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Amino Acid Metabolism, Inborn Errors (D000592)
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3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (C538324)

       Child Nodes:



 Sister Nodes: 
..expand2-AMINOADIPIC 2-OXOADIPIC ACIDURIA (OMIM:204750)
..expand2-Methylacetoacetyl CoA thiolase deficiency (C535307)
..expand2-Methylbutyryl-CoA Dehydrogenase Deficiency (C566487)
..expand3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (C538324)
..expand3-Hydroxyisobutyric aciduria (C535312)
..expand5-oxoprolinase deficiency (C535322)
..expandAcidemia, isovaleric (C538167)
..expandAcyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006)  LSDB  L: 00419;
..expandAdams Nance syndrome (C538224)
..expandAlaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus (C565968)
..expandAlbinism (D000417) Child30
..expandAlkaptonuria (D000474)
..expandAlpha-ketoglutarate dehydrogenase deficiency (C536582)
..expandAmino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis (C565960)
..expandAminoacylase 1 deficiency (C538246)
..expandArakawa syndrome 2 (C537426)
..expandArginine:Glycine Amidinotransferase Deficiency (C567192)  LSDB  L: 00444;
..expandAromatic amino acid decarboxylase deficiency (C537437)
..expandBeta ketothiolase deficiency (C535434)  LSDB  L: 00402;
..expandBeta-Aminoisobutyric Acid, Urinary Excretion of (C565904)
..expandBeta-Hydroxyisobutyryl CoA Deacylase Deficiency (C562803)
..expandBlue diaper syndrome (C536239)
..expandCamptodactyly taurinuria (C537972)
..expandCarboxypeptidase N Deficiency (C562876)
..expandCystathionase Deficiency (C562680)
..expandCysteine Peptiduria (C565659)
..expandDiaminopentanuria (C565630)
..expandDibasic Amino Aciduria I (C567132)
..expandDimethylglycine Dehydrogenase Deficiency (C565278)
..expandGamma aminobutyric acid transaminase deficiency (C535407)
..expandGlucoglycinuria (C562670)
..expandGlutamate Monosodium Sensitivity (C562377)
..expandGlutamine deficiency, congenital (C536832)
..expandGlutaric Acidemia I (C536833)
..expandGlutaric Aciduria III (C562818)
..expandGlutathione synthetase deficiency (C536835)
..expandGlutathionuria (C536836)
..expandGlycinuria with or without Oxalate Urolithiasis (C563009)
..expandHistidinemia (C538320)
..expandHomocarnosinosis (C535328)
..expandHydroxykynureninuria (C536081)
..expandHydroxyprolinemia (C562669)
..expandHyperglycinemia, Nonketotic (D020158) Child1  LSDB  L: 00499;
..expandHYPERGLYCINURIA (OMIM:138500)
..expandHyperhomocysteinemia (D020138) Child8
..expandHyperleucine-Isoleucinemia (C562674)
..expandHyperlysinemias (D020167) Child3  LSDB C:1
..expandHypermethioninemia (C564683)
..expandHyperprolinemia type 2 (C538385)
..expandHYPERPROLINEMIA, TYPE I (OMIM:239500)
..expandHypertaurinuric Cardiomyopathy (C564157)
..expandHypertryptophanemia, Familial (C563467)
..expandIchthyosis, Split Hairs, and Amino Aciduria (C565471)
..expandIndolylacroyl Glycinuria with Mental Retardation (C565466)
..expandIsobutyryl-CoA dehydrogenase deficiency (C535541)
..expandKetoadipicaciduria (C565453)
..expandLysine Malabsorption Syndrome (C563080)
..expandLysinuric Protein Intolerance (C562687)
..expandMaple Syrup Urine Disease (D008375) Child5
..expandMercaptolactate-Cysteine Disulfiduria (C563085)
..expandMethionine Malabsorption Syndrome (C562682)
..expandMethylmalonate Semialdehyde Dehydrogenase Deficiency (C566402)
..expandMethylmalonic acidemia (C537358) Child1
..expandMethylmalonic Aciduria and Homocystinuria, CblD Type (C564743)
..expandMethylmalonic Aciduria and Homocystinuria, CblF Type (C564747)
..expandMETHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE (OMIM:614857)
..expandMethylmalonic aciduria cblA type (C537360)
..expandMethylmalonic aciduria cblB type (C537361)
..expandMethylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency (C565390)
..expandMethylmalonyl-CoA Epimerase Deficiency (C565386)
..expandMethylmalonyl-CoA Epimerase Deficiency with Sepiapterin Reductase Deficiency (C565387)
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)  LSDB  L: 00034;
..expandMultiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) Child1  LSDB  L: 00439;
..expandMultiple Carboxylase Deficiency (D009100) Child4
..expandMyopathy due to Malate-Aspartate Shuttle Defect (C564973)
..expandPhenylketonurias (D010661) Child8
..expandProlidase Deficiency (D056732)
..expandPropionic Acidemia (D056693) Child1
..expandRichards-Rundle syndrome (C535674)
..expandSarcosinemia (C537236)
..expandsuccinic semialdehyde dehydrogenase deficiency (C535803)
..expandSulfite oxidase deficiency (C538141)
..expandTiglic acidemia (C536921)
..expandTryptophanuria With Dwarfism (C562658)
..expandTyrosinemias (D020176) Child1
..expandTyrosinosis (C562659)
..expandUrea Cycle Disorders, Inborn (D056806) Child16  LSDB C:4
..expandUrocanase deficiency (C536479)
..expandValinemia (C536524)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:17
Name:3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
Definition:
Alternative IDs:OMIM:246450
ParentIDs:MESH:D000592
TreeNumbers:C16.320.565.100/C538324 |C18.452.648.100/C538324
Synonyms:3-Hydroxy-3-Methylglutaric Aciduria |3-Hydroxy 3-Methyl Glutaric Aciduria |3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency |3-Hydroxyl 3-Methyl Glutaric Aciduria |Deficiency of Hydroxymethylglutaryl-CoA Lyase |HL DEFICIENCY |HMGCLD |HMGCL DEFICIENCY |HMG
Slim Mappings:Genetic disease (inborn)|Metabolic disease
Reference: MedGen: C538324
MeSH: C538324
OMIM: 246450;
MSeqDR LSDB:  
Genes: HMGCL; HMGCS2;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:00033443-Methylglutaric aciduria
3 HP:0001259Coma
4 HP:0003819Death in childhood
5 HP:0003234Decreased plasma carnitine
6 HP:0001262Excessive daytime somnolence
7 HP:0001945Fever
8 HP:0003150Glutaric aciduria
9 HP:0002240Hepatomegaly
10 HP:0001987Hyperammonemia
11 HP:0001943Hypoglycemia
12 HP:0410051Increased level of 3-hydroxy-3-methylglutaric acid in urine
13 HP:0410066Increased level of hippuric acid in urine
14 HP:0001942Metabolic acidosis
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001008216.2(GALE):c.-77+311C>T-1GALE;HMGCLLikely benignrs113324056RCV000288572; RCV000401588; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007; MedGen:C0751161,OMIM:230350, Orphanet:ORPHA79238,SNOMED CT:8849004124126891241268911:g.24126891G>A-
NM_000191.3(HMGCL):c.*486G>A-1GALE;HMGCLBenignrs11714RCV000345640; RCV000343484; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007; MedGen:C0751161,OMIM:230350, Orphanet:ORPHA79238,SNOMED CT:8849004124128467241284671:g.24128467C>T-
NM_000191.3(HMGCL):c.*414G>A3155HMGCLUncertain significancers886046310RCV000391720; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124128539241285391:g.24128539C>T-
NM_000191.3(HMGCL):c.*290T>C3155HMGCLUncertain significancers886046311RCV000315567; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124128663241286631:g.24128663A>G-
NM_000191.3(HMGCL):c.*289G>T3155HMGCLUncertain significancers369514739RCV000370139; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124128664241286641:g.24128664C>A-
NM_000191.3(HMGCL):c.*194C>G3155HMGCLUncertain significancers192071003RCV000275638; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124128759241287591:g.24128759G>C-
NM_000191.3(HMGCL):c.*104G>A3155HMGCLUncertain significancers552915017RCV000311528; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124128849241288491:g.24128849C>T-
NM_000191.3(HMGCL):c.977G>C (p.Ter326Ser)3155HMGCLUncertain significancers1303767209RCV000674531; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124128954241289541:g.24128954C>G-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.3(HMGCL):c.976T>C (p.Ter326Arg)3155HMGCLUncertain significancers1553131320RCV000671491; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124128955241289551:g.24128955A>G-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.3(HMGCL):c.958C>T (p.Gln320Ter)3155HMGCLUncertain significancers1553131326RCV000667700; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124128973241289731:g.24128973G>A-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.3(HMGCL):c.945C>G (p.Ser315Arg)3155HMGCLUncertain significancers1557484629RCV000689485; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124128986241289861:g.24128986G>C-
NM_000191.3(HMGCL):c.863T>A (p.Leu288Ter)3155HMGCLLikely pathogenicrs1425615804RCV000668130; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124130903241309031:g.24130903A>T-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer)3155HMGCLUncertain significancers779339230RCV000778975; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124130913241309131:g.24130913_24130913del-
NM_000191.3(HMGCL):c.828G>A (p.Leu276=)3155HMGCLUncertain significancers771024022RCV000356945; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124130938241309381:g.24130938C>T-
NM_000191.3(HMGCL):c.825C>G (p.Asn275Lys)3155HMGCLUncertain significancers1287973337RCV000672781; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124130941241309411:g.24130941G>C-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.3(HMGCL):c.804C>A (p.Tyr268Ter)3155HMGCLLikely pathogenicrs765198174RCV000667662; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124130962241309621:g.24130962G>T-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.3(HMGCL):c.800C>A (p.Pro267His)3155HMGCLUncertain significance-1RCV000798338; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124130966241309661:g.24130966G>T-
NM_000191.3(HMGCL):c.796T>C (p.Cys266Arg)3155HMGCLUncertain significancers757884073RCV000668025; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124130970241309701:g.24130970A>G-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.3(HMGCL):c.750+14T>A3155HMGCLUncertain significancers778868742RCV000262254; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124134611241346111:g.24134611A>T-
NM_000191.3(HMGCL):c.734C>T (p.Thr245Ile)3155HMGCLUncertain significancers761468576RCV000317462; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124134641241346411:g.24134641G>A-
NM_000191.3(HMGCL):c.708C>T (p.Asp236=)3155HMGCLConflicting interpretations of pathogenicityrs886046312RCV000372142; RCV000942083; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007; MedGen:CN517202124134667241346671:g.24134667G>A-
NM_000191.3(HMGCL):c.678_686dup (p.Ala229_Ala231dup)3155HMGCLUncertain significancers1553131921RCV000671121; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124134688241346891:g.24134688_24134689insGCAGCCAGA-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.3(HMGCL):c.630C>T (p.Thr210=)3155HMGCLUncertain significancers886046313RCV000323505; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124134745241347451:g.24134745G>A-
NM_000191.3(HMGCL):c.629C>T (p.Thr210Ile)3155HMGCLUncertain significance-1RCV000824476; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124134746241347461:g.24134746G>A-
NM_000191.3(HMGCL):c.624G>A (p.Val208=)3155HMGCLUncertain significance-1RCV000803940; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124134751241347511:g.24134751C>T-
NM_000191.3(HMGCL):c.608G>A (p.Gly203Glu)3155HMGCLUncertain significancers1553131940RCV000668593; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124134767241347671:g.24134767C>T-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.3(HMGCL):c.602C>A (p.Ser201Tyr)3155HMGCLPathogenicrs760106433RCV000672903; RCV000522404; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007; MedGen:CN517202124134773241347731:g.24134773G>T-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.3(HMGCL):c.594C>T (p.Tyr198=)3155HMGCLConflicting interpretations of pathogenicityrs139799938RCV000378120; RCV000935734; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007; MedGen:CN517202124134781241347811:g.24134781G>A-
NM_000191.3(HMGCL):c.562-2A>G3155HMGCLLikely pathogenicrs1553131955RCV000672261; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124134815241348151:g.24134815T>C-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.3(HMGCL):c.528T>A (p.Tyr176Ter)3155HMGCLLikely pathogenicrs112508527RCV000673585; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124137259241372591:g.24137259A>T-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.3(HMGCL):c.528T>G (p.Tyr176Ter)3155HMGCLLikely pathogenicrs112508527RCV000670504; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124137259241372591:g.24137259A>C-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.3(HMGCL):c.503_504TC[1] (p.Ser169fs)3155HMGCLPathogenicrs764264834RCV000672012; RCV000624137; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007; MeSH:D030342,MedGen:C095012312413728124137282NC_000001.10:g.24137281_24137282GA[1]-
NM_000191.3(HMGCL):c.502G>A (p.Val168Ile)3155HMGCLUncertain significance-1RCV000821064; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124137285241372851:g.24137285C>T-
NM_000191.3(HMGCL):c.501C>G (p.Tyr167Ter)3155HMGCLLikely pathogenicrs200189529RCV000672306; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124137286241372861:g.24137286G>C-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.3(HMGCL):c.499T>A (p.Tyr167Asn)3155HMGCLPathogenicrs1553132209RCV000626227; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124137288241372881:g.24137288A>T-
NM_000191.3(HMGCL):c.498-10C>A3155HMGCLConflicting interpretations of pathogenicityrs373505626RCV000693409; RCV000429344; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007; MedGen:CN169374124137299241372991:g.24137299G>T-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.3(HMGCL):c.497+4A>G3155HMGCLConflicting interpretations of pathogenicityrs568718845RCV000665452; RCV000498294; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007; MedGen:CN517202124140676241406761:g.24140676T>C-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.3(HMGCL):c.497+3G>A3155HMGCLUncertain significancers763178392RCV000282964; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124140677241406771:g.24140677C>T-
NM_000191.3(HMGCL):c.493C>T (p.Arg165Trp)3155HMGCLUncertain significancers764039230RCV000674878; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124140684241406841:g.24140684G>A-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.3(HMGCL):c.470C>T (p.Ala157Val)3155HMGCLUncertain significance-1RCV000808106; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124140707241407071:g.24140707G>A-
NM_000191.3(HMGCL):c.413del (p.Asn138fs)3155HMGCLLikely pathogenicrs1553132520RCV000672095; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124140764241407641:g.24140764_24140764del-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.3(HMGCL):c.392C>T (p.Ser131Leu)3155HMGCLUncertain significance-1RCV000986278; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124140785241407851:g.24140785G>A-
NM_000191.3(HMGCL):c.286C>T (p.Gln96Ter)3155HMGCLLikely pathogenicrs890995574RCV000673631; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124143227241432271:g.24143227G>A-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.3(HMGCL):c.286del (p.Gln96fs)3155HMGCLLikely pathogenicrs1184002840RCV000670074; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124143227241432271:g.24143227_24143227del-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.3(HMGCL):c.254T>C (p.Met85Thr)3155HMGCLUncertain significancers886046314RCV000347350; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124143259241432591:g.24143259A>G-
NM_000191.3(HMGCL):c.218C>A (p.Thr73Asn)3155HMGCLUncertain significance-1RCV000815363; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124144000241440001:g.24144000G>T-
NM_000191.3(HMGCL):c.121dup (p.Arg41fs)3155HMGCLLikely pathogenicrs1553133042RCV000672347; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124147022241470231:g.24147022_24147023insG-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter)3155HMGCLLikely pathogenicrs770225915RCV000669475; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124147023241470231:g.24147023G>A-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter)3155HMGCLPathogenicrs763494292RCV000175544; RCV000400835; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007; MedGen:CN517202124147035241470351:g.24147035C>A-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.3(HMGCL):c.60+1G>T3155HMGCLLikely pathogenicrs1324641233RCV000671577; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124151845241518451:g.24151845C>A-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.3(HMGCL):c.48G>A (p.Ala16=)3155HMGCLBenign/Likely benignrs115611440RCV000383162; RCV000858892; RCV000441882; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007; MedGen:CN517202; MedGen:CN169374124151858241518581:g.24151858C>T-
NM_000191.3(HMGCL):c.31C>T (p.Arg11Ter)3155HMGCLPathogenicrs1212444447RCV000671133; RCV000623341; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007; MeSH:D030342,MedGen:C0950123124151875241518751:g.24151875G>A-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.3(HMGCL):c.27del (p.Arg10fs)3155HMGCLPathogenicrs1409716731RCV000673450; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124151879241518791:g.24151879_24151879del-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.3(HMGCL):c.3G>T (p.Met1Ile)3155HMGCLLikely pathogenicrs1302190999RCV000670399; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124151903241519031:g.24151903C>A-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_001166059.1(HMGCL):c.-41G>C3155HMGCLUncertain significancers886046315RCV000288840; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007124151946241519461:g.24151946C>G-
NM_000191.2(HMGCL):c.-59A>C3155HMGCLLikely benignrs188188846RCV000403712; RCV000835422; NMedGen:C0268601,OMIM:246450, Orphanet:ORPHA20,SNOMED CT:124611007; MedGen:CN517202124151964241519641:g.24151964T>G-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
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