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

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ACADVL

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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_IDVariantAmino_Acid_ChangeProtein DomainDisplay ACMG CallACMG_Call_Last_Revised_DateVariant_TypeEffect_Typegene_symbolTimes_Observed_RangePMIDArticle_CountPhenotypeDisease subtypeVariant_StartLocation
ACADVL_0001c.1699_1700delinsTCp.Arg567SerNot SpecifiedLikely Pathogenic03/01/2023ACADVL<3161838231VLCAD1699
ACADVL_0002c.?p.Met478IleCatalytic DomainUncertain Significance03/01/2023ACADVL3-5354005651VLCAD
ACADVL_0003c.?p.Trp249ArgFAD Binding SiteUncertain Significance03/01/2023ACADVL<3354005651VLCAD
ACADVL_0004c.?p.Ser583LeuNot SpecifiedLikely Pathogenic03/01/2023ACADVL<3354005651VLCAD
ACADVL_0005c.?p.Ala281GlyCatalytic DomainLikely Pathogenic03/01/2023ACADVL<3354005651VLCAD
ACADVL_0006c.1592G>Tp.Arg531LeuNot SpecifiedLikely Pathogenic03/01/2023ACADVL<3272096291VLCAD1592
ACADVL_0007c.49C>Tp.Leu17PheNot SpecifiedConflict03/01/2023ACADVL<3304455911VLCAD49
ACADVL_0008c.?p.Ala536Tyrfs*15Not SpecifiedPathogenic03/01/2023ACADVL<325737446, 318446252VLCAD
ACADVL_0009c.1238T>Gp.Ile413ArgCatalytic DomainLikely Pathogenic03/01/2023ACADVL<3169509991VLCAD1238
ACADVL_0010c.1933_1934delinsAAp.Gly645AsnNot SpecifiedUncertain Significance03/01/2023ACADVL<3161838231VLCAD1933
ACADVL_0011c.?p.Gly354LysCatalytic DomainUncertain Significance03/01/2023ACADVL<3115966521Abnormality of metabolism/homeostasis, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, Hypoglycemia, MyoglobinuriaVLCAD
ACADVL_0012c.614T>Cp.Leu205ProCatalytic DomainLikely Pathogenic03/01/2023ACADVL<316860141, 169509992VLCAD614
ACADVL_0013c.?p.Gly481AspCatalytic DomainLikely Pathogenic03/01/2023ACADVL<3169509991VLCAD
ACADVL_0014c.?p.Cys607SerNot SpecifiedLikely Pathogenic03/01/2023ACADVL11-2031844625, 354005652VLCAD
ACADVL_0015c.?p.Gly447ArgCatalytic DomainLikely Pathogenic03/01/2023ACADVL<331844625, 354005652VLCAD
ACADVL_0016c.-154-?_*170+?delDeletion (Entire coding sequence)Not SpecifiedPathogenic05/16/2023ACADVL<30VLCAD
ACADVL_0017c.?p.Pro89Hisfs*28Catalytic DomainPathogenic03/01/2023ACADVL<3264533631VLCAD
ACADVL_0018c.?p.Gly289ArgCatalytic DomainPathogenic03/01/2023ACADVL3-520547398, 31844625, 354005653VLCAD
ACADVL_0019c.?p.Gly222ArgFAD Binding SitePathogenic03/01/2023ACADVL<3318446251VLCAD
ACADVL_0020c.1172A>Gp.Tyr391CysCatalytic DomainLikely Pathogenic03/01/2023ACADVL<3169509991VLCAD1172
ACADVL_0021c.-144_-132delinsTp.?Not SpecifiedUncertain Significance03/01/2023ACADVL<3301946371VLCAD
ACADVL_0022c.?p.Phe113*Catalytic DomainPathogenic03/01/2023ACADVL<329552494, 31372341, 318446253Abnormality of metabolism/homeostasis, Elevated circulating creatine kinase concentration, Malaise/fatigue, Myalgia, Pulmonary/respiratory, Seizure, Syncope, VomitingVLCAD
ACADVL_0023c.727C>Tp.Leu243PheCatalytic DomainPathogenic03/01/2023ACADVL6-1029552494, 30023301, 31372341, 31844625, 354005655Autism/behavior, Bronchial asthma, Developmental delay, Elevated circulating creatine kinase concentration, Hypoglycemia, Malaise/fatigue, Myalgia, Rhabdomyolysis, SeizureVLCAD727
ACADVL_0024c.?p.Phe112LeuCatalytic DomainLikely Pathogenic03/01/2023ACADVL<331844625, 354005652VLCAD
ACADVL_0025c.37C>Tp.Gln13*Not SpecifiedPathogenic03/01/2023SNVNonsenseACADVL<317999356, 200609012VLCAD37Exon 1
ACADVL_0026c.38_49delp.Gln13_Arg16delNot SpecifiedLikely Pathogenic03/01/2023DeletionDeletionACADVL<3301946371VLCAD38Exon 1
ACADVL_0027c.63-2A>CIntronicNot SpecifiedPathogenic03/01/2023SNVSplice acceptorACADVL<3272096291VLCAD63Intron 1
ACADVL_0028c.65C>Ap.Ser22*Not SpecifiedPathogenic03/01/2023SNVNonsenseACADVL30+10790204, 24801231, 27629047, 28980192, 29789446, 32518924, 335497447Cardiomyopathy, Diminished reflexes, Elevated circulating creatine kinase concentration, Hypoactivity, Hypoglycemia, RhabdomyolysisVLCAD65Exon 2
ACADVL_0029c.104delp.Pro35Leufs*26IDR (Disordered)Pathogenic03/01/2023DeletionFrameshiftACADVL21-3017999356, 20547398, 21333574, 24305961, 25834949, 26881790, 27518779, 32061778, 32276429, 3246348210Abnormality of metabolism/homeostasis, Arrhythmia, Cardiac-other, Cardiomyopathy, Developmental delay, Elevated circulating creatine kinase concentration, Exercise intolerance, Hypertrophic cardiomyopathy, Hypoglycemia, Hypothermia, Loss of muscle force, Malaise/fatigue, Myalgia, Myoglobinuria, Rhabdomyolysis, Seizure, VomitingVLCAD104Exon 2
ACADVL_0030c.103_112dupp.Arg38Profs*24IDR (Disordered)Pathogenic03/01/2023DuplicationFrameshiftACADVL3-529519241, 297683832Cardiac-other, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, Lethargy, Pericardial effusion, Poor oral intake, Pulmonary/respiratoryVLCAD103Exon 2
ACADVL_0031c.128G>Ap.Gly43AspCatalytic DomainConflict03/01/2023SNVMissenseACADVL11-2020952238, 30445591, 99732853VLCAD128Exon 2
ACADVL_0032c.138+2T>CIntronicNot SpecifiedPathogenic03/01/2023SNVSplice donorACADVL<3352816631VLCAD138Intron 2
ACADVL_0033c.190A>Tp.Lys64*Catalytic DomainPathogenic05/16/2023SNVNonsenseACADVL<30VLCAD190Exon 3
ACADVL_0034c.192delp.Lys64Asnfs*53Catalytic DomainPathogenic05/16/2023DeletionFrameshiftACADVL<30VLCAD192Exon 3
ACADVL_0035c.194C>Tp.Pro65LeuCatalytic DomainConflict03/01/2023SNVMissenseACADVL6-1010790204, 14517516, 17999356, 21795085, 22494076, 272096296VLCAD194Exon 3
ACADVL_0036c.199A>Tp.Lys67*Catalytic DomainPathogenic05/16/2023SNVNonsenseACADVL3-530194637, 352816632VLCAD199Exon 3
ACADVL_0037c.204+4G>CIntronicNot SpecifiedUncertain Significance05/16/2023SNVSplice regionACADVL<30VLCAD204Intron 3
ACADVL_0038c.205-8_205-7delinsGCIntronicNot SpecifiedLikely Pathogenic03/01/2023DelinsACADVL3-529111448, 30194637, 339867683Leukocytopenia, ThrombocytopeniaVLCAD205Intron 3
ACADVL_0039c.215C>Tp.Ser72PheCatalytic DomainUncertain Significance03/01/2023SNVMissenseACADVL<3248012311Abnormal liver morphology, Developmental delay, Diarrhea, HypoglycemiaVLCAD215Exon 4
ACADVL_0040c.227G>Ap.Gly76GluCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL6-1016860141, 16950999, 301946373VLCAD227Exon 4
ACADVL_0041c.239G>Ap.Gly80AspCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<3301946371VLCAD239Exon 4
ACADVL_0042c.253dupp.Asp85Glyfs*19Catalytic DomainPathogenic03/01/2023DuplicationFrameshiftACADVL<327209629, 313584732Cardiac arrest, Concurrent feeding difficulties, HypothermiaVLCAD253Exon 4
ACADVL_0043c.260T>Cp.Val87AlaCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<3301946371VLCAD260Exon 4
ACADVL_0044c.265C>Tp.Pro89SerCatalytic DomainPathogenic03/01/2023SNVMissenseACADVL3-511131350, 11914034, 17999356, 25737446, 318446255Abnormal liver morphology, Cardiac-other, Dyspnoea, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, Fever, Hypoketotic hypoglycemia, Lethargy, Muscle stiffness, Poor appetite, Pulmonary/respiratory, Stupor, VomitingVLCAD265Exon 4
ACADVL_0045c.266C>Ap.Pro89GlnCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<3354005651VLCAD266Exon 4
ACADVL_0046c.272C>Ap.Pro91GlnCatalytic DomainPathogenic03/01/2023SNVMissenseACADVL<316435213, 17999356, 25737446, 258349494Elevated circulating creatine kinase concentration, Hypoglycemia, RhabdomyolysisVLCAD272Exon 4
ACADVL_0047c.272C>Tp.Pro91LeuCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<323966064, 325580702Cardiomyopathy, Elevated circulating creatine kinase concentration, Myalgia, Myoglobinuria, Nocturnal dyspnea, VomitingVLCAD272Exon 4
ACADVL_0048c.276C>TSilentNot SpecifiedUncertain Significance05/16/2023SNVSilentACADVL<30VLCAD276Exon 4
ACADVL_0049c.277G>Ap.Val93MetCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<3320617781VLCAD277Exon 4
ACADVL_0050c.277+1G>AIntronicNot SpecifiedPathogenic03/01/2023SNVSplice donorACADVL<3301946371VLCAD277Intron 4
ACADVL_0051c.277+2T>GIntronicNot SpecifiedPathogenic03/01/2023SNVSplice donorACADVL<322847164, 349436312Arrhythmia, Decreased feeding, Dehydration, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, Hypotension, Increased cardiothoracic ratio, Lethargy, Poor capillary refill, VomitingVLCAD277Intron 4
ACADVL_0052c.278-31_278-18delIntronicNot SpecifiedUncertain Significance03/01/2023DeletionIntronicACADVL<3317370401VLCAD278Intron 4
ACADVL_0053c.278-1G>AIntronicNot SpecifiedLikely Pathogenic05/16/2023SNVSplice acceptorACADVL<30VLCAD278Intron 4
ACADVL_0054c.294_297delp.Gln98Hisfs*18Catalytic DomainPathogenic03/01/2023DeletionFrameshiftACADVL<3272096291Cardiomyopathy, Hypoglycemia, Hypothermia, Poor feeding, Pulmonary/respiratory, RhabdomyolysisVLCAD294Exon 5
ACADVL_0055c.298C>Tp.Gln100*Catalytic DomainPathogenic03/01/2023SNVNonsenseACADVL<3248012311Abnormality of metabolism/homeostasis, Elevated circulating creatine kinase concentration, Hypoglycemia, Respiratory tract infectionVLCAD298Exon 5
ACADVL_0056c.298_299delp.Gln100Valfs*3Catalytic DomainPathogenic03/01/2023DeletionFrameshiftACADVL3-524801231, 31794763, 335148013Abnormal liver morphology, Abnormality of metabolism/homeostasis, Cardiomyopathy, Coma, Cyanosis, Decreased liver function, Elevated circulating creatine kinase concentration, Hypoglycemia, Lethargy, Myopathy, Respiratory tract infection, SeizureVLCAD298Exon 5
ACADVL_0057c.305T>Cp.Leu102ProCatalytic DomainUncertain Significance03/01/2023SNVMissenseACADVL<3354005651VLCAD305Exon 5
ACADVL_0058c.307A>Tp.Lys103*Catalytic DomainPathogenic03/01/2023SNVNonsenseACADVL<3354005651VLCAD307Exon 5
ACADVL_0059c.317_1752-46delPartial Deletion (Exons 5-18)Not SpecifiedPathogenic05/16/2023Copy Number LossDeletionACADVL<30VLCAD317Exon 5-18,20, Intron 5-18, 20
ACADVL_0060c.307_323dupp.Val109Lysfs*14Catalytic DomainPathogenic05/16/2023DuplicationFrameshiftACADVL<30VLCAD307Exon 5
ACADVL_0061c.329C>Tp.Ser110PheCatalytic DomainUncertain Significance03/01/2023SNVMissenseACADVL<3354005651VLCAD329Exon 5
ACADVL_0062c.329C>Ap.Ser110TyrCatalytic DomainUncertain Significance03/01/2023SNVMissenseACADVL<3300941881VLCAD329Exon 5
ACADVL_0063c.331C>Tp.Arg111CysCatalytic DomainUncertain Significance03/01/2023SNVMissenseACADVL<3301946371VLCAD331Exon 5
ACADVL_0064c.332G>Ap.Arg111HisCatalytic DomainUncertain Significance05/16/2023SNVMissenseACADVL<30VLCAD332Exon 5
ACADVL_0065c.335delp.Phe112Serfs*5Catalytic DomainPathogenic03/01/2023DeletionFrameshiftACADVL<3352816591VLCAD335Exon 5
ACADVL_0066c.339C>Ap.Phe113LeuCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<321932095, 301946372VLCAD339Exon 5
ACADVL_0067c.342+1G>CIntronicNot SpecifiedPathogenic03/01/2023SNVSplice donorACADVL<3200609011VLCAD342Intron 5
ACADVL_0068c.343-1G>AIntronicNot SpecifiedPathogenic03/01/2023SNVSplice acceptorACADVL<3319837321VLCAD343Intron 5
ACADVL_0069c.343-1delIntronicNot SpecifiedLikely Pathogenic03/01/2023DeletionSplice acceptorACADVL<310077518, 4022672, 7479827, 7769092, 85540735Abnormality of the liver, Cardiac-other, Coma, Diarrhea, Dilated cardiomyopathy, Fever, Hypoketotic hypoglycemia, Hypotension, Hypotonia, Lethargy, Pulmonary/respiratory, VomitingVLCAD343Intron 5
ACADVL_0070c.343delp.Glu115Lysfs*2Catalytic DomainPathogenic05/16/2023DeletionFrameshiftACADVL11-2023867825, 27246109, 28871440, 30194637, 31031081, 32928639, 34194748, 352816598Cardiac-other, Cardiomyopathy, Elevated circulating creatine kinase concentration, Encephalopathy, Hypoglycemia, Jaundice, Lethargy, Muscle weakness, Myalgia, Pulmonary/respiratory, Rhabdomyolysis, SeizureVLCAD343Exon 6
ACADVL_0071c.364A>Gp.Asn122AspCatalytic DomainPathogenic05/16/2023SNVMissenseACADVL6-1016115821, 17999356, 20060901, 25737446, 27943070, 346389026Neurological distressVLCAD364Exon 6
ACADVL_0072c.388_390delp.Glu130delCatalytic DomainPathogenic05/16/2023DeletionDeletionACADVL6-1010077518, 10431122, 22847164, 27209629, 30194637, 85540736Abnormal liver morphology, Arrhythmia, Decreased feeding, Dehydration, Diarrhea, Diminished reflexes, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, Fever, Hypertrophic cardiomyopathy, Hypotension, Increased cardiothoracic ratio, Lethargy, Myopathy, Poor capillary refill, VomitingVLCAD388Exon 6
ACADVL_0073c.388_391delp.Glu130Profs*86Catalytic DomainPathogenic03/01/2023DeletionFrameshiftACADVL<317999356, 200609012VLCAD388Exon 6
ACADVL_0074c.407T>Cp.Leu136ProCatalytic DomainUncertain Significance03/01/2023SNVMissenseACADVL<3301946371VLCAD407Exon 6
ACADVL_0075c.416T>Cp.Leu139ProCatalytic DomainUncertain Significance03/01/2023SNVMissenseACADVL<3339867681VLCAD416Exon 6
ACADVL_0076c.419G>Ap.Gly140GluCatalytic DomainPathogenic05/16/2023SNVMissenseACADVL3-515210884, 354005652Malaise/fatigue, MyalgiaVLCAD419Exon 6
ACADVL_0077c.425T>Cp.Phe142SerCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL3-527629047, 289801922VLCAD425Exon 6
ACADVL_0078c.427G>Ap.Gly143SerCatalytic DomainLikely Pathogenic05/16/2023SNVMissenseACADVL<30VLCAD427Exon 6
ACADVL_0079c.428G>Ap.Gly143AspCatalytic DomainLikely Pathogenic05/16/2023SNVMissenseACADVL<30VLCAD428Exon 6
ACADVL_0080c.428_467delp.Gly143Alafs*61Catalytic DomainPathogenic03/01/2023DeletionFrameshiftACADVL<326404456, 335497442VLCAD428Exon 6
ACADVL_0081c.430C>Gp.Leu144ValCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<3301946371VLCAD430Exon 6
ACADVL_0082c.434A>Cp.Gln145ProCatalytic DomainUncertain Significance05/16/2023SNVMissenseACADVL<30VLCAD434Exon 6
ACADVL_0083c.439C>Tp.Pro147SerCatalytic DomainUncertain Significance03/01/2023SNVMissenseACADVL<3272096291Elevated circulating creatine kinase concentration, Elevated hepatic transaminaseVLCAD439Exon 6
ACADVL_0084c.442A>Gp.Ser148GlyCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<3179993561VLCAD442Exon 6
ACADVL_0085c.454G>Ap.Gly152SerCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL3-522841441, 31844625, 354005653VLCAD454Exon 6
ACADVL_0086c.455G>Ap.Gly152AspCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<3193279921Elevated circulating creatine kinase concentration, Exercise intolerance, Myalgia, MyoglobinuriaVLCAD455Exon 6
ACADVL_0087c.469A>Gp.Asn157AspCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<3313584731Cardiac arrest, Concurrent feeding difficulties, HypothermiaVLCAD469Exon 6
ACADVL_0088c.476A>Gp.Gln159ArgCatalytic DomainPathogenic03/01/2023SNVMissenseACADVL<316950999, 25456746, 272461093VLCAD476Exon 6
ACADVL_0089c.481G>Ap.Ala161ThrCatalytic DomainPathogenic05/16/2023SNVMissenseACADVL6-1016488171, 16950999, 27246109, 331236334VLCAD481Exon 7
ACADVL_0090c.485G>Ap.Arg162HisCatalytic DomainUncertain Significance03/01/2023SNVMissenseACADVL<3234808581VLCAD485Exon 7
ACADVL_0091c.488T>Ap.Leu163*Catalytic DomainPathogenic03/01/2023SNVNonsenseACADVL<3318935301VLCAD488Exon 7
ACADVL_0092c.491T>Gp.Val164GlyCatalytic DomainLikely Pathogenic05/16/2023SNVMissenseACADVL3-523169530, 2724872Elevated circulating creatine kinase concentration, Malaise/fatigue, Muscle spasm, Myalgia, Myoglobinuria, Urine discolorationVLCAD491Exon 7
ACADVL_0093c.494A>Tp.Glu165ValCatalytic DomainUncertain Significance03/01/2023SNVMissenseACADVL<3301946371VLCAD494Exon 7
ACADVL_0094c.495G>Tp.Glu165AspCatalytic DomainUncertain Significance03/01/2023SNVMissenseACADVL<3331236331VLCAD495Exon 7
ACADVL_0095c.497_498delp.Ile166Serfs*5Catalytic DomainPathogenic05/16/2023DeletionFrameshiftACADVL<30VLCAD497Exon 7
ACADVL_0096c.506T>Cp.Met169ThrCatalytic DomainUncertain Significance03/01/2023SNVMissenseACADVL<3339964891VLCAD506Exon 7
ACADVL_0097c.507_527delp.Met169_Gly175delCatalytic DomainUncertain Significance03/01/2023DeletionDeletionACADVL<3310310811VLCAD507Exon 7
ACADVL_0098c.513C>Gp.Asp171GluCatalytic DomainUncertain Significance03/01/2023SNVMissenseACADVL<3301946371VLCAD513Exon 7
ACADVL_0099c.514C>Gp.Leu172ValCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<331844625, 354005652VLCAD514Exon 7
ACADVL_0100c.515T>Cp.Leu172ProCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL3-530194637, 31844625, 34638902, 354005654VLCAD515Exon 7
ACADVL_0101c.520G>Ap.Val174MetCatalytic DomainPathogenic05/16/2023SNVMissenseACADVL21-3016115821, 17999356, 18670371, 20060901, 21378393, 21932095, 23430950, 26881790, 28755359, 30194637, 30445591, 30904546, 31191348, 32061778, 32463482, 32558070, 34638902, 35281663, 35342266, 3607804320Abnormality of metabolism/homeostasis, Contractures, Elevated circulating creatine kinase concentration, Hypertension, Limb-girdle muscle weakness, Malaise/fatigue, Myalgia, Myoglobinuria, Myopathy, Renal insufficiency/failure, Reye syndrome-like episodes, RhabdomyolysisVLCAD520Exon 7
ACADVL_0102c.533T>Cp.Leu178ProCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<321932095, 331236332VLCAD533Exon 7
ACADVL_0103c.535G>Tp.Gly179TrpCatalytic DomainUncertain Significance05/16/2023SNVMissenseACADVL<3193279921Abnormal liver morphology, Elevated circulating creatine kinase concentration, Exercise intolerance, Hypoglycemia, Myalgia, MyoglobinuriaVLCAD535Exon 7
ACADVL_0104c.538G>Ap.Ala180ThrCatalytic DomainPathogenic05/16/2023SNVMissenseACADVL11-2026385305, 29268767, 30194637, 31844625, 354005655Elevated circulating creatine kinase concentrationVLCAD538Exon 7
ACADVL_0105c.541C>Tp.His181TyrCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<3279430701Abnormal liver morphology, Abnormality of metabolism/homeostasis, Hyperammonemia, Hypotonia, LethargyVLCAD541Exon 7
ACADVL_0106c.541dupp.His181Profs*72Catalytic DomainPathogenic03/01/2023DuplicationFrameshiftACADVL3-525834949, 32061778, 324634823Elevated circulating creatine kinase concentration, Myalgia, MyoglobinuriaVLCAD541Exon 7
ACADVL_0107c.552delp.Ile184Metfs*33Catalytic DomainPathogenic03/01/2023DeletionFrameshiftACADVL3-523867825, 24503138, 310310813Cardiac-other, Hypoglycemia, Lethargy, Poor feeding, VomitingVLCAD552Exon 7
ACADVL_0108c.552C>Gp.Ile184MetCatalytic DomainUncertain Significance03/01/2023SNVMissenseACADVL<3295192411RhabdomyolysisVLCAD552Exon 7
ACADVL_0109c.553G>Ap.Gly185SerCatalytic DomainPathogenic05/16/2023SNVMissenseACADVL21-3017999356, 20060901, 21378393, 21932095, 22841441, 25737446, 28771436, 29618732, 30194637, 31620161, 31737040, 31844625, 32655480, 3540056514Dysarthria, Elevated circulating creatine kinase concentration, Gait unsteadiness, Microcephaly, Muscle weakness, Myalgia, Myoglobinuria, Rhabdomyolysis, Sporadic choreoathetoid movements, Urine discolorationVLCAD553Exon 7
ACADVL_0110c.561A>Cp.Lys187AsnCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<3301946371VLCAD561Exon 7
ACADVL_0111c.563G>Ap.Gly188AspCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<3317947631Abnormal liver morphology, Decreased liver function, Hypoglycemia, LethargyVLCAD563Exon 7
ACADVL_0112c.565_587delp.Ile189Profs*56Catalytic DomainPathogenic05/16/2023DeletionFrameshiftACADVL<30VLCAD565Exon 7
ACADVL_0113c.566T>Cp.Ile189ThrCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL3-523480858, 27209629, 341947483Elevated circulating creatine kinase concentration, RhabdomyolysisVLCAD566Exon 7
ACADVL_0114c.577G>Cp.Gly193ArgCatalytic DomainPathogenic03/01/2023SNVMissenseACADVL3-516435213, 16950999, 17999356, 24305961, 25737446, 258349496Elevated circulating creatine kinase concentration, Hypoglycemia, RhabdomyolysisVLCAD577Exon 7
ACADVL_0115c.587C>Tp.Ala196ValCatalytic DomainUncertain Significance05/16/2023SNVMissenseACADVL<30VLCAD587Exon 7
ACADVL_0116c.602A>Gp.Tyr201CysCatalytic DomainPathogenic05/16/2023SNVMissenseACADVL3-514517516, 174576952Elevated circulating creatine kinase concentration, MyalgiaVLCAD602Exon 7
ACADVL_0117c.604C>Gp.Leu202ValCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<3327934181VLCAD604Exon 7
ACADVL_0118c.605T>Cp.Leu202ProCatalytic DomainPathogenic05/16/2023SNVMissenseACADVL6-1020480395, 23480858, 27209629, 30194637, 30445591, 341947486Poor feedingVLCAD605Exon 7
ACADVL_0119c.605T>Ap.Leu202HisCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<331031081, 361097952Decelerations, Decreased body weight, Decreased movements, Hypoglycemia, Hypothermia, Myalgia, Myopathy, Poor feeding, Rhabdomyolysis, VomitingVLCAD605Exon 7
ACADVL_0120c.606_609delp.Pro203Serfs*13Catalytic DomainPathogenic03/01/2023DeletionFrameshiftACADVL<3339964891VLCAD606Exon 7
ACADVL_0121c.614T>Gp.Leu205ArgCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<3354005651VLCAD614Exon 7
ACADVL_0122c.619T>Cp.Ser207ProCatalytic DomainPathogenic05/16/2023SNVMissenseACADVL3-5269273511Abnormal liver morphology, Elevated circulating creatine kinase concentration, HypoglycemiaVLCAD619Exon 7
ACADVL_0123c.621_622+9delIntronicNot SpecifiedPathogenic03/01/2023DeletionSplice donorACADVL<3350959981VLCAD621Exon 7, Intron 7
ACADVL_0124c.622G>Ap.Gly208ArgCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<3272096291Elevated circulating creatine kinase concentration, RhabdomyolysisVLCAD622Exon 7
ACADVL_0125c.622+1G>TIntronicNot SpecifiedPathogenic03/01/2023SNVSplice donorACADVL<3320617781VLCAD622Intron 7
ACADVL_0126c.622+14delIntronicNot SpecifiedUncertain Significance03/01/2023DeletionIntronicACADVL<3350959981VLCAD622Intron 7
ACADVL_0127c.623-21A>GIntronicNot SpecifiedUncertain Significance03/01/2023SNVIntronicACADVL<3310310811VomitingVLCAD623Intron 7
ACADVL_0128c.623-18_623-16delIntronicNot SpecifiedUncertain Significance03/01/2023DeletionIntronicACADVL<331844625, 354005652VLCAD623Intron 7
ACADVL_0129c.623-2A>CIntronicNot SpecifiedPathogenic03/01/2023SNVSplice acceptorACADVL<3100775181Dilated cardiomyopathy, MyopathyVLCAD623Intron 7
ACADVL_0130c.623-1G>AIntronicNot SpecifiedPathogenic03/01/2023SNVSplice acceptorACADVL<3100775181Dilated cardiomyopathyVLCAD623Intron 7
ACADVL_0131c.623G>Ap.Gly208GluCatalytic DomainPathogenic03/01/2023SNVMissenseACADVL<320547398, 301946372VLCAD623Exon 8
ACADVL_0132c.628A>Cp.Thr210ProCatalytic DomainUncertain Significance03/01/2023SNVMissenseACADVL<3272096291VLCAD628Exon 8
ACADVL_0133c.631G>Ap.Val211MetCatalytic DomainUncertain Significance03/01/2023SNVMissenseACADVL<3284688681VLCAD631Exon 8
ACADVL_0134c.637G>Cp.Ala213ProCatalytic DomainLikely Pathogenic05/16/2023SNVMissenseACADVL3-5100775181Sudden deathVLCAD637Exon 8
ACADVL_0135c.637G>Ap.Ala213ThrCatalytic DomainPathogenic05/16/2023SNVMissenseACADVL11-2012213615, 24801231, 28871440, 32928639, 34638902, 91647886Brisk deep tendon reflexes, Elevated circulating creatine kinase concentration, Increased tone, Malaise/fatigue, Muscle spasm, Muscle weakness, Myalgia, Myoglobinuria, Rhabdomyolysis, Scissoring of the lower extremities, Urine discolorationVLCAD637Exon 8
ACADVL_0136c.640T>Gp.Phe214ValFAD Binding SiteUncertain Significance05/16/2023SNVMissenseACADVL6-10263853051VLCAD640Exon 8
ACADVL_0137c.642_643delp.Phe214Leufs*38FAD Binding SitePathogenic03/01/2023DeletionFrameshiftACADVL3-531620161, 344653762Abnormal liver morphology, Cardiomyopathy, Fair skin complexion, Grunting, Hypoglycemia, Hypotonia, Poor feeding, SeizureVLCAD642Exon 8
ACADVL_0138c.643T>Cp.Cys215ArgFAD Binding SitePathogenic03/01/2023SNVMissenseACADVL6-1024305961, 25834949, 28755359, 320617784Abnormality of metabolism/homeostasis, Cardiac-other, Decreased liver function, Elevated circulating creatine kinase concentration, Exercise intolerance, Hypertrophic cardiomyopathy, Hypoglycemia, Limb-girdle muscle weakness, Loss of muscle force, Malaise/fatigue, Myalgia, Myoglobinuria, Myopathy, SeizureVLCAD643Exon 8
ACADVL_0139c.644_647delp.Cys215*FAD Binding SitePathogenic05/16/2023DeletionFrameshiftACADVL3-5152108841Muscle weakness, MyalgiaVLCAD644Exon 8
ACADVL_0140c.652G>Ap.Glu218LysFAD Binding SitePathogenic05/16/2023SNVMissenseACADVL3-530194637, 341843552Hypotonic, Paleness, Poor reaction to pain, VomitingVLCAD652Exon 8
ACADVL_0141c.655C>Ap.Pro219ThrFAD Binding SitePathogenic05/16/2023SNVMissenseACADVL<30VLCAD655Exon 8
ACADVL_0142c.661A>Gp.Ser221GlyFAD Binding SiteUncertain Significance03/01/2023SNVMissenseACADVL<3339867681Decreased body weightVLCAD661Exon 8
ACADVL_0143c.664G>Cp.Gly222ArgFAD Binding SitePathogenic03/01/2023SNVMissenseACADVL6-1024801231, 25652019, 28771436, 318446254Abnormal liver morphology, Anuria, Cyanosis, Decreased liver function, Developmental delay, Diarrhea, Disturbance of consciousness, Elevated circulating creatine kinase concentration, Hypoglycemia, Lethargy, Multiorgan damage, SeizureVLCAD664Exon 8
ACADVL_0144c.664G>Ap.Gly222ArgFAD Binding SitePathogenic05/16/2023SNVMissenseACADVL3-516443431, 17999356, 20060901, 21378393, 248986175Coarse, Malaise/fatigue, Muscle weakness, Myalgia, Myoglobinuria, Sweating, Urine discolorationVLCAD664Exon 8
ACADVL_0145c.683T>Cp.Ile228ThrCatalytic DomainUncertain Significance03/01/2023SNVMissenseACADVL<3352816631VLCAD683Exon 8
ACADVL_0146c.685C>Tp.Arg229*Catalytic DomainPathogenic05/16/2023SNVNonsenseACADVL11-2017999356, 26404456, 27246109, 28755359, 29552494, 31372341, 31497477, 31844625, 33549744, 35281663, 3540056511Elevated circulating creatine kinase concentration, Malaise/fatigue, Myalgia, Pulmonary/respiratoryVLCAD685Exon 8
ACADVL_0147c.689C>Tp.Thr230IleCatalytic DomainUncertain Significance05/16/2023SNVMissenseACADVL3-526404456, 27209629, 335497443Elevated circulating creatine kinase concentration, RhabdomyolysisVLCAD689Exon 8
ACADVL_0148c.694G>Ap.Ala232ThrCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL3-516895136, 23798014, 28871440, 329286394Developmental delay, Muscle spasm, Muscle weakness, Myoglobinuria, SeizureVLCAD694Exon 8
ACADVL_0149c.708_709delp.Cys237Trpfs*15Modified residue(S-nitrosocysteine)Pathogenic03/01/2023DeletionFrameshiftACADVL<3352816591VLCAD708Exon 8
ACADVL_0150c.709T>Cp.Cys237ArgModified residue(S-nitrosocysteine)Likely Pathogenic03/01/2023SNVMissenseACADVL3-518670371, 31844625, 354005653VLCAD709Exon 8
ACADVL_0151c.716_717delp.Lys239Ilefs*13Modified residue(N6-acetyllysine)Pathogenic05/16/2023DeletionFrameshiftACADVL<30VLCAD716Exon 8
ACADVL_0152c.728T>Ap.Leu243HisCatalytic DomainUncertain Significance05/16/2023SNVMissenseACADVL<3237980141VLCAD728Exon 8
ACADVL_0153c.739A>Gp.Lys247GluCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<3100775181Sudden deathVLCAD739Exon 8
ACADVL_0154c.739A>Cp.Lys247GlnCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<310790204, 179993562VLCAD739Exon 8
ACADVL_0155c.746G>Tp.Trp249LeuFAD Binding SiteUncertain Significance03/01/2023SNVMissenseACADVL<3318446251VLCAD746Exon 8
ACADVL_0156c.751A>Gp.Ser251GlyFAD Binding SiteUncertain Significance03/01/2023SNVMissenseACADVL<3269373941Dehydration, Elevated circulating creatine kinase concentration, Fever, Poor feeding, Pulmonary/respiratory, Renal insufficiency/failureVLCAD751Exon 8
ACADVL_0157c.753-27C>TIntronicNot SpecifiedUncertain Significance03/01/2023SNVIntronicACADVL<3272461091VLCAD753Intron 8
ACADVL_0158c.753-6C>AIntronicNot SpecifiedUncertain Significance03/01/2023SNVACADVL<3237980141VLCAD753Intron 8
ACADVL_0159c.753-2A>CIntronicNot SpecifiedPathogenic05/16/2023SNVSplice acceptorACADVL11-2010738914, 16488171, 17999356, 20060901, 2066862, 21378393, 23798014, 27246109, 301946379Abnormal liver morphology, Abnormality of metabolism/homeostasis, Cardiac-other, Dehydration, Difficulties in mastication, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, Gastrointestinal-other, Generalized hypoplasia, Hyperammonemia, Hypoglycemia, Hypoketotic, Hypotonia, Lethargy, Lipid accumulation, Liver dysfunction, Malaise/fatigue, Muscle weakness, Myoglobinuria, Pancytopenia, Pericardial effusion, Progressive obtundation, Pulmonary/respiratory, Reye syndrome-like episodesVLCAD753Intron 8
ACADVL_0160c.760G>Ap.Gly254SerCatalytic DomainPathogenic05/16/2023SNVMissenseACADVL<30VLCAD760Exon 9
ACADVL_0161c.761G>Ap.Gly254AspCatalytic DomainPathogenic03/01/2023SNVMissenseACADVL3-528755359, 352816632VLCAD761Exon 9
ACADVL_0162c.770delp.Asp257Alafs*19Catalytic DomainPathogenic03/01/2023DeletionFrameshiftACADVL6-1012682504, 20547398, 27209629, 30194637, 341947485Abnormality of metabolism/homeostasis, Arrhythmia, Coma, Elevated circulating creatine kinase concentration, Hemodynamic instability, Hypoglycemia, Muscle weakness, Myalgia, Myopathy, RhabdomyolysisVLCAD770Exon 9
ACADVL_0163c.773T>Cp.Ile258ThrCatalytic DomainPathogenic05/16/2023SNVMissenseACADVL3-530194637, 339867682VLCAD773Exon 9
ACADVL_0164c.778A>Cp.Thr260ProCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<331844625, 354005652VLCAD778Exon 9
ACADVL_0165c.779C>Tp.Thr260MetCatalytic DomainPathogenic05/16/2023SNVMissenseACADVL30+10077518, 16950999, 17999356, 19327992, 20060901, 20480395, 20547398, 21932095, 27943070, 29268767, 30194637, 32518924, 35400565, 36109795, 7583594, 8422439, 884583817Abnormal liver morphology, Abnormality of metabolism/homeostasis, Arrhythmia, Cardiac arrest, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Exercise intolerance, Hypertrophy, Hypoketotic hypoglycemia, Hypotonia, Lethargy, Myalgia, Myoglobinuria, Myopathy, Pulmonary/respiratory, Pyramidal tract signs, Renal insufficiency/failure, Rhabdomyolysis, SeizureVLCAD779Exon 9
ACADVL_0166c.778_779dupp.Val261Argfs*16Catalytic DomainPathogenic03/01/2023DuplicationFrameshiftACADVL<3279430701Hypoglycemia, HypotoniaVLCAD778Exon 9
ACADVL_0167c.790A>Gp.Lys264GluCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL30+11914034, 15210884, 16895136, 17999356, 19589468, 21378393, 22841441, 31844625, 32669490, 3540056510Cardiomyopathy, Elevated circulating creatine kinase concentration, Muscle stiffness, Muscle weakness, Myalgia, Myopathy, Pain, Renal insufficiency/failure, Rhabdomyolysis, Sudden fetal distress, Urine discoloration, Walking disturbanceVLCAD790Exon 9
ACADVL_0168c.796C>Gp.Pro266AlaCatalytic DomainUncertain Significance03/01/2023SNVMissenseACADVL<3256550731Elevated circulating creatine kinase concentration, Myalgia, RhabdomyolysisVLCAD796Exon 9
ACADVL_0169c.797_798delp.Pro266Argfs*31Catalytic DomainPathogenic05/16/2023DeletionFrameshiftACADVL<30VLCAD797Exon 9
ACADVL_0170c.799_802delp.Val267Glnfs*8Catalytic DomainPathogenic03/01/2023DeletionFrameshiftACADVL3-510790204, 11914034, 28283530, 335497444VLCAD799Exon 9
ACADVL_0171c.829_831delp.Glu277delCatalytic DomainPathogenic05/16/2023DeletionDeletionACADVL11-2020547398, 23169530, 23430948, 27209629, 30194637, 32061778, 325189247Abnormal liver morphology, Abnormality of metabolism/homeostasis, Cardiomyopathy, Dehydration, Diarrhea, Disseminated intravascular coagulation, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, Fever, Hypoglycemia, Ketonuria, Lethargy, Poor feeder, Poor growth -feeding, Rhabdomyolysis, Seizure, VomitingVLCAD829Exon 9
ACADVL_0172c.833_835delp.Lys278delModified residue(N6-acetyllysine)Pathogenic03/01/2023DeletionDeletionACADVL11-2016895136, 19327992, 20480395, 23430950, 24305961, 26881790, 30194637, 324634828Cardiomyopathy, Elevated circulating creatine kinase concentration, Exercise intolerance, Hypertension, Malaise/fatigue, Myalgia, Myoglobinuria, Renal insufficiency/failure, RhabdomyolysisVLCAD833Exon 9
ACADVL_0173c.839C>Tp.Thr280IleCatalytic DomainLikely Pathogenic05/16/2023SNVMissenseACADVL<30VLCAD839Exon 9
ACADVL_0174c.841G>Cp.Ala281ProCatalytic DomainUncertain Significance05/16/2023SNVMissenseACADVL<30VLCAD841Exon 9
ACADVL_0175c.842C>Ap.Ala281AspCatalytic DomainPathogenic03/01/2023SNVMissenseACADVL3-519327992, 27943070, 7583594, 8422439, 88458385Abnormal liver morphology, Abnormality of metabolism/homeostasis, Arrhythmia, Cardiac arrest, Elevated circulating creatine kinase concentration, Exercise intolerance, Hypoketotic hypoglycemia, Hypotonia, Lethargy, Myalgia, Myoglobinuria, Pulmonary/respiratory, Pyramidal tract signs, SeizureVLCAD842Exon 9
ACADVL_0176c.842_843delp.Ala281Valfs*16Catalytic DomainPathogenic03/01/2023DeletionFrameshiftACADVL<3121221181VLCAD842Exon 9
ACADVL_0177c.848T>C-c.950T>Cp.Val283Ala-p.Val317AlaCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<3272096291Elevated hepatic transaminase, Poor feeder, Poor growth -feedingVLCAD950Exon 9
ACADVL_0178c.848T>Cp.Val283AlaCatalytic DomainPathogenic05/16/2023SNVMissenseACADVL30+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, 884583857Abnormality of metabolism/homeostasis, Abnormality of the liver, Arrhythmia, Autism/behavior, Bilateral branch pulmonary artery stenosis, Cardiac-other, Coma, Constipation, Decelerations, Decreased body weight, Decreased liver function, Dehydration, Developmental delay, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, Exercise intolerance, Fever, Hemodynamic instability, Hyperbilirubinemia, Hypoglycemia, Hypothermia, Hypotonia, Inflammatory bowel disease, Jaundice, Left aortic arch with aberrant right subclavian artery, Lethargy, Limpness in extremities, Loss of muscle force, Malaise/fatigue, Motor impairment, Muscle weakness, Myalgia, Myoglobinuria, Myopathy, Neonatal decompensation, Poor feeding, Prematurity, Pulmonary/respiratory, Renal insufficiency/failure, Rhabdomyolysis, Seizure, Speech -language delay, Urine discoloration, VomitingVLCAD848Exon 9
ACADVL_0179c.854A>Gp.Glu285GlyCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL3-527538624, 29552494, 31372341, 31844625, 354005655Elevated circulating creatine kinase concentration, Gait disturbance, Muscle weakness, Myalgia, Myoglobinuria, Rhabdomyolysis, Urine discolorationVLCAD854Exon 9
ACADVL_0180c.856A>Gp.Arg286GlyCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<317999356, 200609012VLCAD856Exon 9
ACADVL_0181c.856_857delp.Arg286Glyfs*11Catalytic DomainPathogenic05/16/2023DeletionFrameshiftACADVL<30VLCAD856Exon 9
ACADVL_0182c.864C>Tp.Phe288PheCatalytic DomainUncertain Significance03/01/2023SNVSilentACADVL3-530194637, 335497442VLCAD864Exon 9
ACADVL_0183c.864dupp.Gly289Argfs*9Catalytic DomainPathogenic03/01/2023DuplicationFrameshiftACADVL<3301946371VLCAD864Exon 9
ACADVL_0184c.865G>Ap.Gly289ArgCatalytic DomainPathogenic05/16/2023SNVMissenseACADVL11-2014517516, 22494076, 23480858, 23798014, 27209629, 27246109, 30194637, 31031081, 331236339Autism/behavior, Cardiac-other, Developmental delay, Hypoglycemia, Lethargy, Muscle weakness, Poor feeding, Speech -language delays, VomitingVLCAD865Exon 9
ACADVL_0185c.866G>Ap.Gly289GluCatalytic DomainLikely Pathogenic05/16/2023SNVMissenseACADVL<30VLCAD866Exon 9
ACADVL_0186c.869delp.Gly290Alafs*63Catalytic DomainPathogenic03/01/2023DeletionFrameshiftACADVL<3325580701Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, Exercise intolerance, Muscle weakness, Myalgia, Myopathy, Neurogenic atrophy, Renal insufficiency/failure, Rhabdomyolysis, Urine discolorationVLCAD869Exon 9
ACADVL_0187c.869G>Ap.Gly290AspCatalytic DomainUncertain Significance05/16/2023SNVMissenseACADVL<3122081381Encephalopathy, Reye syndrome-like episodes, RhabdomyolysisVLCAD869Exon 9
ACADVL_0188c.877C>Tp.His293TyrCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<325834949, 324634822Elevated circulating creatine kinase concentration, Exercise intolerance, Hypertension, Myalgia, Subvalvular aortic stenosisVLCAD877Exon 9
ACADVL_0189c.878+1G>CIntronicNot SpecifiedPathogenic05/16/2023SNVSplice donorACADVL6-1022841441, 26927351, 31844625, 354005654Abnormal liver morphology, Elevated circulating creatine kinase concentration, HypoglycemiaVLCAD878Intron 9
ACADVL_0190c.878+3G>TIntronicNot SpecifiedUncertain Significance03/01/2023SNVSplice regionACADVL<3318446251VLCAD878Intron 9
ACADVL_0191c.879-8T>AIntronicNot SpecifiedUncertain Significance03/01/2023SNVACADVL<319208414, 20668464, 325580703Elevated circulating creatine kinase concentration, Hypoglycemia, Inflammatory bowel disease, Muscle weakness, Myalgia, Myoglobinuria, Rhabdomyolysis, SeizureVLCAD879Intron 9
ACADVL_0192c.881G>Ap.Gly294GluCatalytic DomainLikely Pathogenic05/16/2023SNVMissenseACADVL3-512208138, 17999356, 257374463Encephalopathy, Reye syndrome-like episodes, RhabdomyolysisVLCAD881Exon 10
ACADVL_0193c.883C>Ap.Pro295ThrCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<3301946371VLCAD883Exon 10
ACADVL_0194c.881_884dupp.Pro296Alafs*3Catalytic DomainPathogenic05/16/2023DuplicationFrameshiftACADVL<30VLCAD881Exon 10
ACADVL_0195c.887_888delp.Pro296Argfs*17Catalytic DomainPathogenic05/16/2023DeletionFrameshiftACADVL11-2010077518, 12122118, 23480858, 27590926, 30194637, 31620161, 31737040, 341947488Abnormal liver morphology, Cardiac-other, Decreased body weight, Developmental delay, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, Hypoglycemia, Hypothermia, Hypotonia, Lethargy, Muscle weakness, Pericardial effusion, Poor feeding, Pulmonary/respiratory, RhabdomyolysisVLCAD887Exon 10
ACADVL_0196c.889_891delp.Glu297delCatalytic DomainUncertain Significance05/16/2023DeletionDeletionACADVL6-1021932095, 25456746, 26385305, 27246109, 301946375Abnormality of metabolism/homeostasis, Arrhythmia, HypoglycemiaVLCAD889Exon 10
ACADVL_0197c.896A>Tp.Lys299MetCatalytic DomainPathogenic03/01/2023SNVMissenseACADVL6-1016880373, 17999356, 25652019, 30194637, 31794763, 352816596Abnormal liver morphology, Abnormality of metabolism/homeostasis, Anuria, Cardiomyopathy, Coma, Cyanosis, Decreased liver function, Diarrhea, Diminished reflexes, Disturbance of consciousness, Elevated circulating creatine kinase concentration, Hypoglycemia, Hypotonia, Lethargy, Multiorgan damage, Muscle weakness, Myalgia, Myopathy, Pulmonary/respiratory, Rhabdomyolysis, Seizure, Urine discolorationVLCAD896Exon 10
ACADVL_0198c.896_898delp.Lys299delCatalytic DomainPathogenic05/16/2023DeletionDeletionACADVL11-2010077518, 10738914, 23480858, 28755359, 30904546, 31844625, 36078043, 85540738Abnormal liver morphology, Abnormality of metabolism/homeostasis, Dilated cardiomyopathy, Elevated hepatic transaminase, Generalized hypoplasia, Hypertrophy, Hypoglycemia, Hypotonia, Lethargy, Liver dysfunction, Myopathy, Pancytopenia, Pulmonary/respiratory, Sudden deathVLCAD896Exon 10
ACADVL_0199c.898A>Gp.Met300ValCatalytic DomainPathogenic05/16/2023SNVMissenseACADVL<3272096291Distress, Elevated circulating creatine kinase concentration, RhabdomyolysisVLCAD898Exon 10
ACADVL_0200c.898A>Cp.Met300LeuCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<328871440, 329286392RhabdomyolysisVLCAD898Exon 10
ACADVL_0201c.899T>Cp.Met300ThrCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<3279430701LethargyVLCAD899Exon 10
ACADVL_0202c.900G>Ap.Met300IleCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL3-5325580701Arm abduction, Elbow flexion, Hip flexion, Knee extension, Lower limb muscle weakness, Muscle weakness, Myalgia, Rhabdomyolysis, Urine discolorationVLCAD900Exon 10
ACADVL_0203c.902G>Ap.Gly301AspCatalytic DomainLikely Pathogenic05/16/2023SNVMissenseACADVL<30VLCAD902Exon 10
ACADVL_0204c.907A>Gp.Lys303GluCatalytic DomainUncertain Significance05/16/2023SNVMissenseACADVL<30VLCAD907Exon 10
ACADVL_0205c.910G>Ap.Ala304ThrCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<317999356, 200609012VLCAD910Exon 10
ACADVL_0206c.911C>Tp.Ala304ValCatalytic DomainPathogenic03/01/2023SNVMissenseACADVL3-521932095, 325580702Elevated circulating creatine kinase concentration, Exercise intolerance, Muscle weakness, Myalgia, Rhabdomyolysis, Urine discolorationVLCAD911Exon 10
ACADVL_0207c.922G>Tp.Ala308SerCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<320547398, 219320952VLCAD922Exon 10
ACADVL_0208c.925G>Ap.Glu309LysCatalytic DomainPathogenic03/01/2023SNVMissenseACADVL3-520547398, 21932095, 346389023VLCAD925Exon 10
ACADVL_0209c.928G>Cp.Val310LeuCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<320547398, 219320952VLCAD928Exon 10
ACADVL_0210c.932delp.Phe311Serfs*42Catalytic DomainPathogenic05/16/2023DeletionFrameshiftACADVL<3100775181Dilated cardiomyopathyVLCAD932Exon 10
ACADVL_0211c.938_940delp.Asp313delCatalytic DomainUncertain Significance05/16/2023DeletionDeletionACADVL<30VLCAD938Exon 10
ACADVL_0212c.946C>Tp.Arg316TrpCatalytic DomainPathogenic05/16/2023SNVMissenseACADVL<30VLCAD946Exon 10
ACADVL_0213c.947G>Ap.Arg316GlnCatalytic DomainPathogenic05/16/2023SNVMissenseACADVL3-50VLCAD947Exon 10
ACADVL_0214c.949G>Tp.Val317LeuCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<3215310941Abnormality of metabolism/homeostasis, Elevated circulating creatine kinase concentration, HypertrophyVLCAD949Exon 10
ACADVL_0215c.950T>Cp.Val317AlaCatalytic DomainUncertain Significance05/16/2023SNVMissenseACADVL6-1027209629, 27246109, 8845838, 99732854Abnormality of metabolism/homeostasis, Elevated hepatic transaminase, Hypoglycemia, Poor feeder, Poor growth -feeding, Pulmonary/respiratoryVLCAD950Exon 10
ACADVL_0216c.953C>Tp.Pro318LeuCatalytic DomainPathogenic05/16/2023SNVMissenseACADVL<3105293891Abnormality of metabolism/homeostasis, Elevated hepatic transaminase, Hypoglycemia, Lethargy, VomitingVLCAD953Exon 10
ACADVL_0217c.956C>Ap.Ser319*Catalytic DomainPathogenic05/16/2023SNVNonsenseACADVL3-5272096291Elevated circulating creatine kinase concentration, Elevated hepatic transaminaseVLCAD956Exon 10
ACADVL_0218c.957G>Ap.Ser319=Catalytic DomainUncertain Significance03/01/2023SNVSilentACADVL<3301946371VLCAD957Exon 10
ACADVL_0219c.961A>Gp.Asn321AspCatalytic DomainUncertain Significance03/01/2023SNVMissenseACADVL<3237002901Cardiac-other, HypoglycemiaVLCAD961Exon 10
ACADVL_0220c.963C>Ap.Asn321LysCatalytic DomainUncertain Significance03/01/2023SNVMissenseACADVL<3352816591Developmental delay, Motor impairment, SeizureVLCAD963Exon 10
ACADVL_0221c.965T>Cp.Val322AlaCatalytic DomainPathogenic05/16/2023SNVMissenseACADVL<30VLCAD965Exon 10
ACADVL_0222c.988T>Cp.Phe330LeuCatalytic DomainUncertain Significance05/16/2023SNVMissenseACADVL<30VLCAD988Exon 10
