	RCV001169397;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19379118	19379118	X:g.19379118C>T	-
NM_000284.4(PDHA1):c.*1376C>T	5160	PDHA1	Uncertain significance	963546680	RCV001166445;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19379147	19379147	X:g.19379147C>T	-
NM_000284.4(PDHA1):c.*1377G>A	5160	PDHA1	Benign	56039350	RCV001166446;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19379148	19379148	X:g.19379148G>A	-
NM_000284.4(PDHA1):c.*1394C>T	5160	PDHA1	Benign	55856360	RCV001166447;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19379165	19379165	X:g.19379165C>T	-
NM_000284.4(PDHA1):c.*1450C>T	5160	PDHA1	Benign	747229060	RCV001166448;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19379221	19379221	X:g.19379221C>T	-
NM_000284.4(PDHA1):c.*1458C>T	5160	PDHA1	Uncertain significance	923765752	RCV001166449;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19379229	19379229	X:g.19379229C>T	-
NM_000284.4(PDHA1):c.*1563C>G	5160	PDHA1	Benign	7883708	RCV001166450;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19379334	19379334	X:g.19379334C>G	-
NM_000284.4(PDHA1):c.*1598G>C	5160	PDHA1	Benign	11094770	RCV001166451;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19379369	19379369	X:g.19379369G>C	-
NM_000284.4(PDHA1):c.*1624T>C	5160	PDHA1	Uncertain significance	2063283398	RCV001166452;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19379395	19379395	X:g.19379395T>C	-
NM_000284.4(PDHA1):c.*1682T>C	5160	PDHA1	Benign	55744630	RCV001166979;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19379453	19379453	X:g.19379453T>C	-
NM_000284.4(PDHA1):c.*1779A>T	5160	PDHA1	Uncertain significance	758279534	RCV001166980;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19379550	19379550	X:g.19379550A>T	-
NM_000284.4(PDHA1):c.*1869G>C	5160	PDHA1	Benign	15943	RCV000430059\|RCV001166981;	N	MedGen:C3661900\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19379640	19379640	X:g.19379640G>C	ClinGen:CA10363348	CN517202 not provided;
NM_000284.4(PDHA1):c.*1926G>C	5160	PDHA1	Likely benign	778062708	RCV001166982;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	X	19379697	19379697	X:g.19379697G>C	-
NM_003477.2(PDHX):c.-197delT	8050	PDHX	Likely pathogenic	1158194122	RCV000721986;	N	MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	11	34938006	34938006	NC_000011.9:g.34938006del	-
NM_003477.3(PDHX):c.976G>C (p.Val326Leu)	8050	PDHX	Benign/Likely benign	35560997	RCV000127418\|RCV000224806\|RCV001000245\|RCV000988526;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009503,MedGen:C1855553,OMIM:245349, Orphanet:255182\|MONDO:MONDO:0010717,MedGen:C1839413,OMIM:312170, Orphanet:79243	11	34999682	34999682	11:g.34999682G>C	ClinGen:CA292751	CN517202 not provided;