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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Lipid Metabolism, Inborn Errors (D008052)
Parent Node: Mitochondrial Diseases (D028361)
Parent Node: Muscular Diseases (D009135)
..Starting node ..VLCAD deficiency (C536353)
Child Nodes:
Sister Nodes:
..Alpha-B Crystallinopathy (C563848)
..Anal Sphincter Myopathy, Internal (C566287)
..Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy (C565945)
..Arthrogryposis (D001176) 55
..Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia (C537974)
..Carnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)
..Compartment Syndromes (D003161) 3
..Contracture (D003286) 41
..Craniomandibular Disorders (D017271) 4
..Dimauro disease (C536176)
..Encephalopathy, Axonal, with Necrotizing Myopathy, Cardiomyopathy, and Cataracts (C565596)
..Eosinophilia-Myalgia Syndrome (D016603)
..Epiphyseal Dysplasia, Multiple, with Myopathy (C563420)
..Erythrocyte Amp Deaminase Deficiency (C567878)
..Erythrocyte Lactate Transporter Defect (C565449)
..Fatigue Syndrome, Chronic (D015673)
..Fibromyalgia (D005356)
..Fingerprint Body Myopathy (C564425)
..Hereditary Myopathy with Early Respiratory Failure (C566343)
..Hypertrophia Musculorum Vera (C564152)
..Isaacs Syndrome (D020386)
..Kocher-Debre-Semelaigne syndrome (C537211)
..Marinesco-Sjogren-like syndrome (MSLS) (C535913)
..Medial Tibial Stress Syndrome (D058923)
..Mesoectodermal dysplasia (C538472)
..Mitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..Mitochondrial Myopathies (D017240) 33
..Muscle Cramp (D009120) 3
..Muscle Neoplasms (D019042)
..Muscle Rigidity (D009127) 3
..Muscle Spasticity (D009128) 17
..Muscle Weakness (D018908) 5
..Muscular Disorders, Atrophic (D020966) 120
..Muscular Hypoplasia, Congenital Universal, of Krabbe (C563553)
..Musculoskeletal Pain (D059352) 2
..Myalgia (D063806)
..Myofascial Pain Syndromes (D009209) 1
..Myopathic carnitine deficiency (C536100)
..Myopathies, Structural, Congenital (D020914) 34
..Myopathy due to Malate-Aspartate Shuttle Defect (C564973)
..Myopathy with Giant Abnormal Mitochondria (C564971)
..Myopathy with Lactic Acidosis, Hereditary (C564972)
..Myopathy, Cataract, Hypogonadism Syndrome (C563578)
..Myopathy, congenital nonprogressive with Moebius and Robin sequences (C536102)
..Myopathy, Congenital, With Excess Of Muscle Spindles (C566896)
..Myopathy, Early-Onset, with Fatal Cardiomyopathy (C567129)
..Myopathy, Granulovacuolar Lobular, with Electrical Myotonia (C564974)
..Myopathy, Hyaline Body, Autosomal Recessive (C564970)
..MYOPATHY, MYOFIBRILLAR, 1 (OMIM:601419)
..MYOPATHY, MYOFIBRILLAR, 4 (OMIM:609452)
..MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
..Myopathy, Myosin Storage (C564253)
..Myopathy, Reducing Body, X-Linked, Childhood-Onset (C567468)
..Myopathy, Reducing Body, X-Linked, Early-Onset, Severe (C567469)
..Myopathy, X-Linked, with Excessive Autophagy (C564093)
..Myositis (D009220) 16
..Myostatin-related muscle hypertrophy (C536106)
..Myotonic Disorders (D020967) 10
..Neutral Lipid Storage Disease with Myopathy (C565192)
..Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)
..Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..Paralyses, Familial Periodic (D010245) 7
..Pectoralis Muscle, Absence of (C566793)
..Polymyalgia Rheumatica (D011111)
..Proximal Myopathy with Focal Depletion of Mitochondria (C563453)
..Rhabdomyolysis (D012206) 6
..Rippling muscle disease, 1 (C535686)
..Salih Myopathy (C580430)
..Secretory Diarrhea, Myopathy, and Deafness (C564382)
..Singleton Merten syndrome (C537343)
..Systemic carnitine deficiency (C536778)
..Tel Hashomer camptodactyly syndrome (C536953)
..Tendinopathy (D052256) 5
..Treft Sanborn Carey syndrome (C536544)
..Triglyceride storage disease with impaired long-chain fatty acid oxidation (C536560)
..Uruguay Faciocardiomusculoskeletal Syndrome (C564544)
..Vacuolar myopathy (C536522)
..VLCAD deficiency (C536353)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11649

Name:

VLCAD deficiency

Definition:

Alternative IDs:

OMIM:201475

ParentIDs:

MESH:D008052|MESH:D009135|MESH:D028361

TreeNumbers:

C05.651/C536353 |C10.668.491/C536353 |C16.320.565.398/C536353 |C18.452.584.562/C536353 |C18.452.648.398/C536353 |C18.452.660/C536353

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: C536353
MeSH: C536353
OMIM: 201475;

Genes: ACADVL;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003234	Decreased plasma carnitine
3	HP:0003215	Dicarboxylic aciduria
4	HP:0003236	Elevated circulating creatine kinase concentration
5	HP:0003738	Exercise-induced myalgia
6	HP:0008305	Exercise-induced myoglobinuria
7	HP:0009045	Exercise-induced rhabdomyolysis
8	HP:0001290	Generalized hypotonia
9	HP:0001397	Hepatic steatosis
10	HP:0001404	Hepatocellular necrosis
11	HP:0002240	Hepatomegaly
12	HP:0001639	Hypertrophic cardiomyopathy
13	HP:0001252	Hypotonia
14	HP:0001254	Lethargy
15	HP:0003552	Muscle stiffness
16	HP:0001324	Muscle weakness
17	HP:0001958	Nonketotic hypoglycemia
18	HP:0001645	Sudden cardiac death
19	HP:0002789	Tachypnea
20	HP:0002013	Vomiting

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000018.3(ACADVL):c.49C>T (p.Leu17Phe)	-1	-	Benign	2230179	RCV000020078;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005	17	7123352	7123352	NM_000018.3:c.49C>T	NP_000009.1:p.Leu17Phe	NC_000017.10:g.7123352C>T	-	C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.65C>A (p.Ser22Ter)	37	ACADVL	Pathogenic	727503788	RCV000175507; RCV000152732;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN221809	17	7123443	7123443	NM_000018.3:c.65C>A	NP_000009.1:p.Ser22Ter	NC_000017.10:g.7123443C>A	HGMD:CM001606	CN221809 not provided; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.68G>A (p.Arg23Gln)	37	ACADVL	Benign	34153370	RCV000020079;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005	17	7123446	7123446	NM_000018.3:c.68G>A	NP_000009.1:p.Arg23Gln	NC_000017.10:g.7123446G>A	-	C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.128G>A (p.Gly43Asp)	37	ACADVL	Benign	2230178	RCV000020071;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005	17	7123506	7123506	NM_000018.3:c.128G>A	NP_000009.1:p.Gly43Asp	NC_000017.10:g.7123506G>A	-	C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.194C>T (p.Pro65Leu)	37	ACADVL	Benign;Pathogenic	28934585	RCV000001698; RCV000020076; RCV000077913;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN169374	17	7123838	7123838	NM_000018.3:c.194C>T	NP_000009.1:p.Pro65Leu	NC_000017.10:g.7123838C>T	OMIM Allelic Variant:609575.0011	CN169374 not specified; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.194C>T (p.Pro65Leu)	37	ACADVL	Benign;Pathogenic	28934585	RCV000001698; RCV000020076; RCV000077913;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN169374	17	7123838	7123838	NM_000018.3:c.194C>T	NP_000009.1:p.Pro65Leu	NC_000017.10:g.7123838C>T	OMIM Allelic Variant:609575.0011	CN169374 not specified; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.298_299delCA (p.Gln100Valfs)	37	ACADVL	Likely pathogenic;Pathogenic	786204713	RCV000169528;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005	17	7124105	7124106	NM_000018.3:c.298_299delCA	NP_000009.1:p.Gln100Valfs	NC_000017.10:g.7124105_7124106delCA	-	C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.343delG (p.Glu115Lysfs)	37	ACADVL	Likely pathogenic;Pathogenic	387906249	RCV000001691; RCV000077915;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN221809	17	7124243	7124243	NM_000018.3:c.343delG	NP_000009.1:p.Glu115Lysfs	NC_000017.10:g.7124243delG	HGMD:CD961740,OMIM Allelic Variant:609575.0004,OMIM Allelic Variant:609575.0005	CN221809 not provided; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.388_390delGAG (p.Glu130del)	37	ACADVL	Likely pathogenic;Pathogenic	387906251	RCV000001693;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005	17	7124288	7124290	NM_000018.3:c.388_390delGAG	NP_000009.1:p.Glu130del	NC_000017.10:g.7124288_7124290delGAG	OMIM Allelic Variant:609575.0006	C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.433C>T (p.Gln145Ter)	37	ACADVL	Likely pathogenic	786204738	RCV000169585;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005	17	7124333	7124333	NM_000018.3:c.433C>T	NP_000009.1:p.Gln145Ter	NC_000017.10:g.7124333C>T	-	C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.520G>A (p.Val174Met)	37	ACADVL	Pathogenic	369560930	RCV000179696; RCV000077919;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN221809	17	7124899	7124899	NM_000018.3:c.520G>A	NP_000009.1:p.Val174Met	NC_000017.10:g.7124899G>A	HGMD:CM990084	CN221809 not provided; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.637G>A (p.Ala213Thr)	37	ACADVL	Pathogenic	140629318	RCV000180089; RCV000185713;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN221809	17	7125285	7125285	NM_000018.3:c.637G>A	NP_000009.1:p.Ala213Thr	NC_000017.10:g.7125285G>A,NC_000017.10:g.7125285G>C	-	CN221809 not provided; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.664G>A (p.Gly222Arg)	37	ACADVL	Likely pathogenic;Uncertain significance	398123091	RCV000169301; RCV000077922;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN221809	17	7125312	7125312	NM_000018.3:c.664G>A	NP_000009.1:p.Gly222Arg	NC_000017.10:g.7125312G>A	HGMD:CM101566	CN221809 not provided; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.685C>T (p.Arg229Ter)	37	ACADVL	Likely pathogenic	786204536	RCV000169238;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005	17	7125333	7125333	NM_000018.3:c.685C>T	NP_000009.1:p.Arg229Ter	NC_000017.10:g.7125333C>T	-	C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.739A>C (p.Lys247Gln)	37	ACADVL	Pathogenic	387906253	RCV000001698;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005	17	7125387	7125387	NM_000018.3:c.739A>C	NP_000009.1:p.Lys247Gln	NC_000017.10:g.7125387A>C	OMIM Allelic Variant:609575.0011	CN169374 not specified; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.753-2A>C	37	ACADVL	Pathogenic	398123092	RCV000180449; RCV000077923;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN221809	17	7125494	7125494	NM_000018.3:c.753-2A>C		NC_000017.10:g.7125494A>C	HGMD:CS991281	CN221809 not provided; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.779C>T (p.Thr260Met)	37	ACADVL	Likely pathogenic;Pathogenic	113994168	RCV000020080;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005	17	7125522	7125522	NM_000018.3:c.779C>T	NP_000009.1:p.Thr260Met	NC_000017.10:g.7125522C>T	-	C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.848T>C (p.Val283Ala)	37	ACADVL	Pathogenic	113994167	RCV000020081; RCV000077925;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN221809	17	7125591	7125591	NM_000018.3:c.848T>C	NP_000009.1:p.Val283Ala	NC_000017.10:g.7125591T>C	HGMD:CM960004	CN221809 not provided; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.887_888delCT (p.Pro296Argfs)	37	ACADVL	Likely pathogenic;Pathogenic	753108198	RCV000169392; RCV000185736;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN221809	17	7125994	7125995	NM_000018.3:c.887_888delCT	NP_000009.1:p.Pro296Argfs	NC_000017.10:g.7125994_7125995delCT	-	CN221809 not provided; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.896_898delAGA (p.Lys299del)	37	ACADVL	Likely pathogenic;Pathogenic	387906252	RCV000001694; RCV000077926;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN221809	17	7126003	7126005	NM_000018.3:c.896_898delAGA	NP_000009.1:p.Lys299del	NC_000017.10:g.7126003_7126005delAGA	HGMD:CD961742,OMIM Allelic Variant:609575.0007	CN221809 not provided; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.1038G>A (p.Ala346=)	37	ACADVL	Benign	8064573	RCV000020068; RCV000077899;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN169374	17	7126145	7126145	NM_000018.3:c.1038G>A	NP_000009.1:p.Ala346=	NC_000017.10:g.7126145G>A	-	CN169374 not specified; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.1106T>C (p.Phe369Ser)	37	ACADVL	Likely pathogenic	398123080	RCV000173951; RCV000077900;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN221809	17	7126480	7126480	NM_000018.3:c.1106T>C	NP_000009.1:p.Phe369Ser	NC_000017.10:g.7126480T>C	-	CN221809 not provided; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.1144A>C (p.Lys382Gln)	37	ACADVL	Pathogenic	118204015	RCV000001695;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005	17	7126518	7126518	NM_000018.3:c.1144A>C	NP_000009.1:p.Lys382Gln	NC_000017.10:g.7126518A>C	OMIM Allelic Variant:609575.0008	C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_001033859.1(ACADVL):c.1116+1G>A	37	ACADVL	Likely pathogenic;Pathogenic	113690956	RCV000001689; RCV000210824;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN221809	17	7126557	7126557	NM_001033859.1:c.1116+1G>A			OMIM Allelic Variant:609575.0002	CN221809 not provided; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.1226C>T (p.Thr409Met)	37	ACADVL	Pathogenic;Uncertain significance	113994169	RCV000020069; RCV000185722;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN169374	17	7127006	7127006	NM_000018.3:c.1226C>T	NP_000009.1:p.Thr409Met	NC_000017.10:g.7127006C>T	-	CN169374 not specified; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.1246G>A (p.Ala416Thr)	37	ACADVL	Pathogenic	118204018	RCV000001700;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005	17	7127026	7127026	NM_000018.3:c.1246G>A	NP_000009.1:p.Ala416Thr	NC_000017.10:g.7127026G>A	OMIM Allelic Variant:609575.0013	C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.1284G>A (p.Lys428=)	37	ACADVL	Benign	35501596	RCV000020070;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005	17	7127146	7127146	NM_000018.3:c.1284G>A	NP_000009.1:p.Lys428=	NC_000017.10:g.7127146G>A	-	C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.1322G>A (p.Gly441Asp)	37	ACADVL	Pathogenic	2309689	RCV000020072; RCV000077903;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN221809	17	7127184	7127184	NM_000018.3:c.1322G>A	NP_000009.1:p.Gly441Asp	NC_000017.10:g.7127184G>A	HGMD:CM960010,OMIM Allelic Variant:609575.0009	CN221809 not provided; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.1349G>A (p.Arg450His)	37	ACADVL	Likely pathogenic;Pathogenic	118204016	RCV000001701;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005	17	7127303	7127303	NM_000018.3:c.1349G>A	NP_000009.1:p.Arg450His	NC_000017.10:g.7127303G>A	OMIM Allelic Variant:609575.0010,OMIM Allelic Variant:609575.0014	C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.1357C>T (p.Arg453Ter)	37	ACADVL	Pathogenic	794727113	RCV000174654;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005	17	7127311	7127311	NM_000018.3:c.1357C>T	NP_000009.1:p.Arg453Ter	NC_000017.10:g.7127311C>T	-	C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.1372T>C (p.Phe458Leu)	37	ACADVL	Pathogenic	118204017	RCV000001699;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005	17	7127326	7127326	NM_000018.3:c.1372T>C	NP_000009.1:p.Phe458Leu	NC_000017.10:g.7127326T>C	OMIM Allelic Variant:609575.0012	C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.1389dupG (p.Thr464Aspfs)	37	ACADVL	Pathogenic	398123082	RCV000174651; RCV000077905;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN221809	17	7127343	7127343	NM_000018.3:c.1389dupG	NP_000009.1:p.Thr464Aspfs	NC_000017.10:g.7127343dupG	-	CN221809 not provided; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.1405C>T (p.Arg469Trp)	37	ACADVL	Likely pathogenic;Pathogenic	113994170	RCV000020073;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005	17	7127359	7127359	NM_000018.3:c.1405C>T	NP_000009.1:p.Arg469Trp	NC_000017.10:g.7127359C>T	-	C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.1406G>A (p.Arg469Gln)	37	ACADVL	Likely pathogenic;Pathogenic	398123083	RCV000169627; RCV000077906;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN221809	17	7127360	7127360	NM_000018.3:c.1406G>A	NP_000009.1:p.Arg469Gln	NC_000017.10:g.7127360G>A	HGMD:CM990103	CN221809 not provided; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.1434+14T>A	37	ACADVL	Uncertain significance	202217537	RCV000174650;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005	17	7127402	7127402	NM_000018.3:c.1434+14T>A		NC_000017.10:g.7127402T>A	-	C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.1532+1G>A	37	ACADVL	Pathogenic	727503794	RCV000152740;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005	17	7127563	7127563	NM_000018.3:c.1532+1G>A		NC_000017.10:g.7127563G>A	-	C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.1600G>A (p.Glu534Lys)	37	ACADVL	Benign;Uncertain significance	2230180	RCV000020074; RCV000077907;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN169374	17	7127707	7127707	NM_000018.3:c.1600G>A	NP_000009.1:p.Glu534Lys	NC_000017.10:g.7127707G>A	HGMD:CM990107	CN169374 not specified; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.1605+6T>C	37	ACADVL	Benign	17671352	RCV000169539; RCV000077908;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN169374	17	7127718	7127718	NM_000018.3:c.1605+6T>C		NC_000017.10:g.7127718T>C	-	CN169374 not specified; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.1679-6G>A	37	ACADVL	Likely pathogenic;Pathogenic	113994171	RCV000031857; RCV000185730;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN221809	17	7127955	7127955	NM_000018.3:c.1679-6G>A		NC_000017.10:g.7127955G>A	-	CN221809 not provided; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_001270447.1(ACADVL):c.1768C>T (p.Arg590Trp)	37	ACADVL	Uncertain significance	864321651	RCV000203523;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005	17	7127981	7127981	NM_001270447.1:c.1768C>T	NP_001257376.1:p.Arg590Trp	NC_000017.10:g.7127981C>T	-	C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.1837C>T (p.Arg613Trp)	37	ACADVL	Likely pathogenic;Pathogenic	118204014	RCV000001690; RCV000185733;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN221809	17	7128285	7128285	NM_000018.3:c.1837C>T	NP_000009.1:p.Arg613Trp	NC_000017.10:g.7128285C>T	OMIM Allelic Variant:609575.0003	CN221809 not provided; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.1844G>A (p.Arg615Gln)	37	ACADVL	Likely pathogenic;Pathogenic;Uncertain significance	148584617	RCV000193309; RCV000176020;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN221809	17	7128292	7128292	NM_000018.3:c.1844G>A	NP_000009.1:p.Arg615Gln	NC_000017.10:g.7128292G>A	-	CN221809 not provided; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.1965C>T (p.Phe655=)	37	ACADVL	Benign	9674	RCV000020077;	N	MedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005	17	7128413	7128413	NM_000018.3:c.1965C>T	NP_000009.1:p.Phe655=	NC_000017.10:g.7128413C>T	-	C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency