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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_000403.3(GALE):c.-91C>T-1GALE;HMGCLLikely benign113324056RCV000288572; RCV000401588; NMedGen:C0268601,OMIM:246450,SNOMED CT:124611007; MedGen:C0751161,OMIM:230350, Orphanet:ORPHA79238,SNOMED CT:884900412412689124126891-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.*486G>A-1GALE;HMGCLBenign11714RCV000345640; RCV000343484; NMedGen:C0268601,OMIM:246450,SNOMED CT:124611007; MedGen:C0751161,OMIM:230350, Orphanet:ORPHA79238,SNOMED CT:884900412412846724128467-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.*414G>A3155HMGCLUncertain significance886046310RCV000391720; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712412853924128539-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.*290T>C3155HMGCLUncertain significance886046311RCV000315567; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712412866324128663-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.*289G>T3155HMGCLUncertain significance369514739RCV000370139; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712412866424128664-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.*194C>G3155HMGCLUncertain significance192071003RCV000275638; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712412875924128759-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.*104G>A3155HMGCLUncertain significance552915017RCV000311528; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712412884924128849-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.977G>C (p.Ter326Ser)3155HMGCLUncertain significance1303767209RCV000674531; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712412895424128954-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.976T>C (p.Ter326Arg)3155HMGCLUncertain significance1553131320RCV000671491; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712412895524128955-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.958C>T (p.Gln320Ter)3155HMGCLUncertain significance1553131326RCV000667700; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712412897324128973-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.945C>G (p.Ser315Arg)3155HMGCLUncertain significance-1RCV000689485; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712412898624128986-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.933C>T (p.Asn311=)3155HMGCLLikely benign1194563406RCV000634904; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712412899824128998-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.914_915delTT (p.Phe305Tyrfs)3155HMGCLPathogenic786205431RCV000032616; RCV000724623; NMedGen:C0268601,OMIM:246450,SNOMED CT:124611007; MedGen:CN51720212412901624129017OMIM Allelic Variant:613898.0006C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.863T>A (p.Leu288Ter)3155HMGCLLikely pathogenic1425615804RCV000668130; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712413090324130903-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2:c.853delC3155HMGCLUncertain significance-1RCV000778975; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712413091224130913-
NM_000191.2(HMGCL):c.835G>A (p.Glu279Lys)3155HMGCLPathogenic121964998RCV000012736; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712413093124130931OMIM Allelic Variant:613898.0005,UniProtKB (protein):P35914#VAR_014202C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.828G>A (p.Leu276=)3155HMGCLUncertain significance771024022RCV000356945; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712413093824130938-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.825C>G (p.Asn275Lys)3155HMGCLUncertain significance1287973337RCV000672781; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712413094124130941-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.804C>A (p.Tyr268Ter)3155HMGCLLikely pathogenic765198174RCV000667662; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712413096224130962-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.796T>C (p.Cys266Arg)3155HMGCLUncertain significance757884073RCV000668025; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712413097024130970-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.750+14T>A3155HMGCLUncertain significance778868742RCV000262254; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712413461124134611-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.734C>T (p.Thr245Ile)3155HMGCLUncertain significance761468576RCV000317462; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712413464124134641-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.708C>T (p.Asp236=)3155HMGCLUncertain significance886046312RCV000372142; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712413466724134667-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.698A>G (p.His233Arg)3155HMGCLPathogenic/Likely pathogenic727503963RCV000665316; RCV000153365; NMedGen:C0268601,OMIM:246450,SNOMED CT:124611007; MedGen:CN51720212413467724134677HGMD:CM962739,UniProtKB (protein):P35914#VAR_003749C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.678_686dup (p.Ala231_Val232insAlaLeuAla)3155HMGCLUncertain significance1553131921RCV000671121; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712413468824134688-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.663C>T (p.Val221=)3155HMGCLLikely benign143884026RCV000634902; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712413471224134712-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.654A>G (p.Leu218=)3155HMGCLBenign719400RCV000268428; RCV000078343; NMedGen:C0268601,OMIM:246450,SNOMED CT:124611007; MedGen:CN16937412413472124134721-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.630C>T (p.Thr210=)3155HMGCLUncertain significance886046313RCV000323505; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712413474524134745-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.608G>A (p.Gly203Glu)3155HMGCLUncertain significance1553131940RCV000668593; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712413476724134767-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.602C>A (p.Ser201Tyr)3155HMGCLConflicting interpretations of pathogenicity760106433RCV000672903; RCV000522404; NMedGen:C0268601,OMIM:246450,SNOMED CT:124611007; MedGen:CN51720212413477324134773-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.594C>T (p.Tyr198=)3155HMGCLUncertain significance139799938RCV000378120; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712413478124134781-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.562-2A>G3155HMGCLLikely pathogenic1553131955RCV000672261; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712413481524134815-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.528T>A (p.Tyr176Ter)3155HMGCLLikely pathogenic112508527RCV000673585; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712413725924137259-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.528T>G (p.Tyr176Ter)3155HMGCLLikely pathogenic112508527RCV000670504; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712413725924137259-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.505_506delTC (p.Ser169Leufs)3155HMGCLPathogenic764264834RCV000672012; RCV000624137; NMedGen:C0268601,OMIM:246450,SNOMED CT:124611007; MeSH:D030342,MedGen:C095012312413728124137282-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.501C>G (p.Tyr167Ter)3155HMGCLLikely pathogenic200189529RCV000672306; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712413728624137286-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.499T>A (p.Tyr167Asn)3155HMGCLPathogenic1553132209RCV000626227; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712413728824137288-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.498-10C>A3155HMGCLConflicting interpretations of pathogenicity373505626RCV000693409; RCV000429344; NMedGen:C0268601,OMIM:246450,SNOMED CT:124611007; MedGen:CN16937412413729924137299-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.497+4A>G3155HMGCLConflicting interpretations of pathogenicity568718845RCV000665452; RCV000498294; NMedGen:C0268601,OMIM:246450,SNOMED CT:124611007; MedGen:CN51720212414067624140676-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.497+3G>A3155HMGCLUncertain significance763178392RCV000282964; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712414067724140677-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.493C>T (p.Arg165Trp)3155HMGCLUncertain significance764039230RCV000674878; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712414068424140684-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.413delA (p.Asn138Thrfs)3155HMGCLLikely pathogenic1553132520RCV000672095; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712414076324140764-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.393A>G (p.Ser131=)3155HMGCLBenign/Likely benign56218308RCV000536522; RCV000423153; NMedGen:C0268601,OMIM:246450,SNOMED CT:124611007; MedGen:CN16937412414078424140784-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.286delC (p.Gln96Argfs)3155HMGCLLikely pathogenic1184002840RCV000670074; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712414322624143227-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.286C>T (p.Gln96Ter)3155HMGCLLikely pathogenic890995574RCV000673631; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712414322724143227-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.254T>C (p.Met85Thr)3155HMGCLUncertain significance886046314RCV000347350; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712414325924143259-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.208G>C (p.Val70Leu)3155HMGCLUncertain significance121964996RCV000012733; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712414401024144010OMIM Allelic Variant:613898.0002,UniProtKB (protein):P35914#VAR_003748C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.206_207delCT (p.Ser69Cysfs)3155HMGCLPathogenic/Likely pathogenic752137615RCV000012732; RCV000185970; NMedGen:C0268601,OMIM:246450,SNOMED CT:124611007; MedGen:CN51720212414401124144012OMIM Allelic Variant:613898.0001C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.145-8C>T3155HMGCLLikely benign369286537RCV000634903; RCV000441659; NMedGen:C0268601,OMIM:246450,SNOMED CT:124611007; MedGen:CN16937412414408124144081-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.122G>A (p.Arg41Gln)3155HMGCLPathogenic121964997RCV000012735; RCV000078342; NMedGen:C0268601,OMIM:246450,SNOMED CT:124611007; MedGen:CN51720212414702224147022HGMD:CM980987,OMIM Allelic Variant:613898.0004,UniProtKB (protein):P35914#VAR_003744C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.121dup (p.Arg41Profs)3155HMGCLLikely pathogenic1553133042RCV000672347; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712414702224147022-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.121C>T (p.Arg41Ter)3155HMGCLLikely pathogenic770225915RCV000669475; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712414702324147023-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.109G>T (p.Glu37Ter)3155HMGCLPathogenic763494292RCV000175544; RCV000400835; NMedGen:C0268601,OMIM:246450,SNOMED CT:124611007; MedGen:CN51720212414703524147035-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.60+1G>T3155HMGCLLikely pathogenic1324641233RCV000671577; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712415184524151845-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.48G>A (p.Ala16=)3155HMGCLBenign/Likely benign115611440RCV000383162; RCV000441882; NMedGen:C0268601,OMIM:246450,SNOMED CT:124611007; MedGen:CN16937412415185824151858-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.31C>T (p.Arg11Ter)3155HMGCLPathogenic1212444447RCV000671133; RCV000623341; NMedGen:C0268601,OMIM:246450,SNOMED CT:124611007; MeSH:D030342,MedGen:C095012312415187524151875-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.27delG (p.Arg10Glyfs)3155HMGCLPathogenic1409716731RCV000673450; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712415187824151879-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.3G>T (p.Met1Ile)3155HMGCLLikely pathogenic1302190999RCV000670399; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712415190324151903-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.-41G>C3155HMGCLUncertain significance886046315RCV000288840; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712415194624151946-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
NM_000191.2(HMGCL):c.-59A>C3155HMGCLLikely benign188188846RCV000403712; NMedGen:C0268601,OMIM:246450,SNOMED CT:12461100712415196424151964-C0268601 246450 Deficiency of hydroxymethylglutaryl-CoA lyase;
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