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:
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Amino Acid Metabolism, Inborn Errors (D000592)
Parent Node:
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Mitochondrial Diseases (D028361)
..Starting node
..expand
Multiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069)

       Child Nodes:
........expandGlutaric aciduria 2 (C536834)



 Sister Nodes: 
..expand3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784)  LSDB  L: 00105;
..expandAcyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006)  LSDB  L: 00419;
..expandAtaxia and Polyneuropathy, Adult-Onset (C564020)
..expandAtaxia Neuropathy Spectrum (C579922)
..expandBjornstad syndrome (C537633)  LSDB  L: 00084;
..expandCarbamoyl-Phosphate Synthase I Deficiency Disease (D020165)  LSDB  L: 00085;
..expandCarnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)  LSDB  L: 00486;
..expandCarnitine Palmitoyltransferase II Deficiency, Lethal Neonatal (C563463)  LSDB  L: 00487;
..expandChildhood Myocerebrohepatopathy Spectrum (C579990)
..expandCoenzyme Q10 Deficiency (C564403)
..expandCombined Oxidative Phosphorylation Deficiency 4 (C565690)  LSDB  L: 00098;
..expandCombined Oxidative Phosphorylation Deficiency 5 (C567126)  LSDB  L: 00099;
..expandCowden-Like Syndrome (C567337)
..expandCytochrome-c Oxidase Deficiency (D030401) Child2  LSDB C:2 L: 00012;
..expandDeoxyguanosine Kinase Deficiency (C580039)
..expandENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)  LSDB  L: 00014;
..expandENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 (OMIM:617086)  LSDB  L: 00525;
..expandFinnish lethal neonatal metabolic syndrome (C537934)  LSDB  L: 00104;
..expandFriedreich Ataxia (D005621) Child6  LSDB C:1
..expandHypermetabolism due to Defect in Mitochondria (C565498)
..expandHypomyelination, Global Cerebral (C567847)  LSDB  L: 00107;
..expandHypotonia-Cystinuria Syndrome (C564710)  LSDB  L: 00416;
..expandKearns-Sayre Syndrome (D007625) Child1  LSDB  L: 00143;
..expandLeigh Disease (D007888) Child12  LSDB C:3 L: 00015;
..expandLeukodystrophy, Hypomyelinating, 4 (C567390)  LSDB  L: 00421;
..expandLeukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (C567009)  LSDB  L: 00418;
..expandLIPOYLTRANSFERASE 1 DEFICIENCY (OMIM:616299)
..expandMedium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
..expandMitochondrial complex I deficiency (C537475)  LSDB  L: 00011;
..expandMitochondrial Complex II Deficiency (C565375)  LSDB  L: 00016;
..expandMitochondrial Complex III Deficiency (C565128)  LSDB  L: 00018; 00019; 00020; 00021; 00022; 00507; 00508; 00528;
..expandMITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273)  LSDB  L: 00023;
..expandMITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052)  LSDB  L: 00024;
..expandMITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 (OMIM:614053)  LSDB  L: 00025;
..expandMITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615228)  LSDB  L: 00010;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)  LSDB  L: 00031;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)  LSDB  L: 00032;
..expandMitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..expandMitochondrial Myopathies (D017240) Child33  LSDB C:22 L: 00400;
..expandMitochondrial Phosphate Carrier Deficiency (C563665)  LSDB  L: 00040;
..expandMITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741)  LSDB  L: 00041;
..expandMultiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) Child1  LSDB  L: 00439;
..expandMultiple Mitochondrial Dysfunctions Syndrome (C565304)  LSDB  L: 00013; 00043; 00530;
..expandMyopathy with Giant Abnormal Mitochondria (C564971)
..expandMyopathy, Cataract, Hypogonadism Syndrome (C563578)
..expandNavajo neurohepatopathy (C538344) Child1  LSDB C:1 L: 00035;
..expandNoninsulin-dependent diabetes mellitus with deafness (C536246)
..expandOphthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)
..expandOptic Atrophy, Autosomal Dominant (D029241)  LSDB  L: 00073;
..expandOptic Atrophy, Hereditary, Leber (D029242) Child1  LSDB  L: 00072; 00492;
..expandParkinson Disease, Mitochondrial (C564015)  LSDB  L: 00170;
..expandPhosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial (C564890)
..expandProgressive External Ophthalmoplegia With Hypogonadism (C563576)
..expandProgressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575)  LSDB  L: 00117;
..expandProgressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 (C567768)  LSDB  L: 00049;
..expandProximal Myopathy with Focal Depletion of Mitochondria (C563453)
..expandPyruvate Carboxylase Deficiency Disease (D015324) Child1  LSDB  L: 00398;
..expandPyruvate Dehydrogenase Complex Deficiency Disease (D015325) Child4  LSDB C:3 L: 00442;
..expandSarcosinemia (C537236)
..expandSpinocerebellar Ataxia with Epilepsy (C564395)
..expandSuccinate-Coa Ligase Deficiency (C580473)
..expandVDAC Deficiency (C565767)
..expandVLCAD deficiency (C536353)  LSDB  L: 00436;
..expandWolfram Syndrome 2 (C565733)  LSDB  L: 00490;
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:8244
Name:Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Definition:An autosomal recessive disorder of fatty acid oxidation, and branched chain amino acids (AMINO ACIDS, BRANCHED-CHAIN); LYSINE; and CHOLINE catabolism, that is due to defects in either subunit of ELECTRON TRANSFER FLAVOPROTEIN or its dehydrogenase, electron transfer flavoprotein-ubiquinone oxidoreductase (EC 1.5.5.1).
Alternative IDs:DO:DOID:0060358|OMIM:231680
ParentIDs:MESH:D000592|MESH:D028361
TreeNumbers:C16.320.565.100.614 |C18.452.648.100.614 |C18.452.660.612
Synonyms:Aciduria, Ethylmalonic-Adipic |Acidurias, Ethylmalonic-Adipic |Electron Transfer Flavoprotein Alpha Subunit Deficiency |Electron Transfer Flavoprotein Beta Subunit Deficiency |Electron Transfer Flavoprotein Deficiency |Electron Transfer Flavoprotein Dehydroge
Slim Mappings:Genetic disease (inborn)|Metabolic disease
Reference: MedGen: D054069
MeSH: D054069
OMIM: 231680;
MSeqDR LSDB: 00439;  
Genes: ETFA; ETFB; ETFDH;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001999Abnormal facial shape
3 HP:0000078Abnormality of the genital system
4 HP:0000377Abnormality of the pinna
5 HP:0000519Congenital cataract
6 HP:0003490Defective dehydrogenation of isovaleryl CoA and butyryl CoA
7 HP:0005280Depressed nasal bridge
8 HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect
9 HP:0003219Ethylmalonic aciduria
10 HP:0002909Generalized aminoaciduria
11 HP:0002171Gliosis
12 HP:0003530Glutaric acidemia
13 HP:0003150Glutaric aciduria
14 HP:0003076Glycosuria
15 HP:0002614Hepatic periportal necrosis
16 HP:0001397Hepatic steatosis
NAMDC:  Hepatopathy with steatosis or oncocytic changes by liver biopsy
17 HP:0002240Hepatomegaly
18 HP:0000348High forehead
19 HP:0001943Hypoglycemia
20 HP:0001325Hypoglycemic coma
21 HP:0000952Jaundice
22 HP:0000256Macrocephaly
23 HP:0001324Muscle weakness
NAMDC:  Muscle weakness: diffuse
24 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
25 HP:0002018Nausea
26 HP:0003811Neonatal death
27 HP:0001302Pachygyria
28 HP:0000113Polycystic kidney dysplasia
29 HP:0000114Proximal tubulopathy
30 HP:0002089Pulmonary hypoplasia
31 HP:0000803Renal cortical cysts
32 HP:0002098Respiratory distress
33 HP:0000506Telecanthus
34 HP:0002013Vomiting
35 HP:0000260Wide anterior fontanel
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000126.4(ETFA):c.*268A>G2108ETFABenign80292319RCV000390524|RCV001712030; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900157650863276508632NC_000015.9:g.76508632T>CClinGen:CA10642578C0268596 231680 Glutaric aciduria, type 2;
NM_000126.4(ETFA):c.*216A>T2108ETFABenign1803550RCV000313076|RCV001712106; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900157650868476508684NC_000015.9:g.76508684T>AClinGen:CA10642579C0268596 231680 Glutaric aciduria, type 2;
NM_000126.4(ETFA):c.*99G>A2108ETFAUncertain significance140121559RCV000370060; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157650880176508801NC_000015.9:g.76508801C>TClinGen:CA10642581C0268596 231680 Glutaric aciduria, type 2;
NM_000126.4(ETFA):c.*55C>G2108ETFAUncertain significance886051487RCV000277782; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157650884576508845NC_000015.9:g.76508845G>CClinGen:CA10636574C0268596 231680 Glutaric aciduria, type 2;
NM_000126.4(ETFA):c.*46C>T2108ETFAUncertain significance183981964RCV001121507; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765088547650885415:g.76508854G>A-
NM_000126.4(ETFA):c.*27_*30del2108ETFAPathogenic2142101078RCV001844341; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765088707650887376508869-
NC_000015.9:g.(?_76508890)_(76603739_?)del2108ETFAPathogenic-1RCV001941918; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157650889076603739-1-
NC_000015.9:g.(?_76508900)_(76518290_?)del2108ETFAUncertain significance-1RCV003119340; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157650890076518290-
NC_000015.9:g.(?_76508900)_(76603729_?)dup2108ETFAUncertain significance-1RCV003119342; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157650890076603729-
NM_000126.4(ETFA):c.1001G>T (p.Ter334Leu)2108ETFAUncertain significance201424632RCV001913150; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765089017650890176508901-
NM_000126.4(ETFA):c.994A>G (p.Lys332Glu)2108ETFAUncertain significance-1RCV002671703; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157650890876508908NC_000015.9:g.76508908T>C-
NM_000126.4(ETFA):c.981T>G (p.Thr327=)2108ETFALikely benign752246889RCV001438689; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765089217650892176508921-
NM_000126.4(ETFA):c.980C>A (p.Thr327Asn)2108ETFAUncertain significance-1RCV003009403; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157650892276508922NC_000015.9:g.76508922G>T-
NM_000126.4(ETFA):c.974A>G (p.Glu325Gly)2108ETFAUncertain significance-1RCV002838000; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157650892876508928NC_000015.9:g.76508928T>C-
NM_000126.4(ETFA):c.973G>A (p.Glu325Lys)2108ETFAUncertain significance2038898400RCV001973187; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765089297650892976508929-
NM_000126.4(ETFA):c.972T>C (p.Pro324=)2108ETFALikely benign1351662991RCV002198691; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765089307650893076508930-
NM_000126.4(ETFA):c.967G>A (p.Val323Ile)2108ETFAUncertain significance1225887341RCV001053833; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765089357650893515:g.76508935C>T-
NM_000126.4(ETFA):c.964-1G>C2108ETFAUncertain significance757885420RCV000721997; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157650893976508939NC_000015.9:g.76508939C>G-
NM_000126.4(ETFA):c.964-4G>A2108ETFALikely benign777742977RCV002082507; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765089427650894276508942-
NM_000126.4(ETFA):c.964-10T>C2108ETFALikely benign1223890959RCV001407657; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765089487650894876508948-
NM_000126.4(ETFA):c.964-20C>G2108ETFABenign/Likely benign570818940RCV000612313|RCV002063277; NMedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765089587650895815:g.76508958G>CClinGen:CA7673535CN169374 not specified;
NC_000015.9:g.(?_76518170)_(76518290_?)del2108ETFAUncertain significance-1RCV003119339; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157651817076518290-
NM_000126.4(ETFA):c.963+14G>C2108ETFALikely benign1369553684RCV002099285; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765181767651817676518176-
NM_000126.4(ETFA):c.963+9del2108ETFALikely benign2038998662RCV001453870; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765181817651818176518180-
NM_000126.4(ETFA):c.963+8G>A2108ETFALikely benign-1RCV002761451; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157651818276518182NC_000015.9:g.76518182C>T-
NM_000126.4(ETFA):c.963+1del2108ETFAConflicting interpretations of pathogenicity746488455RCV000002715|RCV002496235|RCV003155011; NMONDO:MONDO:0700073,MedGen:C3278154|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN16937415765181897651818976518188OMIM:608053.0005
NM_000126.4(ETFA):c.960T>C (p.Phe320=)2108ETFALikely benign-1RCV002993700; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157651819376518193-
NM_000126.4(ETFA):c.955T>C (p.Leu319=)2108ETFALikely benign-1RCV003080214; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157651819876518198-
NM_000126.4(ETFA):c.951A>G (p.Ala317=)2108ETFALikely benign750192285RCV002206434; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765182027651820276518202-
NM_000126.4(ETFA):c.946G>T (p.Val316Phe)2108ETFAUncertain significance1567195832RCV000707619; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157651820776518207NC_000015.9:g.76518207C>A-C0268596 231680 Glutaric aciduria, type 2;
NM_000126.4(ETFA):c.946G>C (p.Val316Leu)2108ETFAUncertain significance1567195832RCV001891651; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765182077651820776518207-
NM_000126.4(ETFA):c.945A>C (p.Ile315=)2108ETFALikely benign2142108038RCV002172035; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765182087651820876518208-
NM_000126.4(ETFA):c.942A>C (p.Gly314=)2108ETFALikely benign1253828046RCV002081386; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765182117651821176518211-
NM_000126.4(ETFA):c.939T>C (p.Tyr313=)2108ETFALikely benign-1RCV002811908; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157651821476518214-
NM_000126.4(ETFA):c.934G>A (p.Asp312Asn)2108ETFAUncertain significance-1RCV003079632; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157651821976518219NC_000015.9:g.76518219C>T-
NM_000126.4(ETFA):c.932C>T (p.Ala311Val)2108ETFAUncertain significance1263820606RCV001883510; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765182217651822176518221-
NM_000126.4(ETFA):c.931G>T (p.Ala311Ser)2108ETFAUncertain significance372591001RCV000520657|RCV001829514|RCV002525215; NMedGen:CN169374||MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765182227651822215:g.76518222C>AClinGen:CA7673556CN169374 not specified;
NM_000126.4(ETFA):c.919A>G (p.Ile307Val)2108ETFAUncertain significance373896010RCV001365995|RCV001826047; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|15765182347651823476518234-
NM_000126.4(ETFA):c.917C>T (p.Pro306Leu)2108ETFAUncertain significance-1RCV002785705; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157651823676518236NC_000015.9:g.76518236G>A-
NM_000126.4(ETFA):c.909A>G (p.Pro303=)2108ETFALikely benign2142108061RCV002082743; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765182447651824476518244-
NM_000126.4(ETFA):c.891G>C (p.Val297=)2108ETFALikely benign2142108075RCV001473160; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765182627651826276518262-
NM_000126.4(ETFA):c.884_886del (p.Thr295del)2108ETFALikely pathogenic2038999395RCV001175202; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765182677651826915:g.76518267_76518269del-
NM_000126.4(ETFA):c.883-3C>T2108ETFAUncertain significance772701864RCV001277755; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765182737651827315:g.76518273G>A-
NM_000126.4(ETFA):c.883-4A>G2108ETFALikely benign2142108087RCV002201876; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765182747651827476518274-
NM_000126.4(ETFA):c.883-5C>T2108ETFALikely benign-1RCV003068434; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157651827576518275NC_000015.9:g.76518275G>A-
NM_000126.4(ETFA):c.883-6T>C2108ETFALikely benign2142108091RCV001406775; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765182767651827676518276-
NM_000126.4(ETFA):c.883-9dup2108ETFALikely benign2142108094RCV002111228; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765182787651827976518278-
NM_000126.4(ETFA):c.883-9A>G2108ETFALikely benign773894937RCV002086550; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765182797651827976518279-
NM_000126.4(ETFA):c.883-10T>C2108ETFALikely benign1289782242RCV001490762; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765182807651828076518280-
NM_000126.4(ETFA):c.883-14T>A2108ETFALikely benign2038999587RCV002183514; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765182847651828476518284-
NM_000126.4(ETFA):c.883-18T>G2108ETFALikely benign-1RCV002571849; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157651828876518288NC_000015.9:g.76518288A>C-
NC_000015.9:g.(?_76523654)_(76523759_?)del2108ETFAUncertain significance-1RCV003119338; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157652365476523759-
NM_000126.4(ETFA):c.882+15G>A2108ETFALikely benign-1RCV002948324; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157652365976523659NC_000015.9:g.76523659C>T-
NM_000126.4(ETFA):c.882+10C>T2108ETFAConflicting interpretations of pathogenicity2039064081RCV001116619; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765236647652366415:g.76523664G>A-
NM_000126.4(ETFA):c.882+9A>G2108ETFALikely benign373161597RCV001272687|RCV001480517; N|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765236657652366515:g.76523665T>C-
NM_000126.4(ETFA):c.882+8T>C2108ETFALikely benign776847997RCV001467349; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765236667652366676523666-
NM_000126.4(ETFA):c.882+7G>C2108ETFALikely benign753882653RCV001447666; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765236677652366776523667-
NM_000126.4(ETFA):c.882+7G>A2108ETFALikely benign753882653RCV001430795; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765236677652366776523667-
NM_000126.4(ETFA):c.882+7G>T2108ETFALikely benign753882653RCV002148677; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765236677652366776523667-
NM_000126.4(ETFA):c.882+6T>G2108ETFAUncertain significance746311782RCV000798664|RCV001830716; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|15765236687652366815:g.76523668A>C-
NM_000126.4(ETFA):c.882+5T>C2108ETFAConflicting interpretations of pathogenicity377259058RCV000605516|RCV001860309; NMedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765236697652366915:g.76523669A>GClinGen:CA7673586CN169374 not specified;
NM_000126.4(ETFA):c.882+3A>G2108ETFAUncertain significance-1RCV002664099; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157652367176523671NC_000015.9:g.76523671T>C-
NM_000126.4(ETFA):c.876C>A (p.Asp292Glu)2108ETFAUncertain significance778807824RCV001277756; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765236807652368015:g.76523680G>T-
NM_000126.4(ETFA):c.871A>C (p.Lys291Gln)2108ETFAUncertain significance1184566559RCV000699658; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157652368576523685NC_000015.9:g.76523685T>G-C0268596 231680 Glutaric aciduria, type 2;
NM_000126.4(ETFA):c.866G>C (p.Gly289Ala)2108ETFAUncertain significance-1RCV003090067; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157652369076523690NC_000015.9:g.76523690C>G-
NM_000126.4(ETFA):c.838A>C (p.Ile280Leu)2108ETFAUncertain significance-1RCV003117210; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157652371876523718NC_000015.9:g.76523718T>G-
NM_000126.4(ETFA):c.837A>G (p.Gly279=)2108ETFALikely benign772717284RCV000979557; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765237197652371915:g.76523719T>C-
NM_000126.4(ETFA):c.837A>C (p.Gly279=)2108ETFALikely benign772717284RCV001409660; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765237197652371976523719-
NM_000126.4(ETFA):c.826_833dup (p.Gly279fs)2108ETFAPathogenic/Likely pathogenic-1RCV002614093; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157652372276523723NC_000015.9:g.76523724_76523731dup-
NM_000126.4(ETFA):c.831T>C (p.Ala277=)2108ETFALikely benign371149279RCV002133135; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765237257652372576523725-
NM_000126.4(ETFA):c.826A>C (p.Ile276Leu)2108ETFAConflicting interpretations of pathogenicity141200145RCV000185869|RCV000527908; NMedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765237307652373015:g.76523730T>GClinGen:CA312487C0268596 231680 Glutaric aciduria, type 2;
NM_000126.4(ETFA):c.822T>C (p.Leu274=)2108ETFALikely benign2141463797RCV001486957; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765237347652373476523734-
NM_000126.4(ETFA):c.822T>A (p.Leu274=)2108ETFALikely benign2141463797RCV002213239; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765237347652373476523734-
NM_000126.4(ETFA):c.819A>G (p.Glu273=)2108ETFALikely benign-1RCV002717351; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157652373776523737-
NM_000126.4(ETFA):c.817-7A>G2108ETFALikely benign-1RCV002819819; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157652374676523746NC_000015.9:g.76523746T>C-
NM_000126.4(ETFA):c.817-8T>G2108ETFALikely benign-1RCV002828429; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157652374776523747NC_000015.9:g.76523747A>C-
NM_000126.4(ETFA):c.817-12C>T2108ETFALikely benign752918296RCV001722659|RCV002531509; NMedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765237517652375115:g.76523751G>AClinGen:CA7673599CN169374 not specified;
NM_000126.4(ETFA):c.817-16A>G2108ETFALikely benign1176510084RCV002167501; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765237557652375576523755-
NM_000126.4(ETFA):c.817-32A>G2108ETFABenign62030234RCV001526776|RCV001692437; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C366190015765237717652377176523771-
NM_000126.4(ETFA):c.817-3173C>G2108ETFABenign2456057RCV001521894; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765269127652691276526912-
NM_000126.4(ETFA):c.816+13A>G2108ETFALikely benign-1RCV002776522; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157656674076566740NC_000015.9:g.76566740T>C-
NC_000015.9:g.(?_76566743)_(76588088_?)del2108ETFALikely pathogenic-1RCV001986156; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157656674376588088-1-
NM_000126.4(ETFA):c.816+9T>A2108ETFALikely benign2141516215RCV002186958; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765667447656674476566744-
NM_000126.4(ETFA):c.816+8T>A2108ETFALikely benign759412407RCV000976820; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765667457656674515:g.76566745A>T-
NM_000126.4(ETFA):c.813A>C (p.Ala271=)2108ETFALikely benign2141516230RCV001461088; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765667567656675676566756-
NM_000126.4(ETFA):c.806TAG[1] (p.Val270del)2108ETFAConflicting interpretations of pathogenicity779140971RCV001577514|RCV001780410|RCV002267117; NMedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MONDO:MONDO:0700073,MedGen:C327815415765667587656676076566757OMIM:608053.0004
NM_000126.4(ETFA):c.811G>A (p.Ala271Thr)2108ETFAUncertain significance-1RCV003121529; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157656675876566758NC_000015.9:g.76566758C>T-
NM_000126.4(ETFA):c.810A>G (p.Val270=)2108ETFALikely benign-1RCV003014526; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157656675976566759-
NM_000126.4(ETFA):c.805A>T (p.Ile269Leu)2108ETFAUncertain significance-1RCV002794781; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157656676476566764NC_000015.9:g.76566764T>A-
NM_000126.4(ETFA):c.798G>A (p.Thr266=)2108ETFALikely benign764478797RCV001398033; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765667717656677115:g.76566771C>T-
NM_000126.4(ETFA):c.797C>T (p.Thr266Met)2108ETFAPathogenic119458970RCV000002712|RCV000185868|RCV000332032; NMONDO:MONDO:0700073,MedGen:C3278154|MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765667727656677215:g.76566772G>AUniProtKB:P13804#VAR_002368,OMIM:608053.0002,ClinGen:CA115638C3278154 Glutaric acidemia IIA;
NM_000126.4(ETFA):c.793C>T (p.Gln265Ter)2108ETFAPathogenic757409121RCV001381065; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765667767656677676566776-
NM_000126.4(ETFA):c.786A>G (p.Gln262=)2108ETFALikely benign-1RCV003074519; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157656678376566783-
NM_000126.4(ETFA):c.780C>T (p.Asp260=)2108ETFALikely benign-1RCV002834747; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157656678976566789-
NM_000126.4(ETFA):c.775A>G (p.Asn259Asp)2108ETFAUncertain significance-1RCV002786443; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157656679476566794NC_000015.9:g.76566794T>C-
NM_000126.4(ETFA):c.771T>G (p.Val257=)2108ETFALikely benign138255469RCV002119776; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765667987656679876566798-
NM_000126.4(ETFA):c.765C>A (p.Gly255=)2108ETFALikely benign2141516311RCV001396954; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765668047656680476566804-
NM_000126.4(ETFA):c.759T>C (p.Asp253=)2108ETFALikely benign142970498RCV001277757; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765668107656681015:g.76566810A>G-
NM_000126.4(ETFA):c.746G>A (p.Arg249His)2108ETFAUncertain significance886051488RCV000325820|RCV001835781|RCV002520975; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791||MeSH:D030342,MedGen:C0950123157656682376566823NC_000015.9:g.76566823C>TClinGen:CA10647414C0268596 231680 Glutaric aciduria, type 2;
NM_000126.4(ETFA):c.745C>T (p.Arg249Cys)2108ETFAUncertain significance1353938548RCV001955917; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765668247656682476566824-
NM_000126.4(ETFA):c.734-10T>C2108ETFALikely benign2141516395RCV002096724; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765668457656684576566845-
NM_000126.4(ETFA):c.734-11T>C2108ETFALikely benign771704448RCV002180406; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765668467656684676566846-
NM_000126.4(ETFA):c.734-20C>A2108ETFABenign2460160RCV000124910|RCV001518157; NMedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765668557656685515:g.76566855G>TClinGen:CA290760CN169374 not specified;
NM_000126.4(ETFA):c.733+38T>C2108ETFABenign78052129RCV001526777; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765760607657606076576060-
NM_000126.4(ETFA):c.733+18A>C2108ETFALikely benign-1RCV002953583; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157657608076576080NC_000015.9:g.76576080T>G-
NM_000126.4(ETFA):c.733+16T>G2108ETFALikely benign755381395RCV002089419; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765760827657608276576082-
NM_000126.4(ETFA):c.733+10T>C2108ETFALikely benign1298665818RCV000982097; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765760887657608815:g.76576088A>G-
NM_000126.4(ETFA):c.733+8T>A2108ETFALikely benign-1RCV002843083; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157657609076576090NC_000015.9:g.76576090A>T-
NM_000126.4(ETFA):c.731C>T (p.Ala244Val)2108ETFAUncertain significance-1RCV003319149; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157657610076576100-
NM_000126.4(ETFA):c.728C>G (p.Ala243Gly)2108ETFAUncertain significance202121622RCV001116620; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765761037657610315:g.76576103G>C-
NM_000126.4(ETFA):c.723A>G (p.Leu241=)2108ETFALikely benign2141528126RCV001400483; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765761087657610876576108-
NM_000126.4(ETFA):c.720A>G (p.Gln240=)2108ETFAConflicting interpretations of pathogenicity756864231RCV000982193; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765761117657611115:g.76576111T>C-
NM_000126.4(ETFA):c.706G>T (p.Asp236Tyr)2108ETFAUncertain significance2141528171RCV001365627; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765761257657612576576125-
NM_000126.4(ETFA):c.702A>G (p.Leu234=)2108ETFALikely benign775620228RCV000973823|RCV001827061; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|15765761297657612915:g.76576129T>C-
NM_000126.4(ETFA):c.700T>C (p.Leu234=)2108ETFALikely benign-1RCV003067280; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157657613176576131-
NM_000126.4(ETFA):c.693dup (p.Lys232Ter)2108ETFAPathogenic754050501RCV001993163; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765761377657613876576137-
NM_000126.4(ETFA):c.689dup (p.Asn230fs)2108ETFALikely pathogenic-1RCV003475602; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157657614176576142-
NM_000126.4(ETFA):c.683G>A (p.Gly228Glu)2108ETFAUncertain significance-1RCV002716243; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157657614876576148NC_000015.9:g.76576148C>T-
NM_000126.4(ETFA):c.682G>A (p.Gly228Arg)2108ETFAUncertain significance1390694827RCV002016468; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765761497657614976576149-
NM_000126.4(ETFA):c.678G>A (p.Lys226=)2108ETFALikely benign774023966RCV002206351; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765761537657615376576153-
NM_000126.4(ETFA):c.668G>A (p.Arg223Gln)2108ETFAUncertain significance-1RCV003083699|RCV003235767; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN517202157657616376576163NC_000015.9:g.76576163C>T-
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter)2108ETFAConflicting interpretations of pathogenicity769976586RCV000493941|RCV000779174|RCV001829411; NMedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|15765761647657616415:g.76576164G>AClinGen:CA7673658CN517202 not provided;
NM_000126.4(ETFA):c.667C>A (p.Arg223=)2108ETFALikely benign769976586RCV001494462; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765761647657616476576164-
NM_000126.4(ETFA):c.665-1G>A2108ETFALikely pathogenic-1RCV003475608; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157657616776576167-
NM_000126.4(ETFA):c.665-4T>C2108ETFALikely benign-1RCV002666978; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157657617076576170NC_000015.9:g.76576170A>G-
NM_000126.4(ETFA):c.665-13C>G2108ETFALikely benign-1RCV003054731; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157657617976576179NC_000015.9:g.76576179G>C-
NM_000126.4(ETFA):c.665-17dup2108ETFABenign144403864RCV002087970; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765761827657618376576182-
NM_000126.4(ETFA):c.665-17del2108ETFABenign144403864RCV001511263; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765761837657618376576182-
NM_000126.4(ETFA):c.665-17T>C2108ETFALikely benign-1RCV003088876; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157657618376576183NC_000015.9:g.76576183A>G-
NM_000126.4(ETFA):c.664+8A>T2108ETFALikely benign-1RCV003054493; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157657797076577970NC_000015.9:g.76577970T>A-
NM_000126.4(ETFA):c.658_664+3del2108ETFALikely pathogenic-1RCV002908070; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157657797576577984NC_000015.9:g.76577983_76577992del-
NM_000126.4(ETFA):c.664+2dup2108ETFALikely pathogenic-1RCV003475607; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157657797576577976-
NM_000126.4(ETFA):c.664+1G>A2108ETFALikely pathogenic2039698086RCV001069226; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765779777657797715:g.76577977C>T-
NM_000126.4(ETFA):c.654G>A (p.Val218=)2108ETFALikely benign779655385RCV002126984; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765779887657798876577988-
NM_000126.4(ETFA):c.650_653dup (p.Val219fs)2108ETFALikely pathogenic-1RCV003475605; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157657798876577989-
NM_000126.4(ETFA):c.632_640del (p.Glu211_Thr213del)2108ETFALikely pathogenic-1RCV002281668; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765780027657801076578001-
NM_000126.4(ETFA):c.631G>A (p.Glu211Lys)2108ETFAUncertain significance-1RCV002592413; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157657801176578011NC_000015.9:g.76578011C>T-
NM_000126.4(ETFA):c.625C>T (p.Arg209Ter)2108ETFAPathogenic/Likely pathogenic199763682RCV000254926|RCV001228210; NMedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765780177657801715:g.76578017G>AClinGen:CA7673697CN517202 not provided;
NM_000126.4(ETFA):c.625del (p.Arg209fs)2108ETFAPathogenic/Likely pathogenic1209473816RCV001058139; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765780177657801715:g.76578017_76578017del-
NM_000126.4(ETFA):c.625C>G (p.Arg209Gly)2108ETFAUncertain significance199763682RCV001941093; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765780177657801776578017-
NM_000126.4(ETFA):c.624del (p.Arg209fs)2108ETFAPathogenic1596218695RCV000803822; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765780187657801815:g.76578018_76578018del-
NM_000126.4(ETFA):c.603C>T (p.Asp201=)2108ETFALikely benign-1RCV003042646; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157657803976578039-
NM_000126.4(ETFA):c.592G>C (p.Glu198Gln)2108ETFAUncertain significance2141530756RCV001949849; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765780507657805076578050-
NM_000126.4(ETFA):c.591A>C (p.Ser197=)2108ETFALikely benign1327483238RCV001434339; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765780517657805176578051-
NM_000126.4(ETFA):c.579A>G (p.Pro193=)2108ETFALikely benign936157234RCV001499373; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765780637657806376578063-
NM_000126.4(ETFA):c.564A>G (p.Ala188=)2108ETFALikely benign752534473RCV001462006; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765780787657807876578078-
NM_000126.4(ETFA):c.563-4G>A2108ETFALikely benign-1RCV003049222; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157657808376578083NC_000015.9:g.76578083C>T-
NM_000126.4(ETFA):c.563-5T>C2108ETFALikely benign2141530823RCV002089301; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765780847657808476578084-
NM_000126.4(ETFA):c.563-6A>G2108ETFALikely benign2141530825RCV001489399; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765780857657808576578085-
NM_000126.4(ETFA):c.563-8G>A2108ETFALikely benign777484688RCV002093451; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765780877657808776578087-
NM_000126.4(ETFA):c.563-9T>C2108ETFALikely benign-1RCV002922202; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157657808876578088NC_000015.9:g.76578088A>G-
NM_000126.4(ETFA):c.562+16G>T2108ETFALikely benign2141531505RCV002190237; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765786967657869676578696-
NM_000126.4(ETFA):c.562+11A>T2108ETFABenign143834701RCV000272341|RCV000443607; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN169374157657870176578701NC_000015.9:g.76578701T>AClinGen:CA7673736C0268596 231680 Glutaric aciduria, type 2;
NM_000126.4(ETFA):c.562+10C>G2108ETFALikely benign-1RCV003022372; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157657870276578702NC_000015.9:g.76578702G>C-
NM_000126.4(ETFA):c.562+8T>C2108ETFALikely benign-1RCV002847011; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157657870476578704NC_000015.9:g.76578704A>G-
NM_000126.4(ETFA):c.562+8T>G2108ETFALikely benign-1RCV002866412; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157657870476578704NC_000015.9:g.76578704A>C-
NM_000126.4(ETFA):c.560A>G (p.Lys187Arg)2108ETFAUncertain significance2141531541RCV001365494|RCV001826042; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|15765787147657871476578714-
NM_000126.4(ETFA):c.558A>G (p.Glu186=)2108ETFALikely benign2141531548RCV001442037; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765787167657871676578716-
NM_000126.4(ETFA):c.557A>G (p.Glu186Gly)2108ETFAUncertain significance986861899RCV002050850|RCV002545353|RCV003319480; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C0950123|MedGen:C366190015765787177657871776578717-
NM_000126.4(ETFA):c.556G>T (p.Glu186Ter)2108ETFAPathogenic-1RCV002862723; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157657871876578718NC_000015.9:g.76578718C>A-
NM_000126.4(ETFA):c.541G>A (p.Gly181Ser)2108ETFAUncertain significance374127169RCV001277758; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765787337657873315:g.76578733C>T-
NM_000126.4(ETFA):c.540C>G (p.Gly180=)2108ETFALikely benign146133196RCV001454088|RCV001619907; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C366190015765787347657873476578734-
NM_000126.4(ETFA):c.540C>T (p.Gly180=)2108ETFALikely benign146133196RCV001485315; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765787347657873476578734-
NM_000126.4(ETFA):c.533C>G (p.Thr178Arg)2108ETFAConflicting interpretations of pathogenicity140169311RCV000320514|RCV000726964; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN51720215765787417657874115:g.76578741G>CClinGen:CA312477C0268596 231680 Glutaric aciduria, type 2;
NM_000126.4(ETFA):c.521A>C (p.Asp174Ala)2108ETFAUncertain significance1396125343RCV001941259; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765787537657875376578753-
NM_000126.4(ETFA):c.521A>G (p.Asp174Gly)2108ETFAUncertain significance-1RCV002716264|RCV002716263; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157657875376578753NC_000015.9:g.76578753T>C-
NM_000126.4(ETFA):c.516del (p.Phe173fs)2108ETFALikely pathogenic-1RCV003475597; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157657875876578758-
NM_000126.4(ETFA):c.513A>G (p.Thr171=)2108ETFALikely benign-1RCV002861981; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157657876176578761-
NM_000126.4(ETFA):c.512C>T (p.Thr171Ile)2108ETFABenign/Likely benign1801591RCV000078134|RCV000377415|RCV000676979; NMedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C366190015765787627657876215:g.76578762G>AClinGen:CA285317,UniProtKB:P13804#VAR_008547C0268596 231680 Glutaric aciduria, type 2;
NM_000126.4(ETFA):c.509G>A (p.Gly170Glu)2108ETFAUncertain significance780998008RCV000795167; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765787657657876515:g.76578765C>T-
NM_000126.4(ETFA):c.506G>A (p.Arg169His)2108ETFAUncertain significance375660532RCV001242777|RCV001829002; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|15765787687657876815:g.76578768C>T-
NM_000126.4(ETFA):c.505C>T (p.Arg169Cys)2108ETFAUncertain significance369713466RCV001349016|RCV001831148|RCV002548462; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791||MeSH:D030342,MedGen:C095012315765787697657876976578769-
NM_000126.4(ETFA):c.495_496del (p.Ser167fs)2108ETFAPathogenic/Likely pathogenic1298299792RCV000534299|RCV003403271; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|157657877876578779NC_000015.9:g.76578778AC[1]ClinGen:CA619182995C0268596 231680 Glutaric aciduria, type 2;
NM_000126.4(ETFA):c.495G>A (p.Val165=)2108ETFALikely benign-1RCV003047311; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157657877976578779-
NM_000126.4(ETFA):c.489G>C (p.Val163=)2108ETFALikely benign1294335935RCV002141361; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765787857657878576578785-
NM_000126.4(ETFA):c.481G>A (p.Glu161Lys)2108ETFAUncertain significance-1RCV002811916; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157657879376578793NC_000015.9:g.76578793C>T-
NM_000126.4(ETFA):c.478del (p.Asp160fs)2108ETFAPathogenic2039705645RCV001390288; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765787967657879676578795-
NM_000126.4(ETFA):c.471G>A (p.Val157=)2108ETFALikely benign-1RCV002599073; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157657880376578803-
NM_000126.4(ETFA):c.470T>G (p.Val157Gly)2108ETFAPathogenic/Likely pathogenic119458969RCV000002711|RCV002281690; NMONDO:MONDO:0700073,MedGen:C3278154|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765788047657880415:g.76578804A>CClinGen:CA115637,UniProtKB:P13804#VAR_002367,OMIM:608053.0001C3278154 Glutaric acidemia IIA;
NM_000126.4(ETFA):c.468A>C (p.Thr156=)2108ETFALikely benign775043427RCV002153896; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765788067657880676578806-
NM_000126.4(ETFA):c.467C>T (p.Thr156Ile)2108ETFAUncertain significance199597352RCV001920158; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765788077657880776578807-
NM_000126.4(ETFA):c.462A>C (p.Leu154=)2108ETFALikely benign2039705956RCV002140921; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765788127657881276578812-
NM_000126.4(ETFA):c.461dup (p.Cys155fs)2108ETFAPathogenic-1RCV002816367; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157657881276578813NC_000015.9:g.76578813dup-
NM_000126.4(ETFA):c.461T>C (p.Leu154Pro)2108ETFAUncertain significance1286837897RCV001897174; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765788137657881376578813-
NM_000126.4(ETFA):c.457G>C (p.Ala153Pro)2108ETFAUncertain significance1398343360RCV001217994|RCV001828734; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|15765788177657881715:g.76578817C>G-
NM_000126.4(ETFA):c.456T>C (p.Asn152=)2108ETFALikely benign2141531775RCV002081466; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765788187657881876578818-
NM_000126.4(ETFA):c.452-2A>G2108ETFALikely pathogenic2141531787RCV002031943; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765788247657882476578824-
NM_000126.4(ETFA):c.452-9A>G2108ETFALikely benign-1RCV002705871; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157657883176578831NC_000015.9:g.76578831T>C-
NM_000126.4(ETFA):c.452-11del2108ETFALikely benign764215608RCV000600425|RCV002529565; NMedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765788337657883315:g.76578833_76578833delClinGen:CA7673751CN169374 not specified;
NM_000126.4(ETFA):c.451+19T>C2108ETFALikely benign1301022193RCV002202496; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765801687658016876580168-
NM_000126.4(ETFA):c.451+14_451+17del2108ETFALikely benign2039716961RCV002217797; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765801707658017376580169-
NM_000126.4(ETFA):c.451+14G>A2108ETFABenign/Likely benign557684539RCV000424816|RCV002062404; NMedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765801737658017315:g.76580173C>TClinGen:CA7673761CN169374 not specified;
NM_000126.4(ETFA):c.451+12A>G2108ETFALikely benign-1RCV002638517; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658017576580175NC_000015.9:g.76580175T>C-
NM_000126.4(ETFA):c.451+11A>C2108ETFALikely benign-1RCV002867352; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658017676580176NC_000015.9:g.76580176T>G-
NC_000015.9:g.(?_76580177)_(76585051_?)del2108ETFAPathogenic-1RCV003119341; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658017776585051-
NM_000126.4(ETFA):c.451+1G>A2108ETFALikely pathogenic-1RCV003475610; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658018676580186-
NM_000126.4(ETFA):c.442A>G (p.Ile148Val)2108ETFAConflicting interpretations of pathogenicity199673198RCV000224700|RCV001081384|RCV001272688; NMedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|15765801967658019615:g.76580196T>CClinGen:CA7673764CN517202 not provided;
NM_000126.4(ETFA):c.441T>A (p.Thr147=)2108ETFALikely benign2141533484RCV002167932; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765801977658019776580197-
NM_000126.4(ETFA):c.438A>G (p.Arg146=)2108ETFALikely benign-1RCV002866366; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658020076580200-
NM_000126.4(ETFA):c.435G>A (p.Val145=)2108ETFALikely benign2141533487RCV001490258; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765802037658020376580203-
NM_000126.4(ETFA):c.431T>C (p.Phe144Ser)2108ETFAUncertain significance755055339RCV001830429|RCV001751667|RCV001340865; N|MedGen:CN517202|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765802077658020776580207-
NM_000126.4(ETFA):c.429A>C (p.Thr143=)2108ETFALikely benign2141533504RCV002220288; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765802097658020976580209-
NM_000126.4(ETFA):c.429A>G (p.Thr143=)2108ETFALikely benign-1RCV002858691; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658020976580209-
NM_000126.4(ETFA):c.427dup (p.Thr143fs)2108ETFAPathogenic2039717357RCV001919517; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765802107658021176580210-
NM_000126.4(ETFA):c.423T>C (p.Pro141=)2108ETFALikely benign2141533520RCV001417189; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765802157658021576580215-
NM_000126.4(ETFA):c.405C>G (p.Ile135Met)2108ETFAUncertain significance-1RCV002304361; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765802337658023376580233-
NM_000126.4(ETFA):c.393G>A (p.Pro131=)2108ETFALikely benign769299291RCV001419113; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765802457658024576580245-
NM_000126.4(ETFA):c.392C>T (p.Pro131Leu)2108ETFAUncertain significance1323414196RCV001300516; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765802467658024676580246-
NM_000126.4(ETFA):c.388G>A (p.Ala130Thr)2108ETFAUncertain significance-1RCV003029545; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658025076580250NC_000015.9:g.76580250C>T-
NM_000126.4(ETFA):c.384G>A (p.Glu128=)2108ETFALikely benign-1RCV002695503; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658025476580254-
NM_000126.4(ETFA):c.379C>T (p.Leu127Phe)2108ETFAUncertain significance910012804RCV001198108; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765802597658025915:g.76580259G>A-
NM_000126.4(ETFA):c.375_379delinsAAA (p.Lys126fs)2108ETFALikely pathogenic-1RCV003475603; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658025976580263-
NM_000126.4(ETFA):c.371_372dup (p.Ala125fs)2108ETFALikely pathogenic-1RCV003476349; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658026576580266-
NM_000126.4(ETFA):c.372A>C (p.Ala124=)2108ETFALikely benign-1RCV002811402; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658026676580266-
NM_000126.4(ETFA):c.369dup (p.Ala124fs)2108ETFAPathogenic-1RCV002867627; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658026876580269NC_000015.9:g.76580269dup-
NM_000126.4(ETFA):c.369A>T (p.Val123=)2108ETFALikely benign-1RCV002861320; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658026976580269-
NM_000126.4(ETFA):c.367G>A (p.Val123Ile)2108ETFAUncertain significance886051489RCV000266331; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658027176580271NC_000015.9:g.76580271C>TClinGen:CA10642583C0268596 231680 Glutaric aciduria, type 2;
NM_000126.4(ETFA):c.366A>G (p.Arg122=)2108ETFAConflicting interpretations of pathogenicity2039718120RCV001118067; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765802727658027215:g.76580272T>C-
NM_000126.4(ETFA):c.365G>A (p.Arg122Lys)2108ETFALikely pathogenic-1RCV003475600; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658027376580273-
NM_000126.4(ETFA):c.363C>T (p.Pro121=)2108ETFALikely benign-1RCV002627861; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658027576580275-
NM_000126.4(ETFA):c.358T>C (p.Leu120=)2108ETFALikely benign2141533653RCV001477514; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765802807658028076580280-
NM_000126.4(ETFA):c.354C>T (p.Asn118=)2108ETFALikely benign761728625RCV001478848; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765802847658028476580284-
NM_000126.4(ETFA):c.352-2A>G2108ETFALikely pathogenic-1RCV002982147; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658028876580288NC_000015.9:g.76580288T>C-
NM_000126.4(ETFA):c.352-8G>T2108ETFALikely benign767560884RCV001408371; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765802947658029476580294-
NM_000126.4(ETFA):c.351+17T>C2108ETFABenign/Likely benign138629105RCV000124908|RCV001519264|RCV003398743; NMedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900157658475576584755NC_000015.9:g.76584755A>GClinGen:CA290759CN169374 not specified;
NM_000126.4(ETFA):c.351+12G>A2108ETFAUncertain significance2039773989RCV001118068; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765847607658476015:g.76584760C>T-
NM_000126.4(ETFA):c.351+10T>C2108ETFALikely benign768357479RCV002118755; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765847627658476276584762-
NM_000126.4(ETFA):c.351+9G>A2108ETFALikely benign2039774067RCV001277759; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765847637658476315:g.76584763C>T-
NM_000126.4(ETFA):c.351+8G>A2108ETFALikely benign374723922RCV001431545; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765847647658476476584764-
NM_000126.4(ETFA):c.351+8G>C2108ETFALikely benign374723922RCV002115186; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765847647658476476584764-
NM_000126.4(ETFA):c.348A>G (p.Gly116=)2108ETFALikely benign2141539896RCV002134858; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765847757658477576584775-
NM_000126.4(ETFA):c.346G>A (p.Gly116Arg)2108ETFALikely pathogenic119458971RCV000002713|RCV003472959; NMONDO:MONDO:0700073,MedGen:C3278154|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765847777658477715:g.76584777C>TClinGen:CA115639,UniProtKB:P13804#VAR_002366,OMIM:608053.0003C3278154 Glutaric acidemia IIA;
NM_000126.4(ETFA):c.345C>T (p.Phe115=)2108ETFALikely benign760557143RCV001434740; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765847787658477876584778-
NM_000126.4(ETFA):c.345C>A (p.Phe115Leu)2108ETFAUncertain significance-1RCV002823822; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658477876584778NC_000015.9:g.76584778G>T-
NM_000126.4(ETFA):c.342C>T (p.Ala114=)2108ETFALikely benign1306072739RCV000979472; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765847817658478115:g.76584781G>A-
NM_000126.4(ETFA):c.334G>A (p.Ala112Thr)2108ETFAUncertain significance-1RCV002653197; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658478976584789NC_000015.9:g.76584789C>T-
NM_000126.4(ETFA):c.334G>T (p.Ala112Ser)2108ETFAUncertain significance-1RCV002794825; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658478976584789NC_000015.9:g.76584789C>A-
NM_000126.4(ETFA):c.298_325del (p.Gln100fs)2108ETFALikely pathogenic-1RCV003467944; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658479876584825-
NM_000126.4(ETFA):c.324C>A (p.Ile108=)2108ETFALikely benign753701756RCV002087390; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765847997658479976584799-
NM_000126.4(ETFA):c.323T>A (p.Ile108Asn)2108ETFAUncertain significance1414148078RCV000696645|RCV001825367; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|157658480076584800NC_000015.9:g.76584800A>T-C0268596 231680 Glutaric aciduria, type 2;
NM_000126.4(ETFA):c.323T>C (p.Ile108Thr)2108ETFAUncertain significance-1RCV002791315; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658480076584800NC_000015.9:g.76584800A>G-
NM_000126.4(ETFA):c.319_322del (p.His107fs)2108ETFAPathogenic/Likely pathogenic866218814RCV001781054; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765848017658480476584800-
NM_000126.4(ETFA):c.321_322del (p.Ile108fs)2108ETFAPathogenic866218814RCV001939556; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765848017658480276584800-
NM_000126.4(ETFA):c.321C>T (p.His107=)2108ETFALikely benign368550471RCV001277760; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765848027658480215:g.76584802G>A-
NM_000126.4(ETFA):c.300G>T (p.Gln100His)2108ETFAUncertain significance948361766RCV001912666; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765848237658482376584823-
NM_000126.4(ETFA):c.297T>C (p.Thr99=)2108ETFALikely benign2141540022RCV002133867; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765848267658482676584826-
NM_000126.4(ETFA):c.295A>G (p.Thr99Ala)2108ETFAUncertain significance-1RCV002629837; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658482876584828NC_000015.9:g.76584828T>C-
NM_000126.4(ETFA):c.294A>C (p.Ala98=)2108ETFALikely benign1458002715RCV001424599; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765848297658482976584829-
NM_000126.4(ETFA):c.285del (p.Ile96fs)2108ETFAPathogenic2039775781RCV001987524; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765848387658483876584837-
NM_000126.4(ETFA):c.284dup (p.Leu95fs)2108ETFAPathogenic/Likely pathogenic-1RCV002942141; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658483876584839NC_000015.9:g.76584840dup-
NM_000126.4(ETFA):c.283T>C (p.Leu95=)2108ETFALikely benign759065701RCV001405803; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765848407658484076584840-
NM_000126.4(ETFA):c.273A>G (p.Glu91=)2108ETFALikely benign1043494451RCV001481733; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765848507658485076584850-
NM_000126.4(ETFA):c.269-5C>T2108ETFALikely benign2039776155RCV001484817; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765848597658485976584859-
NM_000126.4(ETFA):c.269-8A>G2108ETFAUncertain significance1440046169RCV001970276; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765848627658486276584862-
NM_000126.4(ETFA):c.269-15G>A2108ETFALikely benign371793833RCV002090358; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765848697658486976584869-
NM_000126.4(ETFA):c.268+18A>G2108ETFALikely benign757775846RCV002085223; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765849427658494276584942-
NM_000126.4(ETFA):c.268+11C>G2108ETFALikely benign-1RCV002976366; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658494976584949NC_000015.9:g.76584949G>C-
NM_000126.4(ETFA):c.268+3G>A2108ETFAUncertain significance1160396237RCV001118069; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765849577658495715:g.76584957C>T-
NM_000126.4(ETFA):c.268+1G>A2108ETFALikely pathogenic-1RCV003104196; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658495976584959NC_000015.9:g.76584959C>T-
NM_000126.4(ETFA):c.268+1G>C2108ETFALikely pathogenic-1RCV003475604; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658495976584959-
NM_000126.4(ETFA):c.266del (p.Pro89fs)2108ETFALikely pathogenic-1RCV003475606; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658496276584962-
NM_000126.4(ETFA):c.265C>T (p.Pro89Ser)2108ETFAUncertain significance2039778041RCV001313856; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765849637658496376584963-
NM_000126.4(ETFA):c.264T>G (p.Leu88=)2108ETFALikely benign1405829462RCV001403966; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765849647658496476584964-
NM_000126.4(ETFA):c.264T>A (p.Leu88=)2108ETFALikely benign1405829462RCV002142479; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765849647658496476584964-
NM_000126.4(ETFA):c.263T>C (p.Leu88Pro)2108ETFAUncertain significance1400343293RCV001931176; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765849657658496576584965-
NM_000126.4(ETFA):c.245A>T (p.Asp82Val)2108ETFAUncertain significance-1RCV002620893; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658498376584983NC_000015.9:g.76584983T>A-
NM_000126.4(ETFA):c.242A>C (p.His81Pro)2108ETFAUncertain significance-1RCV003140452; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658498676584986NC_000015.9:g.76584986T>G-
NM_000126.4(ETFA):c.240G>A (p.Gln80=)2108ETFALikely benign2141540395RCV001401778; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765849887658498876584988-
NM_000126.4(ETFA):c.238C>T (p.Gln80Ter)2108ETFALikely pathogenic-1RCV003475601; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658499076584990-
NM_000126.4(ETFA):c.228T>C (p.Val76=)2108ETFALikely benign1277270558RCV001495933; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765850007658500076585000-
NM_000126.4(ETFA):c.226del (p.Val76fs)2108ETFALikely pathogenic-1RCV003475598; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658500276585002-
NM_000126.4(ETFA):c.222A>G (p.Ala74=)2108ETFALikely benign2141540424RCV001506009; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765850067658500676585006-
NM_000126.4(ETFA):c.218T>C (p.Ile73Thr)2108ETFAUncertain significance2039778846RCV001277761; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765850107658501015:g.76585010A>G-
NM_000126.4(ETFA):c.215G>A (p.Gly72Asp)2108ETFAUncertain significance758004001RCV000185866|RCV001241625|RCV002516966; NMedGen:CN517202|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C095012315765850137658501315:g.76585013C>TClinGen:CA312483CN169374 not specified;
NM_000126.4(ETFA):c.210A>G (p.Val70=)2108ETFALikely benign1274661227RCV002164724; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765850187658501876585018-
NM_000126.4(ETFA):c.210A>T (p.Val70=)2108ETFALikely benign-1RCV002837893; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658501876585018-
NM_000126.4(ETFA):c.203_204del (p.Leu67_Cys68insTer)2108ETFALikely pathogenic-1RCV003476350; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658502476585025-
NM_000126.4(ETFA):c.201C>G (p.Leu67=)2108ETFALikely benign1250916782RCV001406265; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765850277658502776585027-
NM_000126.4(ETFA):c.197A>G (p.Asp66Gly)2108ETFAUncertain significance201888260RCV001277762; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765850317658503115:g.76585031T>C-
NM_000126.4(ETFA):c.193C>T (p.Gln65Ter)2108ETFALikely pathogenic-1RCV003475599; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658503576585035-
NM_000126.4(ETFA):c.189G>A (p.Val63=)2108ETFALikely benign1179483198RCV001450380; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765850397658503976585039-
NM_000126.4(ETFA):c.187-3T>C2108ETFAUncertain significance-1RCV002617453; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658504476585044NC_000015.9:g.76585044A>G-
NM_000126.4(ETFA):c.187-4A>T2108ETFALikely benign745823838RCV001468610; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765850457658504576585045-
NM_000126.4(ETFA):c.187-13C>A2108ETFALikely benign-1RCV003090582; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658505476585054NC_000015.9:g.76585054G>T-
NM_000126.4(ETFA):c.186+16G>T2108ETFABenign146932936RCV000435269|RCV001523630; NMedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765879167658791615:g.76587916C>AClinGen:CA7673847CN169374 not specified;
NM_000126.4(ETFA):c.186+9T>A2108ETFALikely benign1596224309RCV001446668; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765879237658792315:g.76587923A>T-
NM_000126.4(ETFA):c.186+9T>C2108ETFALikely benign1596224309RCV001425444; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765879237658792376587923-
NM_000126.4(ETFA):c.186+7A>G2108ETFAConflicting interpretations of pathogenicity184587113RCV000185862|RCV000323787|RCV000676980|RCV001833109; NMedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900|157658792576587925NC_000015.9:g.76587925T>CClinGen:CA312476C0268596 231680 Glutaric aciduria, type 2;
NM_000126.4(ETFA):c.186+1G>A2108ETFALikely pathogenic2141543695RCV002036201; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765879317658793176587931-
NM_000126.4(ETFA):c.183C>T (p.Asp61=)2108ETFALikely benign2141543697RCV001479813; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765879357658793576587935-
NM_000126.4(ETFA):c.178T>G (p.Cys60Gly)2108ETFAUncertain significance-1RCV002726560; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658794076587940NC_000015.9:g.76587940A>C-
NM_000126.4(ETFA):c.173C>G (p.Thr58Ser)2108ETFAUncertain significance1166705959RCV001330795; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765879457658794576587945-
NM_000126.4(ETFA):c.170G>C (p.Gly57Ala)2108ETFAUncertain significance146299082RCV001277763; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765879487658794815:g.76587948C>G-
NM_000126.4(ETFA):c.170G>T (p.Gly57Val)2108ETFAUncertain significance-1RCV003023750; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658794876587948NC_000015.9:g.76587948C>A-
NM_000126.4(ETFA):c.165A>G (p.Val55=)2108ETFALikely benign2039810025RCV001395133; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765879537658795376587953-
NM_000126.4(ETFA):c.163G>A (p.Val55Ile)2108ETFAUncertain significance1035217923RCV002019449; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765879557658795576587955-
NM_000126.4(ETFA):c.156C>T (p.Ser52=)2108ETFALikely benign2141543739RCV001455785; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765879627658796276587962-
NM_000126.4(ETFA):c.153G>A (p.Val51=)2108ETFALikely benign2039810189RCV001482146; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765879657658796576587965-
NM_000126.4(ETFA):c.148G>A (p.Glu50Lys)2108ETFAUncertain significance780880209RCV001997329|RCV003348679; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C095012315765879707658797076587970-
NM_000126.4(ETFA):c.141T>G (p.Leu47=)2108ETFALikely benign2141543772RCV001491571; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765879777658797776587977-
NM_000126.4(ETFA):c.69_140del (p.Val24_Leu47del)2108ETFAUncertain significance-1RCV002685707; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658797876588049NC_000015.9:g.76587981_76588052del-
NM_000126.4(ETFA):c.136C>T (p.Arg46Cys)2108ETFAUncertain significance-1RCV003079793; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658798276587982NC_000015.9:g.76587982G>A-
NM_000126.4(ETFA):c.120C>T (p.Thr40=)2108ETFALikely benign-1RCV002871756; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658799876587998-
NM_000126.4(ETFA):c.100G>A (p.Ala34Thr)2108ETFAUncertain significance-1RCV003038278; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658801876588018NC_000015.9:g.76588018C>T-
NM_000126.4(ETFA):c.88A>G (p.Asn30Asp)2108ETFAUncertain significance2039810890RCV001978524; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765880307658803076588030-
NM_000126.4(ETFA):c.84T>C (p.His28=)2108ETFALikely benign-1RCV003085459; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658803476588034-
NM_000126.4(ETFA):c.81G>C (p.Glu27Asp)2108ETFAUncertain significance772068605RCV000809428; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765880377658803715:g.76588037C>G-
NM_000126.4(ETFA):c.79G>A (p.Glu27Lys)2108ETFAUncertain significance2141543849RCV001991552; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765880397658803976588039-
NM_000126.4(ETFA):c.78T>C (p.Ala26=)2108ETFAConflicting interpretations of pathogenicity773298687RCV001118070; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765880407658804015:g.76588040A>G-
NM_000126.4(ETFA):c.77C>T (p.Ala26Val)2108ETFAUncertain significance1389901296RCV002048833; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765880417658804176588041-
NM_000126.4(ETFA):c.66C>T (p.Thr22=)2108ETFAConflicting interpretations of pathogenicity370375322RCV001118071; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765880527658805215:g.76588052G>A-
NM_000126.4(ETFA):c.63T>G (p.Ser21Arg)2108ETFAUncertain significance1596224387RCV000824188; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765880557658805515:g.76588055A>C-
NM_000126.4(ETFA):c.54A>G (p.Arg18=)2108ETFALikely benign2141543902RCV002121738; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765880647658806476588064-
NM_000126.4(ETFA):c.53G>A (p.Arg18Gln)2108ETFAUncertain significance-1RCV002610473; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658806576588065NC_000015.9:g.76588065C>T-
NM_000126.4(ETFA):c.52C>T (p.Arg18Ter)2108ETFAPathogenic754202690RCV000824641|RCV001564261|RCV002538204; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900|MeSH:D030342,MedGen:C095012315765880667658806615:g.76588066G>A-
NM_000126.4(ETFA):c.44C>A (p.Ser15Ter)2108ETFAPathogenic1047426224RCV001951135; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765880747658807476588074-
NM_000126.4(ETFA):c.40-8C>T2108ETFALikely benign1380119459RCV002195552; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765880867658808676588086-
NM_000126.4(ETFA):c.40-17_40-8del2108ETFALikely benign-1RCV002846287; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658808676588095NC_000015.9:g.76588088_76588097del-
NM_000126.4(ETFA):c.40-10C>T2108ETFALikely benign546196896RCV000945721; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765880887658808815:g.76588088G>A-
NM_000126.4(ETFA):c.40-16T>G2108ETFALikely benign1402206099RCV002210414; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765880947658809476588094-
NM_000126.4(ETFA):c.40-19dup2108ETFABenign755841159RCV002096311; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115765880967658809776588096-
NM_000126.4(ETFA):c.40-19del2108ETFABenign-1RCV003062925; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157658809776588097NC_000015.9:g.76588105del-
NC_000015.9:g.(?_76603671)_(76603729_?)dup2108ETFAUncertain significance-1RCV003119343; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157660367176603729-
NM_000126.4(ETFA):c.39+12C>G2108ETFABenign62027051RCV000078133|RCV000371483|RCV001610351; NMedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C366190015766036797660367915:g.76603679G>CClinGen:CA145743C0268596 231680 Glutaric aciduria, type 2;
NC_000015.10:g.(?_76311340)_(76311398_?)del2108ETFAPathogenic-1RCV001033702; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157660368176603739-1-
NM_000126.4(ETFA):c.39+9G>A2108ETFALikely benign2039995773RCV001465554; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115766036827660368276603682-
NM_000126.4(ETFA):c.39+8C>T2108ETFALikely benign771448257RCV001396775; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115766036837660368376603683-
NM_000126.4(ETFA):c.39+8C>G2108ETFALikely benign-1RCV002880867; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157660368376603683NC_000015.9:g.76603683G>C-
NM_000126.4(ETFA):c.39G>A (p.Ala13=)2108ETFAUncertain significance776956043RCV001278287; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115766036917660369115:g.76603691C>T-
NM_000126.4(ETFA):c.36G>A (p.Arg12=)2108ETFAUncertain significance1299355915RCV001278288; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115766036947660369415:g.76603694C>T-
NM_000126.4(ETFA):c.32G>A (p.Arg11Gln)2108ETFAUncertain significance-1RCV003066888; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157660369876603698NC_000015.9:g.76603698C>T-
NM_000126.4(ETFA):c.30C>T (p.Leu10=)2108ETFALikely benign1042921735RCV000534010; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115766037007660370015:g.76603700G>AClinGen:CA14148867C0268596 231680 Glutaric aciduria, type 2;
NM_000126.4(ETFA):c.30C>G (p.Leu10=)2108ETFALikely benign1042921735RCV002123203; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115766037007660370076603700-
NM_000126.4(ETFA):c.15_25dup (p.Gln9fs)2108ETFAPathogenic1384386872RCV001092618|RCV001784643; NMedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115766037047660370515:g.76603704_76603705insGCCCCGGAGCC-
NM_000126.4(ETFA):c.24G>A (p.Gly8=)2108ETFALikely benign2141564548RCV001395128; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115766037067660370676603706-
NM_000126.4(ETFA):c.24G>C (p.Gly8=)2108ETFALikely benign2141564548RCV002202245; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115766037067660370676603706-
NM_000126.4(ETFA):c.21G>C (p.Pro7=)2108ETFALikely benign903002200RCV000606269|RCV001505081; NMedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115766037097660370915:g.76603709C>GClinGen:CA273705489CN169374 not specified;
NM_000126.4(ETFA):c.21G>A (p.Pro7=)2108ETFALikely benign903002200RCV002142094; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115766037097660370976603709-
NM_000126.4(ETFA):c.20C>T (p.Pro7Leu)2108ETFAUncertain significance557160401RCV000702647|RCV002292481; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C366190015766037107660371015:g.76603710G>A-C0268596 231680 Glutaric aciduria, type 2;
NM_000126.4(ETFA):c.-11_16del (p.Met1_Ala6del)2108ETFAUncertain significance-1RCV003048809; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157660371476603740NC_000015.9:g.76603721_76603747del-
NM_000126.4(ETFA):c.15G>A (p.Ala5=)2108ETFALikely benign1253564653RCV002092618; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115766037157660371576603715-
NM_000126.4(ETFA):c.11C>T (p.Ala4Val)2108ETFAUncertain significance761552468RCV001912328; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115766037197660371976603719-
NM_000126.4(ETFA):c.8G>C (p.Arg3Pro)2108ETFAUncertain significance2141564581RCV001991598; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115766037227660372276603722-
NM_000126.4(ETFA):c.7C>T (p.Arg3Ter)2108ETFALikely pathogenic1475984278RCV000985194; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115766037237660372315:g.76603723G>A-
NM_000126.4(ETFA):c.6C>T (p.Phe2=)2108ETFAConflicting interpretations of pathogenicity749929239RCV000341012|RCV000725409|RCV001079275|RCV001272689; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|15766037247660372415:g.76603724G>AClinGen:CA7673900CN169374 not specified;
NM_000126.4(ETFA):c.2T>C (p.Met1Thr)2108ETFAConflicting interpretations of pathogenicity727503918RCV000153198|RCV000324694; NMedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115766037287660372815:g.76603728A>GClinGen:CA295613C0268596 231680 Glutaric aciduria, type 2;
NM_000126.4(ETFA):c.-7G>A2108ETFAUncertain significance779643894RCV000279388; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157660373676603736NC_000015.9:g.76603736C>TClinGen:CA7673901C0268596 231680 Glutaric aciduria, type 2;
NM_000126.4(ETFA):c.-9G>T2108ETFAUncertain significance754953251RCV001278289; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115766037387660373815:g.76603738C>A-
NM_000126.4(ETFA):c.-40G>A2108ETFAUncertain significance1057521597RCV001330796|RCV001703800; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C366190015766037697660376915:g.76603769C>TClinGen:CA16607876CN169374 not specified;
NM_000126.4(ETFA):c.-42C>T2108ETFAConflicting interpretations of pathogenicity546128998RCV000432359|RCV001119611; NMedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115766037717660377115:g.76603771G>AClinGen:CA16606783CN169374 not specified;
NM_000126.4(ETFA):c.-56C>A2108ETFAUncertain significance548701046RCV000337033; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157660378576603785NC_000015.9:g.76603785G>TClinGen:CA10642584C0268596 231680 Glutaric aciduria, type 2;
NM_000126.4(ETFA):c.-59C>T2108ETFAUncertain significance80155214RCV000375267; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791157660378876603788NC_000015.9:g.76603788G>AClinGen:CA10646616C0268596 231680 Glutaric aciduria, type 2;
NM_000126.4(ETFA):c.-71T>C2108ETFALikely benign116149551RCV000292449|RCV001549300; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900157660380076603800NC_000015.9:g.76603800A>GClinGen:CA10647420C0268596 231680 Glutaric aciduria, type 2;
NM_000126.4(ETFA):c.-71T>G2108ETFAUncertain significance116149551RCV001119612; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679115766038007660380015:g.76603800A>C-
NC_000019.9:g.(?_51727962)_(51890697_?)del2109ETFBPathogenic-1RCV003107570; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195172796251890697-
NC_000019.9:g.(?_51848465)_(51856564_?)dup2109ETFBUncertain significance-1RCV003107571; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195184846551856564-
NM_001985.3(ETFB):c.762G>T (p.Arg254=)2109ETFBLikely benign2123567151RCV002147978; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518484715184847151848471-
NM_001985.3(ETFB):c.761G>A (p.Arg254Gln)2109ETFBUncertain significance145173884RCV000814113; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518484725184847219:g.51848472C>T-
NM_001985.3(ETFB):c.760C>T (p.Arg254Trp)2109ETFBUncertain significance370522844RCV001866543; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518484735184847351848473-
NM_001985.3(ETFB):c.726T>C (p.Thr242=)2109ETFBLikely benign-1RCV002785862; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195184850751848507-
NM_001985.3(ETFB):c.715G>A (p.Val239Met)2109ETFBUncertain significance-1RCV003013691; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195184851851848518NC_000019.9:g.51848518C>T-
NM_001985.3(ETFB):c.709G>A (p.Val237Ile)2109ETFBConflicting interpretations of pathogenicity149129214RCV000416208|RCV000809414|RCV002516967; NMedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C0950123195184852451848524NC_000019.9:g.51848524C>TClinGen:CA312500CN517202 not provided;
NM_001985.3(ETFB):c.708C>T (p.Gly236=)2109ETFBLikely benign749837573RCV001450172; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518485255184852519:g.51848525G>A-
NM_001985.3(ETFB):c.706G>A (p.Gly236Ser)2109ETFBUncertain significance375326450RCV001997464|RCV003355704; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C095012319518485275184852751848527-
NM_001985.3(ETFB):c.705C>T (p.Ala235=)2109ETFBLikely benign760012472RCV001484711; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518485285184852851848528-
NM_001985.3(ETFB):c.705C>A (p.Ala235=)2109ETFBLikely benign-1RCV002746281; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195184852851848528-
NM_001985.3(ETFB):c.702G>A (p.Thr234=)2109ETFBLikely benign769668781RCV000429243|RCV001480063; NMedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518485315184853119:g.51848531C>TClinGen:CA9610676CN169374 not specified;
NM_001985.3(ETFB):c.697C>T (p.Arg233Cys)2109ETFBUncertain significance761714465RCV000634897; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518485365184853619:g.51848536G>AClinGen:CA9610679C0268596 231680 Glutaric aciduria, type 2;
NM_001985.3(ETFB):c.687C>A (p.Asp229Glu)2109ETFBUncertain significance200877363RCV001210914; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518485465184854619:g.51848546G>T-
NM_001985.3(ETFB):c.676A>T (p.Ser226Cys)2109ETFBUncertain significance2123567525RCV001917978; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518485575184855751848557-
NM_001985.3(ETFB):c.671_672del (p.Val224fs)2109ETFBLikely pathogenic-1RCV003476356; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195184856151848562-
NM_001985.3(ETFB):c.666C>T (p.Leu222=)2109ETFBLikely benign-1RCV002658354; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195184856751848567-
NM_001985.3(ETFB):c.645dup (p.Val216fs)2109ETFBUncertain significance1428088327RCV001315538|RCV002222695; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN16937419518485875184858851848587-
NM_001985.3(ETFB):c.636G>A (p.Gly212=)2109ETFBLikely benign-1RCV002953155; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195184859751848597-
NM_001985.3(ETFB):c.632C>A (p.Pro211His)2109ETFBUncertain significance760907327RCV001050507; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518486015184860119:g.51848601G>T-
NM_001985.3(ETFB):c.631C>T (p.Pro211Ser)2109ETFBUncertain significance-1RCV003051501; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195184860251848602NC_000019.9:g.51848602G>A-
NM_001985.3(ETFB):c.622G>A (p.Val208Met)2109ETFBUncertain significance-1RCV003005842; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195184861151848611NC_000019.9:g.51848611C>T-
NM_001985.3(ETFB):c.618C>T (p.Ile206=)2109ETFBBenign533794107RCV000890204; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518486155184861519:g.51848615G>A-
NM_001985.3(ETFB):c.605AGA[3] (p.Lys205del)2109ETFBUncertain significance767519060RCV001940732; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518486175184861951848616-
NM_001985.3(ETFB):c.611A>G (p.Lys204Arg)2109ETFBUncertain significance-1RCV002296145; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518486225184862251848622-
NM_001985.3(ETFB):c.598A>G (p.Lys200Glu)2109ETFBUncertain significance920672041RCV000555412; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518486355184863519:g.51848635T>CClinGen:CA9610699C0268596 231680 Glutaric aciduria, type 2;
NM_001985.3(ETFB):c.598-1del2109ETFBConflicting interpretations of pathogenicity750961823RCV000996996|RCV003473538; NMedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518486365184863619:g.51848636_51848636del-
NM_001985.3(ETFB):c.598-3C>T2109ETFBUncertain significance-1RCV002842723; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195184863851848638NC_000019.9:g.51848638G>A-
NM_001985.3(ETFB):c.598-14C>T2109ETFBLikely benign750381743RCV000602767|RCV002529709; NMedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518486495184864919:g.51848649G>AClinGen:CA9610701CN169374 not specified;
NM_001985.3(ETFB):c.597+12_597+25del2109ETFBLikely benign756531454RCV002195704; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518501295185014251850128-
NM_001985.3(ETFB):c.597+18G>A2109ETFBLikely benign-1RCV002604644; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185013651850136NC_000019.9:g.51850136C>T-
NM_001985.3(ETFB):c.597+17C>A2109ETFBLikely benign372586153RCV001703705|RCV001861522; NMedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518501375185013719:g.51850137G>TClinGen:CA16609029CN169374 not specified;
NM_001985.3(ETFB):c.597+17C>G2109ETFBLikely benign-1RCV003073332; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185013751850137NC_000019.9:g.51850137G>C-
NM_001985.3(ETFB):c.597+13C>G2109ETFBLikely benign-1RCV002736576; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185014151850141NC_000019.9:g.51850141G>C-
NM_001985.3(ETFB):c.597+9C>G2109ETFBLikely benign1985800060RCV002200532; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518501455185014551850145-
NM_001985.3(ETFB):c.597+8C>T2109ETFBLikely benign758639864RCV000611522|RCV002528605; NMedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518501465185014619:g.51850146G>AClinGen:CA9610712CN169374 not specified;
NM_001985.3(ETFB):c.597+6C>T2109ETFBUncertain significance539989327RCV001937375; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518501485185014851850148-
NM_001985.3(ETFB):c.589A>G (p.Asn197Asp)2109ETFBUncertain significance747411704RCV002020352; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518501625185016251850162-
NM_001985.3(ETFB):c.588C>G (p.Pro196=)2109ETFBLikely benign-1RCV002745717; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185016351850163-
NM_001985.3(ETFB):c.582G>A (p.Thr194=)2109ETFBLikely benign376679757RCV000610051|RCV002063990; NMedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518501695185016919:g.51850169C>TClinGen:CA9610715CN169374 not specified;
NM_001985.3(ETFB):c.577G>A (p.Ala193Thr)2109ETFBConflicting interpretations of pathogenicity200186078RCV000540682|RCV001551094; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C366190019518501745185017419:g.51850174C>TClinGen:CA9610716C0268596 231680 Glutaric aciduria, type 2;
NM_001985.3(ETFB):c.576C>T (p.Tyr192=)2109ETFBLikely benign748162444RCV002066158; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518501755185017519:g.51850175G>A-
NM_001985.3(ETFB):c.572G>A (p.Arg191His)2109ETFBUncertain significance769951998RCV001903360; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518501795185017951850179-
NM_001985.3(ETFB):c.571C>T (p.Arg191Cys)2109ETFBConflicting interpretations of pathogenicity772976948RCV001916076; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518501805185018051850180-
NM_001985.3(ETFB):c.565G>A (p.Glu189Lys)2109ETFBConflicting interpretations of pathogenicity376065198RCV000691202|RCV001551852; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN51720219518501865185018619:g.51850186C>T-C0268596 231680 Glutaric aciduria, type 2;
NM_001985.3(ETFB):c.564C>T (p.Asn188=)2109ETFBLikely benign-1RCV002571877; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185018751850187-
NM_001985.3(ETFB):c.541G>A (p.Val181Met)2109ETFBUncertain significance148443220RCV001935396; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518502105185021051850210-
NM_001985.3(ETFB):c.521G>A (p.Arg174His)2109ETFBLikely benign141917423RCV000224154|RCV001088837; NMedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185023051850230NC_000019.9:g.51850230C>TClinGen:CA312498CN517202 not provided;
NM_001985.3(ETFB):c.520C>G (p.Arg174Gly)2109ETFBUncertain significance755539437RCV002024486; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518502315185023151850231-
NM_001985.3(ETFB):c.520C>T (p.Arg174Cys)2109ETFBUncertain significance-1RCV002967305|RCV003410002; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|195185023151850231NC_000019.9:g.51850231G>A-
NM_001985.3(ETFB):c.519G>C (p.Leu173=)2109ETFBLikely benign933129897RCV000437246|RCV002061386; NMedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518502325185023219:g.51850232C>GClinGen:CA16607940CN169374 not specified;
NM_001985.3(ETFB):c.504G>C (p.Gly168=)2109ETFBLikely benign-1RCV002736579; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185024751850247-
NM_001985.3(ETFB):c.499G>C (p.Asp167His)2109ETFBUncertain significance140614695RCV001900330|RCV002552107; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C095012319518502525185025251850252-
NM_001985.3(ETFB):c.499G>A (p.Asp167Asn)2109ETFBUncertain significance-1RCV002572886; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185025251850252NC_000019.9:g.51850252C>T-
NM_001985.3(ETFB):c.498C>T (p.Ile166=)2109ETFBLikely benign150636733RCV000427002|RCV001491358; NMedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518502535185025319:g.51850253G>AClinGen:CA9610731CN169374 not specified;
NM_001985.3(ETFB):c.498C>G (p.Ile166Met)2109ETFBUncertain significance-1RCV003093042|RCV003100499; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185025351850253NC_000019.9:g.51850253G>C-
NM_001985.3(ETFB):c.491G>A (p.Arg164Gln)2109ETFBLikely pathogenic104894677RCV000018200|RCV001235936; NMONDO:MONDO:0700074,MedGen:C3278155|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518502605185026019:g.51850260C>TClinGen:CA126841,UniProtKB:P38117#VAR_002369,OMIM:130410.0001C3278155 Glutaric acidemia IIB;
NM_001985.3(ETFB):c.490C>T (p.Arg164Trp)2109ETFBPathogenic/Likely pathogenic148045813RCV001939613; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518502615185026151850261-
NM_001985.3(ETFB):c.480G>A (p.Leu160=)2109ETFBLikely benign2123572721RCV002205012; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518502715185027151850271-
NM_001985.3(ETFB):c.461C>T (p.Thr154Met)2109ETFBBenign1130426RCV000079961|RCV000676879|RCV000991043; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518502905185029019:g.51850290G>AClinGen:CA147539,UniProtKB:P38117#VAR_008548CN517202 not provided;
NM_001985.3(ETFB):c.454C>T (p.Gln152Ter)2109ETFBPathogenic-1RCV002885076; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185029751850297NC_000019.9:g.51850297G>A-
NM_001985.3(ETFB):c.452C>T (p.Ser151Phe)2109ETFBConflicting interpretations of pathogenicity74735908RCV000864900|RCV002245716; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C366190019518502995185029919:g.51850299G>A-
NM_001985.3(ETFB):c.450C>A (p.Ala150=)2109ETFBLikely benign-1RCV002740188; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185030151850301-
NM_001985.3(ETFB):c.447C>T (p.Phe149=)2109ETFBBenign144640661RCV000185875|RCV000676880|RCV001084836; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185030451850304NC_000019.9:g.51850304G>AClinGen:CA312496C0268596 231680 Glutaric aciduria, type 2;
NM_001985.3(ETFB):c.439-4C>T2109ETFBLikely benign2035246995RCV002209714; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518503165185031651850316-
NM_001985.3(ETFB):c.439-14C>T2109ETFBLikely benign756770328RCV002094619; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518503265185032651850326-
NM_001985.3(ETFB):c.439-18T>C2109ETFBLikely benign-1RCV002721836; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185033051850330NC_000019.9:g.51850330A>G-
NM_001985.3(ETFB):c.439-20C>G2109ETFBLikely benign755291156RCV002158160; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518503325185033251850332-
NM_001985.3(ETFB):c.438+20C>T2109ETFBBenign114985874RCV000153199|RCV001521231; NMedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185356351853563NC_000019.9:g.51853563G>AClinGen:CA295615CN169374 not specified;
NM_001985.3(ETFB):c.438+5G>T2109ETFBUncertain significance1450691951RCV001982718; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518535785185357851853578-
NM_001985.3(ETFB):c.438+5G>A2109ETFBUncertain significance-1RCV002909167; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185357851853578NC_000019.9:g.51853578C>T-
NM_001985.3(ETFB):c.438+4A>G2109ETFBUncertain significance-1RCV003035901; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185357951853579NC_000019.9:g.51853579T>C-
NM_001985.3(ETFB):c.426_427insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCTCCTGACCTCTAGATCCACCCGCCTCGGCCTCCCCAAG2109ETFBPathogenic2123580195RCV001947884; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518535945185359551853594-
NM_001985.3(ETFB):c.414A>G (p.Thr138=)2109ETFBLikely benign1178011139RCV002098752; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518536075185360751853607-
NM_001985.3(ETFB):c.411G>A (p.Met137Ile)2109ETFBUncertain significance-1RCV002609387; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185361051853610NC_000019.9:g.51853610C>T-
NM_001985.3(ETFB):c.406C>T (p.Gln136Ter)2109ETFBLikely pathogenic-1RCV003476353; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185361551853615-
NM_001985.3(ETFB):c.402A>G (p.Thr134=)2109ETFBLikely benign754039782RCV002090236; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518536195185361951853619-
NM_001985.3(ETFB):c.395A>C (p.Asn132Thr)2109ETFBUncertain significance-1RCV003009137; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185362651853626NC_000019.9:g.51853626T>G-
NM_001985.3(ETFB):c.393T>C (p.Cys131=)2109ETFBLikely benign371564310RCV001489623; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518536285185362819:g.51853628A>G-
NM_001985.3(ETFB):c.382G>A (p.Asp128Asn)2109ETFBConflicting interpretations of pathogenicity104894678RCV000018202|RCV002513095; NMONDO:MONDO:0700074,MedGen:C3278155|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518536395185363919:g.51853639C>TClinGen:CA126842,UniProtKB:P38117#VAR_025804,OMIM:130410.0003C3278155 Glutaric acidemia IIB;
NM_001985.3(ETFB):c.376-7C>T2109ETFBLikely benign-1RCV003087986; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185365251853652NC_000019.9:g.51853652G>A-
NM_001985.3(ETFB):c.376-12C>T2109ETFBLikely benign-1RCV002623047; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185365751853657NC_000019.9:g.51853657G>A-
NM_001985.3(ETFB):c.341_375+154del2109ETFBLikely pathogenic-1RCV002868020; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185623251856420NC_000019.9:g.51856238_51856426del-
NM_001985.3(ETFB):c.375+19C>T2109ETFBLikely benign-1RCV002672170; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185636751856367NC_000019.9:g.51856367G>A-
NM_001985.3(ETFB):c.375+14G>A2109ETFBLikely benign757521352RCV002102361; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518563725185637251856372-
NM_001985.3(ETFB):c.375+7G>C2109ETFBLikely benign-1RCV003115163; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185637951856379NC_000019.9:g.51856379C>G-
NM_001985.3(ETFB):c.375+6T>G2109ETFBUncertain significance-1RCV003076393; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185638051856380NC_000019.9:g.51856380A>C-
NM_001985.3(ETFB):c.375+1G>T2109ETFBLikely pathogenic-1RCV002470034; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185638551856385NC_000019.9:g.51856385C>A-
NM_001985.3(ETFB):c.375+1G>A2109ETFBLikely pathogenic-1RCV002976143; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185638551856385NC_000019.9:g.51856385C>T-
NM_001985.3(ETFB):c.375+1G>C2109ETFBLikely pathogenic-1RCV003476355; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185638551856385-
NM_001985.3(ETFB):c.375G>C (p.Gln125His)2109ETFBUncertain significance-1RCV003064593; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185638651856386NC_000019.9:g.51856386C>G-
NM_001985.3(ETFB):c.358G>T (p.Val120Leu)2109ETFBUncertain significance-1RCV002601956; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185640351856403NC_000019.9:g.51856403C>A-
NM_001985.3(ETFB):c.353A>G (p.Asp118Gly)2109ETFBUncertain significance-1RCV003073141|RCV003073140; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185640851856408NC_000019.9:g.51856408T>C-
NM_001985.3(ETFB):c.343_345del (p.Glu115del)2109ETFBUncertain significance-1RCV003100658; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185641651856418NC_000019.9:g.51856418_51856420del-
NM_001985.3(ETFB):c.334G>T (p.Ala112Ser)2109ETFBUncertain significance-1RCV003037728; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185642751856427NC_000019.9:g.51856427C>A-
NM_001985.3(ETFB):c.326C>A (p.Ala109Asp)2109ETFBUncertain significance-1RCV002765851; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185643551856435NC_000019.9:g.51856435G>T-
NM_001985.3(ETFB):c.316C>T (p.Arg106Trp)2109ETFBUncertain significance748730384RCV001879069|RCV002274230; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C366190019518564455185644551856445-
NM_001985.3(ETFB):c.297G>A (p.Leu99=)2109ETFBLikely benign-1RCV002867341; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185646451856464-
NM_001985.3(ETFB):c.284_293del (p.Glu95fs)2109ETFBPathogenic2123587098RCV001783209; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518564685185647751856467-
NM_001985.3(ETFB):c.293G>A (p.Arg98His)2109ETFBUncertain significance761063406RCV001979000; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518564685185646851856468-
NM_001985.3(ETFB):c.292C>T (p.Arg98Cys)2109ETFBConflicting interpretations of pathogenicity147353781RCV000185874|RCV000658852|RCV001086047|RCV001171332; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|Human Phenotype Ontology:HP:0000106,Human Phenotype Ontology:HP:0001918,Human Phenotype Ontology:HP:0008671,Human Phenotype Ontology:HP:0012622,MONDO:MONDO:0019518564695185646919:g.51856469G>AClinGen:CA312494CN517202 not provided;
NM_001985.3(ETFB):c.282A>G (p.Ala94=)2109ETFBLikely benign-1RCV003100415; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185647951856479-
NM_001985.3(ETFB):c.278C>T (p.Pro93Leu)2109ETFBConflicting interpretations of pathogenicity139519507RCV000415826|RCV000814061|RCV002517821; NMedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C0950123195185648351856483NC_000019.9:g.51856483G>AClinGen:CA312492CN517202 not provided;
NM_001985.3(ETFB):c.274C>T (p.Pro92Ser)2109ETFBConflicting interpretations of pathogenicity758509148RCV001332069; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518564875185648751856487-
NM_001985.3(ETFB):c.273G>A (p.Val91=)2109ETFBLikely benign-1RCV002872746; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185648851856488-
NM_001985.3(ETFB):c.267G>A (p.Val89=)2109ETFBLikely benign984710058RCV001424865; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518564945185649451856494-
NM_001985.3(ETFB):c.264C>T (p.His88=)2109ETFBLikely benign562266125RCV002064722; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518564975185649719:g.51856497G>A-
NM_001985.3(ETFB):c.259A>G (p.Ile87Val)2109ETFBUncertain significance2123587270RCV001871140; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518565025185650251856502-
NM_001985.3(ETFB):c.257G>C (p.Gly86Ala)2109ETFBUncertain significance143568332RCV001985428; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518565045185650451856504-
NM_001985.3(ETFB):c.257G>T (p.Gly86Val)2109ETFBUncertain significance-1RCV003003194; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185650451856504NC_000019.9:g.51856504C>A-
NM_001985.3(ETFB):c.254G>A (p.Arg85Gln)2109ETFBUncertain significance-1RCV003051206|RCV003076432; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185650751856507NC_000019.9:g.51856507C>T-
NM_001985.3(ETFB):c.253C>A (p.Arg85=)2109ETFBLikely benign187424345RCV000970547; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518565085185650819:g.51856508G>T-
NM_001985.3(ETFB):c.253C>T (p.Arg85Ter)2109ETFBPathogenic/Likely pathogenic187424345RCV001244975; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518565085185650819:g.51856508G>A-
NM_001985.3(ETFB):c.252C>T (p.Asp84=)2109ETFBLikely benign1599842126RCV001469751; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518565095185650919:g.51856509G>A-
NM_001985.3(ETFB):c.247G>A (p.Ala83Thr)2109ETFBUncertain significance1352787179RCV002011512; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518565145185651451856514-
NM_001985.3(ETFB):c.232G>A (p.Ala78Thr)2109ETFBConflicting interpretations of pathogenicity548046212RCV000185880|RCV002222436|RCV002513954; NMedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185652951856529NC_000019.9:g.51856529C>TClinGen:CA312506CN517202 not provided;
NM_001985.3(ETFB):c.231C>T (p.Thr77=)2109ETFBLikely benign-1RCV002962767; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185653051856530-
NM_001985.3(ETFB):c.227G>A (p.Arg76His)2109ETFBUncertain significance148567433RCV000185879|RCV000548291|RCV002513953; NMedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C095012319518565345185653419:g.51856534C>TClinGen:CA312504C0268596 231680 Glutaric aciduria, type 2;
NM_001985.3(ETFB):c.217-4G>T2109ETFBBenign/Likely benign149557388RCV000634900|RCV001613419; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900195185654851856548NC_000019.9:g.51856548C>AClinGen:CA9610817C0268596 231680 Glutaric aciduria, type 2;
NM_001985.3(ETFB):c.217-14T>G2109ETFBLikely benign-1RCV002571773; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185655851856558NC_000019.9:g.51856558A>C-
NM_001985.3(ETFB):c.216+18del2109ETFBBenign-1RCV003039409; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185738651857386NC_000019.9:g.51857389del-
NM_001985.3(ETFB):c.216+12C>T2109ETFBLikely benign-1RCV003029343; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185739251857392NC_000019.9:g.51857392G>A-
NM_001985.3(ETFB):c.216+10G>A2109ETFBLikely benign-1RCV002625244; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185739451857394NC_000019.9:g.51857394C>T-
NM_001985.3(ETFB):c.216+7A>G2109ETFBLikely benign910583174RCV001493534; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518573975185739751857397-
NM_001985.3(ETFB):c.208del (p.Gln70fs)2109ETFBLikely pathogenic-1RCV003476357; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185741251857412-
NM_001985.3(ETFB):c.190G>A (p.Val64Ile)2109ETFBUncertain significance-1RCV003067514; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185743051857430NC_000019.9:g.51857430C>T-
NM_001985.3(ETFB):c.189C>T (p.Ala63=)2109ETFBLikely benign267605609RCV002065955; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518574315185743119:g.51857431G>A-
NM_001985.3(ETFB):c.186C>T (p.Ile62=)2109ETFBLikely benign-1RCV003081821; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185743451857434-
NM_001985.3(ETFB):c.186C>G (p.Ile62Met)2109ETFBUncertain significance-1RCV003002331; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185743451857434NC_000019.9:g.51857434G>C-
NM_001985.3(ETFB):c.184A>G (p.Ile62Val)2109ETFBUncertain significance199705168RCV001952981|RCV002562826; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C095012319518574365185743651857436-
NM_001985.3(ETFB):c.166A>C (p.Lys56Gln)2109ETFBUncertain significance-1RCV003105205; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185745451857454NC_000019.9:g.51857454T>G-
NM_001985.3(ETFB):c.163A>T (p.Lys55Ter)2109ETFBLikely pathogenic-1RCV003476352; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185745751857457-
NM_001985.3(ETFB):c.152G>A (p.Arg51Gln)2109ETFBUncertain significance-1RCV003085997; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185746851857468NC_000019.9:g.51857468C>T-
NM_001985.3(ETFB):c.151C>A (p.Arg51=)2109ETFBLikely benign1308673942RCV001428098; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518574695185746951857469-
NM_001985.3(ETFB):c.151C>G (p.Arg51Gly)2109ETFBUncertain significance-1RCV003035340; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185746951857469NC_000019.9:g.51857469G>C-
NM_001985.3(ETFB):c.142G>A (p.Glu48Lys)2109ETFBUncertain significance750117869RCV001996102; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518574785185747851857478-
NM_001985.3(ETFB):c.138G>C (p.Val46=)2109ETFBLikely benign537142189RCV001410982; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518574825185748251857482-
NM_001985.3(ETFB):c.136del (p.Val46fs)2109ETFBLikely pathogenic-1RCV002472164; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185748451857484NC_000019.9:g.51857485del-
NM_001985.3(ETFB):c.135G>A (p.Ala45=)2109ETFBLikely benign372040033RCV000600542|RCV003117415; NMedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518574855185748519:g.51857485C>TClinGen:CA9610854CN169374 not specified;
NM_001985.3(ETFB):c.134C>T (p.Ala45Val)2109ETFBUncertain significance770414295RCV001372453|RCV003331137; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN16937419518574865185748651857486-
NM_001985.3(ETFB):c.133G>A (p.Ala45Thr)2109ETFBUncertain significance151108898RCV002017443; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518574875185748751857487-
NM_001985.3(ETFB):c.124T>C (p.Cys42Arg)2109ETFBPathogenic-1RCV003476359; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185749651857496-
NM_001985.3(ETFB):c.123C>T (p.Phe41=)2109ETFBLikely benign-1RCV003049180; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185749751857497-
NM_001985.3(ETFB):c.122T>C (p.Phe41Ser)2109ETFBUncertain significance746082442RCV000538071; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185749851857498NC_000019.9:g.51857498A>GClinGen:CA9610860C0268596 231680 Glutaric aciduria, type 2;
NM_001985.3(ETFB):c.118C>A (p.Pro40Thr)2109ETFBUncertain significance772322071RCV001244954|RCV003166537; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C095012319518575025185750219:g.51857502G>T-
NM_001985.3(ETFB):c.117C>T (p.Asn39=)2109ETFBLikely benign2123591099RCV002220500; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518575035185750351857503-
NM_001985.3(ETFB):c.113T>C (p.Met38Thr)2109ETFBUncertain significance775541180RCV001362604; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518575075185750751857507-
NM_001985.3(ETFB):c.99T>C (p.Gly33=)2109ETFBLikely benign2123591146RCV002037796; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518575215185752151857521-
NM_001985.3(ETFB):c.98G>A (p.Gly33Asp)2109ETFBUncertain significance-1RCV002755179; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185752251857522NC_000019.9:g.51857522C>T-
NM_001985.3(ETFB):c.94del (p.Asp32fs)2109ETFBLikely pathogenic-1RCV003476360; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185752651857526-
NM_001985.3(ETFB):c.93G>C (p.Thr31=)2109ETFBLikely benign-1RCV002624488; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185752751857527-
NM_001985.3(ETFB):c.92C>T (p.Thr31Met)2109ETFBUncertain significance371751519RCV001924272|RCV003348639; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C095012319518575285185752851857528-
NM_001985.3(ETFB):c.90C>A (p.Val30=)2109ETFBLikely benign1986016385RCV002197522; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518575305185753051857530-
NM_001985.3(ETFB):c.82G>A (p.Gly28Ser)2109ETFBUncertain significance750230877RCV001925930|RCV002556356; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C095012319518575385185753851857538-
NM_001985.3(ETFB):c.82G>C (p.Gly28Arg)2109ETFBUncertain significance-1RCV002598342; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185753851857538NC_000019.9:g.51857538C>G-
NM_001985.3(ETFB):c.81C>T (p.Thr27=)2109ETFBLikely benign374819445RCV002164191; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518575395185753951857539-
NM_001985.3(ETFB):c.78G>T (p.Arg26Ser)2109ETFBUncertain significance-1RCV002636931; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185754251857542NC_000019.9:g.51857542C>A-
NM_001985.3(ETFB):c.62G>A (p.Arg21Gln)2109ETFBUncertain significance369216610RCV001974033; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518575585185755851857558-
NM_001985.3(ETFB):c.61C>T (p.Arg21Ter)2109ETFBLikely pathogenic-1RCV003476354; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185755951857559-
NM_001985.3(ETFB):c.61del (p.Arg21fs)2109ETFBLikely pathogenic-1RCV003476358; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185755951857559-
NM_001985.3(ETFB):c.58-27C>T2109ETFBUncertain significance-1RCV003148469; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185758951857589-
NM_001985.3(ETFB):c.58-57dup2109ETFBBenign74357706RCV000185872|RCV000721998|RCV001535408; NMedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN51720219518576145185761519:g.51857614_51857615insGClinGen:CA312491CN169374 not specified;
NM_001985.3(ETFB):c.58-57C>T2109ETFBLikely pathogenic766066977RCV000985168; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518576195185761919:g.51857619G>A-
NM_001985.3(ETFB):c.58-87A>C2109ETFBUncertain significance1986023015RCV001330124|RCV003416218; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|19518576495185764951857649-
NM_001985.3(ETFB):c.58-96G>A2109ETFBBenign/Likely benign140608276RCV000124914|RCV000224344|RCV002055530; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185765851857658NC_000019.9:g.51857658C>TClinGen:CA290767CN517202 not provided;
NM_001985.3(ETFB):c.58-196_58-194del2109ETFBUncertain significance768440463RCV000721999; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195185775651857758NC_000019.9:g.51857758_51857760del-
NM_001985.3(ETFB):c.58-212A>C2109ETFBBenign/Likely benign143144671RCV000124911|RCV000625041|RCV000996998; NMedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C366190019518577745185777419:g.51857774T>GClinGen:CA290761C0268596 231680 Glutaric aciduria, type 2;
NM_001985.3(ETFB):c.58-318_58-313dup2109ETFBBenign61361626RCV000722009|RCV001704963; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C366190019518578745185787519:g.51857874_51857875insCCACAGClinGen:CA312489CN169374 not specified;
NM_001985.3(ETFB):c.57+16del2109ETFBLikely benign529887209RCV002164186; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518695085186950851869507-
NM_001985.3(ETFB):c.57+14C>G2109ETFBLikely benign-1RCV003104803; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195186951051869510NC_000019.9:g.51869510G>C-
NM_001985.3(ETFB):c.57+7G>C2109ETFBLikely benign759897705RCV001501386; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518695175186951719:g.51869517C>G-
NM_001985.3(ETFB):c.52G>T (p.Val18Leu)2109ETFBUncertain significance-1RCV002819796; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195186952951869529NC_000019.9:g.51869529C>A-
NM_001985.3(ETFB):c.49G>T (p.Ala17Ser)2109ETFBUncertain significance-1RCV003078435; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195186953251869532NC_000019.9:g.51869532C>A-
NM_001985.3(ETFB):c.48C>T (p.Tyr16=)2109ETFBLikely benign1201149156RCV002169907; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518695335186953351869533-
NM_001985.3(ETFB):c.40A>C (p.Ile14Leu)2109ETFBUncertain significance148261223RCV001944138|RCV002561431; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C095012319518695415186954151869541-
NM_001985.3(ETFB):c.32dup (p.Arg12fs)2109ETFBLikely pathogenic-1RCV003476351; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195186954851869549-
NM_001985.3(ETFB):c.22G>A (p.Val8Ile)2109ETFBUncertain significance531136177RCV001932399|RCV002550998; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C095012319518695595186955951869559-
NM_001985.3(ETFB):c.22G>C (p.Val8Leu)2109ETFBUncertain significance-1RCV003115235; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195186955951869559NC_000019.9:g.51869559C>G-
NM_001985.3(ETFB):c.18G>C (p.Val6=)2109ETFBLikely benign572600030RCV002143936; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518695635186956351869563-
NM_001985.3(ETFB):c.15C>T (p.Arg5=)2109ETFBLikely benign-1RCV002754970; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195186956651869566-
NM_001985.3(ETFB):c.14G>T (p.Arg5Leu)2109ETFBUncertain significance-1RCV002751596; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195186956751869567NC_000019.9:g.51869567C>A-
NM_001985.3(ETFB):c.9G>A (p.Glu3=)2109ETFBLikely benign2123621091RCV002177761; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518695725186957251869572-
NM_001985.3(ETFB):c.6G>T (p.Ala2=)2109ETFBLikely benign2123621104RCV002177963; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679119518695755186957551869575-
NM_001985.3(ETFB):c.2T>C (p.Met1Thr)2109ETFBUncertain significance-1RCV002765576; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791195186957951869579NC_000019.9:g.51869579A>G-
NM_004453.3(ETFDH):c.-315G>A2110ETFDHUncertain significance886059192RCV000382620; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159593294159593294NC_000004.11:g.159593294G>AClinGen:CA10618183C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.-239G>A2110ETFDHLikely benign113981461RCV000290553|RCV001551455; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C36619004159593370159593370NC_000004.11:g.159593370G>AClinGen:CA10620354C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.-174A>G2110ETFDHUncertain significance886059193RCV000347745; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159593435159593435NC_000004.11:g.159593435A>GClinGen:CA10620356C0268596 231680 Glutaric aciduria, type 2;
NM_004453.4(ETFDH):c.-97G>A2110ETFDHUncertain significance183609368RCV000398251; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159593512159593512NC_000004.11:g.159593512G>AClinGen:CA10617326C0268596 231680 Glutaric aciduria, type 2;
NM_004453.4(ETFDH):c.-77C>G2110ETFDHUncertain significance1296122115RCV001147170; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141595935321595935324:g.159593532C>G-
NC_000004.11:g.(?_159593534)_(159629689_?)del2110ETFDHPathogenic-1RCV003113485; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159593534159629689-
NM_004453.4(ETFDH):c.-61C>T2110ETFDHUncertain significance377679439RCV001147171; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141595935481595935484:g.159593548C>T-
NC_000004.11:g.(?_159593609)_(159616815_?)dup2110ETFDHUncertain significance-1RCV001969900; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159593609159616815-1-
NC_000004.11:g.(?_159593609)_(159629679_?)dup2110ETFDHUncertain significance-1RCV001879369; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159593609159629679-1-
NM_004453.4(ETFDH):c.2T>C (p.Met1Thr)2110ETFDHPathogenic121964953RCV000012806|RCV002512993; NMONDO:MONDO:0700076,MedGen:C3278156|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141595936101595936104:g.159593610T>CClinGen:CA121815,OMIM:231675.0001C3278156 Glutaric acidemia IIC;
NM_004453.4(ETFDH):c.3G>C (p.Met1Ile)2110ETFDHPathogenic-1RCV002651856; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159593611159593611NC_000004.11:g.159593611G>C-
NM_004453.4(ETFDH):c.6G>C (p.Leu2=)2110ETFDHLikely benign2150300532RCV002144170; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159593614159593614159593614-
NM_004453.4(ETFDH):c.12G>A (p.Pro4=)2110ETFDHConflicting interpretations of pathogenicity373776053RCV000284618|RCV001833469; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|4159593620159593620NC_000004.11:g.159593620G>AClinGen:CA3122251C0268596 231680 Glutaric aciduria, type 2;
NM_004453.4(ETFDH):c.21G>A (p.Lys7=)2110ETFDHLikely benign1232501551RCV002110211; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159593629159593629159593629-
NM_004453.4(ETFDH):c.25T>A (p.Ser9Thr)2110ETFDHUncertain significance1175266968RCV001279046; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141595936331595936334:g.159593633T>A-
NM_004453.4(ETFDH):c.27C>T (p.Ser9=)2110ETFDHLikely benign746903871RCV001501196; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159593635159593635159593635-
NM_004453.4(ETFDH):c.34G>C (p.Ala12Pro)2110ETFDHPathogenic/Likely pathogenic1172887273RCV000699613|RCV001577644; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C36619004159593642159593642NC_000004.11:g.159593642G>C-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.4(ETFDH):c.34+1G>A2110ETFDHLikely pathogenic-1RCV003476396; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159593643159593643-
NM_004453.4(ETFDH):c.34+5G>C2110ETFDHPathogenic/Likely pathogenic1373597092RCV001994257; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159593647159593647159593647-
NM_004453.4(ETFDH):c.34+5G>A2110ETFDHUncertain significance-1RCV002627395; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159593647159593647NC_000004.11:g.159593647G>A-
NM_004453.4(ETFDH):c.34+7G>A2110ETFDHLikely benign1436016069RCV000606140|RCV002528681; NMedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141595936491595936494:g.159593649G>AClinGen:CA555632561CN169374 not specified;
NM_004453.4(ETFDH):c.34+17G>A2110ETFDHLikely benign-1RCV002720382; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159593659159593659NC_000004.11:g.159593659G>A-
NC_000004.11:g.(?_159601599)_(159620302_?)dup2110ETFDHLikely pathogenic-1RCV000799422; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601599159620302-
NM_004453.4(ETFDH):c.35-18T>A2110ETFDHLikely benign-1RCV002619453; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601601159601601NC_000004.11:g.159601601T>A-
NM_004453.4(ETFDH):c.35-16C>T2110ETFDHLikely benign-1RCV003066875; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601603159601603NC_000004.11:g.159601603C>T-
NM_004453.4(ETFDH):c.35-15G>A2110ETFDHLikely benign529832630RCV002140540; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601604159601604159601604-
NC_000004.11:g.(?_159601609)_(159620292_?)dup2110ETFDHLikely pathogenic-1RCV000801983; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601609159620292-
NM_004453.4(ETFDH):c.35-8T>C2110ETFDHLikely benign2150304318RCV002220644; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601611159601611159601611-
NM_004453.4(ETFDH):c.35-7T>C2110ETFDHLikely benign2150304320RCV001458781; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601612159601612159601612-
NM_004453.4(ETFDH):c.35-6G>A2110ETFDHLikely benign753999138RCV002078295; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601613159601613159601613-
NM_004453.4(ETFDH):c.35-6G>T2110ETFDHLikely benign753999138RCV002087039; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601613159601613159601613-
NM_004453.4(ETFDH):c.35-4G>A2110ETFDHLikely benign-1RCV002710921; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601615159601615NC_000004.11:g.159601615G>A-
NM_004453.4(ETFDH):c.35-3C>A2110ETFDHUncertain significance1554031296RCV000533347; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596016161596016164:g.159601616C>AClinGen:CA658657405C0268596 231680 Glutaric aciduria, type 2;
NM_004453.4(ETFDH):c.36del (p.Tyr13fs)2110ETFDHPathogenic2150304327RCV000012807|RCV003473080; NMONDO:MONDO:0700076,MedGen:C3278156|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601620159601620159601619OMIM:231675.0002
NM_004453.4(ETFDH):c.36A>G (p.Ala12=)2110ETFDHLikely benign201254467RCV000975679; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596016201596016204:g.159601620A>G-
NM_004453.4(ETFDH):c.42G>C (p.Gln14His)2110ETFDHUncertain significance-1RCV002618350; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601626159601626NC_000004.11:g.159601626G>C-
NM_004453.4(ETFDH):c.43T>A (p.Cys15Ser)2110ETFDHUncertain significance-1RCV002588806; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601627159601627NC_000004.11:g.159601627T>A-
NM_004453.4(ETFDH):c.46T>A (p.Phe16Ile)2110ETFDHUncertain significance-1RCV002775712; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601630159601630NC_000004.11:g.159601630T>A-
NM_004453.4(ETFDH):c.51dup (p.Ala18fs)2110ETFDHPathogenic796051964RCV000175781|RCV000185906; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C366190041596016341596016354:g.159601634_159601635insTClinGen:CA312554C0268596 231680 Glutaric aciduria, type 2;
NM_004453.4(ETFDH):c.54C>T (p.Ala18=)2110ETFDHLikely benign-1RCV002843073; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601638159601638-
NM_004453.4(ETFDH):c.56del (p.Ala18_Leu19insTer)2110ETFDHPathogenic/Likely pathogenic2150304339RCV001881500; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601639159601639159601638-
NM_004453.4(ETFDH):c.61A>T (p.Ile21Phe)2110ETFDHUncertain significance780991832RCV001279047; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596016451596016454:g.159601645A>T-
NM_004453.4(ETFDH):c.63T>C (p.Ile21=)2110ETFDHConflicting interpretations of pathogenicity566605780RCV000341906; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601647159601647NC_000004.11:g.159601647T>CClinGen:CA3122276C0268596 231680 Glutaric aciduria, type 2;
NM_004453.4(ETFDH):c.71dup (p.Asn24fs)2110ETFDHPathogenic2150304342RCV001965033; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601650159601651159601650-
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser)2110ETFDHConflicting interpretations of pathogenicity537038850RCV000153200|RCV000392257|RCV001831952; NMedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|41596016631596016634:g.159601663C>TClinGen:CA233953C0268596 231680 Glutaric aciduria, type 2;
NM_004453.4(ETFDH):c.84A>G (p.Leu28=)2110ETFDHLikely benign1053865022RCV001434584; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601668159601668159601668-
NM_004453.4(ETFDH):c.88G>A (p.Ala30Thr)2110ETFDHUncertain significance1340326448RCV001218979|RCV001833899; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|41596016721596016724:g.159601672G>A-
NM_004453.4(ETFDH):c.91A>G (p.Thr31Ala)2110ETFDHConflicting interpretations of pathogenicity182144074RCV000185888|RCV000297924; NMedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601675159601675NC_000004.11:g.159601675A>GClinGen:CA312521C0268596 231680 Glutaric aciduria, type 2;
NM_004453.4(ETFDH):c.92C>T (p.Thr31Ile)2110ETFDHBenign11559290RCV000081080|RCV000355141|RCV000676844|RCV001826769; NMedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900|41596016761596016764:g.159601676C>TClinGen:CA148156,UniProtKB:Q16134#VAR_062966C0268596 231680 Glutaric aciduria, type 2;
NM_004453.4(ETFDH):c.92delinsTA (p.Thr31fs)2110ETFDHLikely pathogenic-1RCV003476392; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601676159601676-
NM_004453.4(ETFDH):c.98G>A (p.Trp33Ter)2110ETFDHPathogenic1169197181RCV001919576; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601682159601682159601682-
NM_004453.4(ETFDH):c.100T>A (p.Ser34Thr)2110ETFDHUncertain significance-1RCV002943844; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601684159601684NC_000004.11:g.159601684T>A-
NM_004453.4(ETFDH):c.104C>A (p.Ser35Ter)2110ETFDHLikely pathogenic-1RCV003476378; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601688159601688-
NM_004453.4(ETFDH):c.108T>G (p.Thr36=)2110ETFDHLikely benign140731939RCV002144948; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601692159601692159601692-
NM_004453.4(ETFDH):c.114T>C (p.Thr38=)2110ETFDHLikely benign-1RCV002834305; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601698159601698-
NM_004453.4(ETFDH):c.117G>A (p.Val39=)2110ETFDHLikely benign2150304380RCV001465620; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601701159601701159601701-
NM_004453.4(ETFDH):c.121C>T (p.Arg41Ter)2110ETFDHPathogenic773668457RCV000699705|RCV001814220; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|Human Phenotype Ontology:HP:0001939,Human Phenotype Ontology:HP:0002146,MedGen:C40217684159601705159601705NC_000004.11:g.159601705C>T-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.4(ETFDH):c.122G>A (p.Arg41Gln)2110ETFDHConflicting interpretations of pathogenicity150105001RCV002210294|RCV002261450; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C36619004159601706159601706159601706-
NM_004453.4(ETFDH):c.125T>C (p.Ile42Thr)2110ETFDHUncertain significance-1RCV003086052; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601709159601709NC_000004.11:g.159601709T>C-
NM_004453.4(ETFDH):c.129T>C (p.Thr43=)2110ETFDHLikely benign-1RCV003090078; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601713159601713-
NM_004453.4(ETFDH):c.139A>G (p.Thr47Ala)2110ETFDHUncertain significance924962456RCV001934241; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601723159601723159601723-
NM_004453.4(ETFDH):c.142A>G (p.Ile48Val)2110ETFDHConflicting interpretations of pathogenicity201823591RCV000392282; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601726159601726NC_000004.11:g.159601726A>GClinGen:CA3122283C0268596 231680 Glutaric aciduria, type 2;
NM_004453.4(ETFDH):c.148C>T (p.Pro50Ser)2110ETFDHUncertain significance937646249RCV001279048; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596017321596017324:g.159601732C>T-
NM_004453.4(ETFDH):c.151C>T (p.Arg51Trp)2110ETFDHLikely pathogenic187248590RCV002028365; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601735159601735159601735-
NM_004453.4(ETFDH):c.152G>A (p.Arg51Gln)2110ETFDHPathogenic/Likely pathogenic534388496RCV001319011|RCV001836301; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|4159601736159601736159601736-
NM_004453.4(ETFDH):c.152G>T (p.Arg51Leu)2110ETFDHLikely pathogenic534388496RCV001963736; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601736159601736159601736-
NM_004453.4(ETFDH):c.152G>C (p.Arg51Pro)2110ETFDHLikely pathogenic534388496RCV001980762; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601736159601736159601736-
NM_004453.4(ETFDH):c.154G>A (p.Asp52Asn)2110ETFDHUncertain significance2150304401RCV001991735; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601738159601738159601738-
NM_004453.4(ETFDH):c.163_164del (p.Lys55fs)2110ETFDHPathogenic2150304416RCV001972651; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601747159601748159601746-
NM_004453.4(ETFDH):c.164A>G (p.Lys55Arg)2110ETFDHUncertain significance-1RCV002805939; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601748159601748NC_000004.11:g.159601748A>G-
NM_004453.4(ETFDH):c.169T>C (p.Trp57Arg)2110ETFDHLikely pathogenic1773829495RCV002006312; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601753159601753159601753-
NM_004453.4(ETFDH):c.170G>A (p.Trp57Ter)2110ETFDHLikely pathogenic-1RCV003476393; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601754159601754-
NM_004453.4(ETFDH):c.172G>T (p.Glu58Ter)2110ETFDHPathogenic-1RCV002830247; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601756159601756NC_000004.11:g.159601756G>T-
NM_004453.4(ETFDH):c.175+1del2110ETFDHPathogenic/Likely pathogenic2150304426RCV001727303|RCV002032696; NMedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601759159601759159601758-
NM_004453.4(ETFDH):c.175+2T>C2110ETFDHPathogenic-1RCV003476389; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601761159601761-
NM_004453.4(ETFDH):c.175+3A>G2110ETFDHLikely benign781151266RCV000925945|RCV001719067; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C366190041596017621596017624:g.159601762A>GClinGen:CA3122289CN169374 not specified;
NM_004453.4(ETFDH):c.175+15G>C2110ETFDHLikely benign2150304437RCV002208500; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601774159601774159601774-
NM_004453.4(ETFDH):c.175+18T>A2110ETFDHLikely benign778154689RCV002209932; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601777159601777159601777-
NM_004453.4(ETFDH):c.175+19A>G2110ETFDHLikely benign-1RCV002599937; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159601778159601778NC_000004.11:g.159601778A>G-
NM_004453.4(ETFDH):c.176-7C>T2110ETFDHLikely benign776816664RCV001441782; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603340159603340159603340-
NM_004453.4(ETFDH):c.176-5C>T2110ETFDHLikely benign2150305143RCV001501232; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603342159603342159603342-
NM_004453.4(ETFDH):c.176-2A>T2110ETFDHLikely pathogenic1485038306RCV001219278|RCV001833902; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|41596033451596033454:g.159603345A>T-
NM_004453.4(ETFDH):c.180G>A (p.Val60=)2110ETFDHLikely benign-1RCV002907680; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603351159603351-
NM_004453.4(ETFDH):c.183C>T (p.Asn61=)2110ETFDHLikely benign2150305147RCV001456461; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603354159603354159603354-
NM_004453.4(ETFDH):c.191G>C (p.Arg64Thr)2110ETFDHUncertain significance-1RCV003340802; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603362159603362-
NM_004453.4(ETFDH):c.207del (p.Asp70fs)2110ETFDHPathogenic1773877563RCV001063451; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596033781596033784:g.159603378_159603378del-
NM_004453.4(ETFDH):c.214G>A (p.Val72Ile)2110ETFDHUncertain significance-1RCV003107145; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603385159603385NC_000004.11:g.159603385G>A-
NM_004453.4(ETFDH):c.219A>T (p.Ile73=)2110ETFDHLikely benign1297866480RCV001392851; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603390159603390159603390-
NM_004453.4(ETFDH):c.226G>A (p.Ala76Thr)2110ETFDHLikely pathogenic1430630684RCV001836609; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603397159603397159603397-
NM_004453.4(ETFDH):c.234T>A (p.Pro78=)2110ETFDHLikely benign-1RCV003059235; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603405159603405-
NM_004453.4(ETFDH):c.243C>G (p.Leu81=)2110ETFDHLikely benign1186680703RCV002220362; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603414159603414159603414-
NM_004453.4(ETFDH):c.244T>C (p.Ser82Pro)2110ETFDHLikely pathogenic-1RCV003476380; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603415159603415-
NM_004453.4(ETFDH):c.245C>T (p.Ser82Phe)2110ETFDHConflicting interpretations of pathogenicity-1RCV003388535|RCV003475572|RCV003420682; NMedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|4159603416159603416-
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr)2110ETFDHConflicting interpretations of pathogenicity121964954RCV000012808|RCV000224728|RCV000553294|RCV003231099; NMONDO:MONDO:0700076,MedGen:C3278156|MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|41596034211596034214:g.159603421G>AClinGen:CA121817,UniProtKB:Q16134#VAR_075442,OMIM:231675.0003C3278156 Glutaric acidemia IIC;
NM_004453.4(ETFDH):c.251C>T (p.Ala84Val)2110ETFDHPathogenic/Likely pathogenic1580396712RCV002035269; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603422159603422159603422-
NM_004453.4(ETFDH):c.256C>T (p.Arg86Cys)2110ETFDHUncertain significance1242099513RCV001346599|RCV001825932; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|4159603427159603427159603427-
NM_004453.4(ETFDH):c.257G>A (p.Arg86His)2110ETFDHUncertain significance777655131RCV001698747; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603428159603428159603428-
NM_004453.4(ETFDH):c.259C>T (p.Leu87=)2110ETFDHLikely benign2150305192RCV001482585; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603430159603430159603430-
NM_004453.4(ETFDH):c.265_266del (p.Gln89fs)2110ETFDHPathogenic1773880008RCV001248026; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596034351596034364:g.159603435_159603436del-
NM_004453.4(ETFDH):c.265C>T (p.Gln89Ter)2110ETFDHPathogenic2150305196RCV001928266; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603436159603436159603436-
NM_004453.4(ETFDH):c.267G>A (p.Gln89=)2110ETFDHLikely benign1773880095RCV001487672; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603438159603438159603438-
NM_004453.4(ETFDH):c.269T>A (p.Leu90Ter)2110ETFDHPathogenic/Likely pathogenic749085653RCV001970056; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603440159603440159603440-
NM_004453.4(ETFDH):c.269T>C (p.Leu90Ser)2110ETFDHUncertain significance-1RCV002908245; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603440159603440NC_000004.11:g.159603440T>C-
NM_004453.4(ETFDH):c.270G>A (p.Leu90=)2110ETFDHLikely benign2150305205RCV002106863; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603441159603441159603441-
NM_004453.4(ETFDH):c.271G>T (p.Ala91Ser)2110ETFDHUncertain significance1208091864RCV001937169; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603442159603442159603442-
NM_004453.4(ETFDH):c.272C>A (p.Ala91Asp)2110ETFDHUncertain significance1773880547RCV001148072; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596034431596034434:g.159603443C>A-
NM_004453.4(ETFDH):c.282T>C (p.His94=)2110ETFDHLikely benign-1RCV003015209; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603453159603453-
NM_004453.4(ETFDH):c.284A>G (p.Glu95Gly)2110ETFDHUncertain significance1580396806RCV000813094|RCV001830777; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|41596034551596034554:g.159603455A>G-
NM_004453.4(ETFDH):c.285A>G (p.Glu95=)2110ETFDHLikely benign201268972RCV001476468; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603456159603456159603456-
NM_004453.4(ETFDH):c.288G>A (p.Lys96=)2110ETFDHLikely benign-1RCV002735908; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603459159603459-
NM_004453.4(ETFDH):c.291C>T (p.Asp97=)2110ETFDHLikely benign2150305224RCV001445595; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603462159603462159603462-
NM_004453.4(ETFDH):c.302_303dup (p.Leu102fs)2110ETFDHPathogenic/Likely pathogenic796051962RCV000185904|RCV000698712|RCV003398924; NMedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|4159603466159603467NC_000004.11:g.159603467GT[5]ClinGen:CA312552C0268596 231680 Glutaric aciduria, type 2;
NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys)2110ETFDHPathogenic/Likely pathogenic371493232RCV000987486|RCV001832301|RCV002255101; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791||MONDO:MONDO:0700076,MedGen:C327815641596034661596034664:g.159603466C>T-
NM_004453.4(ETFDH):c.296G>A (p.Arg99His)2110ETFDHConflicting interpretations of pathogenicity376630579RCV001378006|RCV001762662|RCV003323872; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900|MedGen:CN1693744159603467159603467159603467-
NM_004453.4(ETFDH):c.296G>C (p.Arg99Pro)2110ETFDHLikely pathogenic376630579RCV002017019; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603467159603467159603467-
NM_004453.4(ETFDH):c.299T>A (p.Val100Glu)2110ETFDHLikely pathogenic-1RCV003476382; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603470159603470-
NM_004453.4(ETFDH):c.300G>A (p.Val100=)2110ETFDHLikely benign1580396868RCV002208025; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603471159603471159603471-
NM_004453.4(ETFDH):c.306A>C (p.Leu102=)2110ETFDHLikely benign2150305233RCV001394764; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603477159603477159603477-
NM_004453.4(ETFDH):c.306A>G (p.Leu102=)2110ETFDHLikely benign2150305233RCV001398425; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603477159603477159603477-
NM_004453.4(ETFDH):c.312G>A (p.Glu104=)2110ETFDHLikely benign-1RCV002856365; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603483159603483-
NM_004453.4(ETFDH):c.320C>T (p.Ala107Val)2110ETFDHUncertain significance-1RCV002638105; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603491159603491NC_000004.11:g.159603491C>T-
NM_004453.4(ETFDH):c.330A>C (p.Gly110=)2110ETFDHLikely benign2150305251RCV001445901; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603501159603501159603501-
NM_004453.4(ETFDH):c.336_345del (p.His112fs)2110ETFDHLikely pathogenic-1RCV003476368; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603503159603512-
NM_004453.4(ETFDH):c.334C>A (p.His112Asn)2110ETFDHUncertain significance1773883564RCV001203670|RCV001836136; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|41596035051596035054:g.159603505C>A-
NM_004453.4(ETFDH):c.339T>G (p.Thr113=)2110ETFDHLikely benign-1RCV002815246; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603510159603510-
NM_004453.4(ETFDH):c.342C>T (p.Leu114=)2110ETFDHLikely benign770193214RCV001498918; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603513159603513159603513-
NM_004453.4(ETFDH):c.343T>A (p.Ser115Thr)2110ETFDHUncertain significance-1RCV003153148; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603514159603514-
NM_004453.4(ETFDH):c.344C>G (p.Ser115Ter)2110ETFDHPathogenic/Likely pathogenic2150305273RCV001951472; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603515159603515159603515-
NM_004453.4(ETFDH):c.348G>A (p.Gly116=)2110ETFDHLikely benign-1RCV002761673; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603519159603519-
NM_004453.4(ETFDH):c.349G>C (p.Ala117Pro)2110ETFDHUncertain significance763106795RCV002005554; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603520159603520159603520-
NM_004453.4(ETFDH):c.350C>A (p.Ala117Asp)2110ETFDHLikely pathogenic1773884764RCV001995333; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603521159603521159603521-
NM_004453.4(ETFDH):c.352T>G (p.Cys118Gly)2110ETFDHUncertain significance2150305281RCV001916390; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603523159603523159603523-
NM_004453.4(ETFDH):c.353G>T (p.Cys118Phe)2110ETFDHUncertain significance1467428857RCV001247992; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596035241596035244:g.159603524G>T-
NM_004453.4(ETFDH):c.358G>C (p.Asp120His)2110ETFDHUncertain significance-1RCV003082035|RCV003269443; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C09501234159603529159603529NC_000004.11:g.159603529G>C-
NM_004453.4(ETFDH):c.359A>G (p.Asp120Gly)2110ETFDHUncertain significance1773885189RCV001351196; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603530159603530159603530-
NM_004453.4(ETFDH):c.363A>G (p.Pro121=)2110ETFDHLikely benign1773885365RCV001470421; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603534159603534159603534-
NM_004453.4(ETFDH):c.373A>G (p.Lys125Glu)2110ETFDHUncertain significance-1RCV002592879; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603544159603544NC_000004.11:g.159603544A>G-
NM_004453.4(ETFDH):c.376G>A (p.Glu126Lys)2110ETFDHUncertain significance1773885660RCV001351521|RCV001831170; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|4159603547159603547159603547-
NM_004453.4(ETFDH):c.379C>T (p.Leu127Phe)2110ETFDHLikely pathogenic-1RCV002928699; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603550159603550NC_000004.11:g.159603550C>T-
NM_004453.4(ETFDH):c.380T>A (p.Leu127His)2110ETFDHPathogenic121964956RCV000012810|RCV000721976; NMONDO:MONDO:0700076,MedGen:C3278156|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596035511596035514:g.159603551T>AClinGen:CA121821,UniProtKB:Q16134#VAR_075444,OMIM:231675.0005C3278156 Glutaric acidemia IIC;
NM_004453.4(ETFDH):c.380T>G (p.Leu127Arg)2110ETFDHPathogenic121964956RCV001951158; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603551159603551159603551-
NM_004453.4(ETFDH):c.381C>T (p.Leu127=)2110ETFDHBenign/Likely benign149278633RCV000153201|RCV000634899|RCV001704110; NMedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C366190041596035521596035524:g.159603552C>TClinGen:CA180001C0268596 231680 Glutaric aciduria, type 2;
NM_004453.4(ETFDH):c.386del (p.Pro129fs)2110ETFDHPathogenic2150305297RCV001390882; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603555159603555159603554-
NM_004453.4(ETFDH):c.385C>T (p.Pro129Ser)2110ETFDHUncertain significance985343342RCV001317846; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603556159603556159603556-
NM_004453.4(ETFDH):c.387A>G (p.Pro129=)2110ETFDHLikely benign1295185280RCV001452051; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603558159603558159603558-
NM_004453.4(ETFDH):c.389A>T (p.Asp130Val)2110ETFDHPathogenic199899494RCV000813251; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596035601596035604:g.159603560A>T-
NM_004453.4(ETFDH):c.393G>A (p.Trp131Ter)2110ETFDHLikely pathogenic-1RCV003476383; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603564159603564-
NM_004453.4(ETFDH):c.398_402del (p.Glu133fs)2110ETFDHPathogenic2150305310RCV001783211; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603566159603570159603565-
NM_004453.4(ETFDH):c.399G>A (p.Glu133=)2110ETFDHLikely benign1319398122RCV000930121; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596035701596035704:g.159603570G>A-
NM_004453.4(ETFDH):c.405+1G>T2110ETFDHLikely pathogenic2150305321RCV001971199; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603577159603577159603577-
NM_004453.4(ETFDH):c.405+3A>T2110ETFDHPathogenic/Likely pathogenic796051965RCV000185907|RCV000809835; NMedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603579159603579NC_000004.11:g.159603579A>TClinGen:CA312555CN517202 not provided;
NM_004453.4(ETFDH):c.405+3A>G2110ETFDHConflicting interpretations of pathogenicity796051965RCV001329258|RCV001509240|RCV001844286; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN517202|MedGen:CN1693744159603579159603579159603579-
NM_004453.4(ETFDH):c.405+11T>C2110ETFDHLikely benign-1RCV002631294; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603587159603587NC_000004.11:g.159603587T>C-
NM_004453.4(ETFDH):c.405+13G>A2110ETFDHLikely benign375086504RCV002119702; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603589159603589159603589-
NM_004453.4(ETFDH):c.405+19dup2110ETFDHBenign-1RCV002631543; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159603589159603590NC_000004.11:g.159603595dup-
NM_004453.4(ETFDH):c.406-5T>C2110ETFDHLikely benign-1RCV002948090; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159605739159605739NC_000004.11:g.159605739T>C-
NM_004453.4(ETFDH):c.406-2A>G2110ETFDHLikely pathogenic2150306282RCV001379754; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159605742159605742159605742-
NM_004453.4(ETFDH):c.406-1G>A2110ETFDHLikely pathogenic750189181RCV001377957; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159605743159605743159605743-
NM_004453.4(ETFDH):c.409C>T (p.Pro137Ser)2110ETFDHPathogenic-1RCV002651857; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159605747159605747NC_000004.11:g.159605747C>T-
NM_004453.4(ETFDH):c.410C>T (p.Pro137Leu)2110ETFDHUncertain significance-1RCV002283773; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159605748159605748159605748-
NM_004453.4(ETFDH):c.411A>C (p.Pro137=)2110ETFDHLikely benign1187372386RCV002219495; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159605749159605749159605749-
NM_004453.4(ETFDH):c.412C>T (p.Leu138Phe)2110ETFDHConflicting interpretations of pathogenicity-1RCV003061551|RCV003235766; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN1693744159605750159605750NC_000004.11:g.159605750C>T-
NM_004453.4(ETFDH):c.413T>G (p.Leu138Arg)2110ETFDHPathogenic/Likely pathogenic779896449RCV000498882|RCV000763115|RCV001266160; NMedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C095012341596057511596057514:g.159605751T>GClinGen:CA3122353CN517202 not provided;
NM_004453.4(ETFDH):c.414T>G (p.Leu138=)2110ETFDHConflicting interpretations of pathogenicity751256504RCV001148073; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596057521596057524:g.159605752T>G-
NM_004453.4(ETFDH):c.420T>C (p.Thr140=)2110ETFDHLikely benign-1RCV003063917; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159605758159605758-
NM_004453.4(ETFDH):c.423T>A (p.Pro141=)2110ETFDHLikely benign-1RCV003019073; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159605761159605761-
NM_004453.4(ETFDH):c.424G>A (p.Val142Ile)2110ETFDHUncertain significance146982178RCV001279049|RCV002542914; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C095012341596057621596057624:g.159605762G>A-
NM_004453.4(ETFDH):c.432_438del (p.Glu144fs)2110ETFDHPathogenic1231802914RCV001385871; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159605765159605771159605764-
NM_004453.4(ETFDH):c.430G>T (p.Glu144Ter)2110ETFDHLikely pathogenic-1RCV003476385; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159605768159605768-
NM_004453.4(ETFDH):c.441T>C (p.Phe147=)2110ETFDHLikely benign138149265RCV000604742|RCV000931480; NMedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596057791596057794:g.159605779T>CClinGen:CA3122359CN169374 not specified;
NM_004453.4(ETFDH):c.443_446dup (p.Ile149fs)2110ETFDHPathogenic1773954366RCV001233109; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596057801596057814:g.159605780_159605781insGAAT-
NM_004453.4(ETFDH):c.444A>C (p.Gly148=)2110ETFDHUncertain significance1773954457RCV001149618; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596057821596057824:g.159605782A>C-
NM_004453.4(ETFDH):c.454G>C (p.Glu152Gln)2110ETFDHUncertain significance2150306318RCV001915605; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159605792159605792159605792-
NM_004453.4(ETFDH):c.459A>G (p.Lys153=)2110ETFDHLikely benign749702132RCV000982390; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596057971596057974:g.159605797A>G-
NM_004453.4(ETFDH):c.462C>G (p.Tyr154Ter)2110ETFDHPathogenic/Likely pathogenic878853082RCV000224819|RCV002519760; NMedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596058001596058004:g.159605800C>GClinGen:CA10581378CN517202 not provided;
NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly)2110ETFDHConflicting interpretations of pathogenicity549150456RCV000489467|RCV000987487; NMedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596058011596058014:g.159605801A>GClinGen:CA108850123CN517202 not provided;
NM_004453.4(ETFDH):c.463A>T (p.Arg155Ter)2110ETFDHPathogenic549150456RCV002049210; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159605801159605801159605801-
NM_004453.4(ETFDH):c.468dup (p.Pro157fs)2110ETFDHPathogenic-1RCV002851115; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159605804159605805NC_000004.11:g.159605806dup-
NM_004453.4(ETFDH):c.471T>C (p.Pro157=)2110ETFDHLikely benign-1RCV002605146; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159605809159605809-
NM_004453.4(ETFDH):c.472G>A (p.Val158Met)2110ETFDHUncertain significance774614480RCV001990063; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159605810159605810159605810-
NM_004453.4(ETFDH):c.474G>A (p.Val158=)2110ETFDHLikely benign1350126940RCV000937004; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596058121596058124:g.159605812G>A-
NM_004453.4(ETFDH):c.477A>T (p.Pro159=)2110ETFDHLikely benign2150306341RCV001434344; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159605815159605815159605815-
NM_004453.4(ETFDH):c.477A>G (p.Pro159=)2110ETFDHLikely benign2150306341RCV002109019; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159605815159605815159605815-
NM_004453.4(ETFDH):c.485_487+14delinsT2110ETFDHPathogenic/Likely pathogenic796051963RCV000185905|RCV002517824|RCV003474943; NMedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596058231596058394:g.159605824_159605839delClinGen:CA312553CN517202 not provided;
NM_004453.4(ETFDH):c.485C>T (p.Pro162Leu)2110ETFDHUncertain significance1773956133RCV001069002; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596058231596058234:g.159605823C>T-
NM_004453.4(ETFDH):c.485_487+13del2110ETFDHLikely pathogenic1773956317RCV001236719; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596058231596058384:g.159605823_159605838del-
NM_004453.4(ETFDH):c.487+1G>A2110ETFDHLikely pathogenic1444488601RCV001213999; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596058261596058264:g.159605826G>A-
NM_004453.4(ETFDH):c.487+8A>T2110ETFDHLikely benign1773956780RCV002218824; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159605833159605833159605833-
NM_004453.4(ETFDH):c.487+9T>C2110ETFDHLikely benign-1RCV002805952; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159605834159605834NC_000004.11:g.159605834T>C-
NM_004453.4(ETFDH):c.487+14A>T2110ETFDHLikely benign-1RCV002610600; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159605839159605839NC_000004.11:g.159605839A>T-
NC_000004.11:g.(?_159606119)_(159616730_?)del2110ETFDHPathogenic-1RCV003113486; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159606119159616730-
NM_004453.4(ETFDH):c.488-12A>C2110ETFDHConflicting interpretations of pathogenicity180889150RCV001149619; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596062411596062414:g.159606241A>C-
NM_004453.4(ETFDH):c.488-12A>G2110ETFDHLikely benign180889150RCV002097895; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159606241159606241159606241-
NM_004453.4(ETFDH):c.488-9T>C2110ETFDHUncertain significance1554031705RCV000543533|RCV001829571; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|41596062441596062444:g.159606244T>CClinGen:CA658657406C0268596 231680 Glutaric aciduria, type 2;
NM_004453.4(ETFDH):c.488-1G>T2110ETFDHPathogenic/Likely pathogenic2150306551RCV001377173; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159606252159606252159606252-
NM_004453.4(ETFDH):c.492T>C (p.Leu164=)2110ETFDHLikely benign1773968944RCV001486823; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159606257159606257159606257-
NM_004453.4(ETFDH):c.504T>C (p.Asn168=)2110ETFDHLikely benign1773969287RCV001437399; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159606269159606269159606269-
NM_004453.4(ETFDH):c.507T>C (p.His169=)2110ETFDHLikely benign772286040RCV001448424|RCV001832235; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|41596062721596062724:g.159606272T>C-
NM_004453.4(ETFDH):c.510C>G (p.Gly170=)2110ETFDHLikely benign747148665RCV002167730; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159606275159606275159606275-
NM_004453.4(ETFDH):c.511A>G (p.Asn171Asp)2110ETFDHUncertain significance-1RCV002846655; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159606276159606276NC_000004.11:g.159606276A>G-
NM_004453.4(ETFDH):c.512A>G (p.Asn171Ser)2110ETFDHUncertain significance1773969792RCV001244050; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596062771596062774:g.159606277A>G-
NM_004453.4(ETFDH):c.523C>T (p.Arg175Cys)2110ETFDHConflicting interpretations of pathogenicity762928354RCV000485144|RCV002525759; NMedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596062881596062884:g.159606288C>TClinGen:CA3122387CN517202 not provided;
NM_004453.4(ETFDH):c.524G>T (p.Arg175Leu)2110ETFDHPathogenic121964955RCV000012809|RCV002512994; NMONDO:MONDO:0700076,MedGen:C3278156|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596062891596062894:g.159606289G>TClinGen:CA121819,UniProtKB:Q16134#VAR_075447,OMIM:231675.0004C3278156 Glutaric acidemia IIC;
NM_004453.4(ETFDH):c.524G>A (p.Arg175His)2110ETFDHPathogenic/Likely pathogenic121964955RCV000024282|RCV001216553|RCV001826506; NMONDO:MONDO:0700076,MedGen:C3278156|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|41596062891596062894:g.159606289G>AClinGen:CA129815,UniProtKB:Q16134#VAR_075446,OMIM:231675.0006C3278156 Glutaric acidemia IIC;
NM_004453.4(ETFDH):c.529G>A (p.Gly177Arg)2110ETFDHUncertain significance-1RCV003106761; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159606294159606294NC_000004.11:g.159606294G>A-
NM_004453.4(ETFDH):c.540G>T (p.Val180=)2110ETFDHLikely benign1580400148RCV001487184; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596063051596063054:g.159606305G>T-
NM_004453.4(ETFDH):c.540G>C (p.Val180=)2110ETFDHLikely benign-1RCV002633636; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159606305159606305-
NM_004453.4(ETFDH):c.545G>A (p.Trp182Ter)2110ETFDHConflicting interpretations of pathogenicity767249944RCV000778725|RCV001830667; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|4159606310159606310NC_000004.11:g.159606310G>A-
NM_004453.4(ETFDH):c.549G>A (p.Met183Ile)2110ETFDHUncertain significance-1RCV003448784; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159606314159606314-
NM_004453.4(ETFDH):c.552C>T (p.Gly184=)2110ETFDHLikely benign752262349RCV001502417; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159606317159606317159606317-
NM_004453.4(ETFDH):c.553G>A (p.Glu185Lys)2110ETFDHUncertain significance-1RCV002638328|RCV003162083; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C09501234159606318159606318NC_000004.11:g.159606318G>A-
NM_004453.4(ETFDH):c.558A>G (p.Gln186=)2110ETFDHLikely benign143688210RCV002116928; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159606323159606323159606323-
NM_004453.4(ETFDH):c.560C>T (p.Ala187Val)2110ETFDHConflicting interpretations of pathogenicity369912835RCV000479281|RCV001865424; NMedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596063251596063254:g.159606325C>TClinGen:CA3122394CN517202 not provided;
NM_004453.4(ETFDH):c.561A>G (p.Ala187=)2110ETFDHLikely benign1318375497RCV001397188; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596063261596063264:g.159606326A>G-
NM_004453.4(ETFDH):c.567C>T (p.Ala189=)2110ETFDHLikely benign1773972695RCV002090578; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159606332159606332159606332-
NM_004453.4(ETFDH):c.569T>C (p.Leu190Pro)2110ETFDHUncertain significance1255103931RCV001878326; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159606334159606334159606334-
NM_004453.4(ETFDH):c.572G>A (p.Gly191Asp)2110ETFDHConflicting interpretations of pathogenicity147219158RCV000185892|RCV001079922|RCV001199401; NMedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:21756941596063371596063374:g.159606337G>AClinGen:CA312529CN169374 not specified;
NM_004453.4(ETFDH):c.577del (p.Glu193fs)2110ETFDHLikely pathogenic-1RCV003476388; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159606342159606342-
NM_004453.4(ETFDH):c.583_584dup (p.Pro196fs)2110ETFDHLikely pathogenic2150306625RCV001698748; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159606345159606346159606345-
NM_004453.4(ETFDH):c.582A>G (p.Val194=)2110ETFDHLikely benign2150306629RCV001423047; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159606347159606347159606347-
NM_004453.4(ETFDH):c.586C>G (p.Pro196Ala)2110ETFDHUncertain significance201067972RCV001279050; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596063511596063514:g.159606351C>G-
NM_004453.4(ETFDH):c.586C>A (p.Pro196Thr)2110ETFDHUncertain significance-1RCV002700802; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159606351159606351NC_000004.11:g.159606351C>A-
NM_004453.4(ETFDH):c.587_588delinsAA (p.Pro196Gln)2110ETFDHUncertain significance2150306642RCV001997661; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159606352159606353159606352-
NM_004453.4(ETFDH):c.606+1G>A2110ETFDHLikely pathogenic1241072742RCV002034132; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159606372159606372159606372-
NM_004453.4(ETFDH):c.606+1G>T2110ETFDHLikely pathogenic-1RCV003476381; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159606372159606372-
NM_004453.4(ETFDH):c.606+10GTTTT[2]2110ETFDHLikely benign745580994RCV000841289|RCV001279051; NMedGen:CN517202|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596063811596063854:g.159606381_159606385del-
NM_004453.4(ETFDH):c.606+10G>A2110ETFDHLikely benign2150306651RCV002072378; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159606381159606381159606381-
NM_004453.4(ETFDH):c.606+13T>C2110ETFDHLikely benign-1RCV002824520; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159606384159606384NC_000004.11:g.159606384T>C-
NM_004453.4(ETFDH):c.606+14T>C2110ETFDHLikely benign139113830RCV002175010; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159606385159606385159606385-
NM_004453.4(ETFDH):c.606+1791G>A2110ETFDHBenign12644851RCV001517821; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159608162159608162159608162-
NC_000004.11:g.(?_159611480)_(159620302_?)del2110ETFDHPathogenic-1RCV001963200; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159611480159620302-1-
NM_004453.4(ETFDH):c.607-12dup2110ETFDHLikely benign527944729RCV001550025|RCV002072030; NMedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159611482159611483159611482-
NM_004453.4(ETFDH):c.607-12del2110ETFDHBenign-1RCV003013479; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159611483159611483NC_000004.11:g.159611488del-
NM_004453.4(ETFDH):c.607-9C>A2110ETFDHLikely benign-1RCV003031998; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159611491159611491NC_000004.11:g.159611491C>A-
NM_004453.4(ETFDH):c.607-8_607-7del2110ETFDHLikely benign2150308959RCV001393397; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159611492159611493159611491-
NM_004453.4(ETFDH):c.607-7T>C2110ETFDHLikely benign-1RCV002632499; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159611493159611493NC_000004.11:g.159611493T>C-
NM_004453.4(ETFDH):c.607-1G>T2110ETFDHLikely pathogenic760251231RCV001970838; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159611499159611499159611499-
NM_004453.4(ETFDH):c.607-1G>A2110ETFDHLikely pathogenic-1RCV003476370; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159611499159611499-
NM_004453.4(ETFDH):c.608T>C (p.Val203Ala)2110ETFDHUncertain significance-1RCV003073032; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159611501159611501NC_000004.11:g.159611501T>C-
NM_004453.4(ETFDH):c.624T>C (p.Asp208=)2110ETFDHLikely benign-1RCV002806780; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159611517159611517-
NM_004453.4(ETFDH):c.627T>C (p.Gly209=)2110ETFDHLikely benign148708761RCV000874951|RCV001703660; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C366190041596115201596115204:g.159611520T>CClinGen:CA3122416CN169374 not specified;
NM_004453.4(ETFDH):c.630T>C (p.Ser210=)2110ETFDHLikely benign1456188483RCV002185508; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159611523159611523159611523-
NM_004453.4(ETFDH):c.636A>T (p.Lys212Asn)2110ETFDHUncertain significance758859840RCV001237581; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596115291596115294:g.159611529A>T-
NM_004453.4(ETFDH):c.642T>C (p.Ile214=)2110ETFDHLikely benign201049444RCV000634901; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596115351596115354:g.159611535T>CClinGen:CA3122421C0268596 231680 Glutaric aciduria, type 2;
NM_004453.4(ETFDH):c.642T>G (p.Ile214Met)2110ETFDHUncertain significance201049444RCV001986385; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159611535159611535159611535-
NM_004453.4(ETFDH):c.643G>A (p.Ala215Thr)2110ETFDHLikely pathogenic-1RCV002651858; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159611536159611536NC_000004.11:g.159611536G>A-
NM_004453.4(ETFDH):c.651C>T (p.Asn217=)2110ETFDHLikely benign562079045RCV000944228; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596115441596115444:g.159611544C>T-
NM_004453.4(ETFDH):c.652G>A (p.Asp218Asn)2110ETFDHPathogenic/Likely pathogenic748289922RCV002038367; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159611545159611545159611545-
NM_004453.4(ETFDH):c.654T>C (p.Asp218=)2110ETFDHLikely benign1241684347RCV001503838; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159611547159611547159611547-
NM_004453.4(ETFDH):c.655G>A (p.Val219Ile)2110ETFDHUncertain significance-1RCV002585181; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159611548159611548NC_000004.11:g.159611548G>A-
NM_004453.4(ETFDH):c.660G>C (p.Gly220=)2110ETFDHLikely benign2150309010RCV001423664; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159611553159611553159611553-
NM_004453.4(ETFDH):c.662T>A (p.Ile221Lys)2110ETFDHUncertain significance1580406086RCV000797045; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596115551596115554:g.159611555T>A-
NM_004453.4(ETFDH):c.665A>C (p.Gln222Pro)2110ETFDHConflicting interpretations of pathogenicity1482632936RCV001533540|RCV001882597; NMedGen:C4016438|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159611558159611558159611558OMIM:231675.0009
NM_004453.4(ETFDH):c.672T>C (p.Asp224=)2110ETFDHLikely benign-1RCV002672191; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159611565159611565-
NM_004453.4(ETFDH):c.675T>C (p.Gly225=)2110ETFDHLikely benign-1RCV002851008; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159611568159611568-
NM_004453.4(ETFDH):c.678A>G (p.Ala226=)2110ETFDHLikely benign372865586RCV000611975|RCV001407287; NMedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596115711596115714:g.159611571A>GClinGen:CA3122426CN169374 not specified;
NM_004453.4(ETFDH):c.679C>A (p.Pro227Thr)2110ETFDHLikely pathogenic141407224RCV000558221; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596115721596115724:g.159611572C>AClinGen:CA3122427C0268596 231680 Glutaric aciduria, type 2;
NM_004453.4(ETFDH):c.684+3_684+9dup2110ETFDHLikely benign773592713RCV001421159; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596115781596115794:g.159611578_159611579insTAAACCT-
NM_004453.4(ETFDH):c.684+2T>G2110ETFDHPathogenic1580406119RCV000987488; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596115791596115794:g.159611579T>G-
NM_004453.4(ETFDH):c.684+13A>C2110ETFDHBenign/Likely benign149407913RCV000124917|RCV001149620; NMedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596115901596115904:g.159611590A>CClinGen:CA290770CN169374 not specified;
NC_000004.11:g.(?_159616098)_(159618829_?)del2110ETFDHPathogenic-1RCV003113487; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159616098159618829-
NM_004453.4(ETFDH):c.685-9G>C2110ETFDHLikely benign-1RCV002646730; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159616640159616640NC_000004.11:g.159616640G>C-
NM_004453.4(ETFDH):c.685-4del2110ETFDHBenign-1RCV003088671; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159616642159616642NC_000004.11:g.159616645del-
NM_004453.4(ETFDH):c.685-1G>A2110ETFDHLikely pathogenic-1RCV003476373; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159616648159616648-
NM_004453.4(ETFDH):c.685_691delinsTCCAG (p.Ala229fs)2110ETFDHLikely pathogenic-1RCV003476375; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159616649159616655-
NM_004453.4(ETFDH):c.687A>G (p.Ala229=)2110ETFDHLikely benign-1RCV002846485; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159616651159616651-
NM_004453.4(ETFDH):c.689C>T (p.Thr230Ile)2110ETFDHUncertain significance999532162RCV000795887|RCV001830709; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|41596166531596166534:g.159616653C>T-
NM_004453.4(ETFDH):c.697A>G (p.Arg233Gly)2110ETFDHUncertain significance-1RCV002611312; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159616661159616661NC_000004.11:g.159616661A>G-
NM_004453.4(ETFDH):c.700G>A (p.Gly234Arg)2110ETFDHUncertain significance1032041993RCV000804982|RCV001825593; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|41596166641596166644:g.159616664G>A-
NM_004453.4(ETFDH):c.709C>T (p.Leu237=)2110ETFDHLikely benign2150310947RCV001473852; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159616673159616673159616673-
NM_004453.4(ETFDH):c.714T>C (p.His238=)2110ETFDHLikely benign-1RCV002633312; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159616678159616678-
NM_004453.4(ETFDH):c.723del (p.Thr242fs)2110ETFDHLikely pathogenic-1RCV003476395; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159616687159616687-
NM_004453.4(ETFDH):c.726A>G (p.Thr242=)2110ETFDHLikely benign2150310952RCV002162771; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159616690159616690159616690-
NM_004453.4(ETFDH):c.728T>C (p.Ile243Thr)2110ETFDHUncertain significance1397900640RCV001762929|RCV002543945; NMedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159616692159616692159616692-
NM_004453.4(ETFDH):c.731T>C (p.Phe244Ser)2110ETFDHConflicting interpretations of pathogenicity1448673327RCV001149621|RCV002275296; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C366190041596166951596166954:g.159616695T>C-
NM_004453.4(ETFDH):c.733G>A (p.Ala245Thr)2110ETFDHConflicting interpretations of pathogenicity371260517RCV000185893|RCV001827992|RCV002517823; NMedGen:CN169374||MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596166971596166974:g.159616697G>AClinGen:CA312531CN169374 not specified;
NM_004453.4(ETFDH):c.736G>A (p.Glu246Lys)2110ETFDHPathogenic-1RCV003476398; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159616700159616700-
NM_004453.4(ETFDH):c.738A>G (p.Glu246=)2110ETFDHLikely benign1212314821RCV002176692; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159616702159616702159616702-
NM_004453.4(ETFDH):c.750A>T (p.Gly250=)2110ETFDHLikely benign2150310974RCV001394281; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159616714159616714159616714-
NM_004453.4(ETFDH):c.761A>G (p.Lys254Arg)2110ETFDHUncertain significance1580411844RCV000823480; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596167251596167254:g.159616725A>G-
NM_004453.4(ETFDH):c.768A>G (p.Leu256=)2110ETFDHLikely benign1481843055RCV002115028; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159616732159616732159616732-
NM_004453.4(ETFDH):c.769T>C (p.Tyr257His)2110ETFDHLikely pathogenic1441657866RCV001223416; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596167331596167334:g.159616733T>C-
NM_004453.4(ETFDH):c.770A>G (p.Tyr257Cys)2110ETFDHPathogenic780015493RCV000824611; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596167341596167344:g.159616734A>G-
NM_004453.4(ETFDH):c.774G>A (p.Lys258=)2110ETFDHLikely benign1014508077RCV001485686; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159616738159616738159616738-
NM_004453.4(ETFDH):c.777G>A (p.Lys259=)2110ETFDHLikely benign1365101415RCV002140070; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159616741159616741159616741-
NM_004453.4(ETFDH):c.783_787del (p.Asp261fs)2110ETFDHLikely pathogenic-1RCV003476361; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159616742159616746-
NM_004453.4(ETFDH):c.783T>C (p.Asp261=)2110ETFDHLikely benign-1RCV002834318; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159616747159616747-
NM_004453.4(ETFDH):c.784T>G (p.Leu262Val)2110ETFDHUncertain significance-1RCV002289474; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159616748159616748159616748-
NM_004453.4(ETFDH):c.786G>T (p.Leu262Phe)2110ETFDHConflicting interpretations of pathogenicity1450977775RCV001329259; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159616750159616750159616750-
NM_004453.4(ETFDH):c.805C>G (p.Gln269Glu)2110ETFDHUncertain significance1580411897RCV000816683; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596167691596167694:g.159616769C>G-
NM_004453.4(ETFDH):c.806A>T (p.Gln269Leu)2110ETFDHLikely pathogenic776320810RCV002000652; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159616770159616770159616770-
NM_004453.4(ETFDH):c.807A>C (p.Gln269His)2110ETFDHUncertain significance1265381182RCV000685445|RCV001829892; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|4159616771159616771NC_000004.11:g.159616771A>C-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.4(ETFDH):c.808A>G (p.Thr270Ala)2110ETFDHUncertain significance398124154RCV000081079|RCV002515777; NMedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159616772159616772NC_000004.11:g.159616772A>GClinGen:CA222711CN169374 not specified;
NM_004453.4(ETFDH):c.813C>T (p.Tyr271=)2110ETFDHLikely benign-1RCV003089362; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159616777159616777-
NM_004453.4(ETFDH):c.814G>A (p.Gly272Arg)2110ETFDHPathogenic/Likely pathogenic763541530RCV001051962|RCV001545243; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C366190041596167781596167784:g.159616778G>A-
NM_004453.4(ETFDH):c.818T>C (p.Ile273Thr)2110ETFDHUncertain significance-1RCV003052510; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159616782159616782NC_000004.11:g.159616782T>C-
NM_004453.4(ETFDH):c.831+1G>A2110ETFDHLikely pathogenic-1RCV003476394; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159616796159616796-
NM_004453.4(ETFDH):c.831+2T>G2110ETFDHLikely pathogenic-1RCV002750611; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159616797159616797NC_000004.11:g.159616797T>G-
NM_004453.4(ETFDH):c.831+3A>C2110ETFDHLikely pathogenic1426349276RCV001377216; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159616798159616798159616798-
NM_004453.4(ETFDH):c.831+4T>C2110ETFDHConflicting interpretations of pathogenicity752971257RCV000698477|RCV001585642|RCV002534358; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN517202|MeSH:D030342,MedGen:C09501234159616799159616799NC_000004.11:g.159616799T>C-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.4(ETFDH):c.831+6C>T2110ETFDHUncertain significance-1RCV002907981; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159616801159616801NC_000004.11:g.159616801C>T-
NM_004453.4(ETFDH):c.831+18T>C2110ETFDHLikely benign-1RCV002885135; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159616813159616813NC_000004.11:g.159616813T>C-
NM_004453.4(ETFDH):c.832-19T>G2110ETFDHLikely benign775057755RCV002093840; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159618692159618692159618692-
NM_004453.4(ETFDH):c.832-3dup2110ETFDHBenign376153836RCV002129825; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159618695159618696159618695-
NM_004453.4(ETFDH):c.832-10T>G2110ETFDHConflicting interpretations of pathogenicity200911913RCV000124918|RCV000676845|RCV001079915; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596187011596187014:g.159618701T>GClinGen:CA290771CN517202 not provided;
NM_004453.4(ETFDH):c.832-8T>A2110ETFDHLikely benign912481593RCV001396396; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159618703159618703159618703-
NM_004453.4(ETFDH):c.832-5T>C2110ETFDHUncertain significance768022965RCV001890587; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159618706159618706159618706-
NM_004453.4(ETFDH):c.834A>G (p.Leu278=)2110ETFDHLikely benign761077518RCV001453170; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159618713159618713159618713-
NM_004453.4(ETFDH):c.835T>C (p.Trp279Arg)2110ETFDHConflicting interpretations of pathogenicity754082348RCV001243666; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596187141596187144:g.159618714T>C-
NM_004453.4(ETFDH):c.841A>G (p.Ile281Val)2110ETFDHUncertain significance761854400RCV000634898|RCV002528869; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C09501234159618720159618720NC_000004.11:g.159618720A>GClinGen:CA3122480C0268596 231680 Glutaric aciduria, type 2;
NM_004453.4(ETFDH):c.843T>A (p.Ile281=)2110ETFDHUncertain significance765239908RCV001149622; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596187221596187224:g.159618722T>A-
NM_004453.4(ETFDH):c.846T>C (p.Asp282=)2110ETFDHLikely benign371927583RCV000605057|RCV002063960; NMedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596187251596187254:g.159618725T>CClinGen:CA3122482CN169374 not specified;
NM_004453.4(ETFDH):c.858G>A (p.Trp286Ter)2110ETFDHPathogenic1235904433RCV001068689; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596187371596187374:g.159618737G>A-
NM_004453.4(ETFDH):c.865G>A (p.Gly289Arg)2110ETFDHUncertain significance1774343332RCV001064802; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596187441596187444:g.159618744G>A-
NM_004453.4(ETFDH):c.867G>A (p.Gly289=)2110ETFDHLikely benign1774343547RCV002215573; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159618746159618746159618746-
NM_004453.4(ETFDH):c.870A>G (p.Arg290=)2110ETFDHLikely benign752487495RCV002159517; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159618749159618749159618749-
NM_004453.4(ETFDH):c.872T>G (p.Val291Gly)2110ETFDHPathogenic755907131RCV001941612; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159618751159618751159618751-
NM_004453.4(ETFDH):c.879C>T (p.His293=)2110ETFDHLikely benign1774344228RCV002185190; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159618758159618758159618758-
NM_004453.4(ETFDH):c.881C>G (p.Thr294Ser)2110ETFDHUncertain significance748958949RCV001296010|RCV001830131; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|4159618760159618760159618760-
NM_004453.4(ETFDH):c.882T>C (p.Thr294=)2110ETFDHLikely benign770579929RCV000941613; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596187611596187614:g.159618761T>C-
NM_004453.4(ETFDH):c.887G>A (p.Gly296Asp)2110ETFDHUncertain significance-1RCV002304941; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159618766159618766159618766-
NM_004453.4(ETFDH):c.888T>C (p.Gly296=)2110ETFDHLikely benign1174948040RCV000600458|RCV001457898; NMedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596187671596187674:g.159618767T>CClinGen:CA442138331CN169374 not specified;
NM_004453.4(ETFDH):c.892C>T (p.Pro298Ser)2110ETFDHPathogenic1774344831RCV001035118; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596187711596187714:g.159618771C>T-
NM_004453.4(ETFDH):c.897G>A (p.Leu299=)2110ETFDHLikely benign-1RCV002786581; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159618776159618776-
NM_004453.4(ETFDH):c.906T>C (p.His302=)2110ETFDHLikely benign2150311696RCV002128998; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159618785159618785159618785-
NM_004453.4(ETFDH):c.912T>C (p.Tyr304=)2110ETFDHLikely benign2150311706RCV002199547; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159618791159618791159618791-
NM_004453.4(ETFDH):c.920C>T (p.Ser307Phe)2110ETFDHLikely pathogenic769047475RCV001698889; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159618799159618799159618799-
NM_004453.4(ETFDH):c.920C>G (p.Ser307Cys)2110ETFDHLikely pathogenic-1RCV003476364; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159618799159618799-
NM_004453.4(ETFDH):c.922T>G (p.Phe308Val)2110ETFDHUncertain significance1218671512RCV000816185; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596188011596188014:g.159618801T>G-
NM_004453.4(ETFDH):c.924C>T (p.Phe308=)2110ETFDHLikely benign1261212490RCV002090022; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159618803159618803159618803-
NM_004453.4(ETFDH):c.927C>G (p.Leu309=)2110ETFDHLikely benign-1RCV002700298; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159618806159618806-
NM_004453.4(ETFDH):c.933T>C (p.His311=)2110ETFDHLikely benign2150311727RCV002112529; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159618812159618812159618812-
NM_004453.4(ETFDH):c.934T>G (p.Leu312Val)2110ETFDHUncertain significance-1RCV002622461; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159618813159618813NC_000004.11:g.159618813T>G-
NM_004453.4(ETFDH):c.937A>G (p.Asn313Asp)2110ETFDHUncertain significance762031780RCV001967974; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159618816159618816159618816-
NM_004453.4(ETFDH):c.939T>C (p.Asn313=)2110ETFDHLikely benign2150311730RCV001416933; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159618818159618818159618818-
NM_004453.4(ETFDH):c.940G>C (p.Glu314Gln)2110ETFDHUncertain significance201579588RCV001889729; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159618819159618819159618819-
NM_004453.4(ETFDH):c.940G>A (p.Glu314Lys)2110ETFDHUncertain significance-1RCV003112264; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159618819159618819NC_000004.11:g.159618819G>A-
NM_004453.4(ETFDH):c.942A>G (p.Glu314=)2110ETFDHLikely benign-1RCV003008075; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159618821159618821-
NM_004453.4(ETFDH):c.948A>G (p.Glu316=)2110ETFDHUncertain significance1774347347RCV001347386; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159618827159618827159618827-
NM_004453.4(ETFDH):c.950C>T (p.Pro317Leu)2110ETFDHUncertain significance1394204740RCV001297627; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159618829159618829159618829-
NM_004453.4(ETFDH):c.952C>T (p.Leu318=)2110ETFDHLikely benign763002171RCV001451476; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159618831159618831159618831-
NM_004453.4(ETFDH):c.952C>A (p.Leu318Ile)2110ETFDHUncertain significance763002171RCV001943841; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159618831159618831159618831-
NM_004453.4(ETFDH):c.954A>G (p.Leu318=)2110ETFDHLikely benign-1RCV002595810; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159618833159618833-
NM_004453.4(ETFDH):c.962T>C (p.Leu321Pro)2110ETFDHUncertain significance1464356117RCV000691018; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159618841159618841NC_000004.11:g.159618841T>C-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.4(ETFDH):c.966T>C (p.Gly322=)2110ETFDHLikely benign2150311745RCV002187194; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159618845159618845159618845-
NM_004453.4(ETFDH):c.969T>G (p.Leu323=)2110ETFDHLikely benign753462513RCV001502165; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159618848159618848159618848-
NM_004453.4(ETFDH):c.970G>C (p.Val324Leu)2110ETFDHUncertain significance1774348680RCV001219118; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596188491596188494:g.159618849G>C-
NM_004453.4(ETFDH):c.972+1del2110ETFDHPathogenic/Likely pathogenic-1RCV002913618; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159618851159618851NC_000004.11:g.159618852del-
NM_004453.4(ETFDH):c.972+7T>A2110ETFDHLikely benign1580414056RCV000981123; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596188581596188584:g.159618858T>A-
NM_004453.4(ETFDH):c.972+8A>G2110ETFDHLikely benign778686663RCV002134538; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159618859159618859159618859-
NM_004453.4(ETFDH):c.972+10A>G2110ETFDHLikely benign745409764RCV002216918; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159618861159618861159618861-
NM_004453.4(ETFDH):c.972+13C>T2110ETFDHConflicting interpretations of pathogenicity199589412RCV001149623; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596188641596188644:g.159618864C>T-
NM_004453.4(ETFDH):c.972+16A>T2110ETFDHLikely benign-1RCV002596162; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159618867159618867NC_000004.11:g.159618867A>T-
NM_004453.4(ETFDH):c.973-104A>C2110ETFDHBenign7679753RCV001527526|RCV001712955; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C36619004159620035159620035159620035-
NM_004453.4(ETFDH):c.973-13G>A2110ETFDHLikely benign-1RCV003076088; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159620126159620126NC_000004.11:g.159620126G>A-
NM_004453.4(ETFDH):c.973-2A>G2110ETFDHLikely pathogenic2150312193RCV001376776; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159620137159620137159620137-
NM_004453.4(ETFDH):c.973-1G>A2110ETFDHLikely pathogenic1580415323RCV000811062; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596201381596201384:g.159620138G>A-
NM_004453.4(ETFDH):c.975T>C (p.Val325=)2110ETFDHLikely benign2150312198RCV002207660; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159620141159620141159620141-
NM_004453.4(ETFDH):c.981A>G (p.Leu327=)2110ETFDHLikely benign2150312206RCV001395207; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159620147159620147159620147-
NM_004453.4(ETFDH):c.983A>G (p.Asp328Gly)2110ETFDHUncertain significance-1RCV002625093; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159620149159620149NC_000004.11:g.159620149A>G-
NM_004453.4(ETFDH):c.992A>T (p.Asn331Ile)2110ETFDHConflicting interpretations of pathogenicity2150312216RCV001935533|RCV003323953; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN1693744159620158159620158159620158-
NM_004453.4(ETFDH):c.995C>T (p.Pro332Leu)2110ETFDHUncertain significance-1RCV002730335; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159620161159620161NC_000004.11:g.159620161C>T-
NM_004453.4(ETFDH):c.996A>G (p.Pro332=)2110ETFDHLikely benign566071326RCV001490549; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596201621596201624:g.159620162A>G-
NM_004453.4(ETFDH):c.998A>G (p.Tyr333Cys)2110ETFDHLikely pathogenic-1RCV003476372; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159620164159620164-
NM_004453.4(ETFDH):c.999C>A (p.Tyr333Ter)2110ETFDHPathogenic2150312228RCV001901387; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159620165159620165159620165-
NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro)2110ETFDHPathogenic/Likely pathogenic377686388RCV000180601|RCV000723385|RCV001826924; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900|41596201671596201674:g.159620167T>CClinGen:CA346892,UniProtKB:Q16134#VAR_075451C0268596 231680 Glutaric aciduria, type 2;
NM_004453.4(ETFDH):c.1001T>G (p.Leu334Arg)2110ETFDHLikely pathogenic377686388RCV002012925; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159620167159620167159620167-
NM_004453.4(ETFDH):c.1002G>C (p.Leu334=)2110ETFDHLikely benign1476673975RCV002090470; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159620168159620168159620168-
NM_004453.4(ETFDH):c.1004G>C (p.Ser335Thr)2110ETFDHUncertain significance770140708RCV001145311; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596201701596201704:g.159620170G>C-
NM_004453.4(ETFDH):c.1005T>G (p.Ser335Arg)2110ETFDHUncertain significance1452265763RCV001233837|RCV001836189; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|41596201711596201714:g.159620171T>G-
NM_004453.4(ETFDH):c.1011del (p.Phe337fs)2110ETFDHPathogenic/Likely pathogenic757063739RCV001928034; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159620175159620175159620174-
NM_004453.4(ETFDH):c.1019del (p.Phe340fs)2110ETFDHLikely pathogenic-1RCV003476377; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159620184159620184-
NM_004453.4(ETFDH):c.1019T>A (p.Phe340Tyr)2110ETFDHConflicting interpretations of pathogenicity1131691336RCV000493889|RCV001856959|RCV002282174; NMedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN16937441596201851596201854:g.159620185T>AClinGen:CA358562056CN517202 not provided;
NM_004453.4(ETFDH):c.1026G>A (p.Arg342=)2110ETFDHLikely benign-1RCV002947317; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159620192159620192-
NM_004453.4(ETFDH):c.1031_1034del (p.Lys344fs)2110ETFDHLikely pathogenic-1RCV003460029; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159620196159620199-
NM_004453.4(ETFDH):c.1036C>T (p.His346Tyr)2110ETFDHUncertain significance749456492RCV001887507; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159620202159620202159620202-
NM_004453.4(ETFDH):c.1037A>G (p.His346Arg)2110ETFDHUncertain significance-1RCV002651859; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159620203159620203NC_000004.11:g.159620203A>G-
NM_004453.4(ETFDH):c.1048C>T (p.Arg350Trp)2110ETFDHLikely benign375172942RCV000524621; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596202141596202144:g.159620214C>TClinGen:CA3122540C0268596 231680 Glutaric aciduria, type 2;
NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln)2110ETFDHConflicting interpretations of pathogenicity139306043RCV000879649|RCV001731970; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C366190041596202151596202154:g.159620215G>A-
NM_004453.4(ETFDH):c.1050G>A (p.Arg350=)2110ETFDHLikely benign-1RCV002604150; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159620216159620216-
NM_004453.4(ETFDH):c.1054A>G (p.Thr352Ala)2110ETFDHUncertain significance-1RCV002623852; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159620220159620220NC_000004.11:g.159620220A>G-
NM_004453.4(ETFDH):c.1055C>A (p.Thr352Asn)2110ETFDHUncertain significance2150312268RCV002025480; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159620221159620221159620221-
NM_004453.4(ETFDH):c.1056C>T (p.Thr352=)2110ETFDHLikely benign2150312272RCV002191128; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159620222159620222159620222-
NM_004453.4(ETFDH):c.1061A>C (p.Glu354Ala)2110ETFDHUncertain significance2150312279RCV001993763; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159620227159620227159620227-
NM_004453.4(ETFDH):c.1062del (p.Gly355fs)2110ETFDHPathogenic2150312280RCV001951856; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159620227159620227159620226-
NM_004453.4(ETFDH):c.1066G>A (p.Gly356Arg)2110ETFDHLikely pathogenic2150312288RCV001995782; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159620232159620232159620232-
NM_004453.4(ETFDH):c.1073G>A (p.Arg358Lys)2110ETFDHPathogenic/Likely pathogenic796051959RCV000185897|RCV002478652; NMedGen:CN517202|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596202391596202394:g.159620239G>AClinGen:CA312539CN517202 not provided;
NM_004453.4(ETFDH):c.1074G>C (p.Arg358Ser)2110ETFDHPathogenic/Likely pathogenic-1RCV002283899; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159620240159620240159620240-
NM_004453.4(ETFDH):c.1079C>T (p.Ala360Val)2110ETFDHConflicting interpretations of pathogenicity776428695RCV000185898|RCV002282017|RCV002516968; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159620245159620245NC_000004.11:g.159620245C>TClinGen:CA312541CN517202 not provided;
NM_004453.4(ETFDH):c.1080A>G (p.Ala360=)2110ETFDHBenign/Likely benign150020458RCV000124919|RCV000903097; NMedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596202461596202464:g.159620246A>GClinGen:CA290772CN169374 not specified;
NM_004453.4(ETFDH):c.1082A>G (p.Tyr361Cys)2110ETFDHPathogenic/Likely pathogenic2150312299RCV001989535; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159620248159620248159620248-
NM_004453.4(ETFDH):c.1083C>T (p.Tyr361=)2110ETFDHLikely benign765063539RCV001465861|RCV001832607; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|4159620249159620249159620249-
NM_004453.4(ETFDH):c.1084G>A (p.Gly362Arg)2110ETFDHLikely pathogenic369711837RCV000539322|RCV001829570|RCV003419931; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791||41596202501596202504:g.159620250G>AClinGen:CA3122544C0268596 231680 Glutaric aciduria, type 2;
NM_004453.4(ETFDH):c.1089C>T (p.Ala363=)2110ETFDHLikely benign1774391973RCV002157413; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159620255159620255159620255-
NM_004453.4(ETFDH):c.1093G>T (p.Ala365Ser)2110ETFDHUncertain significance-1RCV002646242; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159620259159620259NC_000004.11:g.159620259G>T-
NM_004453.4(ETFDH):c.1095T>C (p.Ala365=)2110ETFDHLikely benign1774392244RCV001447770; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159620261159620261159620261-
NM_004453.4(ETFDH):c.1098C>T (p.Leu366=)2110ETFDHLikely benign1245353864RCV002219554; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159620264159620264159620264-
NM_004453.4(ETFDH):c.1099A>G (p.Asn367Asp)2110ETFDHLikely pathogenic2150312312RCV002000660; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159620265159620265159620265-
NM_004453.4(ETFDH):c.1106G>C (p.Gly369Ala)2110ETFDHConflicting interpretations of pathogenicity754418186RCV000987489|RCV002222651; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN16937441596202721596202724:g.159620272G>C-
NM_004453.4(ETFDH):c.1107T>C (p.Gly369=)2110ETFDHLikely benign781782240RCV001415950; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159620273159620273159620273-
NM_004453.4(ETFDH):c.1108G>A (p.Gly370Ser)2110ETFDHUncertain significance1774393063RCV001232134; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596202741596202744:g.159620274G>A-
NM_004453.4(ETFDH):c.1116G>C (p.Gln372His)2110ETFDHUncertain significance-1RCV002903254; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159620282159620282NC_000004.11:g.159620282G>C-
NM_004453.4(ETFDH):c.1116+2T>C2110ETFDHUncertain significance1561247874RCV000778726; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159620284159620284NC_000004.11:g.159620284T>C-
NM_004453.4(ETFDH):c.1116+6T>C2110ETFDHUncertain significance1561247878RCV001279052; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596202881596202884:g.159620288T>C-
NM_004453.4(ETFDH):c.1116+7C>T2110ETFDHConflicting interpretations of pathogenicity748640706RCV000301497; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159620289159620289NC_000004.11:g.159620289C>TClinGen:CA3122550C0268596 231680 Glutaric aciduria, type 2;
NM_004453.4(ETFDH):c.1116+10C>T2110ETFDHLikely benign1417738324RCV001457570; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159620292159620292159620292-
NM_004453.4(ETFDH):c.1116+13A>G2110ETFDHLikely benign-1RCV003081262; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159620295159620295NC_000004.11:g.159620295A>G-
NM_004453.4(ETFDH):c.1117-11T>C2110ETFDHConflicting interpretations of pathogenicity917132143RCV001145312; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596245641596245644:g.159624564T>C-
NM_004453.4(ETFDH):c.1117-4T>C2110ETFDHLikely benign940742984RCV001486364; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159624571159624571159624571-
NM_004453.4(ETFDH):c.1117-2A>G2110ETFDHPathogenic/Likely pathogenic-1RCV003079056; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159624573159624573NC_000004.11:g.159624573A>G-
NM_004453.4(ETFDH):c.1117-1G>A2110ETFDHLikely pathogenic1774518252RCV001040654; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596245741596245744:g.159624574G>A-
NM_004453.4(ETFDH):c.1117T>C (p.Ser373Pro)2110ETFDHUncertain significance1774518301RCV001067774; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596245751596245754:g.159624575T>C-
NM_004453.4(ETFDH):c.1118C>T (p.Ser373Phe)2110ETFDHUncertain significance1774518388RCV001045770|RCV001273691; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|41596245761596245764:g.159624576C>T-
NM_004453.4(ETFDH):c.1120A>G (p.Ile374Val)2110ETFDHUncertain significance-1RCV002632487; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159624578159624578NC_000004.11:g.159624578A>G-
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro)2110ETFDHPathogenic/Likely pathogenic387907170RCV000024305|RCV000210651|RCV000578325|RCV001814011|RCV001831605; NMedGen:C4016438|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900|41596245881596245884:g.159624588T>CClinGen:CA129834,UniProtKB:Q16134#VAR_075453,OMIM:231675.0007C4016438 Glutaric acidemia iic, late-onset;
NM_004453.4(ETFDH):c.1134del (p.Pro380fs)2110ETFDHPathogenic/Likely pathogenic1369800014RCV001388893; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159624591159624591159624590-
NM_004453.4(ETFDH):c.1136_1140del (p.Phe379fs)2110ETFDHPathogenic/Likely pathogenic2126309189RCV001383328; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159624591159624595159624590-
NM_004453.4(ETFDH):c.1140T>G (p.Pro380=)2110ETFDHLikely benign2126309197RCV001435755; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159624598159624598159624598-
NM_004453.4(ETFDH):c.1141G>C (p.Gly381Arg)2110ETFDHPathogenic1466787789RCV000625637; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596245991596245994:g.159624599G>CClinGen:CA358562756C0268596 231680 Glutaric aciduria, type 2;
NM_004453.4(ETFDH):c.1142G>A (p.Gly381Asp)2110ETFDHLikely pathogenic-1RCV002603372; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159624600159624600NC_000004.11:g.159624600G>A-
NM_004453.4(ETFDH):c.1144G>A (p.Gly382Ser)2110ETFDHUncertain significance2126309213RCV001964794; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159624602159624602159624602-
NM_004453.4(ETFDH):c.1144G>T (p.Gly382Cys)2110ETFDHUncertain significance-1RCV003023201; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159624602159624602NC_000004.11:g.159624602G>T-
NM_004453.4(ETFDH):c.1155T>C (p.Ile385=)2110ETFDHLikely benign2126309228RCV001500876; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159624613159624613159624613-
NM_004453.4(ETFDH):c.1166del (p.Pro389fs)2110ETFDHLikely pathogenic-1RCV003476367; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159624623159624623-
NM_004453.4(ETFDH):c.1169del (p.Gly390fs)2110ETFDHPathogenic1774519872RCV001047294; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596246261596246264:g.159624626_159624626del-
NM_004453.4(ETFDH):c.1175T>C (p.Met392Thr)2110ETFDHUncertain significance1774520171RCV001563959; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159624633159624633159624633-
NM_004453.4(ETFDH):c.1178A>G (p.Asn393Ser)2110ETFDHUncertain significance-1RCV002604067; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159624636159624636NC_000004.11:g.159624636A>G-
NM_004453.4(ETFDH):c.1182T>G (p.Val394=)2110ETFDHLikely benign1230662616RCV001439880; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159624640159624640159624640-
NM_004453.4(ETFDH):c.1197T>G (p.Gly399=)2110ETFDHLikely benign2126309283RCV001484403; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159624655159624655159624655-
NM_004453.4(ETFDH):c.1209A>C (p.Ala403=)2110ETFDHLikely benign1198347315RCV002086356; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159624667159624667159624667-
NM_004453.4(ETFDH):c.1210A>C (p.Met404Leu)2110ETFDHLikely pathogenic-1RCV003043185; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159624668159624668NC_000004.11:g.159624668A>C-
NM_004453.4(ETFDH):c.1211T>C (p.Met404Thr)2110ETFDHPathogenic/Likely pathogenic779253471RCV000799942; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596246691596246694:g.159624669T>C-
NM_004453.4(ETFDH):c.1227A>C (p.Leu409Phe)2110ETFDHPathogenic1200031596RCV001380775|RCV001831378; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|4159624685159624685159624685-
NM_004453.4(ETFDH):c.1233A>C (p.Ala411=)2110ETFDHLikely benign772194053RCV001972579; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159624691159624691159624691-
NM_004453.4(ETFDH):c.1234G>T (p.Glu412Ter)2110ETFDHPathogenic/Likely pathogenic398124151RCV000081076|RCV000173803; NMedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596246921596246924:g.159624692G>TClinGen:CA222708C0268596 231680 Glutaric aciduria, type 2;
NM_004453.4(ETFDH):c.1245dup (p.Asn416Ter)2110ETFDHLikely pathogenic-1RCV003476397; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159624698159624699-
NM_004453.4(ETFDH):c.1244T>C (p.Phe415Ser)2110ETFDHUncertain significance-1RCV003095440; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159624702159624702NC_000004.11:g.159624702T>C-
NM_004453.4(ETFDH):c.1255_1258del (p.Thr419fs)2110ETFDHPathogenic/Likely pathogenic1480647123RCV001553623; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159624708159624711159624707-
NM_004453.4(ETFDH):c.1252C>T (p.Leu418=)2110ETFDHLikely benign769904185RCV001442925; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159624710159624710159624710-
NM_004453.4(ETFDH):c.1255A>T (p.Thr419Ser)2110ETFDHUncertain significance574791445RCV001363757|RCV001831244; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|4159624713159624713159624713-
NM_004453.4(ETFDH):c.1256C>T (p.Thr419Ile)2110ETFDHUncertain significance-1RCV002824782; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159624714159624714NC_000004.11:g.159624714C>T-
NM_004453.4(ETFDH):c.1269C>G (p.Leu423=)2110ETFDHLikely benign-1RCV002584042; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159624727159624727-
NM_004453.4(ETFDH):c.1274C>G (p.Ser425Ter)2110ETFDHLikely pathogenic-1RCV003476366; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159624732159624732-
NM_004453.4(ETFDH):c.1276A>T (p.Lys426Ter)2110ETFDHPathogenic-1RCV002801684; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159624734159624734NC_000004.11:g.159624734A>T-
NM_004453.4(ETFDH):c.1277A>G (p.Lys426Arg)2110ETFDHUncertain significance200611086RCV001279053|RCV002537827; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C095012341596247351596247354:g.159624735A>G-
NM_004453.4(ETFDH):c.1278G>A (p.Lys426=)2110ETFDHLikely benign1284823413RCV001279054; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596247361596247364:g.159624736G>A-
NM_004453.4(ETFDH):c.1281_1282del (p.Ile428fs)2110ETFDHPathogenic-1RCV002651860; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159624739159624740NC_000004.11:g.159624739_159624740del-
NM_004453.4(ETFDH):c.1285G>C (p.Gly429Arg)2110ETFDHUncertain significance-1RCV002651861; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159624743159624743NC_000004.11:g.159624743G>C-
NM_004453.4(ETFDH):c.1285+1G>A2110ETFDHLikely pathogenic767046886RCV000634893|RCV001835015; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|41596247441596247444:g.159624744G>AClinGen:CA3122581C0268596 231680 Glutaric aciduria, type 2;
NM_004453.4(ETFDH):c.1285+2T>G2110ETFDHPathogenic2126309523RCV001385003; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159624745159624745159624745-
NM_004453.4(ETFDH):c.1285+17T>C2110ETFDHLikely benign-1RCV003114857; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159624760159624760NC_000004.11:g.159624760T>C-
NM_004453.4(ETFDH):c.1286-16A>G2110ETFDHLikely benign1163678059RCV002177717; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627325159627325159627325-
NM_004453.4(ETFDH):c.1286-15T>A2110ETFDHUncertain significance1248795834RCV001890509; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627326159627326159627326-
NM_004453.4(ETFDH):c.1286-15T>C2110ETFDHLikely benign-1RCV002857890; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627326159627326NC_000004.11:g.159627326T>C-
NM_004453.4(ETFDH):c.1286-13T>C2110ETFDHUncertain significance-1RCV002626014; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627328159627328NC_000004.11:g.159627328T>C-
NM_004453.4(ETFDH):c.1286-12T>C2110ETFDHLikely benign-1RCV002647711; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627329159627329NC_000004.11:g.159627329T>C-
NM_004453.4(ETFDH):c.1286-10T>C2110ETFDHLikely benign2126314578RCV001410531; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627331159627331159627331-
NM_004453.4(ETFDH):c.1286-8A>T2110ETFDHLikely benign1054882235RCV000884504; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596273331596273334:g.159627333A>T-
NM_004453.4(ETFDH):c.1290C>G (p.Leu430=)2110ETFDHLikely benign770765347RCV001469954; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627345159627345159627345-
NM_004453.4(ETFDH):c.1293T>C (p.His431=)2110ETFDHLikely benign745559526RCV002099220; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627348159627348159627348-
NM_004453.4(ETFDH):c.1309G>A (p.Asp437Asn)2110ETFDHUncertain significance-1RCV002885704; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627364159627364NC_000004.11:g.159627364G>A-
NM_004453.4(ETFDH):c.1315T>C (p.Leu439=)2110ETFDHLikely benign1580422521RCV001490631; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596273701596273704:g.159627370T>C-
NM_004453.4(ETFDH):c.1323C>T (p.Asn441=)2110ETFDHLikely benign1580422538RCV002106437; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627378159627378159627378-
NM_004453.4(ETFDH):c.1324T>A (p.Ser442Thr)2110ETFDHUncertain significance1255214567RCV001279055; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596273791596273794:g.159627379T>A-
NM_004453.4(ETFDH):c.1326A>T (p.Ser442=)2110ETFDHLikely benign1188056766RCV002080023; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627381159627381159627381-
NM_004453.4(ETFDH):c.1331T>C (p.Val444Ala)2110ETFDHUncertain significance760234838RCV001944614; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627386159627386159627386-
NM_004453.4(ETFDH):c.1333T>C (p.Trp445Arg)2110ETFDHConflicting interpretations of pathogenicity1156517377RCV001362371|RCV001831229|RCV002469380; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791||MedGen:CN1693744159627388159627388159627388-
NM_004453.4(ETFDH):c.1334G>T (p.Trp445Leu)2110ETFDHUncertain significance763536356RCV001052816|RCV001832485|RCV001547531; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791||MedGen:CN51720241596273891596273894:g.159627389G>T-
NM_004453.4(ETFDH):c.1335G>C (p.Trp445Cys)2110ETFDHLikely pathogenic-1RCV002828184; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627390159627390NC_000004.11:g.159627390G>C-
NM_004453.4(ETFDH):c.1336A>C (p.Lys446Gln)2110ETFDHUncertain significance1431935282RCV001299703|RCV001830164; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|4159627391159627391159627391-
NM_004453.4(ETFDH):c.1339G>T (p.Glu447Ter)2110ETFDHPathogenic2126314844RCV001914838; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627394159627394159627394-
NM_004453.4(ETFDH):c.1344A>G (p.Leu448=)2110ETFDHLikely benign765652548RCV001429674|RCV003438609; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C366190041596273991596273994:g.159627399A>G-
NM_004453.4(ETFDH):c.1345T>C (p.Tyr449His)2110ETFDHUncertain significance750799644RCV001279056; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596274001596274004:g.159627400T>C-
NM_004453.4(ETFDH):c.1351G>C (p.Val451Leu)2110ETFDHPathogenic558005496RCV001053110; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596274061596274064:g.159627406G>C-
NM_004453.4(ETFDH):c.1354A>G (p.Arg452Gly)2110ETFDHLikely pathogenic1580422659RCV001971135; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627409159627409159627409-
NM_004453.4(ETFDH):c.1360A>G (p.Ile454Val)2110ETFDHUncertain significance766776740RCV001322087|RCV001836309; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|4159627415159627415159627415-
NM_004453.4(ETFDH):c.1360A>T (p.Ile454Leu)2110ETFDHUncertain significance766776740RCV001563960; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627415159627415159627415-
NM_004453.4(ETFDH):c.1361dup (p.Arg455fs)2110ETFDHLikely pathogenic-1RCV003467946; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627415159627416-
NM_004453.4(ETFDH):c.1361T>C (p.Ile454Thr)2110ETFDHConflicting interpretations of pathogenicity2126314946RCV001564973|RCV002573190; NMedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627416159627416159627416-
NM_004453.4(ETFDH):c.1365A>G (p.Arg455=)2110ETFDHLikely benign1580422667RCV001443356; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627420159627420159627420-
NM_004453.4(ETFDH):c.1366C>T (p.Pro456Ser)2110ETFDHPathogenic/Likely pathogenic751821289RCV000415983|RCV000763116; NMedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596274211596274214:g.159627421C>TClinGen:CA3122610CN517202 not provided;
NM_004453.4(ETFDH):c.1366C>G (p.Pro456Ala)2110ETFDHLikely pathogenic751821289RCV001999050; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627421159627421159627421-
NM_004453.4(ETFDH):c.1367C>T (p.Pro456Leu)2110ETFDHPathogenic398124152RCV000081077|RCV000174102; NMedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596274221596274224:g.159627422C>TClinVar:424776,ClinGen:CA285628,UniProtKB:Q16134#VAR_075455C0268596 231680 Glutaric aciduria, type 2;
NM_004453.4(ETFDH):c.1368G>A (p.Pro456=)2110ETFDHLikely benign781354386RCV001399511; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627423159627423159627423-
NM_004453.4(ETFDH):c.1369T>C (p.Ser457Pro)2110ETFDHUncertain significance1404615636RCV001344588; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627424159627424159627424-
NM_004453.4(ETFDH):c.1371C>G (p.Ser457=)2110ETFDHLikely benign749280294RCV001468554; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627426159627426159627426-
NM_004453.4(ETFDH):c.1374C>A (p.Cys458Ter)2110ETFDHPathogenic1580422708RCV000806807; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596274291596274294:g.159627429C>A-
NM_004453.4(ETFDH):c.1375del (p.His459fs)2110ETFDHPathogenic1774610957RCV001204189; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596274291596274294:g.159627429_159627429del-
NM_004453.4(ETFDH):c.1375C>T (p.His459Tyr)2110ETFDHConflicting interpretations of pathogenicity200111698RCV000185900|RCV000660476; NMedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627430159627430NC_000004.11:g.159627430C>TClinGen:CA312545C0268596 231680 Glutaric aciduria, type 2;
NM_004453.4(ETFDH):c.1377C>T (p.His459=)2110ETFDHLikely benign1243627865RCV001414570; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627432159627432159627432-
NM_004453.4(ETFDH):c.1378G>A (p.Gly460Arg)2110ETFDHUncertain significance989125087RCV001279057; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596274331596274334:g.159627433G>A-
NM_004453.4(ETFDH):c.1378G>T (p.Gly460Ter)2110ETFDHPathogenic989125087RCV001993214; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627433159627433159627433-
NM_004453.4(ETFDH):c.1384C>G (p.Leu462Val)2110ETFDHUncertain significance-1RCV002664351; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627439159627439NC_000004.11:g.159627439C>G-
NM_004453.4(ETFDH):c.1388G>A (p.Gly463Asp)2110ETFDHConflicting interpretations of pathogenicity1561251388RCV000723006|RCV000987490; NMedGen:CN517202|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627443159627443NC_000004.11:g.159627443G>A-
NM_004453.4(ETFDH):c.1389T>A (p.Gly463=)2110ETFDHLikely benign-1RCV003034718; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627444159627444-
NM_004453.4(ETFDH):c.1395T>G (p.Tyr465Ter)2110ETFDHPathogenic745714733RCV001946884; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627450159627450159627450-
NM_004453.4(ETFDH):c.1397G>A (p.Gly466Glu)2110ETFDHUncertain significance1774612717RCV001058151; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596274521596274524:g.159627452G>A-
NM_004453.4(ETFDH):c.1398A>G (p.Gly466=)2110ETFDHLikely benign1400986353RCV001404786; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627453159627453159627453-
NM_004453.4(ETFDH):c.1399G>C (p.Gly467Arg)2110ETFDHPathogenic1174882036RCV001069265; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596274541596274544:g.159627454G>C-
NM_004453.4(ETFDH):c.1400G>A (p.Gly467Glu)2110ETFDHLikely pathogenic-1RCV002750721; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627455159627455NC_000004.11:g.159627455G>A-
NM_004453.4(ETFDH):c.1401G>T (p.Gly467=)2110ETFDHUncertain significance1774613217RCV001342748; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627456159627456159627456-
NM_004453.4(ETFDH):c.1414G>A (p.Gly472Arg)2110ETFDHConflicting interpretations of pathogenicity746598421RCV000554634|RCV001834766; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|41596274691596274694:g.159627469G>AClinGen:CA3122617C0268596 231680 Glutaric aciduria, type 2;
NM_004453.4(ETFDH):c.1415G>C (p.Gly472Ala)2110ETFDHLikely pathogenic768181815RCV001379882; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627470159627470159627470-
NM_004453.4(ETFDH):c.1417dup (p.Ile473fs)2110ETFDHLikely pathogenic-1RCV003476386; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627470159627471-
NM_004453.4(ETFDH):c.1416A>T (p.Gly472=)2110ETFDHLikely benign-1RCV003034796; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627471159627471-
NM_004453.4(ETFDH):c.1431A>G (p.Ile477Met)2110ETFDHUncertain significance2126315307RCV001971822; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627486159627486159627486-
NM_004453.4(ETFDH):c.1432T>C (p.Leu478=)2110ETFDHLikely benign1774615019RCV002201025; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627487159627487159627487-
NM_004453.4(ETFDH):c.1433del (p.Ile477_Leu478insTer)2110ETFDHPathogenic/Likely pathogenic-1RCV002582381; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627487159627487NC_000004.11:g.159627488del-
NM_004453.4(ETFDH):c.1433T>A (p.Leu478Ter)2110ETFDHPathogenic2126315337RCV002035300; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627488159627488159627488-
NM_004453.4(ETFDH):c.1436G>C (p.Arg479Thr)2110ETFDHUncertain significance1774615246RCV001244807; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596274911596274914:g.159627491G>C-
NM_004453.4(ETFDH):c.1444G>A (p.Glu482Lys)2110ETFDHUncertain significance1774615624RCV001240138; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596274991596274994:g.159627499G>A-
NM_004453.4(ETFDH):c.1447_1454del (p.Pro483fs)2110ETFDHLikely pathogenic-1RCV003476376; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627502159627509-
NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu)2110ETFDHPathogenic/Likely pathogenic377656387RCV000024306|RCV000634896|RCV001250164|RCV001831606|RCV002054473; NMedGen:C4016438|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|||MedGen:C366190041596275031596275034:g.159627503C>TClinGen:CA129836,UniProtKB:Q16134#VAR_075457,OMIM:231675.0008C4016438 Glutaric acidemia iic, late-onset;
NM_004453.4(ETFDH):c.1449G>T (p.Pro483=)2110ETFDHLikely benign143873407RCV000935736|RCV001545051; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C366190041596275041596275044:g.159627504G>T-
NM_004453.4(ETFDH):c.1449G>A (p.Pro483=)2110ETFDHLikely benign143873407RCV001279058; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596275041596275044:g.159627504G>A-
NM_004453.4(ETFDH):c.1450T>C (p.Trp484Arg)2110ETFDHPathogenic1774616485RCV001050937|RCV001827320; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|41596275051596275054:g.159627505T>C-
NM_004453.4(ETFDH):c.1453A>C (p.Thr485Pro)2110ETFDHUncertain significance1774616683RCV001279059; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596275081596275084:g.159627508A>C-
NM_004453.4(ETFDH):c.1454C>G (p.Thr485Ser)2110ETFDHLikely pathogenic-1RCV003476363; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627509159627509-
NM_004453.4(ETFDH):c.1457dup (p.Lys487fs)2110ETFDHPathogenic-1RCV003476371; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627511159627512-
NM_004453.4(ETFDH):c.1457T>C (p.Leu486Pro)2110ETFDHUncertain significance751839607RCV001956573; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627512159627512159627512-
NM_004453.4(ETFDH):c.1461del (p.Lys487fs)2110ETFDHLikely pathogenic-1RCV003476390; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627514159627514-
NM_004453.4(ETFDH):c.1464_1465del (p.His488fs)2110ETFDHPathogenic2126315444RCV002007423; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627518159627519159627517-
NM_004453.4(ETFDH):c.1465A>G (p.Lys489Glu)2110ETFDHUncertain significance-1RCV002289153; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627520159627520159627520-
NM_004453.4(ETFDH):c.1468+7C>T2110ETFDHLikely benign-1RCV002899511; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627530159627530NC_000004.11:g.159627530C>T-
NM_004453.4(ETFDH):c.1468+8A>G2110ETFDHLikely benign755214741RCV002205961; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627531159627531159627531-
NM_004453.4(ETFDH):c.1468+10A>G2110ETFDHLikely benign144205191RCV000429787|RCV001494808; NMedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596275331596275334:g.159627533A>GClinGen:CA3122628CN169374 not specified;
NM_004453.4(ETFDH):c.1468+10A>T2110ETFDHLikely benign144205191RCV001454223; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627533159627533159627533-
NM_004453.4(ETFDH):c.1468+12_1468+13del2110ETFDHLikely benign769120603RCV002103908; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627535159627536159627534-
NM_004453.4(ETFDH):c.1468+15A>C2110ETFDHBenign146561214RCV000185884|RCV000367855; NMedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596275381596275384:g.159627538A>CClinGen:CA312514C0268596 231680 Glutaric aciduria, type 2;
NM_004453.4(ETFDH):c.1468+16G>A2110ETFDHLikely benign-1RCV003030598; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627539159627539NC_000004.11:g.159627539G>A-
NM_004453.4(ETFDH):c.1469-19T>G2110ETFDHLikely benign2126316001RCV002094641; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627762159627762159627762-
NM_004453.4(ETFDH):c.1469-18C>T2110ETFDHLikely benign-1RCV002735988; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627763159627763NC_000004.11:g.159627763C>T-
NM_004453.4(ETFDH):c.1469-8T>C2110ETFDHLikely benign1774625470RCV001279060; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596277731596277734:g.159627773T>C-
NM_004453.4(ETFDH):c.1469-7G>T2110ETFDHLikely benign-1RCV003040234; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627774159627774NC_000004.11:g.159627774G>T-
NM_004453.4(ETFDH):c.1469-1G>T2110ETFDHLikely pathogenic1561251640RCV000722270|RCV001868918; NMedGen:CN517202|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627780159627780NC_000004.11:g.159627780G>T-
NM_004453.4(ETFDH):c.1471_1473delinsCAAAAGCC (p.Ser491fs)2110ETFDHLikely pathogenic-1RCV003145011; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627783159627785NC_000004.11:g.159627783_159627785delinsCAAAAGCC-
NM_004453.4(ETFDH):c.1472C>T (p.Ser491Phe)2110ETFDHUncertain significance-1RCV002829695; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627784159627784NC_000004.11:g.159627784C>T-
NM_004453.4(ETFDH):c.1479T>C (p.Phe493=)2110ETFDHLikely benign1423401867RCV001478665; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627791159627791159627791-
NM_004453.4(ETFDH):c.1480G>C (p.Glu494Gln)2110ETFDHUncertain significance771456968RCV001704964|RCV002517822|RCV003165419; NMedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C09501234159627792159627792NC_000004.11:g.159627792G>CClinGen:CA312515CN169374 not specified;
NM_004453.4(ETFDH):c.1483C>T (p.Arg495Trp)2110ETFDHUncertain significance774810601RCV001145313|RCV003246722; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C095012341596277951596277954:g.159627795C>T-
NM_004453.4(ETFDH):c.1484G>A (p.Arg495Gln)2110ETFDHUncertain significance-1RCV002663952; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627796159627796NC_000004.11:g.159627796G>A-
NM_004453.4(ETFDH):c.1485G>A (p.Arg495=)2110ETFDHLikely benign-1RCV002851906; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627797159627797-
NM_004453.4(ETFDH):c.1487T>C (p.Leu496Pro)2110ETFDHPathogenic/Likely pathogenic863224869RCV001381020; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627799159627799NC_000004.11:g.159627799T>CClinVar:424776,ClinGen:CA351297C0268596 231680 Glutaric aciduria, type 2;
NM_004453.4(ETFDH):c.1503T>G (p.Asp501Glu)2110ETFDHUncertain significance752947878RCV001806786|RCV001869496; NMedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627815159627815159627815-
NM_004453.4(ETFDH):c.1503T>C (p.Asp501=)2110ETFDHLikely benign752947878RCV002078007; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627815159627815159627815-
NM_004453.4(ETFDH):c.1506C>T (p.Cys502=)2110ETFDHLikely benign1405831535RCV001465190; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627818159627818159627818-
NM_004453.4(ETFDH):c.1512dup (p.Ile505fs)2110ETFDHPathogenic2126316172RCV001912048; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627823159627824159627823-
NM_004453.4(ETFDH):c.1512T>C (p.Pro504=)2110ETFDHLikely benign940960964RCV001430755; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627824159627824159627824-
NM_004453.4(ETFDH):c.1514T>C (p.Ile505Thr)2110ETFDHLikely pathogenic764164607RCV001976471; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627826159627826159627826-
NM_004453.4(ETFDH):c.1518G>A (p.Glu506=)2110ETFDHConflicting interpretations of pathogenicity146882697RCV001145314|RCV001703659; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C366190041596278301596278304:g.159627830G>AClinGen:CA3122652CN169374 not specified;
NM_004453.4(ETFDH):c.1522C>A (p.Pro508Thr)2110ETFDHPathogenic751394068RCV001380776; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627834159627834159627834-
NM_004453.4(ETFDH):c.1530C>T (p.Pro510=)2110ETFDHConflicting interpretations of pathogenicity754795292RCV001147256|RCV001772343; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN51720241596278421596278424:g.159627842C>T-
NM_004453.4(ETFDH):c.1531G>A (p.Asp511Asn)2110ETFDHConflicting interpretations of pathogenicity780768015RCV000174333|RCV000275519; NMedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596278431596278434:g.159627843G>AClinGen:CA239854C0268596 231680 Glutaric aciduria, type 2;
NM_004453.4(ETFDH):c.1533T>C (p.Asp511=)2110ETFDHBenign/Likely benign77484245RCV000124920|RCV000332982|RCV000676847; NMedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C366190041596278451596278454:g.159627845T>CClinGen:CA290774C0268596 231680 Glutaric aciduria, type 2;
NM_004453.4(ETFDH):c.1539G>C (p.Gln513His)2110ETFDHUncertain significance1445646586RCV001881829; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627851159627851159627851-
NM_004453.4(ETFDH):c.1539G>A (p.Gln513=)2110ETFDHLikely benign-1RCV003073558; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627851159627851-
NM_004453.4(ETFDH):c.1541T>C (p.Ile514Thr)2110ETFDHUncertain significance-1RCV002612761; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627853159627853NC_000004.11:g.159627853T>C-
NM_004453.4(ETFDH):c.1542C>T (p.Ile514=)2110ETFDHLikely benign2126316304RCV002201636; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627854159627854159627854-
NM_004453.4(ETFDH):c.1547T>C (p.Phe516Ser)2110ETFDHLikely pathogenic1580423432RCV000987491; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596278591596278594:g.159627859T>C-
NM_004453.4(ETFDH):c.1555T>C (p.Leu519=)2110ETFDHLikely benign533097197RCV000944591; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596278671596278674:g.159627867T>C-
NM_004453.4(ETFDH):c.1555_1556del (p.Leu519fs)2110ETFDHPathogenic/Likely pathogenic1774630121RCV001035116; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596278671596278684:g.159627867_159627868del-
NM_004453.4(ETFDH):c.1557G>A (p.Leu519=)2110ETFDHLikely benign-1RCV003037710; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627869159627869-
NM_004453.4(ETFDH):c.1560A>C (p.Ser520=)2110ETFDHLikely benign566844923RCV000897763|RCV001273692; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|41596278721596278724:g.159627872A>C-
NM_004453.4(ETFDH):c.1560A>T (p.Ser520=)2110ETFDHLikely benign566844923RCV002148390; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627872159627872159627872-
NM_004453.4(ETFDH):c.1560A>G (p.Ser520=)2110ETFDHLikely benign566844923RCV002186514; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627872159627872159627872-
NM_004453.4(ETFDH):c.1570_1571del (p.Leu524fs)2110ETFDHPathogenic/Likely pathogenic727503919RCV001850092|RCV000174332; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN51720241596278801596278814:g.159627880_159627881delClinGen:CA233955C0268596 231680 Glutaric aciduria, type 2;
NM_004453.4(ETFDH):c.1573A>C (p.Ser525Arg)2110ETFDHUncertain significance-1RCV002284040; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627885159627885159627885-
NM_004453.4(ETFDH):c.1581T>G (p.Thr527=)2110ETFDHLikely benign-1RCV002740574; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627893159627893-
NM_004453.4(ETFDH):c.1582A>G (p.Asn528Asp)2110ETFDHUncertain significance-1RCV002720947; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627894159627894NC_000004.11:g.159627894A>G-
NM_004453.4(ETFDH):c.1584T>C (p.Asn528=)2110ETFDHLikely benign2126316485RCV002094057; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627896159627896159627896-
NM_004453.4(ETFDH):c.1586A>G (p.His529Arg)2110ETFDHLikely pathogenic2126316486RCV002013568; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627898159627898159627898-
NM_004453.4(ETFDH):c.1587T>G (p.His529Gln)2110ETFDHLikely pathogenic-1RCV003026766; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627899159627899NC_000004.11:g.159627899T>G-
NM_004453.4(ETFDH):c.1590A>G (p.Glu530=)2110ETFDHBenign/Likely benign143015234RCV000370319|RCV000676848; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C36619004159627902159627902NC_000004.11:g.159627902A>GClinGen:CA3122666C0268596 231680 Glutaric aciduria, type 2;
NM_004453.4(ETFDH):c.1593T>C (p.His531=)2110ETFDHLikely benign2126316550RCV001398592; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627905159627905159627905-
NM_004453.4(ETFDH):c.1596C>T (p.Asp532=)2110ETFDHLikely benign-1RCV002877044; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627908159627908-
NM_004453.4(ETFDH):c.1597C>A (p.Gln533Lys)2110ETFDHUncertain significance2126316568RCV001367066; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627909159627909159627909-
NM_004453.4(ETFDH):c.1601C>T (p.Pro534Leu)2110ETFDHPathogenic/Likely pathogenic200920510RCV000483304|RCV000818859; NMedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627913159627913NC_000004.11:g.159627913C>TClinGen:CA3122669CN517202 not provided;
NM_004453.4(ETFDH):c.1602G>A (p.Pro534=)2110ETFDHBenign/Likely benign142475999RCV000880894|RCV001718825; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C366190041596279141596279144:g.159627914G>AClinGen:CA3122670CN169374 not specified;
NM_004453.4(ETFDH):c.1603G>T (p.Ala535Ser)2110ETFDHUncertain significance748346465RCV001279061; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596279151596279154:g.159627915G>T-
NM_004453.4(ETFDH):c.1607_1608del (p.His536fs)2110ETFDHPathogenic1774633192RCV001050404; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596279161596279174:g.159627916_159627917del-
NM_004453.4(ETFDH):c.1605A>G (p.Ala535=)2110ETFDHLikely benign-1RCV002942254; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627917159627917-
NM_004453.4(ETFDH):c.1613_1618del (p.Thr538_Leu539del)2110ETFDHUncertain significance-1RCV003147133; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627920159627925NC_000004.11:g.159627925_159627930del-
NM_004453.4(ETFDH):c.1615T>G (p.Leu539Val)2110ETFDHUncertain significance-1RCV002786135; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627927159627927NC_000004.11:g.159627927T>G-
NM_004453.4(ETFDH):c.1623T>C (p.Asp541=)2110ETFDHLikely benign1580423557RCV000978261; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596279351596279354:g.159627935T>C-
NM_004453.4(ETFDH):c.1623del (p.Asp541fs)2110ETFDHPathogenic2126316669RCV001385872; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627935159627935159627934-
NM_004453.4(ETFDH):c.1626C>T (p.Asp542=)2110ETFDHLikely benign-1RCV003118818; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627938159627938-
NM_004453.4(ETFDH):c.1627_1628insAT (p.Ser543fs)2110ETFDHPathogenic-1RCV002760181; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627939159627940NC_000004.11:g.159627939_159627940insAT-
NM_004453.4(ETFDH):c.1629dup (p.Ile544fs)2110ETFDHPathogenic2126316699RCV001829273; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627940159627941159627940-
NM_004453.4(ETFDH):c.1628G>A (p.Ser543Asn)2110ETFDHUncertain significance-1RCV002730141; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627940159627940NC_000004.11:g.159627940G>A-
NM_004453.4(ETFDH):c.1629T>C (p.Ser543=)2110ETFDHLikely benign-1RCV003019108; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627941159627941-
NM_004453.4(ETFDH):c.1631dup (p.Pro545fs)2110ETFDHPathogenic/Likely pathogenic771393519RCV001783210; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627942159627943159627942-
NM_004453.4(ETFDH):c.1631T>C (p.Ile544Thr)2110ETFDHUncertain significance-1RCV002654934; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627943159627943NC_000004.11:g.159627943T>C-
NM_004453.4(ETFDH):c.1646del (p.Asn549fs)2110ETFDHLikely pathogenic-1RCV003476374; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627956159627956-
NM_004453.4(ETFDH):c.1648_1649del (p.Leu550fs)2110ETFDHPathogenic1469053638RCV000987492|RCV001827126; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|41596279591596279604:g.159627959_159627960del-
NM_004453.4(ETFDH):c.1650_1651del (p.Ser551fs)2110ETFDHPathogenic2126316783RCV001902412; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627961159627962159627960-
NM_004453.4(ETFDH):c.1650G>A (p.Leu550=)2110ETFDHLikely benign-1RCV003028561; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627962159627962-
NM_004453.4(ETFDH):c.1652C>T (p.Ser551Leu)2110ETFDHUncertain significance772351035RCV001509242|RCV002564278; NMedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627964159627964159627964-
NM_004453.4(ETFDH):c.1652C>A (p.Ser551Ter)2110ETFDHPathogenic/Likely pathogenic-1RCV002471536; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627964159627964NC_000004.11:g.159627964C>A-
NM_004453.4(ETFDH):c.1653G>A (p.Ser551=)2110ETFDHConflicting interpretations of pathogenicity1408118210RCV001147257; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596279651596279654:g.159627965G>A-
NM_004453.4(ETFDH):c.1653G>T (p.Ser551=)2110ETFDHLikely benign1408118210RCV002167386; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627965159627965159627965-
NM_004453.4(ETFDH):c.1654A>C (p.Ile552Leu)2110ETFDHUncertain significance-1RCV002640410; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627966159627966NC_000004.11:g.159627966A>C-
NM_004453.4(ETFDH):c.1658_1659del (p.Ile552_Tyr553insTer)2110ETFDHLikely pathogenic-1RCV003476391; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627966159627967-
NM_004453.4(ETFDH):c.1656dup (p.Tyr553fs)2110ETFDHLikely pathogenic-1RCV003476387; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627967159627968-
NM_004453.4(ETFDH):c.1657T>C (p.Tyr553His)2110ETFDHLikely pathogenic182913453RCV002027116; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627969159627969159627969-
NM_004453.4(ETFDH):c.1659T>C (p.Tyr553=)2110ETFDHLikely benign1333454413RCV002096346; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627971159627971159627971-
NM_004453.4(ETFDH):c.1660G>T (p.Asp554Tyr)2110ETFDHUncertain significance-1RCV002590696; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627972159627972NC_000004.11:g.159627972G>T-
NM_004453.4(ETFDH):c.1662T>C (p.Asp554=)2110ETFDHLikely benign2126316862RCV002079076; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627974159627974159627974-
NM_004453.4(ETFDH):c.1664G>A (p.Gly555Glu)2110ETFDHUncertain significance2126316873RCV001967748; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627976159627976159627976-
NM_004453.4(ETFDH):c.1665G>A (p.Gly555=)2110ETFDHLikely benign1305282556RCV002202167; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627977159627977159627977-
NM_004453.4(ETFDH):c.1666C>T (p.Pro556Ser)2110ETFDHPathogenic2126316885RCV001938288; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627978159627978159627978-
NM_004453.4(ETFDH):c.1668C>T (p.Pro556=)2110ETFDHLikely benign747312700RCV001279062; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596279801596279804:g.159627980C>T-
NM_004453.4(ETFDH):c.1669G>A (p.Glu557Lys)2110ETFDHConflicting interpretations of pathogenicity1279728239RCV001246805|RCV002307709; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN51720241596279811596279814:g.159627981G>A-
NM_004453.4(ETFDH):c.1674G>A (p.Gln558=)2110ETFDHLikely benign2126316924RCV001471703; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627986159627986159627986-
NM_004453.4(ETFDH):c.1675C>T (p.Arg559Ter)2110ETFDHPathogenic-1RCV002664352; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627987159627987NC_000004.11:g.159627987C>T-
NM_004453.4(ETFDH):c.1676G>A (p.Arg559Gln)2110ETFDHUncertain significance768961719RCV001279063; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596279881596279884:g.159627988G>A-
NM_004453.4(ETFDH):c.1678T>C (p.Phe560Leu)2110ETFDHUncertain significance374585539RCV001280237; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596279901596279904:g.159627990T>C-
NM_004453.4(ETFDH):c.1680C>A (p.Phe560Leu)2110ETFDHUncertain significance-1RCV002756120; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159627992159627992NC_000004.11:g.159627992C>A-
NM_004453.4(ETFDH):c.1690+1G>T2110ETFDHPathogenic917285990RCV000634895; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159628003159628003NC_000004.11:g.159628003G>TClinGen:CA108819497C0268596 231680 Glutaric aciduria, type 2;
NM_004453.4(ETFDH):c.1690+2T>G2110ETFDHPathogenic/Likely pathogenic-1RCV002461618|RCV003103104|RCV003408283; NMedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|4159628004159628004NC_000004.11:g.159628004T>G-
NM_004453.4(ETFDH):c.1690+4A>G2110ETFDHUncertain significance752590057RCV001280238; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596280061596280064:g.159628006A>G-
NM_004453.4(ETFDH):c.1690+15C>T2110ETFDHBenign11931339RCV000124921|RCV000268662; NMedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596280171596280174:g.159628017C>TClinGen:CA290776C0268596 231680 Glutaric aciduria, type 2;
NM_004453.4(ETFDH):c.1690+18T>C2110ETFDHLikely benign-1RCV003014250; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159628020159628020NC_000004.11:g.159628020T>C-
NM_004453.4(ETFDH):c.1690+20C>T2110ETFDHLikely benign376588328RCV002146863; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159628022159628022159628022-
NM_004453.4(ETFDH):c.1691-14_1691-9del2110ETFDHLikely benign-1RCV002716469; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159629498159629503NC_000004.11:g.159629502_159629507del-
NM_004453.4(ETFDH):c.1691-8_1691-2dup2110ETFDHLikely benign1326899328RCV002167097; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159629506159629507159629506-
NM_004453.4(ETFDH):c.1691-4T>C2110ETFDHLikely benign-1RCV003057541; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159629512159629512NC_000004.11:g.159629512T>C-
NM_004453.4(ETFDH):c.1691-3C>G2110ETFDHPathogenic-1RCV003476384; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159629513159629513-
NM_004453.4(ETFDH):c.1691-2_1691-1delinsGA2110ETFDHLikely pathogenic-1RCV002870845; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159629514159629515NC_000004.11:g.159629514_159629515delinsGA-
NM_004453.4(ETFDH):c.1692A>T (p.Gly564=)2110ETFDHLikely benign377544087RCV001280239|RCV003326559; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C366190041596295171596295174:g.159629517A>T-
NM_004453.4(ETFDH):c.1698T>C (p.Tyr566=)2110ETFDHLikely benign2126320707RCV002156279; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159629523159629523159629523-
NM_004453.4(ETFDH):c.1699G>T (p.Glu567Ter)2110ETFDHPathogenic1774695889RCV001946803; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159629524159629524159629524-
NM_004453.4(ETFDH):c.1699G>A (p.Glu567Lys)2110ETFDHLikely pathogenic-1RCV003467945; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159629524159629524-
NM_004453.4(ETFDH):c.1705G>T (p.Val569Leu)2110ETFDHUncertain significance-1RCV002938830; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159629530159629530NC_000004.11:g.159629530G>T-
NM_004453.4(ETFDH):c.1711G>C (p.Val571Leu)2110ETFDHUncertain significance-1RCV002941867|RCV003320904; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN5172024159629536159629536NC_000004.11:g.159629536G>C-
NM_004453.4(ETFDH):c.1716A>G (p.Glu572=)2110ETFDHLikely benign2126320794RCV002082289; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159629541159629541159629541-
NM_004453.4(ETFDH):c.1717C>T (p.Gln573Ter)2110ETFDHLikely pathogenic-1RCV003476369; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159629542159629542-
NM_004453.4(ETFDH):c.1720G>A (p.Gly574Ser)2110ETFDHUncertain significance867281765RCV001946067; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159629545159629545159629545-
NM_004453.4(ETFDH):c.1725T>C (p.Asp575=)2110ETFDHLikely benign1774697442RCV002134084; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159629550159629550159629550-
NM_004453.4(ETFDH):c.1726G>A (p.Gly576Arg)2110ETFDHUncertain significance760578708RCV001280240|RCV001356042; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN51720241596295511596295514:g.159629551G>A-
NM_004453.4(ETFDH):c.1732C>T (p.Arg578Trp)2110ETFDHUncertain significance763912783RCV001147258|RCV002298875; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN16937441596295571596295574:g.159629557C>T-
NM_004453.4(ETFDH):c.1733G>A (p.Arg578Gln)2110ETFDHUncertain significance200290334RCV000634894|RCV001562757; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C36619004159629558159629558NC_000004.11:g.159629558G>AClinGen:CA3122710C0268596 231680 Glutaric aciduria, type 2;
NM_004453.4(ETFDH):c.1734G>A (p.Arg578=)2110ETFDHLikely benign761505388RCV001502973; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159629559159629559159629559-
NM_004453.4(ETFDH):c.1739A>G (p.Gln580Arg)2110ETFDHUncertain significance749989069RCV002020626; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159629564159629564159629564-
NM_004453.4(ETFDH):c.1745del (p.Asn582fs)2110ETFDHPathogenic1774698674RCV001333248; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159629568159629568159629567-
NM_004453.4(ETFDH):c.1744A>C (p.Asn582His)2110ETFDHUncertain significance757842479RCV001212496|RCV003159189; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN51720241596295691596295694:g.159629569A>C-
NM_004453.4(ETFDH):c.1750C>G (p.Gln584Glu)2110ETFDHUncertain significance-1RCV003051365; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159629575159629575NC_000004.11:g.159629575C>G-
NM_004453.4(ETFDH):c.1758T>C (p.Cys586=)2110ETFDHLikely benign755342205RCV001280241; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596295831596295834:g.159629583T>C-
NM_004453.4(ETFDH):c.1759G>T (p.Val587Leu)2110ETFDHUncertain significance-1RCV002662501; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159629584159629584NC_000004.11:g.159629584G>T-
NM_004453.4(ETFDH):c.1762C>T (p.His588Tyr)2110ETFDHLikely pathogenic1225042876RCV001988925; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159629587159629587159629587-
NM_004453.4(ETFDH):c.1763A>G (p.His588Arg)2110ETFDHPathogenic781498366RCV001380777; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159629588159629588159629588-
NM_004453.4(ETFDH):c.1764T>C (p.His588=)2110ETFDHLikely benign141180629RCV000933504; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596295891596295894:g.159629589T>C-
NM_004453.4(ETFDH):c.1767T>C (p.Cys589=)2110ETFDHLikely benign1580425819RCV001453444; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596295921596295924:g.159629592T>C-
NM_004453.4(ETFDH):c.1773_1774del (p.Thr591_Cys592insTer)2110ETFDHPathogenic/Likely pathogenic767795266RCV000224798|RCV000543124; NMedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596295981596295994:g.159629598_159629599delClinGen:CA3122720C0268596 231680 Glutaric aciduria, type 2;
NM_004453.4(ETFDH):c.1773A>G (p.Thr591=)2110ETFDHLikely benign-1RCV002622377; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159629598159629598-
NM_004453.4(ETFDH):c.1781_1783dup (p.Ile594dup)2110ETFDHUncertain significance1774700761RCV001217884; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596296031596296044:g.159629603_159629604insTAT-
NM_004453.4(ETFDH):c.1785del (p.Asp596fs)2110ETFDHPathogenic2126321079RCV001377485; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159629608159629608159629607-
NM_004453.4(ETFDH):c.1786G>A (p.Asp596Asn)2110ETFDHLikely pathogenic1165102742RCV001994364; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159629611159629611159629611-
NM_004453.4(ETFDH):c.1793G>A (p.Ser598Asn)2110ETFDHUncertain significance-1RCV003052968; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159629618159629618NC_000004.11:g.159629618G>A-
NM_004453.4(ETFDH):c.1795C>T (p.Gln599Ter)2110ETFDHLikely pathogenic-1RCV003476379; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159629620159629620-
NM_004453.4(ETFDH):c.1798A>C (p.Asn600His)2110ETFDHUncertain significance-1RCV003023267; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159629623159629623NC_000004.11:g.159629623A>C-
NM_004453.4(ETFDH):c.1800T>C (p.Asn600=)2110ETFDHLikely benign2126321129RCV002190170; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159629625159629625159629625-
NM_004453.4(ETFDH):c.1804_1807dup (p.Trp603Ter)2110ETFDHLikely pathogenic1580425904RCV000796466; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596296271596296284:g.159629627_159629628insTAAC-
NM_004453.4(ETFDH):c.1809G>A (p.Trp603Ter)2110ETFDHPathogenic796051960RCV000185901|RCV003474942; NMedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159629634159629634NC_000004.11:g.159629634G>AClinGen:CA312547CN517202 not provided;
NM_004453.4(ETFDH):c.1810G>A (p.Val604Met)2110ETFDHLikely pathogenic1436514087RCV002018369; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159629635159629635159629635-
NM_004453.4(ETFDH):c.1811T>A (p.Val604Glu)2110ETFDHLikely pathogenic2126321188RCV002036726; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159629636159629636159629636-
NM_004453.4(ETFDH):c.1813dup (p.Val605fs)2110ETFDHLikely pathogenic-1RCV002283362; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159629636159629637159629636-
NM_004453.4(ETFDH):c.1812G>A (p.Val604=)2110ETFDHBenign/Likely benign17843967RCV000676849|RCV001083639; NMedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596296371596296374:g.159629637G>AClinGen:CA3122729CN517202 not provided;
NM_004453.4(ETFDH):c.1813G>T (p.Val605Leu)2110ETFDHUncertain significance1774702955RCV001974102|RCV003289338; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C09501234159629638159629638159629638-
NM_004453.4(ETFDH):c.1815A>G (p.Val605=)2110ETFDHLikely benign1248188975RCV002115043; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159629640159629640159629640-
NM_004453.4(ETFDH):c.1816C>A (p.Pro606Thr)2110ETFDHUncertain significance1292587000RCV001975432; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159629641159629641159629641-
NM_004453.4(ETFDH):c.1823G>A (p.Gly608Asp)2110ETFDHUncertain significance1303489545RCV001320015; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159629648159629648159629648-
NM_004453.4(ETFDH):c.1828G>A (p.Gly610Arg)2110ETFDHLikely pathogenic2126321296RCV002038411; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159629653159629653159629653-
NM_004453.4(ETFDH):c.1831G>A (p.Gly611Arg)2110ETFDHLikely pathogenic-1RCV003388383|RCV003397028; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|4159629656159629656-
NM_004453.4(ETFDH):c.1832G>A (p.Gly611Glu)2110ETFDHPathogenic/Likely pathogenic761669036RCV000255489|RCV001069003|RCV001833298; NMedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|41596296571596296574:g.159629657G>AClinGen:CA3122732,UniProtKB:Q16134#VAR_075460CN517202 not provided;
NM_004453.4(ETFDH):c.1834C>A (p.Pro612Thr)2110ETFDHUncertain significance-1RCV003089794; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159629659159629659NC_000004.11:g.159629659C>A-
NM_004453.4(ETFDH):c.1834C>T (p.Pro612Ser)2110ETFDHUncertain significance-1RCV002843226; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159629659159629659NC_000004.11:g.159629659C>T-
NM_004453.4(ETFDH):c.1842_1845dup (p.Gly616fs)2110ETFDHPathogenic-1RCV002664362; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159629666159629667NC_000004.11:g.159629667_159629670dup-
NM_004453.4(ETFDH):c.1848A>T (p.Gly616=)2110ETFDHLikely benign-1RCV003041289; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159629673159629673-
NM_004453.4(ETFDH):c.1852T>C (p.Ter618Gln)2110ETFDHConflicting interpretations of pathogenicity765742496RCV002047712; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159629677159629677159629677-
NM_004453.4(ETFDH):c.1852T>G (p.Ter618Glu)2110ETFDHUncertain significance765742496RCV001280242; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596296771596296774:g.159629677T>G-
NM_004453.4(ETFDH):c.*53del2110ETFDHUncertain significance753793193RCV000326186; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267914159629732159629732NC_000004.11:g.159629732delClinGen:CA3122742
NM_004453.4(ETFDH):c.*67T>G2110ETFDHUncertain significance1774708906RCV001147259; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679141596297461596297464:g.159629746T>G-
NM_004453.4(ETFDH):c.*135A>C2110ETFDHBenign17843966RCV000383079|RCV001691994; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C36619004159629814159629814NC_000004.11:g.159629814A>CClinGen:CA10620396C0268596 231680 Glutaric aciduria, type 2;
NM_025207.5(FLAD1):c.324del (p.Arg109fs)80308FLAD1Pathogenic876661314RCV000223942; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679111549564911549564911:g.154956491_154956491delClinGen:CA10575990C0268596 231680 Glutaric aciduria, type 2;
NM_025207.5(FLAD1):c.401_404del (p.Phe134fs)80308FLAD1Pathogenic876661313RCV000234837|RCV000223949; NMONDO:MONDO:0009703,MedGen:C4310822,OMIM:255100|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267911154960605154960608NC_000001.10:g.154960605TTCT[1]ClinGen:CA10575991,OMIM:610595.0001C0268596 231680 Glutaric aciduria, type 2;
NM_025207.5(FLAD1):c.498del (p.Ser167fs)80308FLAD1Pathogenic876661315RCV000223946; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679111549607061549607061:g.154960706_154960706delClinGen:CA10575992C0268596 231680 Glutaric aciduria, type 2;
NM_025207.5(FLAD1):c.508T>C (p.Phe170Leu)80308FLAD1Likely benign761928040RCV000223950; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:2679111549607161549607161:g.154960716T>CClinGen:CA1134344C0268596 231680 Glutaric aciduria, type 2;
NM_025207.5(FLAD1):c.526_537delinsCA (p.Ala176fs)80308FLAD1Pathogenic876661312RCV000223945|RCV000234836; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MONDO:MONDO:0009703,MedGen:C4310822,OMIM:2551001154960734154960745NC_000001.10:g.154960734_154960745delinsCAClinGen:CA10575993,OMIM:610595.0006C0268596 231680 Glutaric aciduria, type 2;
NM_025207.5(FLAD1):c.568_569dup (p.Val191fs)80308FLAD1Pathogenic876661310RCV000234839|RCV000223944; NMONDO:MONDO:0009703,MedGen:C4310822,OMIM:255100|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:267911154960775154960776NC_000001.10:g.154960776_154960777dupClinGen:CA10575994,OMIM:610595.0004C0268596 231680 Glutaric aciduria, type 2;
NM_025207.5(FLAD1):c.745C>T (p.Arg249Ter)80308FLAD1Pathogenic199979286RCV000986423|RCV001382523; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN51720211549609531549609531:g.154960953C>T-
NM_025207.5(FLAD1):c.836del (p.Phe279fs)80308FLAD1Pathogenic876661311RCV000223939|RCV000234842; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MONDO:MONDO:0009703,MedGen:C4310822,OMIM:25510011549610431549610431:g.154961043_154961043delOMIM:610595.0005,ClinGen:CA10575995C0268596 231680 Glutaric aciduria, type 2;
NM_025207.5(FLAD1):c.1484_1486del (p.Ser495del)80308FLAD1Pathogenic876661309RCV000223940|RCV000234840; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MONDO:MONDO:0009703,MedGen:C4310822,OMIM:2551001154962932154962934NC_000001.10:g.154962934_154962936delClinGen:CA10575996,OMIM:610595.0002C0268596 231680 Glutaric aciduria, type 2;
NM_025207.5(FLAD1):c.1588C>T (p.Arg530Cys)80308FLAD1Pathogenic/Likely pathogenic771466122RCV000223948|RCV000234835|RCV000521126|RCV003407734; NMONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MONDO:MONDO:0009703,MedGen:C4310822,OMIM:255100|MedGen:C3661900|11549652221549652221:g.154965222C>TClinGen:CA1134629,UniProtKB:Q8NFF5#VAR_077070,OMIM:610595.0003C0268596 231680 Glutaric aciduria, type 2;
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000140374 MSeqDR Search EnsemblETFA10354electron-transfer-flavoprotein, alpha polypeptide [Source:HGNC Symbol;Acc:3481]00439
ENSG00000105379 MSeqDR Search EnsemblETFB10185electron-transfer-flavoprotein, beta polypeptide [Source:HGNC Symbol;Acc:3482]00439
ENSG00000171503 MSeqDR Search EnsemblETFDH10683electron-transferring-flavoprotein dehydrogenase [Source:HGNC Symbol;Acc:3483]00439

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