MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Acidosis, Lactic (D000140)
Parent Node:
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Pyruvate Dehydrogenase Complex Deficiency Disease (D015325)
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Pyruvate Dehydrogenase E2 Deficiency (C565448)

       Child Nodes:



 Sister Nodes: 
..expandPhosphoenolpyruvate carboxykinase 2 deficiency (C536655)  LSDB  L: 00046;
..expandPyruvate Dehydrogenase E1-Beta Deficiency (C566729)  LSDB  L: 00478;
..expandPyruvate Dehydrogenase E2 Deficiency (C565448)  LSDB  L: 00475;
..expandPyruvate 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 LSDB: 00475;  
Genes: DLAT;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003593Infantile onset
3 HP:0001251Ataxia
4 HP:0001266Choreoathetosis
5 HP:0002928Decreased activity of the pyruvate dehydrogenase complex
6 HP:0002194Delayed gross motor development
NAMDC:  Gross motor delay
7 HP:0002307Drooling
8 HP:0001263Global developmental delay
NAMDC:  Mental retardation
9 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
10 HP:0001347Hyperreflexia
NAMDC:  Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
11 HP:0001256Intellectual disability, mild
12 HP:0006961Jerky head movements
13 HP:0003128Lactic acidosis
14 HP:0000252Microcephaly
15 HP:0001319Neonatal hypotonia
NAMDC:  Floppy baby
16 HP:0000639Nystagmus
17 HP:0000657Oculomotor apraxia
18 HP:0002268Paroxysmal dystonia
19 HP:0002465Poor speech
20 HP:0000508Ptosis
NAMDC:  Ptosis
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000011.9:g.(?_111896177)_(111922093_?)del1737DLATPathogenic-1RCV001032587; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111896177111922093nana-1-
NC_000011.9:g.(?_111896197)_(111922093_?)dup1737DLATUncertain significance-1RCV001968495; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111896197111922093nana-1-
NM_001931.5(DLAT):c.32A>C (p.Asn11Thr)1737DLATUncertain significancers1035034726RCV001043817; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111896228111896228AC11:g.111896228A>C-
NM_001931.5(DLAT):c.46G>A (p.Ala16Thr)1737DLATBenignrs150145390RCV000124680|RCV000904667; NMedGen:CN169374|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111896242111896242GANC_000011.9:g.111896242G>AClinGen:CA290590CN169374 not specified;
NM_001931.5(DLAT):c.54C>A (p.Leu18=)1737DLATLikely benign-1RCV001485841; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111896250111896250CA111896250-
NM_001931.5(DLAT):c.55G>C (p.Glu19Gln)1737DLATBenignrs61757217RCV000124681|RCV000676202|RCV001001506; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111896251111896251GC11:g.111896251G>CClinGen:CA290592CN517202 not provided;
NM_001931.5(DLAT):c.98G>A (p.Arg33Gln)1737DLATUncertain significance-1RCV001991053; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111896294111896294GA111896294-
NM_001931.5(DLAT):c.109C>G (p.Arg37Gly)1737DLATLikely benign-1RCV001939439; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111896305111896305CG111896305-
NM_001931.5(DLAT):c.128C>T (p.Ala43Val)1737DLATBenignrs2303436RCV000116877|RCV000676203|RCV001510014; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111896324111896324CT11:g.111896324C>TClinGen:CA152574,UniProtKB:P10515#VAR_047410CN517202 not provided;
NM_001931.5(DLAT):c.144G>A (p.Val48=)1737DLATLikely benignrs367745211RCV000642191; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111896340111896340GANC_000011.9:g.111896340G>AClinGen:CA477041116C1855565 245348 Pyruvate dehydrogenase E2 deficiency;
NM_001931.5(DLAT):c.160G>T (p.Gly54Trp)1737DLATUncertain significance-1RCV001937145; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111896356111896356GT111896356-
NM_001931.5(DLAT):c.177C>T (p.Cys59=)1737DLATLikely benignrs150994149RCV001697903|RCV002065341; NMedGen:CN517202|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111896373111896373CT11:g.111896373C>TClinGen:CA6276540CN169374 not specified;
NM_001931.5(DLAT):c.240G>A (p.Ser80=)1737DLATLikely benignrs587735788RCV000609491|RCV002062962; NMedGen:CN169374|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111896436111896436GA11:g.111896436G>AClinGen:CA6276559CN169374 not specified;
NM_001931.5(DLAT):c.252C>T (p.Arg84=)1737DLATLikely benign-1RCV002171519; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111896448111896448CT111896448-
NM_001931.5(DLAT):c.253T>C (p.Tyr85His)1737DLATUncertain significance-1RCV001950068; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111896449111896449TC111896449-
NM_001931.5(DLAT):c.267C>A (p.Pro89=)1737DLATLikely benign-1RCV002179203; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111896463111896463CA111896463-
NM_001931.5(DLAT):c.279+13C>A1737DLATLikely benignrs187974706RCV000422967|RCV002062565; NMedGen:CN169374|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111896488111896488CA11:g.111896488C>AClinGen:CA6276579CN169374 not specified;
NM_001931.5(DLAT):c.280-15C>T1737DLATLikely benign-1RCV002155480; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111896907111896907CT111896907-
NM_001931.5(DLAT):c.306A>G (p.Thr102=)1737DLATLikely benign-1RCV002145285; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111896948111896948AG111896948-
NM_001931.5(DLAT):c.318C>A (p.Gly106=)1737DLATLikely benignrs201070254RCV000901088|RCV001466689; NMedGen:CN517202|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111896960111896960CA11:g.111896960C>AClinGen:CA6276606C0034345 Pyruvate dehydrogenase complex deficiency;
NM_001931.5(DLAT):c.325G>A (p.Ala109Thr)1737DLATUncertain significance-1RCV001908510; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111896967111896967GA111896967-
NM_001931.5(DLAT):c.343G>A (p.Glu115Lys)1737DLATUncertain significancers200147835RCV001345626; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111896985111896985GA111896985-
NM_001931.5(DLAT):c.355A>G (p.Ile119Val)1737DLATUncertain significancers1555179245RCV000642190; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111896997111896997AG11:g.111896997A>GClinGen:CA382598011C1855565 245348 Pyruvate dehydrogenase E2 deficiency;
NM_001931.5(DLAT):c.372A>C (p.Leu124=)1737DLATLikely benign-1RCV001430730; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111897014111897014AC111897014-
NM_001931.5(DLAT):c.381+5_381+6insC1737DLATUncertain significance-1RCV001913653; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111897028111897029GGC111897028-
NM_001931.4(DLAT):c.381+22delT1737DLATBenign/Likely benignrs5794771RCV000625085|RCV000676204; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244|MedGen:CN51720211111897029111897029GTGNC_000011.9:g.111897045delClinGen:CA6276621CN517202 not provided;
NM_001931.5(DLAT):c.381+6T>G1737DLATUncertain significance-1RCV001957604; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111897029111897029TG111897029-
NM_001931.5(DLAT):c.381+7T>A1737DLATLikely benign-1RCV002090436; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111897030111897030TA111897030-
NM_001931.5(DLAT):c.381+8T>G1737DLATLikely benign-1RCV002168332; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111897031111897031TG111897031-
NM_001931.5(DLAT):c.381+9T>G1737DLATLikely benign-1RCV002116884; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111897032111897032TG111897032-
NM_001931.5(DLAT):c.381+12_381+13insG1737DLATLikely benign-1RCV002146400; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111897035111897036TTG111897035-
NM_001931.5(DLAT):c.382G>A (p.Val128Ile)1737DLATUncertain significancers144677434RCV000732667|RCV001327355; NMedGen:CN517202|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111899239111899239GANC_000011.9:g.111899239G>A-
NM_001931.5(DLAT):c.396dup (p.Ala133fs)1737DLATUncertain significancers782173047RCV000778303; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111899250111899251TTANC_000011.9:g.111899253dup-
NM_001931.5(DLAT):c.417C>T (p.Ser139=)1737DLATLikely benign-1RCV002163827; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111899274111899274CT111899274-
NM_001931.5(DLAT):c.436G>A (p.Ala146Thr)1737DLATUncertain significance-1RCV001931286; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111899293111899293GA111899293-
NM_001931.5(DLAT):c.470T>G (p.Val157Gly)1737DLATLikely pathogenicrs797044957RCV000190817|RCV000767878; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111899327111899327TG11:g.111899327T>GClinGen:CA204916,OMIM:608770.0003C0950123 Inborn genetic diseases;
NM_001931.5(DLAT):c.506+9T>C1737DLATLikely benign-1RCV002088633; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111899372111899372TC111899372-
NM_001931.5(DLAT):c.506+11C>T1737DLATBenignrs77846695RCV000124683|RCV001519937; NMedGen:CN169374|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111899374111899374CTNC_000011.9:g.111899374C>TClinGen:CA290596CN169374 not specified;
NM_001931.5(DLAT):c.506+12G>A1737DLATLikely benignrs372355218RCV000444820|RCV002056172; NMedGen:CN169374|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111899375111899375GA11:g.111899375G>AClinGen:CA6276679CN169374 not specified;
NM_001931.5(DLAT):c.507-12T>G1737DLATLikely benign-1RCV002092523; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111899504111899504TG111899504-
NM_001931.5(DLAT):c.510T>A (p.Pro170=)1737DLATUncertain significance-1RCV001365666; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111899519111899519TA111899519-
NM_001931.5(DLAT):c.570A>G (p.Gln190=)1737DLATBenign/Likely benignrs143107853RCV000124684|RCV000603990; NMedGen:CN169374|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111899579111899579AG11:g.111899579A>GClinGen:CA290597CN169374 not specified;
NM_001931.5(DLAT):c.572C>T (p.Ala191Val)1737DLATConflicting interpretations of pathogenicityrs200500508RCV000198635|RCV000660430; NMedGen:CN169374|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111899581111899581CTNC_000011.9:g.111899581C>TClinGen:CA323171CN169374 not specified;
NM_001931.5(DLAT):c.577C>G (p.Pro193Ala)1737DLATUncertain significance-1RCV001934257; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111899586111899586CG111899586-
NM_001931.5(DLAT):c.606G>A (p.Ser202=)1737DLATLikely benignrs148153443RCV001653160|RCV002073056; NMedGen:CN517202|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111899615111899615GANC_000011.9:g.111899615G>A-C0034345 Pyruvate dehydrogenase complex deficiency;
NM_001931.5(DLAT):c.626A>G (p.Gln209Arg)1737DLATBenignrs11553595RCV000124685|RCV000676206|RCV001001507; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111899635111899635AG11:g.111899635A>GClinGen:CA290599,UniProtKB:P10515#VAR_047413CN517202 not provided;
NM_001931.5(DLAT):c.628G>A (p.Ala210Thr)1737DLATLikely benignrs140678772RCV000196247|RCV001086390; NMedGen:CN517202|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111899637111899637GA11:g.111899637G>AClinGen:CA320670CN169374 not specified;
NM_001931.5(DLAT):c.675C>T (p.Ala225=)1737DLATLikely benignrs782220140RCV000898742|RCV001704320; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244|MedGen:CN51720211111904142111904142CT11:g.111904142C>TClinGen:CA6276719CN169374 not specified;
NM_001931.5(DLAT):c.681T>C (p.Ser227=)1737DLATLikely benign-1RCV002149153; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111904148111904148TC111904148-
NM_001931.5(DLAT):c.693C>T (p.Thr231=)1737DLATBenignrs34680691RCV000124686|RCV000676207|RCV001083386; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111904160111904160CTNC_000011.9:g.111904160C>TClinGen:CA290601CN517202 not provided;
NM_001931.5(DLAT):c.754C>T (p.Leu252=)1737DLATLikely benignrs139194443RCV000432572|RCV001496689; NMedGen:CN169374|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111904221111904221CT11:g.111904221C>TClinGen:CA6276734CN169374 not specified;
NM_001931.5(DLAT):c.759A>G (p.Ala253=)1737DLATLikely benignrs914123181RCV000928403|RCV001434589; NMedGen:CN517202|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111904226111904226AG11:g.111904226A>G-
NM_001931.5(DLAT):c.828G>T (p.Leu276=)1737DLATLikely benignrs199835215RCV000434849|RCV000889512|RCV002056173; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111908037111908037GT11:g.111908037G>TClinGen:CA6276754CN169374 not specified;
NM_001931.5(DLAT):c.848_849del (p.Asp283fs)1737DLATConflicting interpretations of pathogenicityrs782704553RCV000500244; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111908057111908058GATGNC_000011.9:g.111908057_111908058delATClinGen:CA6276756C1855565 245348 Pyruvate dehydrogenase E2 deficiency;
NM_001931.5(DLAT):c.864C>G (p.Thr288=)1737DLATLikely benign-1RCV002101590; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111908073111908073CG111908073-
NM_001931.5(DLAT):c.887A>G (p.Lys296Arg)1737DLATUncertain significance-1RCV001984303; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111908096111908096AG111908096-
NM_001931.5(DLAT):c.895G>T (p.Asp299Tyr)1737DLATUncertain significance-1RCV002009594; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111908104111908104GT111908104-
NM_001931.5(DLAT):c.898A>G (p.Ile300Val)1737DLATUncertain significance-1RCV001888537; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111908107111908107AG111908107-
NM_001931.5(DLAT):c.921G>A (p.Arg307=)1737DLATLikely benign-1RCV002135859; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111908130111908130GA111908130-
NM_001931.5(DLAT):c.928G>A (p.Glu310Lys)1737DLATBenignrs116125936RCV000124682|RCV000962443|RCV001530019; NMedGen:CN169374|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244|MedGen:CN51720211111908137111908137GANC_000011.9:g.111908137G>AClinGen:CA290594CN169374 not specified;
NM_001931.5(DLAT):c.946C>T (p.Pro316Ser)1737DLATLikely benignrs149088081RCV000609986; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111908155111908155CT11:g.111908155C>TClinGen:CA6276773C0034345 Pyruvate dehydrogenase complex deficiency;
NM_001931.5(DLAT):c.953T>C (p.Val318Ala)1737DLATBenignrs627441RCV000116879|RCV000676208|RCV001516164; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111908162111908162TC11:g.111908162T>CClinGen:CA152578,UniProtKB:P10515#VAR_047415CN517202 not provided;
NM_001931.5(DLAT):c.956C>T (p.Pro319Leu)1737DLATUncertain significancers1862832629RCV001330870; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111908165111908165CT111908165-
NM_001931.5(DLAT):c.969A>C (p.Pro323=)1737DLATLikely benignrs587627931RCV000922994|RCV001720268; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244|MedGen:CN51720211111908178111908178AC11:g.111908178A>C-
NM_001931.5(DLAT):c.974C>T (p.Pro325Leu)1737DLATUncertain significancers782527135RCV001903189; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111908183111908183CT111908183-
NM_001931.5(DLAT):c.975G>A (p.Pro325=)1737DLATPathogenic-1RCV001844333; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111908184111908184GA111908184-
NM_001931.5(DLAT):c.975+13C>T1737DLATLikely benign-1RCV002114088; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111908197111908197CT111908197-
NM_001931.5(DLAT):c.975+15_975+16delinsGT1737DLATLikely benign-1RCV002097076; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111908199111908200AGGT111908199-
NM_001931.5(DLAT):c.975+16G>T1737DLATBenign-1RCV001518740|RCV001720293; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244|MedGen:CN51720211111908200111908200GT111908200-
NM_001931.5(DLAT):c.976-1G>A1737DLATConflicting interpretations of pathogenicityrs367875541RCV000497952|RCV001196727; NMedGen:CN517202|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111909967111909967GA11:g.111909967G>AClinGen:CA6276797CN517202 not provided;
NM_001931.5(DLAT):c.981C>T (p.Ala327=)1737DLATLikely benignrs782157762RCV001719008|RCV002064194; NMedGen:CN517202|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111909973111909973CT11:g.111909973C>TClinGen:CA6276799CN169374 not specified;
NM_001931.5(DLAT):c.982G>A (p.Ala328Thr)1737DLATUncertain significance-1RCV002019025; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111909974111909974GA111909974-
NM_001931.5(DLAT):c.983C>T (p.Ala328Val)1737DLATUncertain significancers781861956RCV001061768; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111909975111909975CT11:g.111909975C>T-
NM_001931.5(DLAT):c.991C>G (p.Pro331Ala)1737DLATLikely benignrs78320677RCV001444432; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111909983111909983CGNC_000011.9:g.111909983C>GClinGen:CA6276801C0034345 Pyruvate dehydrogenase complex deficiency;
NM_001931.5(DLAT):c.1035A>G (p.Pro345=)1737DLATLikely benignrs140302942RCV000416012|RCV001082186; NMedGen:CN517202|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111910027111910027AG11:g.111910027A>GClinGen:CA6276809CN517202 not provided;
NM_001931.5(DLAT):c.1040C>G (p.Thr347Ser)1737DLATUncertain significance-1RCV001361958; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111910032111910032CG111910032-
NM_001931.5(DLAT):c.1071T>C (p.Val357=)1737DLATLikely benign-1RCV001502016; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111910063111910063TC111910063-
NM_001931.5(DLAT):c.1142A>G (p.Asp381Gly)1737DLATLikely benignrs144235197RCV000907218|RCV001660588; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:79244|MedGen:CN51720211111914202111914202AG11:g.111914202A>GClinGen:CA6276829C0034345 Pyruvate dehydrogenase complex deficiency;
NM_001931.5(DLAT):c.1197+17T>A1737DLATLikely benign-1RCV002174718; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111914274111914274TA111914274-
NM_001931.5(DLAT):c.1197+20T>C1737DLATLikely benign-1RCV002202676; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111914277111914277TC111914277-
NM_001931.5(DLAT):c.1198-20C>T1737DLATLikely benign-1RCV002122196; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111915842111915842CT111915842-
NM_001931.5(DLAT):c.1198-16T>C1737DLATLikely benign-1RCV002096935; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111915846111915846TC111915846-
NM_001931.5(DLAT):c.1202C>T (p.Pro401Leu)1737DLATUncertain significancers781794850RCV000660429; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111915866111915866CT11:g.111915866C>T-C1855565 245348 Pyruvate dehydrogenase E2 deficiency;
NM_001931.5(DLAT):c.1285C>A (p.Arg429Ser)1737DLATUncertain significance-1RCV001997640; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111915949111915949CA111915949-
NM_001931.5(DLAT):c.1289G>A (p.Arg430Gln)1737DLATUncertain significancers782627956RCV001228444; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111915953111915953GA11:g.111915953G>A-
NM_001931.5(DLAT):c.1290G>A (p.Arg430=)1737DLATUncertain significance-1RCV001958552; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111915954111915954GA111915954-
NM_001931.5(DLAT):c.1290+5G>A1737DLATUncertain significancers886047694RCV002034399; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111915959111915959GA111915959-
NM_001931.5(DLAT):c.1290+17C>T1737DLATLikely benign-1RCV002096329; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111915971111915971CT111915971-
NM_001931.5(DLAT):c.1310T>G (p.Met437Arg)1737DLATUncertain significancers1863289848RCV001297179; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111916606111916606TG111916606-
NM_001931.5(DLAT):c.1350C>T (p.Ile450=)1737DLATLikely benign-1RCV002134288; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111916646111916646CT111916646-
NM_001931.5(DLAT):c.1351G>A (p.Asp451Asn)1737DLATBenign/Likely benignrs10891314RCV000116878|RCV000676209|RCV001510015; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111916647111916647GA11:g.111916647G>AUniProtKB:P10515#VAR_047416,ClinGen:CA152576CN517202 not provided;
NM_001931.5(DLAT):c.1374G>T (p.Leu458Phe)1737DLATUncertain significance-1RCV001926901; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111916670111916670GT111916670-
NM_001931.5(DLAT):c.1384A>C (p.Lys462Gln)1737DLATUncertain significancers1863296122RCV001235170; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111916680111916680AC11:g.111916680A>C-
NM_001931.5(DLAT):c.1399-13_1399-11del1737DLATBenign-1RCV002161732; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111921940111921942GTTCG111921939-
NM_001931.5(DLAT):c.1399-13C>T1737DLATLikely benignrs374698306RCV001581214|RCV002072297; NMedGen:CN517202|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111921945111921945CTNC_000011.9:g.111921945C>T-C0034345 Pyruvate dehydrogenase complex deficiency;
NM_001931.5(DLAT):c.1399A>C (p.Ile467Leu)1737DLATUncertain significancers1221769620RCV001196716; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111921958111921958AC11:g.111921958A>C-
NM_001931.5(DLAT):c.1406A>G (p.Glu469Gly)1737DLATUncertain significancers376141049RCV001298377; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111921965111921965AG111921965-
NM_001931.5(DLAT):c.1447G>C (p.Ala483Pro)1737DLATUncertain significance-1RCV001876520; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111922006111922006GC111922006-
NM_001931.5(DLAT):c.1476C>T (p.Pro492=)1737DLATLikely benignrs370501604RCV000920510; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111922035111922035CT11:g.111922035C>T-
NM_001931.5(DLAT):c.1514A>G (p.Gln505Arg)1737DLATUncertain significance-1RCV001370172; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111922073111922073AG111922073-
NM_001931.5(DLAT):c.1535G>A (p.Ser512Asn)1737DLATUncertain significance-1RCV001971606; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111930647111930647GA111930647-
NM_001931.5(DLAT):c.1542G>A (p.Ala514=)1737DLATLikely benignrs587652725RCV000607494|RCV000981703|RCV001506699; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111930654111930654GA11:g.111930654G>AClinGen:CA6276962CN169374 not specified;
NM_001931.5(DLAT):c.1542G>C (p.Ala514=)1737DLATLikely benign-1RCV002105563; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111930654111930654GC111930654-
NM_001931.5(DLAT):c.1567A>G (p.Thr523Ala)1737DLATUncertain significance-1RCV001934664; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111930679111930679AG111930679-
NM_001931.5(DLAT):c.1636A>G (p.Thr546Ala)1737DLATLikely benignrs143152014RCV000967708|RCV002066407; NMedGen:CN517202|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111930748111930748AG11:g.111930748A>G-
NM_001931.5(DLAT):c.1645A>G (p.Arg549Gly)1737DLATUncertain significance-1RCV001881363; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111930757111930757AG111930757-
NM_001931.5(DLAT):c.1664C>A (p.Pro555Gln)1737DLATUncertain significance-1RCV001867039; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111930776111930776CA111930776-
NM_001931.5(DLAT):c.1669G>A (p.Glu557Lys)1737DLATUncertain significance-1RCV002048112; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111930781111930781GA111930781-
NM_001931.5(DLAT):c.1677+4G>C1737DLATUncertain significance-1RCV001952875; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111930793111930793GC111930793-
NM_001931.5(DLAT):c.1677+8A>G1737DLATLikely benignrs201994231RCV000602801|RCV001471028; NMedGen:CN169374|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111930797111930797AG11:g.111930797A>GClinGen:CA6276983CN169374 not specified;
NM_001931.5(DLAT):c.1678-8del1737DLATBenign-1RCV002110001; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111931747111931747ATA111931746-
NM_001931.5(DLAT):c.1678-7C>T1737DLATLikely benign-1RCV002183060; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111931755111931755CT111931755-
NM_001931.5(DLAT):c.1703T>C (p.Leu568Ser)1737DLATUncertain significance-1RCV001929350; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111931787111931787TC111931787-
NM_001931.5(DLAT):c.1712T>C (p.Phe571Ser)1737DLATUncertain significancers782810132RCV001040101; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111931796111931796TC11:g.111931796T>C-
NM_001931.5(DLAT):c.1728C>A (p.Phe576Leu)1737DLATPathogenicrs119103240RCV000002191; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111931812111931812CA11:g.111931812C>AClinGen:CA115349,OMIM:608770.0002C1855565 245348 Pyruvate dehydrogenase E2 deficiency;
NM_001931.5(DLAT):c.1735A>G (p.Ile579Val)1737DLATLikely benignrs371341957RCV002176660; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111931819111931819AG111931819-
NM_001931.5(DLAT):c.1743C>T (p.Asn581=)1737DLATLikely benignrs150592352RCV000909935|RCV001455106; NMedGen:CN517202|MONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111931827111931827CT11:g.111931827C>T-
NM_001931.5(DLAT):c.1806_1808dup (p.Asn602_Glu603insAsp)1737DLATUncertain significance-1RCV002006819; NMONDO:MONDO:0009502,MedGen:C1855565,OMIM:245348, Orphanet:765, Orphanet:7924411111931888111931889AAATG111931888-
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000150768 MSeqDR Search EnsemblDLAT11118dihydrolipoamide S-acetyltransferase [Source:HGNC Symbol;Acc:2896]00475

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