ACADVL

Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency

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Introduction

The ACADVL gene, which stands for acyl-CoA dehydrogenase very long chain, is located on chromosome 17p13.1. It has 20 exons spanning ~5.4kb and encodes a 656 amino acid protein (Very Long-Chain Acyl-CoA Dehydrogenase or VLCAD). VLCAD is targeted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway (1) breaking down fatty acids into acetyl-CoA and allowing the production of energy from fats (2). This acyl-Coenzyme A dehydrogenase is specific to long-chain and very-long-chain fatty acids (1). Among the different mitochondrial acyl-CoA dehydrogenases, VLCAD acts specifically on acyl-CoAs with saturated 12 to 24 carbons long primary chains (2).

Predominantly expressed in heart and skeletal muscle also detected in kidney and liver, a deficiency in this gene product reduces myocardial fatty acid beta-oxidation and is associated with cardiomyopathy. The enzyme was found to catalyze the major part of mitochondrial palmitoyl-CoA dehydrogenation in liver, heart, skeletal muscle, and skin fibroblasts (3).

More than 450 unique disease-causing variants in the ACADVL gene have been identified in VLCAD patients and are represented in this database (4). The variants occur across the entire length of the gene and include frameshift, splice site, copy-number, nonsense and missense variants.

Variant List

To see more information, click on the Variant in the table. Hover on the Variant in the table to see its location on the gene. For more information on table headers, HGVS nomenclature, and ACMG classification please use the following links here.

Gene Structure

Variant ID	Variant	Amino Acid Change	Gene Symbol	Variant Type	Effect Type	Display ACMG Call	Disease Subtype	Times Observed	Phenotype	PMID	Location	Present in ClinVar

ACADVL_0003	c.?	p.Trp249Arg	ACADVL			Uncertain Significance	VLCAD	<5		35400565		Unknown
ACADVL_0002	c.?	p.Met478Ile	ACADVL			Uncertain Significance	VLCAD	<5		35400565		Unknown
ACADVL_0014	c.?	p.Cys607Ser	ACADVL			Likely Pathogenic	VLCAD	11-20		31844625, 35400565		Unknown
ACADVL_0018	c.?	p.Gly289Arg	ACADVL			Pathogenic	VLCAD	<5		20547398, 31844625, 35400565		Unknown
ACADVL_0024	c.?	p.Phe112Leu	ACADVL			Likely Pathogenic	VLCAD	<5		31844625, 35400565		Unknown
ACADVL_0022	c.?	p.Phe113*	ACADVL			Pathogenic	VLCAD	<5	Abnormality of metabolism/homeostasis, Elevated circulating creatine kinase conc....	29552494, 31372341, 31844625		Unknown
ACADVL_0489	c.-144_-132delinsT	Intronic	ACADVL			Uncertain Significance	VLCAD	<5		30194637		No
ACADVL_0017	c.?	p.Pro89Hisfs*28	ACADVL			Pathogenic	VLCAD	<5		26453363		Unknown
ACADVL_0016	c.-154-?_*170+?del	Deletion (Entire coding sequence)	ACADVL			Pathogenic	VLCAD	<5				Unknown
ACADVL_0019	c.?	p.Gly222Arg	ACADVL			Pathogenic	VLCAD	<5		31844625		Unknown
ACADVL_0015	c.?	p.Gly447Arg	ACADVL			Likely Pathogenic	VLCAD	<5		31844625, 35400565		Unknown
ACADVL_0013	c.?	p.Gly481Asp	ACADVL			Likely Pathogenic	VLCAD	<5		16950999		Unknown
ACADVL_0008	c.?	p.Ala536Tyrfs*15	ACADVL			Pathogenic	VLCAD	<5		25737446, 31844625		Unknown
ACADVL_0011	c.?	p.Gly354Lys	ACADVL			Uncertain Significance	VLCAD	<5	Abnormality of metabolism/homeostasis, Elevated circulating creatine kinase concentration, Hypoglycemia, Liver abnormality, Myoglobinuria	11596652		Unknown
ACADVL_0025	c.37C>T	p.Gln13*	ACADVL	SNV	Nonsense	Pathogenic	VLCAD	<5		17999356, 20060901	Exon 1	Yes
ACADVL_0026	c.38_49del	p.Gln13_Arg16del	ACADVL	Deletion	Deletion	Likely Pathogenic	VLCAD	<5		30194637	Exon 1	No
ACADVL_0007	c.49C>T	p.Leu17Phe	ACADVL	SNV	Missense	Conflict	VLCAD	<5		30445591	Exon 1	Yes
ACADVL_0451	c.62G>A	p.Ser21Asn	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5	Elevated circulating creatine kinase concentration, Hypoglycemia, Liver abnormality, Myopathy		Exon 1	Yes
ACADVL_0027	c.63-2A>C	Intronic	ACADVL	SNV	Splice acceptor	Pathogenic	VLCAD	<5		27209629	Intron 1	Yes
ACADVL_0028	c.65C>A	p.Ser22*	ACADVL	SNV	Nonsense	Pathogenic	VLCAD	30+	Cardiomyopathy, Diminished reflexes, Elevated circulating creatine kinase concentration, Hypoactivity, Hypoglycemia, Rhabdomyolysis	10790204, 24801231, 27629047, 28980192, 29789446, 32518924, 33549744	Exon 2	Yes
ACADVL_0029	c.104del	p.Pro35Leufs*26	ACADVL	Deletion	Frameshift	Pathogenic	VLCAD	21-30	Abnormality of metabolism/homeostasis, Arrhythmia, Cardiac-other, Cardiomyopathy....	17999356, 20547398, 21333574, 24305961, 25834949, 26881790, 27518779, 32061778, 32276429, 32463482	Exon 2	Yes
ACADVL_0030	c.103_112dup	p.Arg38Profs*24	ACADVL	Duplication	Frameshift	Pathogenic	VLCAD	<5	Cardiac-other, Cardiomyopathy, Elevated circulating creatine kinase concentratio....	29519241, 29768383	Exon 2	Yes
ACADVL_0031	c.128G>A	p.Gly43Asp	ACADVL	SNV	Missense	Conflict	VLCAD	11-20		20952238, 30445591, 9973285	Exon 2	Yes
ACADVL_0032	c.138+2T>C	Intronic	ACADVL	SNV	Splice donor	Pathogenic	VLCAD	<5		35281663	Intron 2	Yes
ACADVL_0033	c.190A>T	p.Lys64*	ACADVL	SNV	Nonsense	Pathogenic	VLCAD	<5			Exon 3	Yes
ACADVL_0034	c.192del	p.Lys64Asnfs*53	ACADVL	Deletion	Frameshift	Pathogenic	VLCAD	<5			Exon 3	Yes
ACADVL_0035	c.194C>T	p.Pro65Leu	ACADVL	SNV	Missense	Conflict	VLCAD	5-10	Developmental delay, Gastric reflux, History of lactic acidosis, Hypoglycemia, Hypotonia, Muscle weakness, Seizure	10790204, 14517516, 17999356, 21795085, 22494076, 27209629	Exon 3	Yes
ACADVL_0036	c.199A>T	p.Lys67*	ACADVL	SNV	Nonsense	Pathogenic	VLCAD	<5		30194637, 35281663	Exon 3	Yes
ACADVL_0037	c.204+4G>C	Intronic	ACADVL	SNV	Splice region	Uncertain Significance	VLCAD	<5			Intron 3	Yes
ACADVL_0038	c.205-8_205-7delinsGC	Intronic	ACADVL	Delins	Splice region	Likely Pathogenic	VLCAD	<5	Leukocytopenia, Thrombocytopenia	29111448, 30194637, 33986768	Intron 3	Yes
ACADVL_0490	c.205-2A>G	Intronic	ACADVL	SNV	Splice acceptor	Likely Pathogenic	VLCAD	<5			Intron 3	Yes
ACADVL_0039	c.215C>T	p.Ser72Phe	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5	Developmental delay, Diarrhea, Hypoglycemia, Liver abnormality	24801231	Exon 4	Yes
ACADVL_0040	c.227G>A	p.Gly76Glu	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	5-10		16860141, 16950999, 30194637	Exon 4	Yes
ACADVL_0453	c.234C>G	p.Phe78Leu	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5			Exon 4	Yes
ACADVL_0041	c.239G>A	p.Gly80Asp	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		30194637	Exon 4	Yes
ACADVL_0042	c.253dup	p.Asp85Glyfs*19	ACADVL	Duplication	Frameshift	Pathogenic	VLCAD	<5	Cardiac arrest, Concurrent feeding difficulties, Hypothermia	27209629, 31358473	Exon 4	Yes
ACADVL_0454	c.257A>G	p.Gln86Arg	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5			Exon 4	Yes
ACADVL_0043	c.260T>C	p.Val87Ala	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		30194637	Exon 4	Yes
ACADVL_0044	c.265C>T	p.Pro89Ser	ACADVL	SNV	Missense	Pathogenic	VLCAD	<5	Cardiac-other, Dyspnoea, Elevated circulating creatine kinase concentration, Fev....	11131350, 11914034, 17999356, 25737446, 31844625	Exon 4	Yes
ACADVL_0045	c.266C>A	p.Pro89Gln	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		35400565	Exon 4	No
ACADVL_0046	c.272C>A	p.Pro91Gln	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5	Elevated circulating creatine kinase concentration, Hypoglycemia, Rhabdomyolysis	16435213, 17999356, 25737446, 25834949	Exon 4	Yes
ACADVL_0047	c.272C>T	p.Pro91Leu	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5	Cardiomyopathy, Elevated circulating creatine kinase concentration, Myalgia, Myoglobinuria, Nocturnal dyspnea, Vomiting	23966064, 32558070	Exon 4	Yes
ACADVL_0491	c.276C>T	p.Ser92=	ACADVL	SNV	Silent	Uncertain Significance	VLCAD	<5			Exon 4	Yes
ACADVL_0049	c.277G>A	p.Val93Met	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		32061778	Exon 4	Yes
ACADVL_0050	c.277+1G>A	Intronic	ACADVL	SNV	Splice donor	Pathogenic	VLCAD	<5		30194637	Intron 4	Yes
ACADVL_0051	c.277+2T>G	Intronic	ACADVL	SNV	Splice donor	Pathogenic	VLCAD	<5	Arrhythmia, Decreased feeding, Dehydration, Elevated circulating creatine kinase....	22847164, 34943631	Intron 4	Yes
ACADVL_0052	c.278-31_278-18del	Intronic	ACADVL	Deletion	Intronic	Uncertain Significance	VLCAD	<5		31737040	Intron 4	Yes
ACADVL_0053	c.278-1G>A	Intronic	ACADVL	SNV	Splice acceptor	Likely Pathogenic	VLCAD	<5			Intron 4	Yes
ACADVL_0054	c.294_297del	p.Gln98Hisfs*18	ACADVL	Deletion	Frameshift	Pathogenic	VLCAD	<5	Cardiomyopathy, Hypoglycemia, Hypothermia, Poor feeding, Pulmonary/respiratory, Rhabdomyolysis	27209629	Exon 5	Yes
ACADVL_0055	c.298C>T	p.Gln100*	ACADVL	SNV	Nonsense	Pathogenic	VLCAD	<5	Abnormality of metabolism/homeostasis, Elevated circulating creatine kinase concentration, Hypoglycemia, Respiratory tract infection	24801231	Exon 5	Yes
ACADVL_0056	c.298_299del	p.Gln100Valfs*3	ACADVL	Deletion	Frameshift	Pathogenic	VLCAD	<5	Abnormality of metabolism/homeostasis, Cardiomyopathy, Coma, Cyanosis, Elevated ....	24801231, 31794763, 33514801	Exon 5	Yes
ACADVL_0057	c.305T>C	p.Leu102Pro	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5		35400565	Exon 5	No
ACADVL_0058	c.307A>T	p.Lys103*	ACADVL	SNV	Nonsense	Pathogenic	VLCAD	<5		35400565	Exon 5	No
ACADVL_0059	c.317_1752-46del	Partial Deletion (Exons 5-18)	ACADVL	Copy Number Loss	Deletion	Pathogenic	VLCAD	<5			Exon 5-18,20, Intron 5-18, 20	No
ACADVL_0060	c.307_323dup	p.Val109Lysfs*14	ACADVL	Duplication	Frameshift	Pathogenic	VLCAD	<5			Exon 5	Yes
ACADVL_0061	c.329C>T	p.Ser110Phe	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5		35400565	Exon 5	Yes
ACADVL_0062	c.329C>A	p.Ser110Tyr	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5	Muscle weakness, Myalgia	30094188	Exon 5	Yes
ACADVL_0063	c.331C>T	p.Arg111Cys	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5		30194637	Exon 5	Yes
ACADVL_0064	c.332G>A	p.Arg111His	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5			Exon 5	Yes
ACADVL_0065	c.335del	p.Phe112Serfs*5	ACADVL	Deletion	Frameshift	Pathogenic	VLCAD	<5		35281659	Exon 5	Yes
ACADVL_0066	c.339C>A	p.Phe113Leu	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		21932095, 30194637	Exon 5	Yes
ACADVL_0067	c.342+1G>C	Intronic	ACADVL	SNV	Splice donor	Pathogenic	VLCAD	<5		20060901	Intron 5	Yes
ACADVL_0455	c.343-3C>G	Intronic	ACADVL	SNV	Splice region	Uncertain Significance	VLCAD	<5			Intron 5	No
ACADVL_0069	c.343-1del	Intronic	ACADVL	Deletion	Splice acceptor	Likely Pathogenic	VLCAD	<5	Cardiac-other, Cardiomyopathy, Coma, Diarrhea, Fever, Hypoglycemia, Hypotension,....	10077518, 4022672, 7479827, 7769092, 8554073	Intron 5	Yes
ACADVL_0068	c.343-1G>A	Intronic	ACADVL	SNV	Splice acceptor	Pathogenic	VLCAD	<5		31983732	Intron 5	Yes
ACADVL_0070	c.343del	p.Glu115Lysfs*2	ACADVL	Deletion	Frameshift	Pathogenic	VLCAD	11-20	Cardiac-other, Cardiomyopathy, Elevated circulating creatine kinase concentratio....	23867825, 27246109, 28871440, 30194637, 31031081, 32928639, 34194748, 35281659	Exon 6	Yes
ACADVL_0071	c.364A>G	p.Asn122Asp	ACADVL	SNV	Missense	Pathogenic	VLCAD	5-10	Neurological distress	16115821, 17999356, 20060901, 25737446, 27943070, 34638902	Exon 6	Yes
ACADVL_0456	c.378G>T	p.Glu126Asp	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5			Exon 6	Yes
ACADVL_0072	c.388_390del	p.Glu130del	ACADVL	Deletion	Deletion	Pathogenic	VLCAD	11-20	Arrhythmia, Cardiomyopathy, Decreased feeding, Dehydration, Diarrhea, Diminished....	10077518, 10431122, 22847164, 27209629, 30194637, 8554073	Exon 6	Yes
ACADVL_0073	c.388_391del	p.Glu130Profs*86	ACADVL	Deletion	Frameshift	Pathogenic	VLCAD	<5		17999356, 20060901	Exon 6	No
ACADVL_0074	c.407T>C	p.Leu136Pro	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5		30194637	Exon 6	No
ACADVL_0075	c.416T>C	p.Leu139Pro	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5		33986768	Exon 6	No
ACADVL_0076	c.419G>A	p.Gly140Glu	ACADVL	SNV	Missense	Pathogenic	VLCAD	<5	Malaise/fatigue, Myalgia	15210884, 35400565	Exon 6	Yes
ACADVL_0077	c.425T>C	p.Phe142Ser	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	5-10	Dysmorphic features, Global developmental delay, Hypotonia	27629047, 28980192	Exon 6	Yes
ACADVL_0078	c.427G>A	p.Gly143Ser	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5	Elevated circulating creatine kinase concentration		Exon 6	Yes
ACADVL_0079	c.428G>A	p.Gly143Asp	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5			Exon 6	Yes
ACADVL_0080	c.428_467del	p.Gly143Alafs*61	ACADVL	Deletion	Frameshift	Pathogenic	VLCAD	<5		26404456, 33549744	Exon 6	Yes
ACADVL_0081	c.430C>G	p.Leu144Val	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		30194637	Exon 6	Yes
ACADVL_0082	c.434A>C	p.Gln145Pro	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5			Exon 6	Yes
ACADVL_0083	c.439C>T	p.Pro147Ser	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5	Elevated circulating creatine kinase concentration, Liver abnormality	27209629	Exon 6	Yes
ACADVL_0084	c.442A>G	p.Ser148Gly	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		17999356	Exon 6	No
ACADVL_0085	c.454G>A	p.Gly152Ser	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	5-10		22841441, 31844625, 35400565	Exon 6	No
ACADVL_0086	c.455G>A	p.Gly152Asp	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5	Elevated circulating creatine kinase concentration, Exercise intolerance, Myalgia, Myoglobinuria	19327992	Exon 6	Yes
ACADVL_0087	c.469A>G	p.Asn157Asp	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5	Cardiac arrest, Concurrent feeding difficulties, Hypothermia	31358473	Exon 6	No
ACADVL_0088	c.476A>G	p.Gln159Arg	ACADVL	SNV	Missense	Pathogenic	VLCAD	<5		16950999, 25456746, 27246109	Exon 6	Yes
ACADVL_0089	c.481G>A	p.Ala161Thr	ACADVL	SNV	Missense	Pathogenic	VLCAD	5-10		16488171, 16950999, 27246109, 33123633	Exon 7	Yes
ACADVL_0090	c.485G>A	p.Arg162His	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5		23480858	Exon 7	Yes
ACADVL_0091	c.488T>A	p.Leu163*	ACADVL	SNV	Nonsense	Pathogenic	VLCAD	<5		31893530	Exon 7	No
ACADVL_0092	c.491T>G	p.Val164Gly	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	5-10	Elevated circulating creatine kinase concentration, Malaise/fatigue, Muscle spasm, Myalgia, Myoglobinuria, Urine discoloration	23169530, 272487	Exon 7	Yes
ACADVL_0093	c.494A>T	p.Glu165Val	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5		30194637	Exon 7	Yes
ACADVL_0094	c.495G>T	p.Glu165Asp	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5		33123633	Exon 7	Yes
ACADVL_0095	c.497_498del	p.Ile166Serfs*5	ACADVL	Deletion	Frameshift	Pathogenic	VLCAD	<5	Elevated circulating creatine kinase concentration		Exon 7	Yes
ACADVL_0457	c.503G>A	p.Gly168Asp	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5			Exon 7	Yes
ACADVL_0458	c.505A>G	p.Met169Val	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5			Exon 7	Yes
ACADVL_0096	c.506T>C	p.Met169Thr	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5		33996489	Exon 7	Yes
ACADVL_0097	c.507_527del	p.Met169_Gly175del	ACADVL	Deletion	Deletion	Uncertain Significance	VLCAD	<5	Fever, Jaundice	31031081	Exon 7	Yes
ACADVL_0098	c.513C>G	p.Asp171Glu	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5		30194637	Exon 7	Yes
ACADVL_0099	c.514C>G	p.Leu172Val	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		31844625, 35400565	Exon 7	No
ACADVL_0100	c.515T>C	p.Leu172Pro	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		30194637, 31844625, 34638902, 35400565	Exon 7	Yes
ACADVL_0101	c.520G>A	p.Val174Met	ACADVL	SNV	Missense	Pathogenic	VLCAD	21-30	Abnormality of metabolism/homeostasis, Contractures, Elevated circulating creati....	16115821, 17999356, 18670371, 20060901, 21378393, 21932095, 23430950, 26881790, 28755359, 30194637, 30445591, 30904546, 31191348, 32061778, 32463482, 32558070, 34638902, 35281663, 35342266, 36078043	Exon 7	Yes
ACADVL_0102	c.533T>C	p.Leu178Pro	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		21932095, 33123633	Exon 7	Yes
ACADVL_0103	c.535G>T	p.Gly179Trp	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5	Elevated circulating creatine kinase concentration, Exercise intolerance, Hypoglycemia, Liver abnormality, Myalgia, Myoglobinuria	19327992	Exon 7	Yes
ACADVL_0104	c.538G>A	p.Ala180Thr	ACADVL	SNV	Missense	Pathogenic	VLCAD	11-20	Elevated circulating creatine kinase concentration	26385305, 29268767, 30194637, 31844625, 35400565	Exon 7	Yes
ACADVL_0105	c.541C>T	p.His181Tyr	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5	Abnormality of metabolism/homeostasis, Hyperammonemia, Hypotonia, Lethargy, Liver abnormality	27943070	Exon 7	No
ACADVL_0106	c.541dup	p.His181Profs*72	ACADVL	Duplication	Frameshift	Pathogenic	VLCAD	<5	Elevated circulating creatine kinase concentration, Myalgia, Myoglobinuria	25834949, 32061778, 32463482	Exon 7	Yes
ACADVL_0108	c.552C>G	p.Ile184Met	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5	Rhabdomyolysis	29519241	Exon 7	No
ACADVL_0107	c.552del	p.Ile184Metfs*33	ACADVL	Deletion	Frameshift	Pathogenic	VLCAD	<5	Cardiac-other, Hypoglycemia, Lethargy, Poor feeding, Vomiting	23867825, 24503138, 31031081	Exon 7	Yes
ACADVL_0109	c.553G>A	p.Gly185Ser	ACADVL	SNV	Missense	Pathogenic	VLCAD	21-30	Cardiomyopathy, Choreoathetoid movements, Dysarthria, Elevated circulating creat....	17999356, 20060901, 21378393, 21932095, 22841441, 25737446, 28771436, 29618732, 30194637, 31620161, 31737040, 31844625, 32655480, 35400565	Exon 7	Yes
ACADVL_0110	c.561A>C	p.Lys187Asn	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		30194637	Exon 7	No
ACADVL_0111	c.563G>A	p.Gly188Asp	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5	Hypoglycemia, Lethargy, Liver abnormality	31794763	Exon 7	Yes
ACADVL_0112	c.565_587del	p.Ile189Profs*56	ACADVL	Deletion	Frameshift	Pathogenic	VLCAD	<5			Exon 7	Yes
ACADVL_0113	c.566T>C	p.Ile189Thr	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5	Elevated circulating creatine kinase concentration, Rhabdomyolysis	23480858, 27209629, 34194748	Exon 7	Yes
ACADVL_0114	c.577G>C	p.Gly193Arg	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	5-10	Elevated circulating creatine kinase concentration, Hypoglycemia, Rhabdomyolysis	16435213, 16950999, 17999356, 24305961, 25737446, 25834949	Exon 7	Yes
ACADVL_0115	c.587C>T	p.Ala196Val	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5			Exon 7	Yes
ACADVL_0459	c.595G>T	p.Glu199*	ACADVL	SNV	Nonsense	Pathogenic	VLCAD	<5			Exon 7	Yes
ACADVL_0116	c.602A>G	p.Tyr201Cys	ACADVL	SNV	Missense	Pathogenic	VLCAD	5-10	Elevated circulating creatine kinase concentration, Myalgia	14517516, 17457695	Exon 7	Yes
ACADVL_0460	c.603C>G	p.Tyr201*	ACADVL	SNV	Nonsense	Pathogenic	VLCAD	<5			Exon 7	Yes
ACADVL_0117	c.604C>G	p.Leu202Val	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		32793418	Exon 7	Yes
ACADVL_0119	c.605T>A	p.Leu202His	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5	Decelerations, Decreased body weight, Decreased movements, Hypoglycemia, Hypothermia, Myalgia, Myopathy, Poor feeding, Rhabdomyolysis, Vomiting	31031081, 36109795	Exon 7	Yes
ACADVL_0118	c.605T>C	p.Leu202Pro	ACADVL	SNV	Missense	Pathogenic	VLCAD	5-10	Poor feeding	20480395, 23480858, 27209629, 30194637, 30445591, 34194748	Exon 7	Yes
ACADVL_0120	c.606_609del	p.Pro203Serfs*13	ACADVL	Deletion	Frameshift	Pathogenic	VLCAD	<5		33996489	Exon 7	No
ACADVL_0461	c.609del	p.Lys204Serfs*13	ACADVL	Deletion	Frameshift	Pathogenic	VLCAD	<5			Exon 7	Yes
ACADVL_0012	c.614T>C	p.Leu205Pro	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		16860141, 16950999	Exon 7	Yes
ACADVL_0121	c.614T>G	p.Leu205Arg	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		35400565	Exon 7	No
ACADVL_0122	c.619T>C	p.Ser207Pro	ACADVL	SNV	Missense	Pathogenic	VLCAD	5-10	Elevated circulating creatine kinase concentration, Hypoglycemia, Liver abnormality	26927351	Exon 7	Yes
ACADVL_0123	c.621_622+9del	Intronic	ACADVL	Deletion	Splice donor	Pathogenic	VLCAD	<5		35095998	Exon 7, Intron 7	Yes
ACADVL_0124	c.622G>A	p.Gly208Arg	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5	Elevated circulating creatine kinase concentration, Rhabdomyolysis	27209629	Exon 7	Yes
ACADVL_0125	c.622+1G>T	Intronic	ACADVL	SNV	Splice donor	Pathogenic	VLCAD	<5		32061778	Intron 7	No
ACADVL_0126	c.622+14del	Intronic	ACADVL	Deletion	Intronic	Uncertain Significance	VLCAD	<5		35095998	Intron 7	Yes
ACADVL_0127	c.623-21A>G	Intronic	ACADVL	SNV	Intronic	Uncertain Significance	VLCAD	<5	Vomiting	31031081	Intron 7	Yes
ACADVL_0128	c.623-18_623-16del	Intronic	ACADVL	Deletion	Intronic	Uncertain Significance	VLCAD	<5		31844625, 35400565	Intron 7	No
ACADVL_0129	c.623-2A>C	Intronic	ACADVL	SNV	Splice acceptor	Pathogenic	VLCAD	<5	Cardiomyopathy, Myopathy	10077518	Intron 7	No
ACADVL_0130	c.623-1G>A	Intronic	ACADVL	SNV	Splice acceptor	Pathogenic	VLCAD	<5	Cardiomyopathy	10077518	Intron 7	Yes
ACADVL_0131	c.623G>A	p.Gly208Glu	ACADVL	SNV	Missense	Pathogenic	VLCAD	<5		20547398, 30194637	Exon 8	Yes
ACADVL_0132	c.628A>C	p.Thr210Pro	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5		27209629	Exon 8	Yes
ACADVL_0133	c.631G>A	p.Val211Met	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5	Hyperammonemia, Hypoglycemia, Reye syndrome-like episodes	28468868	Exon 8	No
ACADVL_0135	c.637G>A	p.Ala213Thr	ACADVL	SNV	Missense	Pathogenic	VLCAD	11-20	Brisk deep tendon reflexes, Elevated circulating creatine kinase concentration, ....	12213615, 24801231, 28871440, 32928639, 34638902, 9164788	Exon 8	Yes
ACADVL_0134	c.637G>C	p.Ala213Pro	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5	Sudden death	10077518	Exon 8	Yes
ACADVL_0136	c.640T>G	p.Phe214Val	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	5-10		26385305	Exon 8	Yes
ACADVL_0137	c.642_643del	p.Phe214Leufs*38	ACADVL	Deletion	Frameshift	Pathogenic	VLCAD	<5	Cardiomyopathy, Fair skin complexion, Grunting, Hypoglycemia, Hypotonia, Liver abnormality, Poor feeding, Seizure	31620161, 34465376	Exon 8	Yes
ACADVL_0138	c.643T>C	p.Cys215Arg	ACADVL	SNV	Missense	Pathogenic	VLCAD	5-10	Abnormality of metabolism/homeostasis, Cardiac-other, Cardiomyopathy, Elevated c....	24305961, 25834949, 28755359, 32061778	Exon 8	Yes
ACADVL_0139	c.644_647del	p.Cys215*	ACADVL	Deletion	Frameshift	Pathogenic	VLCAD	5-10	Muscle weakness, Myalgia	15210884	Exon 8	Yes
ACADVL_0140	c.652G>A	p.Glu218Lys	ACADVL	SNV	Missense	Pathogenic	VLCAD	<5	Elevated circulating creatine kinase concentration, Hypotonic, Paleness, Poor reaction to pain, Vomiting	30194637, 34184355	Exon 8	Yes
ACADVL_0141	c.655C>A	p.Pro219Thr	ACADVL	SNV	Missense	Pathogenic	VLCAD	<5			Exon 8	Yes
ACADVL_0142	c.661A>G	p.Ser221Gly	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5	Decreased body weight	33986768	Exon 8	Yes
ACADVL_0143	c.664G>C	p.Gly222Arg	ACADVL	SNV	Missense	Pathogenic	VLCAD	5-10	Anuria, Cardiac-other, Cardiomyopathy, Cyanosis, Developmental delay, Diarrhea, ....	24801231, 25652019, 28771436, 31844625	Exon 8	Yes
ACADVL_0144	c.664G>A	p.Gly222Arg	ACADVL	SNV	Missense	Pathogenic	VLCAD	5-10	Coarse, Malaise/fatigue, Muscle weakness, Myalgia, Myoglobinuria, Sweating, Urine discoloration	16443431, 17999356, 20060901, 21378393, 24898617	Exon 8	Yes
ACADVL_0145	c.683T>C	p.Ile228Thr	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5		35281663	Exon 8	No
ACADVL_0146	c.685C>T	p.Arg229*	ACADVL	SNV	Nonsense	Pathogenic	VLCAD	11-20	Elevated circulating creatine kinase concentration, Malaise/fatigue, Myalgia, Pulmonary/respiratory	17999356, 26404456, 27246109, 28755359, 29552494, 31372341, 31497477, 31844625, 33549744, 35281663, 35400565	Exon 8	Yes
ACADVL_0462	c.688dup	p.Thr230Asnfs*23	ACADVL	Insertion	Frameshift	Pathogenic	VLCAD	<5	Liver abnormality		Exon 8	Yes
ACADVL_0147	c.689C>T	p.Thr230Ile	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5	Elevated circulating creatine kinase concentration, Rhabdomyolysis	26404456, 27209629, 33549744	Exon 8	Yes
ACADVL_0148	c.694G>A	p.Ala232Thr	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5	Developmental delay, Muscle spasm, Muscle weakness, Myoglobinuria, Seizure	16895136, 23798014, 28871440, 32928639	Exon 8	Yes
ACADVL_0149	c.708_709del	p.Cys237Trpfs*15	ACADVL	Deletion	Frameshift	Pathogenic	VLCAD	<5		35281659	Exon 8	Yes
ACADVL_0150	c.709T>C	p.Cys237Arg	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		18670371, 31844625, 35400565	Exon 8	Yes
ACADVL_0463	c.711_712del	p.Cys237Trpfs*15	ACADVL	Deletion	Frameshift	Pathogenic	VLCAD	<5	Elevated circulating creatine kinase concentration		Exon 8	Yes
ACADVL_0464	c.715A>G	p.Lys239Glu	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5			Exon 8	Yes
ACADVL_0151	c.716_717del	p.Lys239Ilefs*13	ACADVL	Deletion	Frameshift	Pathogenic	VLCAD	<5			Exon 8	Yes
ACADVL_0023	c.727C>T	p.Leu243Phe	ACADVL	SNV	Missense	Pathogenic	VLCAD	5-10	Autism/behavior, Bronchial asthma, Developmental delay, Elevated circulating cre....	29552494, 30023301, 31372341, 31844625, 35400565	Exon 8	No
ACADVL_0152	c.728T>A	p.Leu243His	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5	Attention deficit, Cardiomyopathy, Elevated circulating creatine kinase concentr....	23798014	Exon 8	Yes
ACADVL_0153	c.739A>G	p.Lys247Glu	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5	Sudden death	10077518	Exon 8	Yes
ACADVL_0154	c.739A>C	p.Lys247Gln	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		10790204, 17999356	Exon 8	Yes
ACADVL_0155	c.746G>T	p.Trp249Leu	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5		31844625	Exon 8	No
ACADVL_0156	c.751A>G	p.Ser251Gly	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5	Dehydration, Elevated circulating creatine kinase concentration, Fever, Poor feeding, Pulmonary/respiratory, Renal insufficiency/failure	26937394	Exon 8	Yes
ACADVL_0157	c.753-27C>T	Intronic	ACADVL	SNV	Intronic	Uncertain Significance	VLCAD	<5		27246109	Intron 8	Yes
ACADVL_0158	c.753-6C>A	Intronic	ACADVL	SNV	Splice region	Uncertain Significance	VLCAD	<5		23798014	Intron 8	No
ACADVL_0159	c.753-2A>C	Intronic	ACADVL	SNV	Splice acceptor	Pathogenic	VLCAD	11-20	Abnormality of metabolism/homeostasis, Cardiac-other, Dehydration, Difficulties ....	10738914, 16488171, 17999356, 20060901, 2066862, 21378393, 23798014, 27246109, 30194637	Intron 8	Yes
ACADVL_0465	c.757G>A	p.Gly253Arg	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5			Exon 9	Yes
ACADVL_0160	c.760G>A	p.Gly254Ser	ACADVL	SNV	Missense	Pathogenic	VLCAD	<5			Exon 9	Yes
ACADVL_0161	c.761G>A	p.Gly254Asp	ACADVL	SNV	Missense	Pathogenic	VLCAD	<5		28755359, 35281663	Exon 9	Yes
ACADVL_0162	c.770del	p.Asp257Alafs*19	ACADVL	Deletion	Frameshift	Pathogenic	VLCAD	5-10	Abnormality of metabolism/homeostasis, Arrhythmia, Coma, Elevated circulating cr....	12682504, 20547398, 27209629, 30194637, 34194748	Exon 9	Yes
ACADVL_0163	c.773T>C	p.Ile258Thr	ACADVL	SNV	Missense	Pathogenic	VLCAD	<5		30194637, 33986768	Exon 9	Yes
ACADVL_0164	c.778A>C	p.Thr260Pro	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		31844625, 35400565	Exon 9	No
ACADVL_0165	c.779C>T	p.Thr260Met	ACADVL	SNV	Missense	Pathogenic	VLCAD	30+	Abnormality of metabolism/homeostasis, Arrhythmia, Cardiac arrest, Cardiomyopath....	10077518, 16950999, 17999356, 19327992, 20060901, 20480395, 20547398, 21932095, 27943070, 29268767, 30194637, 32518924, 35400565, 36109795, 7583594, 8422439, 8845838	Exon 9	Yes
ACADVL_0166	c.778_779dup	p.Val261Argfs*16	ACADVL	Duplication	Frameshift	Pathogenic	VLCAD	<5	Hypoglycemia, Hypotonia	27943070	Exon 9	No
ACADVL_0167	c.790A>G	p.Lys264Glu	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	30+	Cardiomyopathy, Elevated circulating creatine kinase concentration, Muscle stiff....	11914034, 15210884, 16895136, 17999356, 19589468, 21378393, 22841441, 31844625, 32669490, 35400565	Exon 9	Yes
ACADVL_0168	c.796C>G	p.Pro266Ala	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5	Elevated circulating creatine kinase concentration, Myalgia, Rhabdomyolysis	25655073	Exon 9	No
ACADVL_0169	c.797_798del	p.Pro266Argfs*31	ACADVL	Deletion	Frameshift	Pathogenic	VLCAD	<5			Exon 9	Yes
ACADVL_0170	c.799_802del	p.Val267Glnfs*8	ACADVL	Deletion	Frameshift	Pathogenic	VLCAD	<5		10790204, 11914034, 28283530, 33549744	Exon 9	Yes
ACADVL_0171	c.829_831del	p.Glu277del	ACADVL	Deletion	Deletion	Pathogenic	VLCAD	11-20	Abnormality of metabolism/homeostasis, Cardiomyopathy, Dehydration, Diarrhea, Di....	20547398, 23169530, 23430948, 27209629, 30194637, 32061778, 32518924	Exon 9	Yes
ACADVL_0172	c.833_835del	p.Lys278del	ACADVL	Deletion	Deletion	Pathogenic	VLCAD	11-20	Cardiomyopathy, Elevated circulating creatine kinase concentration, Exercise int....	16895136, 19327992, 20480395, 23430950, 24305961, 26881790, 30194637, 32463482	Exon 9	Yes
ACADVL_0173	c.839C>T	p.Thr280Ile	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5	Elevated circulating creatine kinase concentration, Myoglobinuria, Myopathy, Rhabdomyolysis		Exon 9	Yes
ACADVL_0174	c.841G>C	p.Ala281Pro	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5			Exon 9	Yes
ACADVL_0175	c.842C>A	p.Ala281Asp	ACADVL	SNV	Missense	Pathogenic	VLCAD	<5	Abnormality of metabolism/homeostasis, Arrhythmia, Cardiac arrest, Elevated circ....	19327992, 27943070, 7583594, 8422439, 8845838	Exon 9	Yes
ACADVL_0005	c.?	p.Ala281Gly	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		35400565	Exon 9	Unknown
ACADVL_0176	c.842_843del	p.Ala281Valfs*16	ACADVL	Deletion	Frameshift	Pathogenic	VLCAD	<5	Cardiac-other, Cardiomyopathy, Feeding problems, Gastrointestinal-other, Hypogly....	12122118	Exon 9	No
ACADVL_0178	c.848T>C	p.Val283Ala	ACADVL	SNV	Missense	Pathogenic	VLCAD	30+	Abnormality of metabolism/homeostasis, Arrhythmia, Autism/behavior, Bilateral br....	10077518, 12682504, 14517516, 16115821, 16443431, 16488171, 16860141, 16950999, 17999356, 19208414, 19333779, 20060901, 20480395, 20547398, 20668464, 21378393, 21429517, 21932095, 23480858, 23774949, 23798014, 24503138, 24898617, 25085675, 25456746, 25834949, 26385305, 26453363, 26881790, 26937394, 27209629, 27246109, 27518779, 28755359, 29268767, 30194637, 30445591, 30617651, 30761551, 31031081, 31620161, 31983732, 32061778, 32276429, 32463482, 32558070, 32793418, 33123633, 33549744, 33597881, 33986768, 34194748, 35281659, 35281663, 36078043, 36109795, 8845838	Exon 9	Yes
ACADVL_0179	c.854A>G	p.Glu285Gly	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5	Elevated circulating creatine kinase concentration, Gait disturbance, Muscle weakness, Myalgia, Myoglobinuria, Rhabdomyolysis, Urine discoloration	27538624, 29552494, 31372341, 31844625, 35400565	Exon 9	No
ACADVL_0180	c.856A>G	p.Arg286Gly	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		17999356, 20060901	Exon 9	Yes
ACADVL_0181	c.856_857del	p.Arg286Glyfs*11	ACADVL	Deletion	Frameshift	Pathogenic	VLCAD	<5			Exon 9	Yes
ACADVL_0182	c.864C>T	p.Phe288Phe	ACADVL	SNV	Silent	Uncertain Significance	VLCAD	<5		30194637, 33549744	Exon 9	Yes
ACADVL_0183	c.864dup	p.Gly289Argfs*9	ACADVL	Duplication	Frameshift	Pathogenic	VLCAD	<5		30194637	Exon 9	No
ACADVL_0184	c.865G>A	p.Gly289Arg	ACADVL	SNV	Missense	Pathogenic	VLCAD	11-20	Ataxia, Autism/behavior, Cardiac-other, Decreased body weight, Developmental del....	14517516, 22494076, 23480858, 23798014, 27209629, 27246109, 30194637, 31031081, 33123633	Exon 9	Yes
ACADVL_0185	c.866G>A	p.Gly289Glu	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5			Exon 9	Yes
ACADVL_0187	c.869G>A	p.Gly290Asp	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5	Hepatic encephalopathy, Reye syndrome-like episodes, Rhabdomyolysis	12208138	Exon 9	Yes
ACADVL_0186	c.869del	p.Gly290Alafs*63	ACADVL	Deletion	Frameshift	Pathogenic	VLCAD	<5	Elevated circulating creatine kinase concentration, Exercise intolerance, Liver ....	32558070	Exon 9	Yes
ACADVL_0466	c.877del	p.His293Metfs*60	ACADVL	Deletion	Frameshift	Pathogenic	VLCAD	<5	Elevated circulating creatine kinase concentration		Exon 9	Yes
ACADVL_0188	c.877C>T	p.His293Tyr	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5	Elevated circulating creatine kinase concentration, Exercise intolerance, Hypertension, Myalgia, Subvalvular aortic stenosis	25834949, 32463482	Exon 9	Yes
ACADVL_0189	c.878+1G>C	Intronic	ACADVL	SNV	Splice donor	Pathogenic	VLCAD	5-10	Elevated circulating creatine kinase concentration, Hypoglycemia, Liver abnormality	22841441, 26927351, 31844625, 35400565	Intron 9	Yes
ACADVL_0190	c.878+3G>T	Intronic	ACADVL	SNV	Splice region	Uncertain Significance	VLCAD	<5		31844625	Intron 9	No
ACADVL_0191	c.879-8T>A	Intronic	ACADVL	SNV	Splice region	Uncertain Significance	VLCAD	<5	Elevated circulating creatine kinase concentration, Hypoglycemia, Inflammatory b....	19208414, 20668464, 32558070	Intron 9	Yes
ACADVL_0192	c.881G>A	p.Gly294Glu	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	5-10	Hepatic encephalopathy, Reye syndrome-like episodes, Rhabdomyolysis	12208138, 17999356, 25737446	Exon 10	Yes
ACADVL_0193	c.883C>A	p.Pro295Thr	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		30194637	Exon 10	No
ACADVL_0194	c.881_884dup	p.Pro296Alafs*3	ACADVL	Duplication	Frameshift	Pathogenic	VLCAD	<5			Exon 10	Yes
ACADVL_0195	c.887_888del	p.Pro296Argfs*17	ACADVL	Deletion	Frameshift	Pathogenic	VLCAD	11-20	Cardiac-other, Cardiomyopathy, Decreased body weight, Developmental delay, Eleva....	10077518, 12122118, 23480858, 27590926, 30194637, 31620161, 31737040, 34194748	Exon 10	Yes
ACADVL_0196	c.889_891del	p.Glu297del	ACADVL	Deletion	Deletion	Uncertain Significance	VLCAD	5-10	Abnormality of metabolism/homeostasis, Arrhythmia, Hypoglycemia	21932095, 25456746, 26385305, 27246109, 30194637	Exon 10	Yes
ACADVL_0197	c.896A>T	p.Lys299Met	ACADVL	SNV	Missense	Pathogenic	VLCAD	5-10	Abnormality of metabolism/homeostasis, Anuria, Cardiomyopathy, Coma, Cyanosis, D....	16880373, 17999356, 25652019, 30194637, 31794763, 35281659	Exon 10	Yes
ACADVL_0198	c.896_898del	p.Lys299del	ACADVL	Deletion	Deletion	Pathogenic	VLCAD	11-20	Abnormality of metabolism/homeostasis, Cardiomyopathy, Generalized hypoplasia, H....	10077518, 10738914, 23480858, 28755359, 30904546, 31844625, 36078043, 8554073	Exon 10	Yes
ACADVL_0199	c.898A>G	p.Met300Val	ACADVL	SNV	Missense	Pathogenic	VLCAD	<5	Distress, Elevated circulating creatine kinase concentration, Rhabdomyolysis	27209629	Exon 10	Yes
ACADVL_0200	c.898A>C	p.Met300Leu	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5	Rhabdomyolysis	28871440, 32928639	Exon 10	No
ACADVL_0201	c.899T>C	p.Met300Thr	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5	Lethargy	27943070	Exon 10	No
ACADVL_0202	c.900G>A	p.Met300Ile	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5	Arm abduction, Elbow flexion, Hip flexion, Knee extension, Lower limb muscle weakness, Muscle weakness, Myalgia, Rhabdomyolysis, Urine discoloration	32558070	Exon 10	Yes
ACADVL_0203	c.902G>A	p.Gly301Asp	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5			Exon 10	Yes
ACADVL_0204	c.907A>G	p.Lys303Glu	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5			Exon 10	Yes
ACADVL_0205	c.910G>A	p.Ala304Thr	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		17999356, 20060901	Exon 10	Yes
ACADVL_0206	c.911C>T	p.Ala304Val	ACADVL	SNV	Missense	Pathogenic	VLCAD	<5	Elevated circulating creatine kinase concentration, Exercise intolerance, Muscle weakness, Myalgia, Rhabdomyolysis, Urine discoloration	21932095, 32558070	Exon 10	Yes
ACADVL_0207	c.922G>T	p.Ala308Ser	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		20547398, 21932095	Exon 10	No
ACADVL_0208	c.925G>A	p.Glu309Lys	ACADVL	SNV	Missense	Pathogenic	VLCAD	<5		20547398, 21932095, 34638902	Exon 10	No
ACADVL_0209	c.928G>C	p.Val310Leu	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		20547398, 21932095	Exon 10	No
ACADVL_0210	c.932del	p.Phe311Serfs*42	ACADVL	Deletion	Frameshift	Pathogenic	VLCAD	<5	Cardiomyopathy	10077518	Exon 10	Yes
ACADVL_0211	c.938_940del	p.Asp313del	ACADVL	Deletion	Deletion	Uncertain Significance	VLCAD	<5			Exon 10	Yes
ACADVL_0212	c.946C>T	p.Arg316Trp	ACADVL	SNV	Missense	Pathogenic	VLCAD	<5			Exon 10	Yes
ACADVL_0213	c.947G>A	p.Arg316Gln	ACADVL	SNV	Missense	Pathogenic	VLCAD	5-10			Exon 10	Yes
ACADVL_0214	c.949G>T	p.Val317Leu	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5	Abnormality of metabolism/homeostasis, Elevated circulating creatine kinase concentration, Hypertrophy	21531094	Exon 10	No
ACADVL_0215	c.950T>C	p.Val317Ala	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	5-10	Abnormality of metabolism/homeostasis, Hypoglycemia, Liver abnormality, Poor feeder, Poor growth -feeding, Pulmonary/respiratory	27209629, 27246109, 8845838, 9973285	Exon 10	Yes
ACADVL_0216	c.953C>T	p.Pro318Leu	ACADVL	SNV	Missense	Pathogenic	VLCAD	<5	Abnormality of metabolism/homeostasis, Hypoglycemia, Lethargy, Liver abnormality, Vomiting	10529389	Exon 10	Yes
ACADVL_0217	c.956C>A	p.Ser319*	ACADVL	SNV	Nonsense	Pathogenic	VLCAD	<5	Cardiomyopathy, Elevated circulating creatine kinase concentration, Liver abnormality	27209629	Exon 10	Yes
ACADVL_0218	c.957G>A	p.Ser319=	ACADVL	SNV	Silent	Uncertain Significance	VLCAD	<5		30194637	Exon 10	Yes
ACADVL_0219	c.961A>G	p.Asn321Asp	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5	Cardiac-other, Hypoglycemia	23700290	Exon 10	No
ACADVL_0220	c.963C>A	p.Asn321Lys	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5	Developmental delay, Motor impairment, Seizure	35281659	Exon 10	Yes
ACADVL_0221	c.965T>C	p.Val322Ala	ACADVL	SNV	Missense	Pathogenic	VLCAD	<5			Exon 10	Yes
ACADVL_0222	c.988T>C	p.Phe330Leu	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5			Exon 10	Yes
ACADVL_0223	c.996del	p.Ala333Profs*20	ACADVL	Deletion	Frameshift	Pathogenic	VLCAD	<5		28755359, 35281663	Exon 10	Yes
ACADVL_0224	c.996dup	p.Ala333Cysfs*26	ACADVL	Insertion	Frameshift	Pathogenic	VLCAD	21-30	Liver abnormality, Pulmonary/respiratory, Rhabdomyolysis, Vomiting	18670371, 25242572, 29519241, 31844625, 33514801, 35400565	Exon 10	Yes
ACADVL_0225	c.997dup	p.Ala333Glyfs*26	ACADVL	Duplication	Frameshift	Pathogenic	VLCAD	<5	Muscle weakness, Myalgia	15210884	Exon 10	No
ACADVL_0226	c.997_998insT	p.Ala333Valfs*26	ACADVL	Insertion	Frameshift	Pathogenic	VLCAD	5-10	Cardiomyopathy, Elevated circulating creatine kinase concentration, Myopathy, Rhabdomyolysis, Sudden fetal distress	17999356, 19589468, 21378393, 22841441, 29519241	Exon 10	Yes
ACADVL_0227	c.1001T>G	p.Met334Arg	ACADVL	SNV	Missense	Pathogenic	VLCAD	5-10		26385305, 27209629	Exon 10	Yes
ACADVL_0228	c.1009C>T	p.Leu337Phe	ACADVL	SNV	Missense	Pathogenic	VLCAD	<5	Liver abnormality, Pulmonary/respiratory, Vomiting	20547398, 21932095, 25242572, 35400565	Exon 10	Yes
ACADVL_0229	c.1009_1011del	p.Leu337del	ACADVL	Deletion	Deletion	Uncertain Significance	VLCAD	<5			Exon 10	Yes
ACADVL_0230	c.1019G>T	p.Gly340Val	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	5-10		26385305, 27246109	Exon 10	Yes
ACADVL_0231	c.1019del	p.Gly340Glufs*13	ACADVL	Deletion	Frameshift	Likely Pathogenic	VLCAD	<5		30194637	Exon 10	No
ACADVL_0467	c.1022G>C	p.Arg341Thr	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5			Exon 10	Yes
ACADVL_0232	c.1022G>A	p.Arg341Lys	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5		30194637	Exon 10	No
ACADVL_0233	c.1024T>C	p.Phe342Leu	ACADVL	SNV	Missense	Pathogenic	VLCAD	<5	Elevated circulating creatine kinase concentration, Other, Rhabdomyolysis		Exon 10	Yes
ACADVL_0234	c.1027G>C	p.Gly343Arg	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5		21932095	Exon 10	No
ACADVL_0468	c.1037C>T	p.Ala346Val	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5			Exon 10	Yes
ACADVL_0235	c.1037dup	p.Ala347Glyfs*12	ACADVL	Duplication	Frameshift	Pathogenic	VLCAD	<5		16183823	Exon 10	No
ACADVL_0236	c.1040C>T	p.Ala347Val	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5		32061778	Exon 10	Yes
ACADVL_0469	c.1043T>C	p.Leu348Pro	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5			Exon 10	Yes
ACADVL_0237	c.1046C>A	p.Ala349Glu	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5		33986768	Exon 10	Yes
ACADVL_0238	c.1049G>A	p.Gly350Asp	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5			Exon 10	Yes
ACADVL_0470	c.1051_1052delinsTT	p.Thr351Phe	ACADVL	Delins	Missense	Uncertain Significance	VLCAD	<5			Exon 10	No
ACADVL_0239	c.1052C>T	p.Thr351Ile	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5	Hypothermia	31031081, 33442025	Exon 10	Yes
ACADVL_0240	c.1052C>A	p.Thr351Asn	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5			Exon 10	Yes
ACADVL_0471	c.1054A>G	p.Met352Val	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5			Exon 10	Yes
ACADVL_0472	c.1064T>C	p.Ile355Thr	ACADVL	SNV	Missense	Pathogenic	VLCAD	<5			Exon 10	Yes
ACADVL_0241	c.1043_1065dup	p.Ile356Trpfs*5	ACADVL	Duplication	Nonsense	Pathogenic	VLCAD	<5	Cardiomyopathy, Elevated circulating creatine kinase concentration, Hypoglycemia, Rhabdomyolysis		Exon 10	Yes
ACADVL_0242	c.1065_1067del	p.Ile356del	ACADVL	Deletion	Deletion	Likely Pathogenic	VLCAD	<5		28871440, 32928639	Exon 10	Yes
ACADVL_0243	c.1066A>G	p.Ile356Val	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	11-20	Decreased body weight, Dizziness, Elevated circulating creatine kinase concentra....	23867825, 26385305, 27209629, 30194637, 31031081, 33123633	Exon 10	Yes
ACADVL_0244	c.1067T>C	p.Ile356Thr	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5			Exon 10	Yes
ACADVL_0245	c.1072A>G	p.Lys358Glu	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5	Elevated circulating creatine kinase concentration, Myalgia, Myoglobinuria	21932095, 25834949, 32463482	Exon 10	Yes
ACADVL_0246	c.1076C>T	p.Ala359Val	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	5-10	Elevated circulating creatine kinase concentration, Myoglobinuria, Myopathy, Rhabdomyolysis	26385305, 27209629, 29111448	Exon 10	Yes
ACADVL_0473	c.1076dup	p.Val360Glyfs*6	ACADVL	Insertion	Frameshift	Pathogenic	VLCAD	<5			Exon 10	No
ACADVL_0247	c.1077G>A	p.Ala359=	ACADVL	SNV	Silent	Likely Pathogenic	VLCAD	<5		27246109, 35281663	Exon 10	Yes
ACADVL_0492	c.1077_1077+1delinsCAC	p.?	ACADVL	Delins	Splice donor	Likely Pathogenic	VLCAD	<5			Exon 10, Intron 10	Yes
ACADVL_0249	c.1077+1G>T	Intronic	ACADVL	SNV	Splice donor	Likely Pathogenic	VLCAD	<5		21932095	Intron 10	Yes
ACADVL_0250	c.1077+2T>C	Intronic	ACADVL	SNV	Splice donor	Pathogenic	VLCAD	<5	Abnormality of metabolism/homeostasis, Ataxia, Axial hypotonia, Elevated circula....	25338548, 33986768	Intron 10	Yes
ACADVL_0251	c.1077+2T>A	Intronic	ACADVL	SNV	Splice donor	Pathogenic	VLCAD	<5		30194637	Intron 10	Yes
ACADVL_0252	c.1077+3_1077+6del	Intronic	ACADVL	Deletion	Splice region	Uncertain Significance	VLCAD	<5			Intron 10	Yes
ACADVL_0253	c.1077+5G>A	Intronic	ACADVL	SNV	Splice region	Uncertain Significance	VLCAD	<5			Intron 10	Yes
ACADVL_0254	c.1077+6T>A	Intronic	ACADVL	SNV	Splice region	Uncertain Significance	VLCAD	<5	Cyanosis, Elevated circulating creatine kinase concentration, Hypoglycemia, Lethargy, Liver abnormality, Muscle weakness	25652019	Intron 10	Yes
ACADVL_0255	c.1078-5T>G	Intronic	ACADVL	SNV	Splice region	Uncertain Significance	VLCAD	<5			Intron 10	Yes
ACADVL_0256	c.1078-1G>A	Intronic	ACADVL	SNV	Splice acceptor	Likely Pathogenic	VLCAD	<5		30194637	Intron 10	No
ACADVL_0257	c.1081G>A	p.Asp361Asn	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		32061778	Exon 11	Yes
ACADVL_0258	c.1093_1094insT	p.Asn365Ilefs*30	ACADVL	Insertion	Frameshift	Pathogenic	VLCAD	<5			Exon 11	Yes
ACADVL_0259	c.1096C>T	p.Arg366Cys	ACADVL	SNV	Missense	Pathogenic	VLCAD	11-20	Abnormality of metabolism/homeostasis, Cardiomyopathy, Hypoglycemia, Liver abnormality, Myopathy, Other, Pulmonary/respiratory	20547398, 21932095, 32793418, 8845838	Exon 11	Yes
ACADVL_0260	c.1096C>G	p.Arg366Gly	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5			Exon 11	Yes
ACADVL_0261	c.1097G>A	p.Arg366His	ACADVL	SNV	Missense	Pathogenic	VLCAD	11-20	Abnormality of metabolism/homeostasis, Arrhythmia, Autism/behavior, Cardiac-othe....	16488171, 24263034, 25456746, 25604974, 27246109, 28755359, 28871440, 32558070, 32928639, 35281663	Exon 11	Yes
ACADVL_0262	c.1102C>T	p.Gln368*	ACADVL	SNV	Nonsense	Pathogenic	VLCAD	<5	Cyanosis, Elevated circulating creatine kinase concentration, Hypoglycemia, Lethargy, Liver abnormality, Muscle weakness	25652019	Exon 11	No
ACADVL_0263	c.1103A>C	p.Gln368Pro	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	5-10	Cardiac-other, Constipation, Decreased body weight, Developmental delay, Diarrhe....	26385305, 31031081	Exon 11	Yes
ACADVL_0265	c.1106T>G	p.Phe369Cys	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5	Elevated circulating creatine kinase concentration, Iron-deficiency anemia, Muscle weakness, Myalgia, Rhabdomyolysis, Urine discoloration	26982752, 32558070	Exon 11	Yes
ACADVL_0264	c.1106T>C	p.Phe369Ser	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5			Exon 11	Yes
ACADVL_0476	c.1115A>C	p.Lys372Thr	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5			Exon 11	No
ACADVL_0266	c.1117A>T	p.Ile373Phe	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		16488171, 25456746, 27246109	Exon 11	No
ACADVL_0267	c.1121A>C	p.His374Pro	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		30194637, 35281663	Exon 11	Yes
ACADVL_0268	c.1127T>C	p.Phe376Ser	ACADVL	SNV	Missense	Pathogenic	VLCAD	5-10	Dehydration, Elevated circulating creatine kinase concentration, Liver abnormality, Poor oral intake, Vomiting	23867825, 28755359, 30194637, 31031081	Exon 11	Yes
ACADVL_0269	c.1128T>G	p.Phe376Leu	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5			Exon 11	Yes
ACADVL_0270	c.1133T>C	p.Leu378Pro	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5		30194637	Exon 11	Yes
ACADVL_0271	c.1141_1143del	p.Glu381del	ACADVL	Deletion	Deletion	Pathogenic	VLCAD	5-10	Cardiomyopathy, Constipation, Decreased body weight, Developmental delay, Elevat....	24305961, 25834949, 26881790, 31031081, 32276429, 32463482, 33597881, 8845838	Exon 11	Yes
ACADVL_0272	c.1144A>C	p.Lys382Gln	ACADVL	SNV	Missense	Pathogenic	VLCAD	21-30	Abnormality of metabolism/homeostasis, Elevated circulating creatine kinase conc....	15210884, 17999356, 20060901, 21378393, 22841441, 24898617, 29552494, 31372341, 31497477, 31844625, 35400565, 8554073	Exon 11	Yes
ACADVL_0273	c.1146G>C	p.Lys382Asn	ACADVL	SNV	Missense	Pathogenic	VLCAD	5-10	Cardiac-other, Cardiomyopathy, Elevated circulating creatine kinase concentratio....	23867825, 27209629, 31031081	Exon 11	Yes
ACADVL_0274	c.1147C>G	p.Leu383Val	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5		36078043	Exon 11	Yes
ACADVL_0275	c.1153C>T	p.Arg385Trp	ACADVL	SNV	Missense	Pathogenic	VLCAD	11-20	Dysarthria, Elevated circulating creatine kinase concentration, Gait unsteadines....	15210884, 16488171, 23798014, 25456746, 25655073, 27246109, 28755359, 31844625, 32655480, 35400565	Exon 11	Yes
ACADVL_0276	c.1168C>T	p.Gln390*	ACADVL	SNV	Nonsense	Pathogenic	VLCAD	<5			Exon 11	Yes
ACADVL_0020	c.1172A>G	p.Tyr391Cys	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		16950999	Exon 11	No
ACADVL_0277	c.1173dup	p.Val392Cysfs*3	ACADVL	Duplication	Frameshift	Pathogenic	VLCAD	<5	Abnormality of metabolism/homeostasis, Arrhythmia, Cardiomyopathy, Distress, Hypoglycemia, Hypothermia, Hypotonia, Lethargy, Pulmonary/respiratory	27209629	Exon 11	No
ACADVL_0278	c.1174G>C	p.Val392Leu	ACADVL	SNV	Missense	Pathogenic	VLCAD	<5		28755359, 35281663	Exon 11	No
ACADVL_0279	c.1177A>G	p.Thr393Ala	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5	Elevated circulating creatine kinase concentration	33123633	Exon 11	Yes
ACADVL_0280	c.1181A>T	p.Glu394Val	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5	Limb-girdle muscle weakness, Myalgia, Myoglobinuria	35342266	Exon 11	No
ACADVL_0281	c.1182+1G>A	Intronic	ACADVL	SNV	Splice donor	Pathogenic	VLCAD	11-20	Cardiomyopathy, Elevated circulating creatine kinase concentration, Hypoglycemia....	21932095, 23480858, 26602010, 27209629, 34194748, 36109795	Intron 11	Yes
ACADVL_0282	c.1182+3G>T	Intronic	ACADVL	SNV	Splice region	Uncertain Significance	VLCAD	5-10	Elevated circulating creatine kinase concentration, Rhabdomyolysis	23480858, 27209629, 30445591, 34194748	Intron 11	Yes
ACADVL_0283	c.1183-15A>G	Intronic	ACADVL	SNV	Intronic	Uncertain Significance	VLCAD	<5		32061778, 9973285	Intron 11	Yes
ACADVL_0284	c.1183-11T>G	Intronic	ACADVL	SNV	Intronic	Likely Benign	VLCAD	<5	Cardiomyopathy, Cyanosis, Developmental delay, Diarrhea, Hypoglycemia, Lethargy, Liver abnormality, Muscle weakness, Seizure	25652019	Intron 11	No
ACADVL_0285	c.1183-7A>G	Intronic	ACADVL	SNV	Splice region	Uncertain Significance	VLCAD	<5	Abnormality of metabolism/homeostasis, Cardiac-other, Elevated circulating creat....	31031081	Intron 11	Yes
ACADVL_0286	c.1194C>A	p.Tyr398*	ACADVL	SNV	Nonsense	Pathogenic	VLCAD	<5	Abnormality of metabolism/homeostasis, Hypoglycemia, Lethargy, Liver abnormality, Vomiting	10529389	Exon 12	Yes
ACADVL_0287	c.1198G>A	p.Val400Met	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	5-10	Elevated circulating creatine kinase concentration, Gait disturbance, Muscle weakness, Myalgia, Myoglobinuria, Rhabdomyolysis, Urine discoloration	27538624, 29552494, 31372341, 31844625, 34194748, 35400565	Exon 12	Yes
ACADVL_0288	c.1192_1206dup	p.Tyr398_Ala402dup	ACADVL	Insertion	Insertion	Uncertain Significance	VLCAD	<5			Exon 12	Yes
ACADVL_0289	c.1213G>C	p.Asp405His	ACADVL	SNV	Missense	Pathogenic	VLCAD	<5	Elevated circulating creatine kinase concentration, Hypotonia, Muscle stiffness,....	10518280, 17999356, 20060901, 32558070	Exon 12	Yes
ACADVL_0290	c.1217A>C	p.Gln406Pro	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5		30194637	Exon 12	Yes
ACADVL_0291	c.1220G>C	p.Gly407Ala	ACADVL	SNV	Missense	Pathogenic	VLCAD	5-10	Hypoglycemia	23798014, 28755359, 35281663	Exon 12	Yes
ACADVL_0292	c.1226C>T	p.Thr409Met	ACADVL	SNV	Missense	Pathogenic	VLCAD	21-30	Abnormality of metabolism/homeostasis, Decreased body weight, Elevated plasma creatine kinase, Jaundice	23169530, 24503138, 27246109, 31031081, 35400565	Exon 12	Yes
ACADVL_0293	c.1228G>T	p.Asp410Tyr	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5		31893530	Exon 12	No
ACADVL_0294	c.1238T>C	p.Ile413Thr	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		35281659	Exon 12	Yes
ACADVL_0009	c.1238T>G	p.Ile413Arg	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		16950999	Exon 12	No
ACADVL_0295	c.1240G>A	p.Glu414Lys	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5			Exon 12	Yes
ACADVL_0296	c.1241A>C	p.Glu414Ala	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5	Elevated circulating creatine kinase concentration, Hypoglycemia, Liver abnormality, Rhabdomyolysis	32518924	Exon 12	Yes
ACADVL_0297	c.1242G>C	p.Glu414Asp	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5	Cola-colored urine, Muscle cramp, Muscle weakness, Myalgia, Myoglobinuria, Rhabdomyolysis, Severe bilateral thigh and calf pain	18670371, 25843429, 32558070, 33986768	Exon 12	No
ACADVL_0298	c.1244C>T	p.Ala415Val	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		28871440, 32928639	Exon 12	Yes
ACADVL_0299	c.1246G>T	p.Ala416Ser	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5	Abnormality of metabolism/homeostasis, Arrhythmia, Hypoglycemia	25456746, 27246109, 30194637	Exon 12	Yes
ACADVL_0300	c.1246G>A	p.Ala416Thr	ACADVL	SNV	Missense	Pathogenic	VLCAD	21-30	Abnormality of metabolism/homeostasis, Elevated circulating creatine kinase conc....	11158518, 11914034, 15210884, 17999356, 20060901, 21378393, 30194637, 31844625, 32669490, 35400565	Exon 12	Yes
ACADVL_0301	c.1253G>A	p.Ser418Asn	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		30194637	Exon 12	Yes
ACADVL_0302	c.1258A>C	p.Ile420Leu	ACADVL	SNV	Missense	Pathogenic	VLCAD	<5		23480858, 36078043	Exon 12	No
ACADVL_0303	c.1268C>T	p.Ser423Leu	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5	Cardiac-other, Hypoglycemia, Hypotensia, Liver abnormality, Pulmonary/respiratory	26385305, 27590926	Exon 12	Yes
ACADVL_0305	c.1269G>A	p.Ser423=	ACADVL	SNV	Silent	Uncertain Significance	VLCAD	<5		30194637	Exon 12	Yes
ACADVL_0306	c.1269+1G>A	Intronic	ACADVL	SNV	Splice donor	Pathogenic	VLCAD	11-20	Abnormality of metabolism/homeostasis, Cardiac arrest, Cardiac-other, Cardiomyop....	10077518, 21531094, 21932095, 25834949, 30194637, 32793418, 33742171, 4022672, 7479827, 7769092	Intron 12	Yes
ACADVL_0307	c.1270G>A	p.Glu424Lys	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5	Developmental delay, Speech -language delay	23798014	Exon 13	No
ACADVL_0308	c.1273G>A	p.Ala425Thr	ACADVL	SNV	Missense	Pathogenic	VLCAD	11-20	Bloody stools, Nec, Rhabdomyolysis, Vomiting	23700290, 26385305, 27209629	Exon 13	Yes
ACADVL_0309	c.1276G>A	p.Ala426Thr	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		28771436	Exon 13	Yes
ACADVL_0310	c.1280G>A	p.Trp427*	ACADVL	SNV	Nonsense	Pathogenic	VLCAD	5-10	Diminished reflexes, Elevated circulating creatine kinase concentration, Hypoactivity, Hypoglycemia, Liver abnormality	10077518, 24801231, 31620161, 31794763, 35664874	Exon 13	Yes
ACADVL_0311	c.1281G>C	p.Trp427Cys	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5	Hypothermia	31031081, 33442025	Exon 13	Yes
ACADVL_0478	c.1291G>C	p.Asp431His	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5			Exon 13	Yes
ACADVL_0312	c.1292A>G	p.Asp431Gly	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5	Feeding difficulties, Lethargy, Vomiting	27029698, 33514801	Exon 13	Yes
ACADVL_0313	c.1309A>G	p.Met437Val	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5	Elevated circulating creatine kinase concentration, Muscle stiffness, Myalgia, Myopathy, Pain	11914034, 17999356, 21378393, 31844625, 35400565	Exon 13	Yes
ACADVL_0314	c.1310T>C	p.Met437Thr	ACADVL	SNV	Missense	Pathogenic	VLCAD	<5	Elevated circulating creatine kinase concentration, Liver abnormality, Muscle we....	24801231, 32558070	Exon 13	Yes
ACADVL_0315	c.1313G>A	p.Gly438Glu	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5	Cardiomyopathy, Elevated circulating creatine kinase concentration, Rhabdomyolysis	32518924	Exon 13	Yes
ACADVL_0316	c.1313G>C	p.Gly438Ala	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		20547398	Exon 13	Yes
ACADVL_0318	c.1316G>C	p.Gly439Ala	ACADVL	SNV	Missense	Pathogenic	VLCAD	<5			Exon 13	Yes
ACADVL_0317	c.1316G>A	p.Gly439Asp	ACADVL	SNV	Missense	Pathogenic	VLCAD	11-20	Abnormality of metabolism/homeostasis, Elevated circulating creatine kinase conc....	17999356, 20060901, 23169530, 23480858, 27209629, 272487, 30194637, 31031081, 34194748	Exon 13	Yes
ACADVL_0319	c.1316del	p.Gly439Valfs*5	ACADVL	Deletion	Frameshift	Pathogenic	VLCAD	<5		30194637	Exon 13	Yes
ACADVL_0320	c.1322G>C	p.Gly441Ala	ACADVL	SNV	Missense	Pathogenic	VLCAD	<5		30617651	Exon 13	Yes
ACADVL_0321	c.1322G>A	p.Gly441Asp	ACADVL	SNV	Missense	Pathogenic	VLCAD	30+	Abnormality of metabolism/homeostasis, Arrhythmia, Autism/behavior, Cardiac-othe....	10077518, 16288870, 16443431, 16488171, 17999356, 19333779, 20060901, 21333574, 21378393, 23867825, 24305961, 25456746, 25604974, 25834949, 26453363, 27246109, 28871440, 30194637, 31031081, 32061778, 32463482, 32558070, 32928639, 34194748, 8845838, 9546340	Exon 13	Yes
ACADVL_0322	c.1328T>G	p.Met443Arg	ACADVL	SNV	Missense	Pathogenic	VLCAD	5-10	Elevated circulating creatine kinase concentration, Hypoglycemia, Pulmonary/respiratory	23480858, 27209629, 34194748	Exon 13	Yes
ACADVL_0323	c.1328T>C	p.Met443Thr	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5	Liver abnormality	25652019	Exon 13	Yes
ACADVL_0324	c.1332G>A	p.Lys444Lys	ACADVL	SNV	Silent	Uncertain Significance	VLCAD	<5	Abnormality of metabolism/homeostasis, Arrhythmia, Cardiac arrest, Diarrhea, Hypoglycemia, Pulmonary/respiratory, Vomiting	24330285	Exon 13	Yes
ACADVL_0325	c.1332+2T>A	Intronic	ACADVL	SNV	Splice donor	Pathogenic	VLCAD	<5		30194637	Intron 13	Yes
ACADVL_0479	c.1333-3T>G	Intronic	ACADVL	SNV	Splice region	Uncertain Significance	VLCAD	<5			Intron 13	Yes
ACADVL_0326	c.1339G>A	p.Gly447Arg	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5	Myopathy	17999356, 21378393, 22841441, 24898617	Exon 14	No
ACADVL_0327	c.1343T>A	p.Val448Glu	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5		24503138	Exon 14	No
ACADVL_0328	c.1345G>C	p.Glu449Gln	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5	Elevated circulating creatine kinase concentration, Other, Rhabdomyolysis	31620161	Exon 14	Yes
ACADVL_0329	c.1348C>T	p.Arg450Cys	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5			Exon 14	Yes
ACADVL_0330	c.1349G>A	p.Arg450His	ACADVL	SNV	Missense	Pathogenic	VLCAD	30+	Abnormality of metabolism/homeostasis, Cardiac-other, Cardiomyopathy, Coma, Deve....	10518280, 11158518, 11914034, 15210884, 16488171, 17999356, 18670371, 20060901, 21378393, 23700290, 24801231, 25652019, 27246109, 28771436, 28980192, 29519241, 30840296, 30904546, 31620161, 31737040, 31794763, 31844625, 31893530, 32558070, 32939699, 35400565, 9546340	Exon 14	Yes
ACADVL_0480	c.1355T>C	p.Leu452Pro	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5			Exon 14	No
ACADVL_0331	c.1357C>T	p.Arg453*	ACADVL	SNV	Nonsense	Pathogenic	VLCAD	<5		29268767, 35400565	Exon 14	Yes
ACADVL_0332	c.1358G>A	p.Arg453Gln	ACADVL	SNV	Missense	Pathogenic	VLCAD	11-20	Difficulty getting up, Diminished reflexes, Elevated circulating creatine kinase....	17999356, 20060901, 30194637, 32272925, 32558070, 33986768, 9973285	Exon 14	Yes
ACADVL_0481	c.1360G>C	p.Asp454His	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5			Exon 14	Yes
ACADVL_0333	c.1360G>A	p.Asp454Asn	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	5-10		25085675, 30194637	Exon 14	Yes
ACADVL_0335	c.1366C>G	p.Arg456Gly	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		32061778	Exon 14	No
ACADVL_0334	c.1366C>T	p.Arg456Cys	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		35281663	Exon 14	Yes
ACADVL_0336	c.1367G>A	p.Arg456His	ACADVL	SNV	Missense	Pathogenic	VLCAD	5-10	Abnormality of metabolism/homeostasis, Cardiomyopathy, Elevated circulating crea....	17206456, 17999356, 21378393, 21932095, 29268767, 30194637, 35281663, 9973285	Exon 14	Yes
ACADVL_0338	c.1370T>C	p.Ile457Thr	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5			Exon 14	Yes
ACADVL_0337	c.1370T>A	p.Ile457Asn	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5	Abnormality of metabolism/homeostasis, Cardiomyopathy, Dehydration, Diarrhea, Di....	21932095, 23430948, 30194637	Exon 14	No
ACADVL_0339	c.1372T>C	p.Phe458Leu	ACADVL	SNV	Missense	Pathogenic	VLCAD	5-10	Abnormality of metabolism/homeostasis, Cardiac-other, Cardiomyopathy, Dehydratio....	10077518, 10738914, 9709714	Exon 14	Yes
ACADVL_0340	c.1375C>T	p.Arg459Trp	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	5-10	Elevated circulating creatine kinase concentration, Encephalopathy, Exercise-ind....	10738914, 21932095, 25085675, 27209629	Exon 14	Yes
ACADVL_0341	c.1375dup	p.Arg459Profs*4	ACADVL	Duplication	Frameshift	Pathogenic	VLCAD	5-10	Myalgia, Myopathy, Rhabdomyolysis	36109795	Exon 14	Yes
ACADVL_0342	c.1376G>A	p.Arg459Gln	ACADVL	SNV	Missense	Pathogenic	VLCAD	21-30	Autism/behavior, Developmental delay, Elevated circulating creatine kinase conce....	14517516, 19327992, 21429517, 23798014, 25214167, 30194637, 30904546	Exon 14	Yes
ACADVL_0343	c.1384G>A	p.Glu462Lys	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		17999356, 21378393	Exon 14	Yes
ACADVL_0344	c.1387G>A	p.Gly463Arg	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5	Abnormality of metabolism/homeostasis, Cardiomyopathy, Coma, Elevated circulatin....	31794763	Exon 14	No
ACADVL_0345	c.1388G>A	p.Gly463Glu	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5	Muscle spasm, Muscle weakness, Myoglobinuria, Seizure	16895136, 28871440, 32928639	Exon 14	Yes
ACADVL_0346	c.1389dup	p.Thr464Aspfs*3	ACADVL	Duplication	Frameshift	Pathogenic	VLCAD	<5			Exon 14	Yes
ACADVL_0347	c.1391C>A	p.Thr464Lys	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5	Cardiomyopathy, Hypertrophy, Hypoglycemia, Liver abnormality	25085675	Exon 14	No
ACADVL_0348	c.1396G>T	p.Asp466Tyr	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5	Cardiac-other, Hypoglycemia, Hypotonia, Liver abnormality, Paleness, Pericardial effusion	24801231, 31844625, 33514801	Exon 14	No
ACADVL_0349	c.1400T>C	p.Ile467Thr	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5	Hypotonia, Malaise/fatigue, Sudden death	27943070	Exon 14	No
ACADVL_0350	c.1405C>T	p.Arg469Trp	ACADVL	SNV	Missense	Pathogenic	VLCAD	11-20	Decreased body weight, Hypoglycemia, Hypotonia	12208138, 17999356, 21932095, 27246109, 30194637, 9973285	Exon 14	Yes
ACADVL_0351	c.1406G>A	p.Arg469Gln	ACADVL	SNV	Missense	Pathogenic	VLCAD	11-20	Arrhythmia, Elevated circulating creatine kinase concentration, Hypoglycemia, Hy....	17514507, 20480395, 23798014, 24305961, 25834949, 26881790, 34194748, 36109795, 9973285	Exon 14	Yes
ACADVL_0352	c.1411T>C	p.Phe471Leu	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5	Malaise/fatigue	24305961, 25834949	Exon 14	Yes
ACADVL_0353	c.1412_1413del	p.Phe471Cysfs*90	ACADVL	Deletion	Frameshift	Likely Pathogenic	VLCAD	<5		30194637	Exon 14	No
ACADVL_0354	c.1430G>A	p.Cys477Tyr	ACADVL	SNV	Missense	Pathogenic	VLCAD	<5	Abnormality of metabolism/homeostasis, Elevated circulating creatine kinase conc....	10738914, 2066862	Exon 14	Yes
ACADVL_0355	c.1434G>A	p.Met478Ile	ACADVL	SNV	Missense	Pathogenic	VLCAD	<5		30904546	Exon 14	Yes
ACADVL_0356	c.1434+2T>C	Intronic	ACADVL	SNV	Splice donor	Pathogenic	VLCAD	<5		30904546	Intron 14	No
ACADVL_0357	c.1434+4del	Intronic	ACADVL	Deletion	Splice region	Uncertain Significance	VLCAD	<5		21932095	Intron 14	No
ACADVL_0358	c.1434+14T>C	Intronic	ACADVL	SNV	Intronic	Uncertain Significance	VLCAD	<5			Intron 14	Yes
ACADVL_0359	c.1434+14T>A	Intronic	ACADVL	SNV	Intronic	Uncertain Significance	VLCAD	<5	Cardiac-other, Diarrhea, Jaundice, Vomiting	31031081	Intron 14	Yes
ACADVL_0360	c.1435G>A	p.Asp479Asn	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5			Exon 15	Yes
ACADVL_0361	c.1443A>T	p.Gly481=	ACADVL	SNV	Silent	Uncertain Significance	VLCAD	<5	Rhabdomyolysis	27943070	Exon 15	No
ACADVL_0362	c.1444_1448del	p.Lys482Alafs*78	ACADVL	Deletion	Frameshift	Pathogenic	VLCAD	5-10	Elevated circulating creatine kinase concentration	24305961, 25834949, 26881790, 32463482	Exon 15	Yes
ACADVL_0482	c.1467T>G	p.Ser489Arg	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5			Exon 15	Yes
ACADVL_0364	c.1468G>C	p.Ala490Pro	ACADVL	SNV	Missense	Pathogenic	VLCAD	5-10	Elevated circulating creatine kinase concentration, Liver abnormality, Myalgia	10077518, 14517516, 17457695, 26453363, 30194637	Exon 15	Yes
ACADVL_0365	c.1496G>T	p.Gly499Val	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5			Exon 15	Yes
ACADVL_0366	c.1500_1502del	p.Leu502del	ACADVL	Deletion	Deletion	Pathogenic	VLCAD	21-30	Abnormality of metabolism/homeostasis, Dizziness, Elevated circulating creatine ....	16488171, 19327992, 24765510, 25456746, 27246109, 27943070, 28871440, 30194637, 32793418, 32928639	Exon 15	Yes
ACADVL_0367	c.1501C>T	p.Leu501Leu	ACADVL	SNV	Silent	Uncertain Significance	VLCAD	<5		27209629	Exon 15	No
ACADVL_0368	c.1502T>C	p.Leu501Pro	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5	Cardiomyopathy, Sudden death	29373990	Exon 15	No
ACADVL_0369	c.1504C>G	p.Leu502Val	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5	Decreased body weight, Dizziness, Elevated circulating creatine kinase concentra....	23867825, 27209629, 31031081	Exon 15	Yes
ACADVL_0371	c.1505T>C	p.Leu502Pro	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5	Liver abnormality, Muscle necrosis and inflamation, Myoglobinuria, Renal insuffi....	19327992, 27209629	Exon 15	No
ACADVL_0370	c.1505T>A	p.Leu502Gln	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5	Abnormality of metabolism/homeostasis, Diminished reflexes, Hypotonia, Muscle we....	16880373, 17999356	Exon 15	No
ACADVL_0372	c.1511_1516del	p.Glu504_Ala505del	ACADVL	Deletion	Deletion	Pathogenic	VLCAD	5-10	Elevated circulating creatine kinase concentration	24305961, 25834949, 26881790, 32463482	Exon 15	No
ACADVL_0373	c.1512G>T	p.Glu504Asp	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		17999356, 21378393, 24898617	Exon 15	No
ACADVL_0374	c.1512G>C	p.Glu504Asp	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5	Coarse, Malaise/fatigue, Muscle weakness, Myalgia, Myoglobinuria, Sweating, Urine discoloration	16443431	Exon 15	No
ACADVL_0375	c.1522C>T	p.Gln508*	ACADVL	SNV	Nonsense	Pathogenic	VLCAD	<5		31893530	Exon 15	Yes
ACADVL_0483	c.1531C>G	p.Arg511Gly	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5			Exon 15	No
ACADVL_0376	c.1531C>T	p.Arg511Trp	ACADVL	SNV	Missense	Pathogenic	VLCAD	5-10	Elevated circulating creatine kinase concentration	17999356, 23798014, 35095998	Exon 15	Yes
ACADVL_0378	c.1532G>A	p.Arg511Gln	ACADVL	SNV	Missense	Pathogenic	VLCAD	5-10	Cardiomyopathy, Distress, Elevated circulating creatine kinase concentration, Liver abnormality, Rhabdomyolysis	18670371, 21932095, 25652019, 27209629, 29519241, 35400565	Exon 15	Yes
ACADVL_0377	c.1532G>C	p.Arg511Pro	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5	Elevated circulating creatine kinase concentration	27209629	Exon 15	Yes
ACADVL_0379	c.1538C>G	p.Ala513Gly	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5	Ataxia, Axial hypotonia, Obstructive hypopnea, Pale optic papillae, Symmetrical mild hypermetropia	33986768	Exon 16	Yes
ACADVL_0380	c.1541G>A	p.Gly514Glu	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		23480858, 30194637	Exon 16	No
ACADVL_0381	c.1552G>A	p.Gly518Ser	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5	Dehydration, Elevated circulating creatine kinase concentration, Liver abnormality, Poor oral intake, Vomiting	31031081	Exon 16	Yes
ACADVL_0382	c.1557del	p.Ser520Valfs*10	ACADVL	Deletion	Frameshift	Pathogenic	VLCAD	<5	Cardiomyopathy, Elevated circulating creatine kinase concentration, Liver abnormality, Rhabdomyolysis	32518924	Exon 16	Yes
ACADVL_0383	c.1567G>A	p.Gly523Arg	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	5-10		28747690	Exon 16	Yes
ACADVL_0384	c.1586_1590del	p.Leu529Serfs*31	ACADVL	Deletion	Frameshift	Pathogenic	VLCAD	<5	Abnormality of metabolism/homeostasis, Coma, Hypoglycemia, Lethargy, Liver abnormality	31794763	Exon 16	No
ACADVL_0385	c.1591C>T	p.Arg531Trp	ACADVL	SNV	Missense	Pathogenic	VLCAD	11-20	Decelerations, Decreased body weight, Decreased movements, Hypoglycemia, Hypothe....	21932095, 28468868, 31031081, 35281659	Exon 16	Yes
ACADVL_0006	c.1592G>T	p.Arg531Leu	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		27209629	Exon 16	No
ACADVL_0386	c.1600G>A	p.Glu534Lys	ACADVL	SNV	Missense	Likely Benign	VLCAD	5-10	Cardiomyopathy, Sudden death	10077518, 26385305	Exon 16	Yes
ACADVL_0387	c.1605+1G>T	Intronic	ACADVL	SNV	Splice donor	Pathogenic	VLCAD	<5	Developmental delay, Hypoglycemia, Liver abnormality, Seizure	21932095, 24801231	Intron 16	Yes
ACADVL_0388	c.1605+1G>A	Intronic	ACADVL	SNV	Splice donor	Pathogenic	VLCAD	<5			Intron 16	Yes
ACADVL_0389	c.1605+3A>G	Intronic	ACADVL	SNV	Splice region	Uncertain Significance	VLCAD	<5			Intron 16	Yes
ACADVL_0390	c.1605+6_1605+7inv	Intronic	ACADVL	Delins	Splice region	Uncertain Significance	VLCAD	<5	Exertion fatigue		Intron 16	Yes
ACADVL_0391	c.1606-3_1606-2del	Intronic	ACADVL	Deletion		Pathogenic	VLCAD	<5	Cardiac-other, Dyspnoea, Elevated circulating creatine kinase concentration, Fev....	11131350, 11914034, 17999356	Intron 16	Yes
ACADVL_0392	c.1612C>T	p.Arg538Trp	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5			Exon 17	Yes
ACADVL_0393	c.1613G>C	p.Arg538Pro	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	5-10	Elevated circulating creatine kinase concentration, Exercise intolerance, Hypoglycemia, Liver abnormality, Myalgia, Myoglobinuria, Rhabdomyolysis	19327992, 27209629, 34194748	Exon 17	Yes
ACADVL_0394	c.1616C>A	p.Ala539Asp	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	5-10	Hypoglycemia, Neurological distress, Other	27943070	Exon 17	Yes
ACADVL_0395	c.1617T>C	p.Ala539Ala	ACADVL	SNV	Silent	Uncertain Significance	VLCAD	<5	Elevated circulating creatine kinase concentration, Hypoglycemia, Lethargy, Prematurity distress, Rhabdomyolysis	27209629	Exon 17	Yes
ACADVL_0493	c.1617T>C	p.Ala539=	ACADVL	SNV	Silent	Uncertain Significance	VLCAD	<5			Exon 17	Yes
ACADVL_0396	c.1619T>C	p.Leu540Pro	ACADVL	SNV	Missense	Pathogenic	VLCAD	5-10		23480858, 28871440, 30445591, 32928639, 34194748, 34638902, 36078043	Exon 17	Yes
ACADVL_0397	c.1621G>A	p.Glu541Lys	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5			Exon 17	Yes
ACADVL_0398	c.1621del	p.Glu541Serfs*11	ACADVL	Deletion	Frameshift	Pathogenic	VLCAD	<5	Myopathy	10077518	Exon 17	No
ACADVL_0399	c.1639G>A	p.Val547Met	ACADVL	SNV	Missense	Pathogenic	VLCAD	5-10	Autism/behavior, Bronchial asthma, Developmental delay, Elevated circulating cre....	18670371, 29552494, 30023301, 31372341, 31844625, 32939699, 35400565	Exon 17	Yes
ACADVL_0400	c.1666_1668del	p.Lys556del	ACADVL	Deletion	Deletion	Likely Pathogenic	VLCAD	<5		30194637	Exon 17	Yes
ACADVL_0401	c.1673T>C	p.Ile558Thr	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5	Contractures, Elevated circulating creatine kinase concentration, Myalgia, Renal insufficiency/failure, Rhabdomyolysis	31191348, 32558070	Exon 17	Yes
ACADVL_0402	c.1678+1G>C	Intronic	ACADVL	SNV	Splice donor	Pathogenic	VLCAD	<5		35281659	Intron 17	No
ACADVL_0403	c.1678+3_1678+6del	Intronic	ACADVL	Deletion	Splice region	Likely Pathogenic	VLCAD	<5	Abnormality of metabolism/homeostasis, Cardiac-other, Elevated circulating creat....	27590926	Intron 17	Yes
ACADVL_0404	c.1678+4A>T	Intronic	ACADVL	SNV	Splice region	Uncertain Significance	VLCAD	<5		30194637	Intron 17	Yes
ACADVL_0405	c.1678+19_1678+31del	Intronic	ACADVL	Deletion	Intronic	Uncertain Significance	VLCAD	<5		35281663	Intron 17	No
ACADVL_0406	c.1679-6G>A	Intronic	ACADVL	SNV	Splice region	Pathogenic	VLCAD	11-20	Abnormality of metabolism/homeostasis, Cardiac-other, Cardiomyopathy, Decreased ....	12122118, 23480858, 27590926, 27943070, 34194748, 9709714, 9973285	Intron 17	Yes
ACADVL_0407	c.1679_1680insCAGA	p.Glu561Argfs*2	ACADVL	Duplication	Frameshift	Pathogenic	VLCAD	<5	Abnormality of metabolism/homeostasis, Hypocarnitinemia, Hypothermia, Hypotonia, Lethargy	8845838	Exon 18	No
ACADVL_0485	c.1682_1701del	p.Glu561Alafs*24	ACADVL	Deletion	Frameshift	Pathogenic	VLCAD	<5			Exon 18	Yes
ACADVL_0408	c.1684_1685del	p.Gln562Valfs*29	ACADVL	Deletion	Frameshift	Pathogenic	VLCAD	<5	Abnormality of metabolism/homeostasis, Cardiomyopathy, Coma, Elevated circulatin....	31794763	Exon 18	Yes
ACADVL_0409	c.1699C>T	p.Arg567Trp	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		35281659	Exon 18	Yes
ACADVL_0001	c.1699_1700delinsTC	p.Arg567Ser	ACADVL	Inversion	Missense	Likely Pathogenic	VLCAD	<5		16183823	Exon 18	No
ACADVL_0410	c.1700G>A	p.Arg567Gln	ACADVL	SNV	Missense	Pathogenic	VLCAD	11-20	Elevated circulating creatine kinase concentration, Myopathy, Rhabdomyolysis	23480858, 23798014, 29268767, 30194637, 32061778, 32518924, 36109795	Exon 18	Yes
ACADVL_0411	c.1711G>A	p.Gly571Arg	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		27246109, 33123633	Exon 18	Yes
ACADVL_0412	c.1707_1715dup	p.Asp570_Ala572dup	ACADVL	Duplication	Insertion	Likely Pathogenic	VLCAD	<5		34638902, 36078043	Exon 18	No
ACADVL_0413	c.1708_1716dup	p.Asp570_Ala572dup	ACADVL	Duplication	Insertion	Likely Pathogenic	VLCAD	<5		28871440, 32928639, 34194748	Exon 18	No
ACADVL_0414	c.1708_1717dup	p.Ile573Argfs*22	ACADVL	Duplication	Frameshift	Pathogenic	VLCAD	<5	Elevated circulating creatine kinase concentration, Hypoglycemia, Lethargy, Prematurity distress, Rhabdomyolysis	23480858, 27209629, 30445591	Exon 18	No
ACADVL_0415	c.1733T>C	p.Met578Thr	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5	Myalgia	36109795	Exon 18	Yes
ACADVL_0486	c.1738G>A	p.Val580Met	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5			Exon 18	No
ACADVL_0416	c.1748C>G	p.Ser583Trp	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		30194637	Exon 18	Yes
ACADVL_0417	c.1748C>T	p.Ser583Leu	ACADVL	SNV	Missense	Pathogenic	VLCAD	5-10	Elevated circulating creatine kinase concentration, Hypoglycemia, Liver abnormality, Muscle stiffness, Rhabdomyolysis	15210884, 23774949, 30612563, 32518924	Exon 18	Yes
ACADVL_0004	c.?	p.Ser583Leu	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		35400565	Exon 18	Unknown
ACADVL_0418	c.1751+1G>A	Intronic	ACADVL	SNV	Splice donor	Pathogenic	VLCAD	<5	Cardiac-other, Hypoglycemia	23700290	Intron 18	Yes
ACADVL_0419	c.1752-2_1755del	Intronic	ACADVL	Deletion	Splice acceptor	Pathogenic	VLCAD	<5		28755359, 35281663	Exon 19, Intron 18	No
ACADVL_0421	c.1754C>A	p.Ala585Asp	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5	Cardiomyopathy, Myopathy		Exon 19	Yes
ACADVL_0420	c.1754C>T	p.Ala585Val	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5		25214167	Exon 19	Yes
ACADVL_0422	c.1770_1773del	p.Ser590Argfs*89	ACADVL	Deletion	Frameshift	Pathogenic	VLCAD	<5	Cardiomyopathy, Elevated circulating creatine kinase concentration, Rhabdomyolysis	26927351, 29519241	Exon 19	Yes
ACADVL_0423	c.1793A>G	p.His598Arg	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5		35400565	Exon 19	No
ACADVL_0424	c.1795G>A	p.Glu599Lys	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5	Developmental delay, Diarrhea, Elevated circulating creatine kinase concentration, Hypoglycemia, Lethargy, Liver abnormality, Seizure, Vomiting	25652019	Exon 19	No
ACADVL_0426	c.1800A>T	p.Lys600Asn	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5		35400565	Exon 19	Yes
ACADVL_0425	c.1800A>C	p.Lys600Asn	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5	Malaise/fatigue, Myalgia	15210884	Exon 19	No
ACADVL_0427	c.1801del	p.Met601Cysfs*79	ACADVL	Deletion	Frameshift	Pathogenic	VLCAD	<5	Elevated circulating creatine kinase concentration, Lethargy, Malaise/fatigue, M....	11914034, 15210884, 17999356, 20060901, 35400565	Exon 19	Yes
ACADVL_0428	c.1803G>A	p.Met601Ile	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5			Exon 19	Yes
ACADVL_0429	c.1804C>A	p.Leu602Ile	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5	Cardiomyopathy, Hypoglycemia, Hypotonia, Lethargy, Liver abnormality, Pulmonary/respiratory	8845838	Exon 19	No
ACADVL_0430	c.1806_1807del	p.Cys603*	ACADVL	Deletion	Frameshift	Pathogenic	VLCAD	<5	Abnormality of metabolism/homeostasis, Arrhythmia, Cardiomyopathy, Distress, Hypoglycemia, Hypothermia, Hypotonia, Lethargy, Pulmonary/respiratory	27209629	Exon 19	Yes
ACADVL_0431	c.1807dup	p.Cys603Leufs*2	ACADVL	Duplication	Frameshift	Pathogenic	VLCAD	<5	Cardiac arrest, Cardiac-other, Cardiomyopathy, Hypoglycemia	27590926	Exon 19	Yes
ACADVL_0432	c.1814_1815del	p.Thr605Metfs*19	ACADVL	Deletion	Frameshift	Pathogenic	VLCAD	<5		30194637	Exon 19	No
ACADVL_0433	c.1816T>C	p.Trp606Arg	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5		35281659	Exon 19	Yes
ACADVL_0434	c.1818G>A	p.Trp606*	ACADVL	SNV	Nonsense	Pathogenic	VLCAD	<5			Exon 19	Yes
ACADVL_0435	c.1820G>C	p.Cys607Ser	ACADVL	SNV	Missense	Pathogenic	VLCAD	<5		28747690	Exon 19	Yes
ACADVL_0436	c.1825G>A	p.Glu609Lys	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5		30445591, 34638902, 36078043	Exon 19	Yes
ACADVL_0487	c.1826A>C	p.Glu609Ala	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5			Exon 19	Yes
ACADVL_0437	c.1827+1G>A	Intronic	ACADVL	SNV	Splice donor	Pathogenic	VLCAD	<5		30194637	Intron 19	Yes
ACADVL_0438	c.1837C>T	p.Arg613Trp	ACADVL	SNV	Missense	Pathogenic	VLCAD	21-30	Cardiac-other, Cardiomyopathy, Coma, Diarrhea, Elevated circulating creatine kin....	10077518, 16183823, 17999356, 19327992, 20547398, 27943070, 28871440, 29111448, 30194637, 32928639, 33123633, 33986768, 34194748, 35281659, 4022672, 7479827, 7769092, 8554073	Exon 20	Yes
ACADVL_0440	c.1838G>C	p.Arg613Pro	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5	Developmental delay	16183823, 35281659	Exon 20	Yes
ACADVL_0439	c.1838G>A	p.Arg613Gln	ACADVL	SNV	Missense	Pathogenic	VLCAD	<5		30194637, 35281659	Exon 20	Yes
ACADVL_0441	c.1843C>T	p.Arg615*	ACADVL	SNV	Nonsense	Pathogenic	VLCAD	5-10	Abnormality of metabolism/homeostasis, Cardiomyopathy, Diarrhea, Diminished refl....	10431122, 11596652, 27029698, 29111448, 33514801	Exon 20	Yes
ACADVL_0442	c.1844G>A	p.Arg615Gln	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	11-20	Abnormality of metabolism/homeostasis, Arrhythmia, Cardiomyopathy, Hypoglycemia, Pulmonary/respiratory	10077518, 17999356, 21378393, 21932095, 26453363, 27209629, 28755359, 30194637, 35281663, 35626289	Exon 20	Yes
ACADVL_0443	c.1848G>C	p.Glu616Asp	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5	Elevated circulating creatine kinase concentration, Liver abnormality, Muscle biopsy report, Myopathy		Exon 20	Yes
ACADVL_0444	c.1894C>T	p.Arg632Cys	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	5-10		27209629, 28798025, 35281659	Exon 20	Yes
ACADVL_0488	c.1908dup	p.Ile637Hisfs*53	ACADVL	Insertion	Frameshift	Pathogenic	VLCAD	<5			Exon 20	Yes
ACADVL_0445	c.1913C>T	p.Ser638Phe	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5	Cardiac-other, Hypoglycemia, Hypotensia, Liver abnormality, Pulmonary/respiratory	27590926	Exon 20	Yes
ACADVL_0446	c.1918_1921del	p.Ala640Trpfs*39	ACADVL	Deletion	Frameshift	Pathogenic	VLCAD	<5		17999356, 20060901	Exon 20	No
ACADVL_0447	c.1923G>C	p.Leu641Phe	ACADVL	SNV	Missense	Likely Pathogenic	VLCAD	<5	Decreased body weight	27246109, 31031081	Exon 20	Yes
ACADVL_0448	c.1924G>A	p.Val642Met	ACADVL	SNV	Missense	Uncertain Significance	VLCAD	<5	Bilateral branch pulmonary artery stenosis, Cardiac-other, Decelerations, Decrea....	31031081	Exon 20	Yes
ACADVL_0010	c.1933_1934delinsAA	p.Gly645Asn	ACADVL	Inversion	Missense	Uncertain Significance	VLCAD	<5		16183823	Exon 20	No
ACADVL_0449	c.1966T>A	p.656Argext54	ACADVL	SNV	Extension	Uncertain Significance	VLCAD	<5		30194637	Exon 20	Yes
ACADVL_0450	c.1968A>C	p.656Cysext54	ACADVL	SNV	Extension	Uncertain Significance	VLCAD	<5		27209629	Exon 20	Yes

Notes:

* Click the PMID number to go to the corresponding publication.
* All variants are referencing NM_000018.3 and NM_000018.4 and there is no change between these versions with respect to the coding sequence.
* Genomic coordinates are calculated based on variant data provided: in some cases coordinates are estimated in order to allow users to sort the variants linearly, by approximation.
* Click the Present in ClinVar link to go to the corresponding ClinVar VariationID.

Definition of acronyms:

"*": Referenced a stop codon insertion when listed under amino acid change.
ACMG: American College of Medical Genetics and Genomics
CNV: Copy number variant which here describes a change 100 DNA nucleotides or larger.
SNV: Single DNA nucleotide variant
del: Deletion
dup: Duplication
fs: Frameshift
ins: Insertion

References:

https://www.ncbi.nlm.nih.gov/gene/37
https://www.genecards.org/cgi-bin/carddisp.pl?gene=ACADVL
Aoyama, T. et al., Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients. J Clin Invest. 1995 Jun;95(6):2465-73.
Richbourg et al. Phenotype associations from a comprehensive database of long-chain fatty acid oxidation disorder gene variants (Abstract and poster presentation, ASHG 2023).

Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency ​

Introduction

Variant List

Gene Structure

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Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency