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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Metabolism, Inborn Errors (D008661)
..Starting node
..expand
3-Methylglutaconic Aciduria, Type I (C562801)

       Child Nodes:



 Sister Nodes: 
..expand3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784)  LSDB  L: 00105;
..expand3-Hydroxyacyl-CoA Dehydrogenase Deficiency (C535310)  LSDB  L: 00467;
..expand3-Methylglutaconic Aciduria (C579867)
..expand3-Methylglutaconic Aciduria Type IV (C565393)
..expand3-Methylglutaconic Aciduria, Type I (C562801)  LSDB  L: 00495;
..expand3-Methylglutaconic Aciduria, Type V (C565706)  LSDB  L: 00079;
..expand5-Nucleotidase syndrome (C535321)
..expand6-Phosphogluconolactonase Deficiency (C566803)
..expandAcetylcarnitine deficiency (C536006)
..expandAcholinesterasemia (C566750)
..expandAcid Phosphatase Deficiency (C562645)
..expandAdenine phosphoribosyltransferase deficiency (C538228)
..expandalpha-Fetoprotein Deficiency (C566300)
..expandAmino Acid Metabolism, Inborn Errors (D000592) Child169  LSDB C:10
..expandAmino Acid Transport Disorders, Inborn (D020157) Child3
..expandAmobarbital, Deficient N-Hydroxylation of (C565959)
..expandAmyloidosis, Familial (D028226) Child13
..expandArene Oxide Detoxification Defect (C565043)
..expandAromatase deficiency (C537436)
..expandAryl Hydrocarbon Hydroxylase Inducibility (C566250)
..expandBISPHOSPHOGLYCERATE MUTASE DEFICIENCY (OMIM:222800)
..expandBrain Diseases, Metabolic, Inborn (D020739) Child218  LSDB C:20
..expandButyrylcholinesterase deficiency (C537417)
..expandButyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type (C566751)
..expandCarbohydrate Metabolism, Inborn Errors (D002239) Child169  LSDB C:9
..expandCARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:615751)
..expandCarnitine Acetyltransferase Deficiency (C563249)
..expandCarnitine palmitoyl transferase 2 deficiency (C535589)
..expandChromate Resistance (C566125)
..expandCombined Malonic and Methylmalonic Aciduria (C580002)
..expandCombined Oxidative Phosphorylation Deficiency 1 (C563797)  LSDB  L: 00092;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 (OMIM:614702)  LSDB  L: 00093;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)  LSDB  L: 00423;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)  LSDB  L: 00511;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 (OMIM:614932)  LSDB  L: 00512;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 (OMIM:614946)  LSDB  L: 00094;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 (OMIM:614947)  LSDB  L: 00095;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16 (OMIM:615395)  LSDB  L: 00080;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 (OMIM:615440)  LSDB  L: 00513;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 (OMIM:615578)  LSDB  L: 00514;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 (OMIM:615595)  LSDB  L: 00500;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 (OMIM:615917)  LSDB  L: 00515;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21 (OMIM:615918)  LSDB  L: 00501;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 (OMIM:616045)  LSDB  L: 00502;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 (OMIM:616198)  LSDB  L: 00516;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)  LSDB  L: 00517;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 (OMIM:616430)  LSDB  L: 00503;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)  LSDB  L: 00518;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27 (OMIM:616672)  LSDB  L: 00519;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 (OMIM:616794)  LSDB  L: 00520;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 (OMIM:616811)  LSDB  L: 00504;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 (OMIM:616974)  LSDB  L: 00521;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 (OMIM:617228)  LSDB  L: 00522;
..expandCombined Oxidative Phosphorylation Deficiency 4 (C565690)  LSDB  L: 00098;
..expandCombined Oxidative Phosphorylation Deficiency 5 (C567126)  LSDB  L: 00099;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 (OMIM:614096)  LSDB  L: 00076;
..expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9 (OMIM:614582)  LSDB  L: 00100;
..expandCongenital chloride diarrhea (C536210)
..expandCopper deficiency, familial benign (C535468)
..expandCosteff optic atrophy syndrome (C535311)  LSDB  L: 00496;
..expandCoumarin Resistance (C563039)
..expandCoumarin Sensitivity (C567276)
..expandCREATINE PHOSPHOKINASE, ELEVATED SERUM (OMIM:123320)
..expandCytochrome-c Oxidase Deficiency (D030401) Child2  LSDB C:2 L: 00012;
..expandDeafness hyperuricemia neurologic ataxia (C535995)
..expandDeoxyribose-5-Phosphate Aldolase Deficiency (C565112)
..expandDiarrhea 3, Secretory Sodium, Congenital (C562576)
..expandDiarrhea 3, Secretory Sodium, Congenital, Syndromic (C567490)
..expandDiarrhea, Glucose-Stimulated Secretory, with Common Variable Immunodeficiency (C565099)
..expandDihydropyrimidinase Deficiency (C562815)
..expandDiphenylhydantoin, Defect in Hydroxylation of (C565044)
..expandDrug Metabolism, Poor, CYP2C19-Related (C563703)
..expandDrug Metabolism, Poor, CYP2D6-Related (C563835)  LSDB  L: 00651;
..expandDystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency (C562657)
..expandEFAVIRENZ, POOR METABOLISM OF (OMIM:614546)
..expandEnterokinase Deficiency (C562649)
..expandEthanolaminosis (C562651)
..expandFamilial gynecomastia, due to increased aromatase activity (C000591739)
..expandFinnish lethal neonatal metabolic syndrome (C537934)  LSDB  L: 00104;
..expandFumaric aciduria (C538191)
..expandGlucocorticoid Receptor Deficiency (C564221)
..expandGlutamate formiminotransferase deficiency (C537425)
..expandGlycoprotein Storage Disease (C565538)
..expandGlyoxalase II Deficiency (C564215)
..expandGrowth Factors, Combined Defect of (C565529)
..expandHEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (OMIM:613470)
..expandHEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY (OMIM:235700)
..expandHyaluronan Metabolism, Defect in (C565742)
..expandHyperbilirubinemia, Hereditary (D006933) Child7
..expandHypercalcemia, Idiopathic, of Infancy (C562581)
..expandHYPERCHLORHIDROSIS, ISOLATED (OMIM:143860)
..expandHypoadiponectinemia (C567258)
..expandHypokalemia, Familial (C562654)
..expandHypoproteinemia, Hypercatabolic (C565476)
..expandInosine Triphosphatase Deficiency (C564127)
..expandIntrinsic Factor and R Binder, Combined Congenital Deficiency of (C565461)
..expandKallikrein, Decreased Urinary Activity of (C563653)
..expandL-Gulonolactone Oxidase, Nonfunctional (C565486)
..expandLactate Dehydrogenase B Deficiency (C563641)
..expandLactic Aciduria due to D-Lactic Acid (C565446)
..expandLEPTIN DEFICIENCY OR DYSFUNCTION (OMIM:614962)
..expandLEPTIN RECEPTOR DEFICIENCY (OMIM:614963)
..expandLeukotriene C4 Synthase Deficiency (C565439)
..expandLipid Metabolism, Inborn Errors (D008052) Child135  LSDB C:9
..expandLIPOYLTRANSFERASE 1 DEFICIENCY (OMIM:616299)
..expandLONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:609016)  LSDB  L: 00474;
..expandLysosomal Storage Diseases (D016464) Child106
..expandMalonic aciduria (C535702)
..expandMannose 6-Phosphate Receptor Recognition Defect, Lebanese Type (C563601)
..expandMannose-Binding Protein Deficiency (C563602)
..expandMedium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
..expandMetal Metabolism, Inborn Errors (D008664) Child55
..expandMethemoglobin Reductase Deficiency (C563171)
..expandMethylcobalamin Deficiency, CblG Type (C565394)
..expandMethylmalonyl-Coenzyme A mutase deficiency (C537573)
..expandMitochondrial Complex II Deficiency (C565375)  LSDB  L: 00016;
..expandMitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive (C567624)
..expandMONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY (OMIM:616095)
..expandMyeloperoxidase Deficiency (C562864)
..expandN acetyltransferase deficiency (C536107)
..expandPancreatic Insufficiency, Combined Exocrine (C564907)
..expandPeroxisomal Disorders (D018901) Child39
..expandPhenacetin O-Deethylase, Deficiency of (C565127)
..expandPhenol sulfotransferase deficiency (C537895)
..expandPhosphoglycerate Kinase 1 Deficiency (C567067)
..expandProgeria (D011371) Child11
..expandProguanil, Poor Metabolism of (C563704)
..expandPurine-Pyrimidine Metabolism, Inborn Errors (D011686) Child24
..expandRenal Tubular Transport, Inborn Errors (D015499) Child76  LSDB C:2
..expandRetinol-Binding Protein Deficiency (C566711)
..expandSteroid Metabolism, Inborn Errors (D043202) Child34
..expandStomatocytosis I (C566111)
..expandStomatocytosis II (C566110)
..expandSuccinic Acidemia (C563952)
..expandTHIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE) (OMIM:613710)
..expandTHYROTROPIN-RELEASING HORMONE DEFICIENCY (OMIM:275120)
..expandTranscobalamin I Deficiency (C562798)
..expandTrimethylaminuria (C536561)
..expandTRYPSINOGEN DEFICIENCY (OMIM:614044)
..expandWarfarin Sensitivity (C567080)
..expandWeinstein Kliman Scully syndrome (C536688)
..expandWiedemann Oldigs Oppermann syndrome (C536705)
..expandXanthinuria, Type I (C562584)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:24
Name:3-Methylglutaconic Aciduria, Type I
Definition:
Alternative IDs:OMIM:250950
ParentIDs:MESH:D008661
TreeNumbers:C16.320.565/C562801 |C18.452.648/C562801
Synonyms:3-Methylglutaconyl-CoA Hydratase Deficiency |3-Mg-CoA-Hydratase Deficiency |MGA1 |MGA, Type I |MGCA1
Slim Mappings:Genetic disease (inborn)|Metabolic disease
Reference: MedGen: C562801
MeSH: C562801
OMIM: 250950;
MSeqDR LSDB: 00495;  
Genes: AUH;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003593Infantile onset
3 HP:00035353-Methylglutaconic aciduria
4 HP:0001251Ataxia
5 HP:0002305Athetosis
6 HP:0002059Cerebral atrophy
7 HP:0100543Cognitive impairment
NAMDC:  Cognitive delay
8 HP:0000750Delayed speech and language development
NAMDC:  Delayed language
9 HP:0001260Dysarthria
NAMDC:  Dysarthria
10 HP:0001332Dystonia
NAMDC:  Dystonia
11 HP:0001508Failure to thrive
12 HP:0002373Febrile seizures
13 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
HP:0040283
14 HP:0001263Global developmental delay
NAMDC:  Mental retardation
HP:0040283
15 HP:0001347Hyperreflexia
NAMDC:  Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
16 HP:0002352Leukoencephalopathy
17 HP:0001942Metabolic acidosis
18 HP:0001270Motor delay
19 HP:0000648Optic atrophy
20 HP:0003812Phenotypic variability
21 HP:0000736Short attention span
22 HP:0002510Spastic tetraplegia
23 HP:0000020Urinary incontinence
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001698.3(AUH):c.*432C>T549AUHUncertain significancers746233646RCV000395821; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699397619893976198GANC_000009.11:g.93976198G>AClinGen:CA10634067C0342727 250950 3-Methylglutaconic aciduria type 1;
NM_001698.3(AUH):c.*259_*262del549AUHUncertain significancers377176126RCV000302773; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699397636893976371GTAAAGNC_000009.11:g.93976370_93976373delClinGen:CA10634449C0342727 250950 3-Methylglutaconic aciduria type 1;
NM_001698.3(AUH):c.*237G>A549AUHUncertain significancers933932318RCV001168931; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699397639393976393CT9:g.93976393C>T-
NM_001698.3(AUH):c.*218_*219del549AUHUncertain significancers1057515675RCV000339032; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699397641193976412ACTANC_000009.11:g.93976411_93976412delClinGen:CA10634072C0342727 250950 3-Methylglutaconic aciduria type 1;
NM_001698.3(AUH):c.*200A>G549AUHBenignrs113687423RCV001168932; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699397643093976430TC9:g.93976430T>C-
NM_001698.3(AUH):c.*175G>A549AUHUncertain significancers1826691653RCV001168933; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699397645593976455CT9:g.93976455C>T-
NM_001698.3(AUH):c.*107A>G549AUHBenignrs75505223RCV000399880|RCV001712352; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:67046|MedGen:CN51720299397652393976523TCNC_000009.11:g.93976523T>CClinGen:CA10630517C0342727 250950 3-Methylglutaconic aciduria type 1;
NM_001698.3(AUH):c.*60G>A549AUHUncertain significancers1564001076RCV001168934; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699397657093976570CT9:g.93976570C>T-
NM_001698.3(AUH):c.*29G>A549AUHUncertain significancers200499826RCV000300192; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699397660193976601CTNC_000009.11:g.93976601C>TClinGen:CA5119643C0342727 250950 3-Methylglutaconic aciduria type 1;
NM_001698.3(AUH):c.1004G>A (p.Arg335His)549AUHUncertain significancers529693736RCV000513460|RCV001168935; NMedGen:CN517202|MONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699397664693976646CTNC_000009.11:g.93976646C>TClinGen:CA5119653CN517202 not provided;
NM_001698.3(AUH):c.1003C>T (p.Arg335Cys)549AUHUncertain significance-1RCV001878635; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699397664793976647GA93976647-
NM_001698.3(AUH):c.998C>T (p.Pro333Leu)549AUHUncertain significance-1RCV001955811; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699397665293976652GA93976652-
NM_001698.3(AUH):c.991A>T (p.Lys331Ter)549AUHUncertain significancers387906757RCV000022984; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699397665993976659TA9:g.93976659T>AClinGen:CA128919,OMIM:600529.0008C0342727 250950 3-Methylglutaconic aciduria type 1;
NM_001698.3(AUH):c.951A>T (p.Pro317=)549AUHConflicting interpretations of pathogenicityrs530710210RCV000354984|RCV000606408; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:67046|MedGen:CN16937499397669993976699TANC_000009.11:g.93976699T>AClinGen:CA5119663C0342727 250950 3-Methylglutaconic aciduria type 1;
NM_001698.3(AUH):c.943-2A>G549AUHPathogenicrs730880312RCV000009627; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699397670993976709TCNC_000009.11:g.93976709T>CClinGen:CA120090,OMIM:600529.0005C0342727 250950 3-Methylglutaconic aciduria type 1;
NM_001698.3(AUH):c.943-6T>C549AUHBenign-1RCV002115454; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699397671393976713AG93976713-
NM_001698.3(AUH):c.943-6del549AUHBenign-1RCV002138597; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699397671393976713GAG93976712-
NM_001698.3(AUH):c.942+4dup549AUHUncertain significancers1554688047RCV000635280; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699397833693978337CCANC_000009.11:g.93978337dupClinGen:CA658797222C0342727 250950 3-Methylglutaconic aciduria type 1;
NM_001698.3(AUH):c.936T>C (p.Tyr312=)549AUHConflicting interpretations of pathogenicityrs139628387RCV000612120|RCV000873524|RCV001310658; NMedGen:CN169374|MONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:67046|MedGen:CN51720299397834793978347AG9:g.93978347A>GClinGen:CA5119683CN169374 not specified;
NM_001698.3(AUH):c.927A>G (p.Glu309=)549AUHBenignrs78739693RCV000123790|RCV000676892|RCV001083466; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699397835693978356TC9:g.93978356T>CClinGen:CA289613CN517202 not provided;
NM_001698.3(AUH):c.926A>C (p.Glu309Ala)549AUHUncertain significance-1RCV001981296; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699397835793978357TG93978357-
NM_001698.3(AUH):c.909A>C (p.Thr303=)549AUHLikely benignrs779607746RCV000976896|RCV001490167; NMedGen:CN517202|MONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699397837493978374TG9:g.93978374T>G-
NM_001698.3(AUH):c.898G>A (p.Asp300Asn)549AUHUncertain significancers746215620RCV001241294; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699397838593978385CT9:g.93978385C>T-
NM_001698.3(AUH):c.895-1G>A549AUHPathogenicrs730880309RCV000009624; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699397838993978389CT9:g.93978389C>TClinGen:CA120088,OMIM:600529.0002C0342727 250950 3-Methylglutaconic aciduria type 1;
NM_001698.3(AUH):c.895-9del549AUHBenign-1RCV002118125; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699397839793978397TAT93978396-
NM_001698.3(AUH):c.894+19G>C549AUHLikely benign-1RCV002095952; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699397954093979540CG93979540-
NM_001698.3(AUH):c.894+14dup549AUHLikely benign-1RCV002176555; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699397954493979545CCA93979544-
NM_001698.3(AUH):c.894+9C>A549AUHConflicting interpretations of pathogenicityrs1388023086RCV001253974; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699397955093979550GT9:g.93979550G>T-
NM_001698.3(AUH):c.864G>A (p.Val288=)549AUHLikely benign-1RCV001460892; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699397958993979589CT93979589-
NM_001698.3(AUH):c.860G>C (p.Arg287Thr)549AUHUncertain significance-1RCV001963400; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699397959393979593CG93979593-
NM_001698.3(AUH):c.856A>G (p.Met286Val)549AUHUncertain significance-1RCV001913434; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699397959793979597TC93979597-
NM_001698.3(AUH):c.850G>A (p.Val284Ile)549AUHUncertain significance-1RCV002003841; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699397960393979603CT93979603-
NM_001698.3(AUH):c.844-20T>C549AUHBenign/Likely benignrs769924401RCV000242846|RCV002058063; NMedGen:CN169374|MONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699397962993979629AG9:g.93979629A>GClinGen:CA5119712CN169374 not specified;
NC_000009.12:g.(?_91220785)_(91221012_?)del549AUHPathogenic-1RCV001032032; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699398306793983294nana-1-
NM_001698.3(AUH):c.843+13A>G549AUHLikely benign-1RCV002102916; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699398307493983074TC93983074-
NM_001698.3(AUH):c.833T>C (p.Phe278Ser)549AUHUncertain significance-1RCV001977608; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699398309793983097AG93983097-
NM_001698.3(AUH):c.824C>T (p.Ala275Val)549AUHConflicting interpretations of pathogenicityrs748318386RCV000196487|RCV000624471|RCV001853168; NMedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699398310693983106GANC_000009.11:g.93983106G>AClinGen:CA320900C0950123 Inborn genetic diseases;
NM_001698.3(AUH):c.807G>A (p.Arg269=)549AUHLikely benignrs145208407RCV000526949|RCV001718811; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:67046|MedGen:CN51720299398312393983123CT9:g.93983123C>TClinGen:CA5119734C0342727 250950 3-Methylglutaconic aciduria type 1;
NM_001698.3(AUH):c.804C>T (p.Tyr268=)549AUHLikely benign-1RCV002102880; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699398312693983126GA93983126-
NM_001698.3(AUH):c.798G>A (p.Ala266=)549AUHBenign/Likely benignrs760509061RCV000196060|RCV002054320; NMedGen:CN169374|MONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699398313293983132CT9:g.93983132C>TClinGen:CA320459CN169374 not specified;
NM_001698.3(AUH):c.797C>T (p.Ala266Val)549AUHUncertain significance-1RCV002043008; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699398313393983133GA93983133-
NM_001698.3(AUH):c.795C>T (p.Asp265=)549AUHLikely benignrs761573002RCV000251276|RCV002058062; NMedGen:CN169374|MONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699398313593983135GA9:g.93983135G>AClinGen:CA5119738CN169374 not specified;
NM_001698.3(AUH):c.791G>A (p.Gly264Glu)549AUHUncertain significancers376821113RCV000200070|RCV000703446; NMedGen:CN517202|MONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699398313993983139CTNC_000009.11:g.93983139C>TClinGen:CA324627C0342727 250950 3-Methylglutaconic aciduria type 1;
NM_001698.3(AUH):c.769G>A (p.Val257Ile)549AUHUncertain significance-1RCV001916388; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699398316193983161CT93983161-
NM_001698.3(AUH):c.746A>G (p.Lys249Arg)549AUHUncertain significance-1RCV002049956; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699398318493983184TC93983184-
NM_001698.3(AUH):c.736A>G (p.Lys246Glu)549AUHUncertain significance-1RCV002020199; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699398319493983194TC93983194-
NM_001698.3(AUH):c.730G>A (p.Asp244Asn)549AUHUncertain significancers202182817RCV000195704|RCV000766066; NMedGen:CN517202|MONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699398320093983200CT9:g.93983200C>TClinGen:CA320067CN169374 not specified;
NM_001698.3(AUH):c.722G>A (p.Arg241Gln)549AUHUncertain significancers1269002301RCV001036392; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699398320893983208CT9:g.93983208C>T-
NM_001698.3(AUH):c.721C>T (p.Arg241Ter)549AUHPathogenic-1RCV001999951; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699398320993983209GA93983209-
NM_001698.3(AUH):c.719C>T (p.Ala240Val)549AUHConflicting interpretations of pathogenicityrs769894315RCV000635279|RCV001595029; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:67046|MedGen:CN51720299398321193983211GA9:g.93983211G>AClinGen:CA5119750C0342727 250950 3-Methylglutaconic aciduria type 1;
NM_001698.3(AUH):c.714C>T (p.Phe238=)549AUHLikely benign-1RCV002122052; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699398321693983216GA93983216-
NM_001698.3(AUH):c.713T>C (p.Phe238Ser)549AUHUncertain significancers1587621572RCV000793671; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699398321793983217AG9:g.93983217A>G-
NM_001698.3(AUH):c.690G>A (p.Met230Ile)549AUHUncertain significance-1RCV002020116; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699398324093983240CT93983240-
NM_001698.3(AUH):c.679G>A (p.Ala227Thr)549AUHUncertain significancers141700491RCV001253975; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699398325193983251CT9:g.93983251C>T-
NM_001698.3(AUH):c.678C>T (p.Arg226=)549AUHConflicting interpretations of pathogenicityrs143768042RCV000123789|RCV000260083; NMedGen:CN169374|MONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699398325293983252GA9:g.93983252G>AClinGen:CA289610C0342727 250950 3-Methylglutaconic aciduria type 1;
NM_001698.3(AUH):c.676C>T (p.Arg226Cys)549AUHUncertain significancers148157596RCV000199924|RCV001853167; NMedGen:CN517202|MONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699398325493983254GA9:g.93983254G>AClinGen:CA324469CN169374 not specified;
NC_000009.11:g.93983269_93983270insC549AUHPathogenic-1RCV001982466; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699398326993983270TTC93983269-
NM_001698.3(AUH):c.657G>A (p.Gly219=)549AUHLikely benignrs141110052RCV000635282; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699398327393983273CTNC_000009.11:g.93983273C>TClinGen:CA5119762C0342727 250950 3-Methylglutaconic aciduria type 1;
NM_001698.3(AUH):c.656G>C (p.Gly219Ala)549AUHUncertain significance-1RCV001936279; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699398327493983274CG93983274-
NM_001698.3(AUH):c.656-2_656-1del549AUHLikely pathogenic-1RCV001379003; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699398327593983276CCTC93983274-
NM_001698.3(AUH):c.656-2del549AUHLikely pathogenicrs780964098RCV001205085; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699398327693983276CTC9:g.93983276_93983276del-
NM_001698.3(AUH):c.656-8C>T549AUHLikely benign-1RCV002104443; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699398328293983282GA93983282-
NM_001698.3(AUH):c.655+7G>A549AUHConflicting interpretations of pathogenicityrs748099966RCV001253999; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699405829694058296CT9:g.94058296C>T-
NM_001698.3(AUH):c.650G>A (p.Gly217Asp)549AUHPathogenicrs387906756RCV000022983; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699405830894058308CT9:g.94058308C>TOMIM:600529.0007,ClinGen:CA128916C0342727 250950 3-Methylglutaconic aciduria type 1;
NM_001698.3(AUH):c.623T>C (p.Val208Ala)549AUHUncertain significancers1050057219RCV001206274; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699405833594058335AG9:g.94058335A>G-
NM_001698.3(AUH):c.599-2A>G549AUHLikely pathogenicrs1587799880RCV000795885; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699405836194058361TC9:g.94058361T>C-
NM_001698.3(AUH):c.598+9_598+12del549AUHLikely benign-1RCV002147022; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699406025494060257GATTAG94060253-
NM_001698.3(AUH):c.598+11A>T549AUHLikely benign-1RCV002162655; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699406025594060255TA94060255-
NM_001698.3(AUH):c.598+10A>C549AUHConflicting interpretations of pathogenicityrs186203318RCV000199136|RCV000315330|RCV001253882; NMedGen:CN169374|MONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:67046|MedGen:CN51720299406025694060256TGNC_000009.11:g.94060256T>GClinGen:CA323678C0342727 250950 3-Methylglutaconic aciduria type 1;
NM_001698.3(AUH):c.589C>T (p.Arg197Ter)549AUHPathogenicrs121434636RCV000009623; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699406027594060275GA9:g.94060275G>AClinGen:CA120085,OMIM:600529.0001C0342727 250950 3-Methylglutaconic aciduria type 1;
NM_001698.3(AUH):c.584A>C (p.Asp195Ala)549AUHUncertain significancers1827482942RCV001205086; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699406028094060280TG9:g.94060280T>G-
NM_001698.3(AUH):c.578C>T (p.Ala193Val)549AUHUncertain significance-1RCV001361159; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699406028694060286GA94060286-
NM_001698.3(AUH):c.559G>A (p.Gly187Ser)549AUHPathogenicrs387906755RCV000022982|RCV000196605; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:67046|MedGen:CN51720299406030594060305CT9:g.94060305C>TClinGen:CA128913,OMIM:600529.0006C0342727 250950 3-Methylglutaconic aciduria type 1;
NM_001698.3(AUH):c.556G>T (p.Gly186Cys)549AUHLikely pathogenic-1RCV001806387; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699406030894060308CA94060308-
NM_001698.3(AUH):c.547G>A (p.Ala183Thr)549AUHUncertain significance-1RCV001931283; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699406031794060317CT94060317-
NM_001698.3(AUH):c.506-9C>T549AUHLikely benign-1RCV002175522; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699406036794060367GA94060367-
NM_001698.3(AUH):c.505+1G>C549AUHPathogenic-1RCV001806388; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699408759994087599CG94087599-
NM_001698.3(AUH):c.499G>A (p.Asp167Asn)549AUHUncertain significance-1RCV002036992; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699408760694087606CT94087606-
NM_001698.3(AUH):c.483A>C (p.Ile161=)549AUHBenignrs7874056RCV000116490|RCV000369919|RCV000676895; NMedGen:CN169374|MONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:67046|MedGen:CN51720299408762294087622TG9:g.94087622T>GClinGen:CA152025C0342727 250950 3-Methylglutaconic aciduria type 1;
NM_001698.3(AUH):c.476C>G (p.Ser159Cys)549AUHUncertain significance-1RCV002010717; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699408762994087629GC94087629-
NM_001698.3(AUH):c.464G>C (p.Gly155Ala)549AUHUncertain significancers377491933RCV001218264; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699408764194087641CG9:g.94087641C>G-
NM_001698.3(AUH):c.434A>C (p.Glu145Ala)549AUHUncertain significance-1RCV002044998; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699408767194087671TG94087671-
NM_001698.3(AUH):c.430A>G (p.Lys144Glu)549AUHUncertain significance-1RCV001998816; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699408767594087675TC94087675-
NM_001698.3(AUH):c.419G>A (p.Gly140Asp)549AUHUncertain significancers1829899485RCV001250056; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699408768694087686CT9:g.94087686C>T-
NM_001698.3(AUH):c.385A>T (p.Ile129Phe)549AUHUncertain significancers1423043030RCV001059798; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699411819894118198TA9:g.94118198T>A-
NM_001698.3(AUH):c.385A>G (p.Ile129Val)549AUHUncertain significance-1RCV001983770; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699411819894118198TC94118198-
NM_001698.3(AUH):c.381A>G (p.Ile127Met)549AUHConflicting interpretations of pathogenicityrs146227896RCV000275240|RCV000487826; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:67046|MedGen:CN51720299411820294118202TCNC_000009.11:g.94118202T>CClinGen:CA324949C0342727 250950 3-Methylglutaconic aciduria type 1;
NM_001698.3(AUH):c.374G>A (p.Arg125Gln)549AUHUncertain significancers137939308RCV000198506|RCV001057290; NMedGen:CN517202|MONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699411820994118209CT9:g.94118209C>TClinGen:CA323016CN169374 not specified;
NM_001698.3(AUH):c.373C>T (p.Arg125Trp)549AUHLikely pathogenicrs200030276RCV000190355; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699411821094118210GA9:g.94118210G>AClinGen:CA204371C0342727 250950 3-Methylglutaconic aciduria type 1;
NM_001698.3(AUH):c.350C>T (p.Ala117Val)549AUHUncertain significance-1RCV002000433; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699411823394118233GA94118233-
NM_001698.3(AUH):c.331-6G>A549AUHBenignrs10991898RCV000253918|RCV000330450|RCV000676896; NMedGen:CN169374|MONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:67046|MedGen:CN51720299411825894118258CTNC_000009.11:g.94118258C>TClinGen:CA5119875C0342727 250950 3-Methylglutaconic aciduria type 1;
NM_001698.3(AUH):c.331-8C>T549AUHLikely benign-1RCV001425026; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699411826094118260GA94118260-
NM_001698.3(AUH):c.330+13A>T549AUHLikely benign-1RCV002110562; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699411835794118357TA94118357-
NM_001698.3(AUH):c.330+9A>G549AUHLikely benign-1RCV002165475; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699411836194118361TC94118361-
NM_001698.3(AUH):c.330+1G>A549AUHPathogenic-1RCV001808836; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699411836994118369CT94118369-
NM_001698.3(AUH):c.323T>C (p.Ile108Thr)549AUHUncertain significance-1RCV001373924; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699411837794118377AG94118377-
NM_001698.3(AUH):c.305C>T (p.Ser102Leu)549AUHUncertain significance-1RCV001997027; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699411839594118395GA94118395-
NM_001698.3(AUH):c.304T>A (p.Ser102Thr)549AUHUncertain significancers1554721818RCV000635281; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699411839694118396AT9:g.94118396A>TClinGen:CA373836076C0342727 250950 3-Methylglutaconic aciduria type 1;
NM_001698.3(AUH):c.268_282del (p.Val90_Ile94del)549AUHUncertain significance-1RCV001888634; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699411841894118432TTATTCCAAGCACCACT94118417-
NM_001698.3(AUH):c.263-2A>G549AUHPathogenicrs730880311RCV000009626; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699411843994118439TC9:g.94118439T>CClinGen:CA120089,OMIM:600529.0004C0342727 250950 3-Methylglutaconic aciduria type 1;
NM_001698.3(AUH):c.263-5_263-2del549AUHConflicting interpretations of pathogenicityrs752149463RCV000842706|RCV001858443; NMedGen:CN517202|MONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699411843994118442CTAGTC9:g.94118439_94118442del-
NM_001698.3(AUH):c.263-11C>T549AUHLikely benignrs759369259RCV000426635|RCV002059593; NMedGen:CN169374|MONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699411844894118448GA9:g.94118448G>AClinGen:CA5119909CN169374 not specified;
NM_001698.3(AUH):c.263-15T>C549AUHLikely benign-1RCV002220787; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699411845294118452AG94118452-
NM_001698.3(AUH):c.262+14G>A549AUHLikely benignrs200386272RCV001698194|RCV002059956; NMedGen:CN517202|MONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699412389694123896CT9:g.94123896C>TClinGen:CA5119923CN169374 not specified;
NM_001698.3(AUH):c.261A>T (p.Arg87=)549AUHUncertain significance-1RCV001940104; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699412391194123911TA94123911-
NM_001698.3(AUH):c.243C>G (p.His81Gln)549AUHUncertain significance-1RCV002042864; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699412392994123929GC94123929-
NM_001698.3(AUH):c.222G>A (p.Glu74=)549AUHLikely benignrs1587943178RCV000928913|RCV002068667; NMedGen:CN517202|MONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699412395094123950CT9:g.94123950C>T-
NM_001698.3(AUH):c.211A>C (p.Met71Leu)549AUHUncertain significancers756127206RCV000660479; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699412396194123961TGNC_000009.11:g.94123961T>G-C0342727 250950 3-Methylglutaconic aciduria type 1;
NM_001698.3(AUH):c.198C>T (p.Gly66=)549AUHLikely benignrs1268067238RCV000929810; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699412397494123974GA9:g.94123974G>A-
NM_001698.3(AUH):c.197del (p.Gly66fs)549AUHPathogenicrs1219516037RCV001054138; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699412397594123975GCG9:g.94123975_94123975del-
NM_001698.3(AUH):c.197G>T (p.Gly66Val)549AUHUncertain significance-1RCV001369799; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699412397594123975CA94123975-
NM_001698.3(AUH):c.182C>A (p.Pro61His)549AUHBenign/Likely benignrs181327211RCV000198070|RCV000384928|RCV000442868; NMedGen:CN169374|MONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:67046|MedGen:CN51720299412399094123990GT9:g.94123990G>TClinGen:CA322544C0342727 250950 3-Methylglutaconic aciduria type 1;
NM_001698.3(AUH):c.158G>T (p.Gly53Val)549AUHUncertain significance-1RCV002047288; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699412401494124014CA94124014-
NM_001698.3(AUH):c.140C>T (p.Pro47Leu)549AUHConflicting interpretations of pathogenicity-1RCV001588326|RCV002070456; NMedGen:CN517202|MONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699412403294124032GA94124032-
NM_001698.3(AUH):c.135G>A (p.Ala45=)549AUHBenign/Likely benignrs774989333RCV000420342|RCV000908298|RCV001514119; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699412403794124037CT9:g.94124037C>TClinGen:CA5119954CN169374 not specified;
NM_001698.3(AUH):c.117G>C (p.Ser39=)549AUHLikely benignrs759828827RCV000939913; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699412405594124055CG9:g.94124055C>G-
NM_001698.3(AUH):c.84G>T (p.Ala28=)549AUHUncertain significancers1057515676RCV000271586; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699412408894124088CANC_000009.11:g.94124088C>AClinGen:CA10627635C0342727 250950 3-Methylglutaconic aciduria type 1;
NM_001698.3(AUH):c.80del (p.Ser27fs)549AUHPathogenicrs730880310RCV000009625; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699412409294124092ACANC_000009.11:g.94124092delClinGen:CA212913,OMIM:600529.0003C0342727 250950 3-Methylglutaconic aciduria type 1;
NM_001698.3(AUH):c.77G>A (p.Cys26Tyr)549AUHBenignrs74484860RCV000123791|RCV000326682|RCV000676897; NMedGen:CN169374|MONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:67046|MedGen:CN51720299412409594124095CT9:g.94124095C>TClinGen:CA289616C0342727 250950 3-Methylglutaconic aciduria type 1;
NM_001698.3(AUH):c.56G>T (p.Gly19Val)549AUHUncertain significance-1RCV001931139; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699412411694124116CA94124116-
NM_001698.3(AUH):c.44T>A (p.Leu15Gln)549AUHUncertain significancers757419657RCV000660370; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699412412894124128AT9:g.94124128A>T-C0342727 250950 3-Methylglutaconic aciduria type 1;
NM_001698.3(AUH):c.40T>C (p.Ser14Pro)549AUHUncertain significancers1482564472RCV001232244; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699412413294124132AG9:g.94124132A>G-
NM_001698.3(AUH):c.25C>G (p.Pro9Ala)549AUHUncertain significance-1RCV002027436; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699412414794124147GC94124147-
NM_001698.3(AUH):c.20C>T (p.Ala7Val)549AUHConflicting interpretations of pathogenicityrs863223911RCV000197239|RCV000432743|RCV001350300; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699412415294124152GANC_000009.11:g.94124152G>AClinGen:CA321679CN517202 not provided;
NM_001698.2(AUH):c.-30C>G549AUHUncertain significancers1057515677RCV000381331; NMONDO:MONDO:0009610,MedGen:C0342727,OMIM:250950, Orphanet:6704699412420194124201GCNC_000009.11:g.94124201G>CClinGen:CA10634075C0342727 250950 3-Methylglutaconic aciduria type 1;
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000148090 MSeqDR Search EnsemblAUH10125AU RNA binding protein/enoyl-CoA hydratase [Source:HGNC Symbol;Acc:890]00495

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