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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, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Acidosis, Lactic (D000140)
Parent Node: Pyruvate Dehydrogenase Complex Deficiency Disease (D015325)
..Starting node ..Pyruvate Dehydrogenase E2 Deficiency (C565448)
Child Nodes:
Sister Nodes:
..Phosphoenolpyruvate carboxykinase 2 deficiency (C536655) L: 00046;
..Pyruvate Dehydrogenase E1-Beta Deficiency (C566729) L: 00478;
..Pyruvate Dehydrogenase E2 Deficiency (C565448) L: 00475;
..Pyruvate Dehydrogenase E3-Binding Protein Deficiency (C565447)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

10502

Name:

Pyruvate Dehydrogenase E2 Deficiency

Definition:

Alternative IDs:

OMIM:245348

ParentIDs:

MESH:D000140|MESH:D015325

TreeNumbers:

C10.228.140.163.100.750/C565448 |C10.597.606.360.455.875/C565448 |C16.320.322.500.875/C565448 |C16.320.400.525.875/C565448 |C16.320.565.189.750/C565448 |C16.320.565.202.810.766/C565448 |C18.452.076.176.180/C565448 |C18.452.132.100.750/C565448 |C18.452.648.189.75

Synonyms:

Lactic Acidemia due to Defect of E2 Lipoyl Transacetylase of the Pyruvate Dehydrogenase Complex |PDHDD

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Nervous system disease

Reference:

MedGen: C565448
MeSH: C565448
OMIM: 245348;
MSeqDR : 00475;
Genes: DLAT;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0001251	Ataxia
4	HP:0001266	Choreoathetosis
5	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
6	HP:0002194	Delayed gross motor development NAMDC: Gross motor delay
7	HP:0002307	Drooling
8	HP:0001263	Global developmental delay NAMDC: Mental retardation
9	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
10	HP:0001347	Hyperreflexia NAMDC: Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
11	HP:0001256	Intellectual disability, mild
12	HP:0006961	Jerky head movements
13	HP:0003128	Lactic acidosis
14	HP:0000252	Microcephaly
15	HP:0001319	Neonatal hypotonia NAMDC: Floppy baby
16	HP:0000639	Nystagmus
17	HP:0000657	Oculomotor apraxia
18	HP:0002268	Paroxysmal dystonia
19	HP:0002465	Poor speech
20	HP:0000508	Ptosis NAMDC: Ptosis

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000011.9:g.(?_111896177)_(111922093_?)del	1737	DLAT	Uncertain significance	-1	RCV001032587;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111896177	111922093	-1	-
NC_000011.9:g.(?_111896197)_(111922093_?)dup	1737	DLAT	Uncertain significance	-1	RCV001968495;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111896197	111922093	-1	-
NC_000011.9:g.(?_111896197)_(111899689_?)del	1737	DLAT	Uncertain significance	-1	RCV003107557;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111896197	111899689		-
NM_001931.5(DLAT):c.32A>C (p.Asn11Thr)	1737	DLAT	Uncertain significance	rs1035034726	RCV001043817;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111896228	111896228	11:g.111896228A>C	-
NM_001931.5(DLAT):c.46G>A (p.Ala16Thr)	1737	DLAT	Benign	rs150145390	RCV000124680\|RCV000904667;	N	MedGen:CN169374\|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111896242	111896242	NC_000011.9:g.111896242G>A	ClinGen:CA290590	CN169374 not specified;
NM_001931.5(DLAT):c.54C>A (p.Leu18=)	1737	DLAT	Likely benign	-1	RCV001485841;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111896250	111896250	111896250	-
NM_001931.5(DLAT):c.55G>C (p.Glu19Gln)	1737	DLAT	Benign	rs61757217	RCV000124681\|RCV000676202\|RCV001001506;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111896251	111896251	11:g.111896251G>C	ClinGen:CA290592	CN517202 not provided;
NM_001931.5(DLAT):c.98G>A (p.Arg33Gln)	1737	DLAT	Uncertain significance	-1	RCV001991053;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111896294	111896294	111896294	-
NM_001931.5(DLAT):c.109C>G (p.Arg37Gly)	1737	DLAT	Likely benign	-1	RCV001939439;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111896305	111896305	111896305	-
NM_001931.5(DLAT):c.128C>T (p.Ala43Val)	1737	DLAT	Benign	rs2303436	RCV000116877\|RCV000676203\|RCV001510014;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111896324	111896324	11:g.111896324C>T	ClinGen:CA152574,UniProtKB:P10515#VAR_047410	CN517202 not provided;
NM_001931.5(DLAT):c.144G>A (p.Val48=)	1737	DLAT	Likely benign	rs367745211	RCV000642191;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111896340	111896340	NC_000011.9:g.111896340G>A	ClinGen:CA477041116	C1855565 245348 Pyruvate dehydrogenase E2 deficiency;
NM_001931.5(DLAT):c.160G>T (p.Gly54Trp)	1737	DLAT	Uncertain significance	-1	RCV001937145;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111896356	111896356	111896356	-
NM_001931.5(DLAT):c.167G>C (p.Arg56Pro)	1737	DLAT	Uncertain significance	rs782260343	RCV000994723\|RCV002549880\|RCV003117669;	N	MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111896363	111896363	11:g.111896363G>C	-
NM_001931.5(DLAT):c.169G>T (p.Ala57Ser)	1737	DLAT	Uncertain significance	-1	RCV003006111;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111896365	111896365	NC_000011.9:g.111896365G>T	-
NM_001931.5(DLAT):c.177C>T (p.Cys59=)	1737	DLAT	Likely benign	rs150994149	RCV001697903\|RCV002065341;	N	MedGen:CN517202\|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111896373	111896373	11:g.111896373C>T	ClinGen:CA6276540	CN169374 not specified;
NM_001931.5(DLAT):c.188C>T (p.Pro63Leu)	1737	DLAT	Uncertain significance	-1	RCV003075920;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111896384	111896384	NC_000011.9:g.111896384C>T	-
NM_001931.5(DLAT):c.222G>A (p.Leu74_Leu75=)	1737	DLAT	Likely benign	-1	RCV002634483;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111896418	111896418	NC_000011.9:g.111896418G>A	-
NM_001931.5(DLAT):c.240G>A (p.Ser80=)	1737	DLAT	Likely benign	rs587735788	RCV000609491\|RCV002062962;	N	MedGen:CN169374\|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111896436	111896436	11:g.111896436G>A	ClinGen:CA6276559	CN169374 not specified;
NM_001931.5(DLAT):c.252C>T (p.Arg84=)	1737	DLAT	Likely benign	-1	RCV002171519;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111896448	111896448	111896448	-
NM_001931.5(DLAT):c.253T>C (p.Tyr85His)	1737	DLAT	Uncertain significance	-1	RCV001950068;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111896449	111896449	111896449	-
NM_001931.5(DLAT):c.253T>G (p.Tyr85Asp)	1737	DLAT	Uncertain significance	-1	RCV002736836;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111896449	111896449	NC_000011.9:g.111896449T>G	-
NM_001931.5(DLAT):c.265C>A (p.Pro89Thr)	1737	DLAT	Uncertain significance	-1	RCV003146098;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111896461	111896461	NC_000011.9:g.111896461C>A	-
NM_001931.5(DLAT):c.267C>A (p.Pro89=)	1737	DLAT	Likely benign	-1	RCV002179203;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111896463	111896463	111896463	-
NM_001931.5(DLAT):c.279+18dup	1737	DLAT	Benign	-1	RCV002904107;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111896487	111896488	NC_000011.9:g.111896493dup	-
NM_001931.5(DLAT):c.279+13C>A	1737	DLAT	Likely benign	rs187974706	RCV000422967\|RCV002062565;	N	MedGen:CN169374\|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111896488	111896488	11:g.111896488C>A	ClinGen:CA6276579	CN169374 not specified;
NM_001931.5(DLAT):c.280-15C>T	1737	DLAT	Likely benign	-1	RCV002155480;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111896907	111896907	111896907	-
NM_001931.5(DLAT):c.306A>G (p.Thr102=)	1737	DLAT	Likely benign	-1	RCV002145285;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111896948	111896948	111896948	-
NM_001931.5(DLAT):c.318C>A (p.Gly106=)	1737	DLAT	Likely benign	rs201070254	RCV000901088\|RCV001466689;	N	MedGen:CN517202\|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111896960	111896960	11:g.111896960C>A	ClinGen:CA6276606	C0034345 Pyruvate dehydrogenase complex deficiency;
NM_001931.5(DLAT):c.325G>A (p.Ala109Thr)	1737	DLAT	Uncertain significance	-1	RCV001908510;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111896967	111896967	111896967	-
NM_001931.5(DLAT):c.343G>A (p.Glu115Lys)	1737	DLAT	Uncertain significance	rs200147835	RCV001345626;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111896985	111896985	111896985	-
NM_001931.5(DLAT):c.355A>G (p.Ile119Val)	1737	DLAT	Uncertain significance	rs1555179245	RCV000642190;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111896997	111896997	11:g.111896997A>G	ClinGen:CA382598011	C1855565 245348 Pyruvate dehydrogenase E2 deficiency;
NM_001931.5(DLAT):c.362_364del (p.Glu121del)	1737	DLAT	Pathogenic	-1	RCV000002190;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111897003	111897005	111897002	OMIM:608770.0001
NM_001931.5(DLAT):c.372A>C (p.Leu124=)	1737	DLAT	Likely benign	-1	RCV001430730;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111897014	111897014	111897014	-
NM_001931.5(DLAT):c.381+5_381+6insC	1737	DLAT	Uncertain significance	-1	RCV001913653;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111897028	111897029	111897028	-
NM_001931.4(DLAT):c.381+22delT	1737	DLAT	Benign/Likely benign	rs5794771	RCV000625085\|RCV000676204;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244\|MedGen:CN517202	11	111897029	111897029	NC_000011.9:g.111897045del	ClinGen:CA6276621	CN517202 not provided;
NM_001931.5(DLAT):c.381+6T>G	1737	DLAT	Uncertain significance	-1	RCV001957604;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111897029	111897029	111897029	-
NM_001931.5(DLAT):c.381+7T>A	1737	DLAT	Likely benign	-1	RCV002090436;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111897030	111897030	111897030	-
NM_001931.5(DLAT):c.381+8T>G	1737	DLAT	Likely benign	-1	RCV002168332;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111897031	111897031	111897031	-
NM_001931.5(DLAT):c.381+9T>G	1737	DLAT	Likely benign	-1	RCV002116884;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111897032	111897032	111897032	-
NM_001931.5(DLAT):c.381+12_381+13insG	1737	DLAT	Likely benign	-1	RCV002146400;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111897035	111897036	111897035	-
NM_001931.5(DLAT):c.382-16C>T	1737	DLAT	Likely benign	-1	RCV002962784;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111899223	111899223	NC_000011.9:g.111899223C>T	-
NM_001931.5(DLAT):c.382G>A (p.Val128Ile)	1737	DLAT	Conflicting interpretations of pathogenicity	rs144677434	RCV000732667\|RCV001327355;	N	MedGen:CN517202\|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111899239	111899239	NC_000011.9:g.111899239G>A	-
NM_001931.5(DLAT):c.396dup (p.Ala133fs)	1737	DLAT	Uncertain significance	rs782173047	RCV000778303;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111899250	111899251	NC_000011.9:g.111899253dup	-
NM_001931.5(DLAT):c.402T>C (p.Thr134=)	1737	DLAT	Likely benign	rs886047693	RCV002785478;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111899259	111899259	NC_000011.9:g.111899259T>C	-
NM_001931.5(DLAT):c.412G>T (p.Glu138Ter)	1737	DLAT	Pathogenic	rs781991355	RCV002633576;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111899269	111899269	NC_000011.9:g.111899269G>T	-
NM_001931.5(DLAT):c.417C>T (p.Ser139=)	1737	DLAT	Likely benign	-1	RCV002163827;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111899274	111899274	111899274	-
NM_001931.5(DLAT):c.436G>A (p.Ala146Thr)	1737	DLAT	Uncertain significance	-1	RCV001931286;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111899293	111899293	111899293	-
NM_001931.5(DLAT):c.470T>G (p.Val157Gly)	1737	DLAT	Likely pathogenic	rs797044957	RCV000190817\|RCV000767878;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111899327	111899327	11:g.111899327T>G	ClinGen:CA204916,OMIM:608770.0003	C0950123 Inborn genetic diseases;
NM_001931.5(DLAT):c.478G>A (p.Gly160Arg)	1737	DLAT	Uncertain significance	-1	RCV003061245;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111899335	111899335	NC_000011.9:g.111899335G>A	-
NM_001931.5(DLAT):c.482C>T (p.Ala161Val)	1737	DLAT	Uncertain significance	-1	RCV002584133;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111899339	111899339	NC_000011.9:g.111899339C>T	-
NM_001931.5(DLAT):c.489C>T (p.Ile163_Cys164=)	1737	DLAT	Likely benign	-1	RCV002976225;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111899346	111899346	NC_000011.9:g.111899346C>T	-
NM_001931.5(DLAT):c.506+9T>C	1737	DLAT	Likely benign	-1	RCV002088633;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111899372	111899372	111899372	-
NM_001931.5(DLAT):c.506+11C>T	1737	DLAT	Benign	rs77846695	RCV000124683\|RCV001519937;	N	MedGen:CN169374\|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111899374	111899374	NC_000011.9:g.111899374C>T	ClinGen:CA290596	CN169374 not specified;
NM_001931.5(DLAT):c.506+12G>A	1737	DLAT	Likely benign	rs372355218	RCV000444820\|RCV002056172;	N	MedGen:CN169374\|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111899375	111899375	11:g.111899375G>A	ClinGen:CA6276679	CN169374 not specified;
NM_001931.5(DLAT):c.507-12T>G	1737	DLAT	Likely benign	-1	RCV002092523;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111899504	111899504	111899504	-
NM_001931.5(DLAT):c.510T>A (p.Pro170=)	1737	DLAT	Uncertain significance	-1	RCV001365666;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111899519	111899519	111899519	-
NM_001931.5(DLAT):c.561_584dup (p.Pro197_Ala198insGlnAlaAlaProAlaProThrPro)	1737	DLAT	Uncertain significance	-1	RCV003060233;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111899562	111899563	NC_000011.9:g.111899570_111899593dup	-
NM_001931.5(DLAT):c.563C>A (p.Thr188Asn)	1737	DLAT	Uncertain significance	-1	RCV003060911;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111899572	111899572	NC_000011.9:g.111899572C>A	-
NM_001931.5(DLAT):c.570A>G (p.Gln190=)	1737	DLAT	Benign/Likely benign	rs143107853	RCV000124684\|RCV000603990;	N	MedGen:CN169374\|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111899579	111899579	11:g.111899579A>G	ClinGen:CA290597	CN169374 not specified;
NM_001931.5(DLAT):c.572C>T (p.Ala191Val)	1737	DLAT	Conflicting interpretations of pathogenicity	rs200500508	RCV000198635\|RCV000660430;	N	MedGen:CN169374\|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111899581	111899581	NC_000011.9:g.111899581C>T	ClinGen:CA323171	CN169374 not specified;
NM_001931.5(DLAT):c.577C>G (p.Pro193Ala)	1737	DLAT	Uncertain significance	-1	RCV001934257;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111899586	111899586	111899586	-
NM_001931.5(DLAT):c.583C>T (p.Pro195Ser)	1737	DLAT	Conflicting interpretations of pathogenicity	rs149440666	RCV000200505\|RCV001531762\|RCV002517207;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111899592	111899592	NC_000011.9:g.111899592C>T	ClinGen:CA325087	CN169374 not specified;
NM_001931.5(DLAT):c.605C>T (p.Ser202Leu)	1737	DLAT	Uncertain significance	-1	RCV003079007;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111899614	111899614	NC_000011.9:g.111899614C>T	-
NM_001931.5(DLAT):c.606G>A (p.Ser202=)	1737	DLAT	Likely benign	rs148153443	RCV001653160\|RCV002073056;	N	MedGen:CN517202\|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111899615	111899615	NC_000011.9:g.111899615G>A	-	C0034345 Pyruvate dehydrogenase complex deficiency;
NM_001931.5(DLAT):c.626A>G (p.Gln209Arg)	1737	DLAT	Benign	rs11553595	RCV000124685\|RCV000676206\|RCV001001507;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111899635	111899635	11:g.111899635A>G	ClinGen:CA290599,UniProtKB:P10515#VAR_047413	CN517202 not provided;
NM_001931.5(DLAT):c.628G>A (p.Ala210Thr)	1737	DLAT	Likely benign	rs140678772	RCV000196247\|RCV001086390;	N	MedGen:CN517202\|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111899637	111899637	11:g.111899637G>A	ClinGen:CA320670	CN169374 not specified;
NM_001931.5(DLAT):c.635G>A (p.Gly212Asp)	1737	DLAT	Uncertain significance	-1	RCV002962262;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111899644	111899644	NC_000011.9:g.111899644G>A	-
NM_001931.5(DLAT):c.654C>T (p.His218=)	1737	DLAT	Likely benign	rs1472423442	RCV002544468;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111899663	111899663	11:g.111899663C>T	-
NM_001931.5(DLAT):c.675C>T (p.Ala225=)	1737	DLAT	Likely benign	rs782220140	RCV000898742\|RCV001704320;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244\|MedGen:CN517202	11	111904142	111904142	11:g.111904142C>T	ClinGen:CA6276719	CN169374 not specified;
NM_001931.5(DLAT):c.681T>C (p.Ser227=)	1737	DLAT	Likely benign	-1	RCV002149153;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111904148	111904148	111904148	-
NM_001931.5(DLAT):c.693C>T (p.Thr231=)	1737	DLAT	Benign	rs34680691	RCV000124686\|RCV000676207\|RCV001083386;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111904160	111904160	NC_000011.9:g.111904160C>T	ClinGen:CA290601	CN517202 not provided;
NM_001931.5(DLAT):c.754C>T (p.Leu252=)	1737	DLAT	Likely benign	rs139194443	RCV000432572\|RCV001496689;	N	MedGen:CN169374\|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111904221	111904221	11:g.111904221C>T	ClinGen:CA6276734	CN169374 not specified;
NM_001931.5(DLAT):c.759A>G (p.Ala253=)	1737	DLAT	Likely benign	rs914123181	RCV000928403\|RCV001434589;	N	MedGen:CN517202\|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111904226	111904226	11:g.111904226A>G	-
NM_001931.5(DLAT):c.788-20_788-18del	1737	DLAT	Likely benign	-1	RCV002635610;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111907976	111907978	NC_000011.9:g.111907977_111907979del	-
NM_001931.5(DLAT):c.828G>T (p.Leu276=)	1737	DLAT	Likely benign	rs199835215	RCV000434849\|RCV000889512\|RCV002056173;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111908037	111908037	11:g.111908037G>T	ClinGen:CA6276754	CN169374 not specified;
NM_001931.5(DLAT):c.848_849del (p.Asp283fs)	1737	DLAT	Conflicting interpretations of pathogenicity	rs782704553	RCV000500244;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111908057	111908058	NC_000011.9:g.111908057_111908058delAT	ClinGen:CA6276756	C1855565 245348 Pyruvate dehydrogenase E2 deficiency;
NM_001931.5(DLAT):c.856C>G (p.Leu286Val)	1737	DLAT	Uncertain significance	-1	RCV002632573;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111908065	111908065	NC_000011.9:g.111908065C>G	-
NM_001931.5(DLAT):c.864C>G (p.Thr288=)	1737	DLAT	Likely benign	-1	RCV002101590;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111908073	111908073	111908073	-
NM_001931.5(DLAT):c.887A>G (p.Lys296Arg)	1737	DLAT	Uncertain significance	-1	RCV001984303;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111908096	111908096	111908096	-
NM_001931.5(DLAT):c.895G>T (p.Asp299Tyr)	1737	DLAT	Uncertain significance	-1	RCV002009594;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111908104	111908104	111908104	-
NM_001931.5(DLAT):c.898A>G (p.Ile300Val)	1737	DLAT	Uncertain significance	-1	RCV001888537;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111908107	111908107	111908107	-
NM_001931.5(DLAT):c.900A>G (p.Ile300Met)	1737	DLAT	Uncertain significance	-1	RCV003146099;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111908109	111908109	NC_000011.9:g.111908109A>G	-
NM_001931.5(DLAT):c.921G>A (p.Arg307=)	1737	DLAT	Likely benign	-1	RCV002135859;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111908130	111908130	111908130	-
NM_001931.5(DLAT):c.928G>A (p.Glu310Lys)	1737	DLAT	Benign	rs116125936	RCV000124682\|RCV000962443\|RCV001530019;	N	MedGen:CN169374\|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244\|MedGen:CN517202	11	111908137	111908137	NC_000011.9:g.111908137G>A	ClinGen:CA290594	CN169374 not specified;
NM_001931.5(DLAT):c.934A>G (p.Thr312Ala)	1737	DLAT	Uncertain significance	-1	RCV002908633;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111908143	111908143	NC_000011.9:g.111908143A>G	-
NM_001931.5(DLAT):c.946C>T (p.Pro316Ser)	1737	DLAT	Likely benign	rs149088081	RCV000609986;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111908155	111908155	11:g.111908155C>T	ClinGen:CA6276773	C0034345 Pyruvate dehydrogenase complex deficiency;
NM_001931.5(DLAT):c.953T>C (p.Val318Ala)	1737	DLAT	Benign	rs627441	RCV000116879\|RCV000676208\|RCV001516164;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111908162	111908162	11:g.111908162T>C	ClinGen:CA152578,UniProtKB:P10515#VAR_047415	CN517202 not provided;
NM_001931.5(DLAT):c.960_971del (p.Thr322_Pro325del)	1737	DLAT	Uncertain significance	-1	RCV003071358\|RCV003071359;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111908164	111908175	NC_000011.9:g.111908169_111908180del	-
NM_001931.5(DLAT):c.956C>T (p.Pro319Leu)	1737	DLAT	Uncertain significance	rs1862832629	RCV001330870;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111908165	111908165	111908165	-
NM_001931.5(DLAT):c.969A>C (p.Pro323=)	1737	DLAT	Likely benign	rs587627931	RCV000922994\|RCV001720268;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244\|MedGen:CN517202	11	111908178	111908178	11:g.111908178A>C	-
NM_001931.5(DLAT):c.974C>T (p.Pro325Leu)	1737	DLAT	Uncertain significance	rs782527135	RCV001903189;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111908183	111908183	111908183	-
NM_001931.5(DLAT):c.975G>A (p.Pro325=)	1737	DLAT	Pathogenic	-1	RCV001844333;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111908184	111908184	111908184	-
NM_001931.5(DLAT):c.975+4G>A	1737	DLAT	Uncertain significance	-1	RCV003009703;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111908188	111908188	NC_000011.9:g.111908188G>A	-
NM_001931.5(DLAT):c.975+13C>T	1737	DLAT	Likely benign	-1	RCV002114088;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111908197	111908197	111908197	-
NM_001931.5(DLAT):c.975+15_975+16delinsGT	1737	DLAT	Likely benign	-1	RCV002097076;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111908199	111908200	111908199	-
NM_001931.5(DLAT):c.975+16G>T	1737	DLAT	Benign	-1	RCV001518740\|RCV001720293;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244\|MedGen:CN517202	11	111908200	111908200	111908200	-
NM_001931.5(DLAT):c.976-15A>T	1737	DLAT	Likely benign	rs1555180789	RCV000612982\|RCV002528807;	N	MedGen:CN169374\|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111909953	111909953	11:g.111909953A>T	ClinGen:CA658797797	CN169374 not specified;
NM_001931.5(DLAT):c.976-1G>A	1737	DLAT	Conflicting interpretations of pathogenicity	rs367875541	RCV000497952\|RCV001196727;	N	MedGen:CN517202\|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111909967	111909967	11:g.111909967G>A	ClinGen:CA6276797	CN517202 not provided;
NM_001931.5(DLAT):c.981C>T (p.Ala327=)	1737	DLAT	Likely benign	rs782157762	RCV001719008\|RCV002064194;	N	MedGen:CN517202\|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111909973	111909973	11:g.111909973C>T	ClinGen:CA6276799	CN169374 not specified;
NM_001931.5(DLAT):c.982G>A (p.Ala328Thr)	1737	DLAT	Uncertain significance	-1	RCV002019025;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111909974	111909974	111909974	-
NM_001931.5(DLAT):c.983C>T (p.Ala328Val)	1737	DLAT	Uncertain significance	rs781861956	RCV001061768;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111909975	111909975	11:g.111909975C>T	-
NM_001931.5(DLAT):c.991C>G (p.Pro331Ala)	1737	DLAT	Likely benign	rs78320677	RCV001444432;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111909983	111909983	NC_000011.9:g.111909983C>G	ClinGen:CA6276801	C0034345 Pyruvate dehydrogenase complex deficiency;
NM_001931.5(DLAT):c.1035A>G (p.Pro345=)	1737	DLAT	Likely benign	rs140302942	RCV000416012\|RCV001082186;	N	MedGen:CN517202\|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111910027	111910027	11:g.111910027A>G	ClinGen:CA6276809	CN517202 not provided;
NM_001931.5(DLAT):c.1040C>G (p.Thr347Ser)	1737	DLAT	Uncertain significance	-1	RCV001361958;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111910032	111910032	111910032	-
NM_001931.5(DLAT):c.1071T>C (p.Val357=)	1737	DLAT	Likely benign	-1	RCV001502016;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111910063	111910063	111910063	-
NM_001931.5(DLAT):c.1130-6T>G	1737	DLAT	Uncertain significance	-1	RCV003059255;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111914184	111914184	NC_000011.9:g.111914184T>G	-
NM_001931.5(DLAT):c.1142A>G (p.Asp381Gly)	1737	DLAT	Likely benign	rs144235197	RCV000907218\|RCV001660588;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244\|MedGen:CN517202	11	111914202	111914202	11:g.111914202A>G	ClinGen:CA6276829	C0034345 Pyruvate dehydrogenase complex deficiency;
NM_001931.5(DLAT):c.1146T>A (p.Gly382_Arg383=)	1737	DLAT	Likely benign	-1	RCV002996118;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111914206	111914206	NC_000011.9:g.111914206T>A	-
NM_001931.5(DLAT):c.1171_1172delinsAT (p.Ser391Ile)	1737	DLAT	Uncertain significance	-1	RCV003008271;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111914231	111914232	NC_000011.9:g.111914231_111914232delinsAT	-
NM_001931.5(DLAT):c.1197+17T>A	1737	DLAT	Likely benign	-1	RCV002174718;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111914274	111914274	111914274	-
NM_001931.5(DLAT):c.1197+20T>C	1737	DLAT	Likely benign	-1	RCV002202676;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111914277	111914277	111914277	-
NM_001931.5(DLAT):c.1198-20C>T	1737	DLAT	Likely benign	-1	RCV002122196;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111915842	111915842	111915842	-
NM_001931.5(DLAT):c.1198-16T>C	1737	DLAT	Likely benign	-1	RCV002096935;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111915846	111915846	111915846	-
NM_001931.5(DLAT):c.1202C>T (p.Pro401Leu)	1737	DLAT	Uncertain significance	rs781794850	RCV000660429;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111915866	111915866	11:g.111915866C>T	-	C1855565 245348 Pyruvate dehydrogenase E2 deficiency;
NM_001931.5(DLAT):c.1253G>A (p.Gly418Asp)	1737	DLAT	Uncertain significance	-1	RCV002636842;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111915917	111915917	NC_000011.9:g.111915917G>A	-
NM_001931.5(DLAT):c.1285C>A (p.Arg429Ser)	1737	DLAT	Uncertain significance	-1	RCV001997640;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111915949	111915949	111915949	-
NM_001931.5(DLAT):c.1287T>G (p.Arg429_Arg430=)	1737	DLAT	Likely benign	-1	RCV002928607;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111915951	111915951	NC_000011.9:g.111915951T>G	-
NM_001931.5(DLAT):c.1289G>A (p.Arg430Gln)	1737	DLAT	Uncertain significance	rs782627956	RCV001228444;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111915953	111915953	11:g.111915953G>A	-
NM_001931.5(DLAT):c.1290G>A (p.Arg430=)	1737	DLAT	Uncertain significance	-1	RCV001958552;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111915954	111915954	111915954	-
NM_001931.5(DLAT):c.1290+5G>A	1737	DLAT	Uncertain significance	rs886047694	RCV002034399;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111915959	111915959	111915959	-
NM_001931.5(DLAT):c.1290+17C>T	1737	DLAT	Likely benign	-1	RCV002096329;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111915971	111915971	111915971	-
NM_001931.5(DLAT):c.1291-10T>C	1737	DLAT	Likely benign	-1	RCV002591894;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111916577	111916577	NC_000011.9:g.111916577T>C	-
NM_001931.5(DLAT):c.1310T>G (p.Met437Arg)	1737	DLAT	Uncertain significance	rs1863289848	RCV001297179;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111916606	111916606	111916606	-
NM_001931.5(DLAT):c.1350C>T (p.Ile450=)	1737	DLAT	Likely benign	-1	RCV002134288;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111916646	111916646	111916646	-
NM_001931.5(DLAT):c.1351G>A (p.Asp451Asn)	1737	DLAT	Benign/Likely benign	rs10891314	RCV000116878\|RCV000676209\|RCV001510015;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111916647	111916647	11:g.111916647G>A	ClinGen:CA152576,UniProtKB:P10515#VAR_047416	CN517202 not provided;
NM_001931.5(DLAT):c.1368A>G (p.Glu456_Val457=)	1737	DLAT	Likely benign	-1	RCV002587308;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111916664	111916664	NC_000011.9:g.111916664A>G	-
NM_001931.5(DLAT):c.1374G>T (p.Leu458Phe)	1737	DLAT	Uncertain significance	-1	RCV001926901;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111916670	111916670	111916670	-
NM_001931.5(DLAT):c.1378G>T (p.Val460Leu)	1737	DLAT	Uncertain significance	-1	RCV003005015;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111916674	111916674	NC_000011.9:g.111916674G>T	-
NM_001931.5(DLAT):c.1384A>C (p.Lys462Gln)	1737	DLAT	Uncertain significance	rs1863296122	RCV001235170;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111916680	111916680	11:g.111916680A>C	-
NM_001931.5(DLAT):c.1399-13_1399-11del	1737	DLAT	Benign	-1	RCV002161732;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111921940	111921942	111921939	-
NM_001931.5(DLAT):c.1399-13C>T	1737	DLAT	Likely benign	rs374698306	RCV001581214\|RCV002072297;	N	MedGen:CN517202\|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111921945	111921945	NC_000011.9:g.111921945C>T	-	C0034345 Pyruvate dehydrogenase complex deficiency;
NM_001931.5(DLAT):c.1399A>C (p.Ile467Leu)	1737	DLAT	Uncertain significance	rs1221769620	RCV001196716;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111921958	111921958	11:g.111921958A>C	-
NM_001931.5(DLAT):c.1406A>G (p.Glu469Gly)	1737	DLAT	Uncertain significance	rs376141049	RCV001298377;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111921965	111921965	111921965	-
NM_001931.5(DLAT):c.1447G>C (p.Ala483Pro)	1737	DLAT	Uncertain significance	-1	RCV001876520;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111922006	111922006	111922006	-
NM_001931.5(DLAT):c.1476C>T (p.Pro492=)	1737	DLAT	Likely benign	rs370501604	RCV000920510;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111922035	111922035	11:g.111922035C>T	-
NM_001931.5(DLAT):c.1501A>G (p.Thr501Ala)	1737	DLAT	Uncertain significance	-1	RCV003045036;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111922060	111922060	NC_000011.9:g.111922060A>G	-
NM_001931.5(DLAT):c.1514A>G (p.Gln505Arg)	1737	DLAT	Uncertain significance	-1	RCV001370172;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111922073	111922073	111922073	-
NM_001931.5(DLAT):c.1515-7T>A	1737	DLAT	Likely benign	-1	RCV003065728;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111930620	111930620	NC_000011.9:g.111930620T>A	-
NM_001931.5(DLAT):c.1535G>A (p.Ser512Asn)	1737	DLAT	Uncertain significance	-1	RCV001971606;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111930647	111930647	111930647	-
NM_001931.5(DLAT):c.1542G>A (p.Ala514=)	1737	DLAT	Likely benign	rs587652725	RCV000981703\|RCV000607494\|RCV001506699;	N	MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111930654	111930654	11:g.111930654G>A	ClinGen:CA6276962	CN169374 not specified;
NM_001931.5(DLAT):c.1542G>C (p.Ala514=)	1737	DLAT	Likely benign	-1	RCV002105563;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111930654	111930654	111930654	-
NM_001931.5(DLAT):c.1547G>T (p.Ser516Ile)	1737	DLAT	Uncertain significance	rs782629889	RCV000676210\|RCV002531376;	N	MedGen:CN517202\|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111930659	111930659	11:g.111930659G>T	-	CN517202 not provided;
NM_001931.5(DLAT):c.1567A>G (p.Thr523Ala)	1737	DLAT	Uncertain significance	-1	RCV001934664;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111930679	111930679	111930679	-
NM_001931.5(DLAT):c.1591A>G (p.Ile531Val)	1737	DLAT	Uncertain significance	-1	RCV003146100;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111930703	111930703	NC_000011.9:g.111930703A>G	-
NM_001931.5(DLAT):c.1636A>G (p.Thr546Ala)	1737	DLAT	Conflicting interpretations of pathogenicity	rs143152014	RCV000967708\|RCV002066407;	N	MedGen:CN517202\|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111930748	111930748	11:g.111930748A>G	-
NM_001931.5(DLAT):c.1645A>G (p.Arg549Gly)	1737	DLAT	Uncertain significance	-1	RCV001881363;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111930757	111930757	111930757	-
NM_001931.5(DLAT):c.1664C>A (p.Pro555Gln)	1737	DLAT	Uncertain significance	-1	RCV001867039;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111930776	111930776	111930776	-
NM_001931.5(DLAT):c.1669G>A (p.Glu557Lys)	1737	DLAT	Uncertain significance	-1	RCV002048112;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111930781	111930781	111930781	-
NM_001931.5(DLAT):c.1677+4G>C	1737	DLAT	Uncertain significance	-1	RCV001952875;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111930793	111930793	111930793	-
NM_001931.5(DLAT):c.1677+8A>G	1737	DLAT	Likely benign	rs201994231	RCV000602801\|RCV001471028;	N	MedGen:CN169374\|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111930797	111930797	11:g.111930797A>G	ClinGen:CA6276983	CN169374 not specified;
NM_001931.5(DLAT):c.1677+9T>C	1737	DLAT	Likely benign	-1	RCV002636774;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111930798	111930798	NC_000011.9:g.111930798T>C	-
NM_001931.5(DLAT):c.1677+21_1677+24del	1737	DLAT	Likely benign	-1	RCV002629687;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111930808	111930811	NC_000011.9:g.111930810_111930813del	-
NM_001931.5(DLAT):c.1678-8del	1737	DLAT	Benign	-1	RCV002110001;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111931747	111931747	111931746	-
NM_001931.5(DLAT):c.1678-7C>T	1737	DLAT	Likely benign	-1	RCV002183060;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111931755	111931755	111931755	-
NM_001931.5(DLAT):c.1692G>A (p.Thr564=)	1737	DLAT	Likely benign	rs185907405	RCV001705451\|RCV002520672;	N	MedGen:CN517202\|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111931776	111931776	11:g.111931776G>A	ClinGen:CA6276997	CN169374 not specified;
NM_001931.5(DLAT):c.1703T>C (p.Leu568Ser)	1737	DLAT	Uncertain significance	-1	RCV001929350;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111931787	111931787	111931787	-
NM_001931.5(DLAT):c.1712T>C (p.Phe571Ser)	1737	DLAT	Uncertain significance	rs782810132	RCV001040101;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111931796	111931796	11:g.111931796T>C	-
NM_001931.5(DLAT):c.1728C>A (p.Phe576Leu)	1737	DLAT	Likely pathogenic	rs119103240	RCV000002191;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111931812	111931812	11:g.111931812C>A	ClinGen:CA115349,OMIM:608770.0002	C1855565 245348 Pyruvate dehydrogenase E2 deficiency;
NM_001931.5(DLAT):c.1735A>G (p.Ile579Val)	1737	DLAT	Conflicting interpretations of pathogenicity	rs371341957	RCV002176660\|RCV003093800;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244\|MeSH:D030342,MedGen:C0950123	11	111931819	111931819	111931819	-
NM_001931.5(DLAT):c.1743C>T (p.Asn581=)	1737	DLAT	Likely benign	rs150592352	RCV000909935\|RCV001455106;	N	MedGen:CN517202\|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111931827	111931827	11:g.111931827C>T	-
NM_001931.5(DLAT):c.1771G>T (p.Gly591Cys)	1737	DLAT	Uncertain significance	-1	RCV002833495;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111931855	111931855	NC_000011.9:g.111931855G>T	-
NM_001931.5(DLAT):c.1784A>G (p.Asp595Gly)	1737	DLAT	Uncertain significance	-1	RCV002731338;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111931868	111931868	NC_000011.9:g.111931868A>G	-
NM_001931.5(DLAT):c.1806_1808dup (p.Asn602_Glu603insAsp)	1737	DLAT	Uncertain significance	-1	RCV002006819;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111931888	111931889	111931888	-
NM_001931.5(DLAT):c.1815-15T>C	1737	DLAT	Benign/Likely benign	rs192297571	RCV000422147\|RCV002519539;	N	MedGen:CN169374\|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111933115	111933115	11:g.111933115T>C	ClinGen:CA6277030	CN169374 not specified;
NM_001931.5(DLAT):c.1823T>A (p.Val608Glu)	1737	DLAT	Uncertain significance	-1	RCV002297420;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111933138	111933138	111933138	-
NM_001931.5(DLAT):c.1851T>C (p.Ser617_Cys618=)	1737	DLAT	Likely benign	-1	RCV003074147;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111933166	111933166	NC_000011.9:g.111933166T>C	-
NM_001931.5(DLAT):c.1867G>C (p.Val623Leu)	1737	DLAT	Uncertain significance	-1	RCV002572248;	N	MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111933182	111933182	NC_000011.9:g.111933182G>C	-
NC_000011.9:g.(?_111171709)_(112104278_?)dup	-1	subset of 26 genes: SDHD	Uncertain significance	-1	RCV003111003\|RCV003111004;	N	MONDO:MONDO:0009863,MedGen:C0878676,OMIM:261640, Orphanet:13, Orphanet:238583\|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244	11	111171709	112104278		-