ACADVL_0223c.996delp.Ala333Profs*20Catalytic DomainPathogenic03/01/2023DeletionFrameshiftACADVL3-528755359, 352816632VLCAD996Exon 10
ACADVL_0224c.996dupp.Ala333Cysfs*26Catalytic DomainPathogenic03/01/2023DuplicationFrameshiftACADVL21-3018670371, 25242572, 29519241, 31844625, 33514801, 354005656Abnormal liver morphology, Pulmonary/respiratory, Rhabdomyolysis, VomitingVLCAD996Exon 10
ACADVL_0225c.997dupp.Ala333Glyfs*26Catalytic DomainPathogenic03/01/2023DuplicationFrameshiftACADVL<3152108841Muscle weakness, MyalgiaVLCAD997Exon 10
ACADVL_0226c.997_998insTp.Ala333Valfs*26Catalytic DomainPathogenic03/01/2023InsertionFrameshiftACADVL6-1017999356, 19589468, 21378393, 22841441, 295192415Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, Myopathy, Rhabdomyolysis, Sudden fetal distressVLCAD997Exon 10
ACADVL_0227c.1001T>Gp.Met334ArgCatalytic DomainPathogenic05/16/2023SNVMissenseACADVL6-1026385305, 272096292VLCAD1001Exon 10
ACADVL_0228c.1009C>Tp.Leu337PheCatalytic DomainPathogenic03/01/2023SNVMissenseACADVL3-520547398, 21932095, 25242572, 354005654Abnormal liver morphology, Pulmonary/respiratory, VomitingVLCAD1009Exon 10
ACADVL_0229c.1009_1011delp.Leu337delCatalytic DomainUncertain Significance05/16/2023DeletionDeletionACADVL<30VLCAD1009Exon 10
ACADVL_0230c.1019G>Tp.Gly340ValCatalytic DomainUncertain Significance05/16/2023SNVMissenseACADVL6-1026385305, 272461092VLCAD1019Exon 10
ACADVL_0231c.1019delp.Gly340Glufs*13Catalytic DomainLikely Pathogenic03/01/2023DeletionFrameshiftACADVL<3301946371VLCAD1019Exon 10
ACADVL_0232c.1022G>Ap.Arg341LysCatalytic DomainUncertain Significance03/01/2023SNVMissenseACADVL<3301946371VLCAD1022Exon 10
ACADVL_0233c.1024T>Cp.Phe342LeuCatalytic DomainPathogenic05/16/2023SNVMissenseACADVL<30VLCAD1024Exon 10
ACADVL_0234c.1027G>Cp.Gly343ArgCatalytic DomainUncertain Significance03/01/2023SNVMissenseACADVL<3219320951VLCAD1027Exon 10
ACADVL_0235c.1037dupp.Ala347Glyfs*12Catalytic DomainPathogenic03/01/2023DuplicationFrameshiftACADVL<3161838231VLCAD1037Exon 10
ACADVL_0236c.1040C>Tp.Ala347ValCatalytic DomainUncertain Significance03/01/2023SNVMissenseACADVL<3320617781VLCAD1040Exon 10
ACADVL_0237c.1046C>Ap.Ala349GluCatalytic DomainUncertain Significance03/01/2023SNVMissenseACADVL<3339867681VLCAD1046Exon 10
ACADVL_0238c.1049G>Ap.Gly350AspCatalytic DomainUncertain Significance05/16/2023SNVMissenseACADVL<30VLCAD1049Exon 10
ACADVL_0239c.1052C>Tp.Thr351IleCatalytic DomainUncertain Significance03/01/2023SNVMissenseACADVL<331031081, 334420252HypothermiaVLCAD1052Exon 10
ACADVL_0240c.1052C>Ap.Thr351AsnCatalytic DomainUncertain Significance05/16/2023SNVMissenseACADVL<30VLCAD1052Exon 10
ACADVL_0241c.1043_1065dupp.Ile356Trpfs*5Catalytic DomainPathogenic05/16/2023DuplicationNonsenseACADVL<30VLCAD1043Exon 10
ACADVL_0242c.1065_1067delp.Ile356delCatalytic DomainLikely Pathogenic03/01/2023DeletionDeletionACADVL3-528871440, 329286392VLCAD1065Exon 10
ACADVL_0243c.1066A>Gp.Ile356ValCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL11-2023867825, 26385305, 27209629, 30194637, 31031081, 331236336Decreased body weight, Dizziness, Elevated circulating creatine kinase concentration, Exercise intolerance, Gastrointestinal-other, Malaise/fatigue, Poor feeding, VomitingVLCAD1066Exon 10
ACADVL_0244c.1067T>Cp.Ile356ThrCatalytic DomainUncertain Significance05/16/2023SNVMissenseACADVL<30VLCAD1067Exon 10
ACADVL_0245c.1072A>Gp.Lys358GluCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL3-521932095, 25834949, 324634823Elevated circulating creatine kinase concentration, Myalgia, MyoglobinuriaVLCAD1072Exon 10
ACADVL_0246c.1076C>Tp.Ala359ValCatalytic DomainLikely Pathogenic05/16/2023SNVMissenseACADVL6-1026385305, 27209629, 291114483VLCAD1076Exon 10
ACADVL_0247c.1077G>Ap.Ala359=Catalytic DomainUncertain Significance03/01/2023SNVSilentACADVL3-527246109, 352816632VLCAD1077Exon 10
ACADVL_0248c.1077_1077+1delinsCACIntronicNot SpecifiedLikely Pathogenic05/16/2023DelinsSplice donorACADVL<30VLCAD1077Exon 10, Intron 10
ACADVL_0249c.1077+1G>TIntronicNot SpecifiedLikely Pathogenic03/01/2023SNVSplice donorACADVL<3219320951VLCAD1077Intron 10
ACADVL_0250c.1077+2T>CIntronicNot SpecifiedPathogenic03/01/2023SNVSplice donorACADVL3-525338548, 339867682Abnormal liver morphology, Abnormality of metabolism/homeostasis, Ataxia, Axial hypotonia, Elevated circulating creatine kinase concentration, Hypoglycemia, Interventricular septal hypertrophy, Obstructive hypopnea, Pale optic papillae, Pulmonary/respiratory, Rhabdomyolysis, Symmetrical mild hypermetropiaVLCAD1077Intron 10
ACADVL_0251c.1077+2T>AIntronicNot SpecifiedPathogenic03/01/2023SNVSplice donorACADVL<3301946371VLCAD1077Intron 10
ACADVL_0252c.1077+3_1077+6delIntronicNot SpecifiedUncertain Significance05/16/2023DeletionSplice regionACADVL<30VLCAD1077Intron 10
ACADVL_0253c.1077+5G>AIntronicNot SpecifiedUncertain Significance05/16/2023SNVSplice regionACADVL<30VLCAD1077Intron 10
ACADVL_0254c.1077+6T>AIntronicNot SpecifiedUncertain Significance03/01/2023SNVSplice regionACADVL<3256520191Abnormal liver morphology, Cyanosis, Decreased liver function, Elevated circulating creatine kinase concentration, Hypoglycemia, Lethargy, Muscle weaknessVLCAD1077Intron 10
ACADVL_0255c.1078-5T>GIntronicNot SpecifiedUncertain Significance05/16/2023SNVACADVL<30VLCAD1078Intron 10
ACADVL_0256c.1078-1G>AIntronicNot SpecifiedLikely Pathogenic03/01/2023SNVSplice acceptorACADVL<3301946371VLCAD1078Intron 10
ACADVL_0257c.1081G>Ap.Asp361AsnCatalytic DomainUncertain Significance03/01/2023SNVMissenseACADVL<3320617781VLCAD1081Exon 11
ACADVL_0258c.1093_1094insTp.Asn365Ilefs*30Catalytic DomainPathogenic05/16/2023InsertionFrameshiftACADVL<30VLCAD1093Exon 11
ACADVL_0259c.1096C>Tp.Arg366CysCatalytic DomainPathogenic05/16/2023SNVMissenseACADVL11-2020547398, 21932095, 32793418, 88458384Abnormality of metabolism/homeostasis, Hypoglycemia, Pulmonary/respiratoryVLCAD1096Exon 11
ACADVL_0260c.1096C>Gp.Arg366GlyCatalytic DomainLikely Pathogenic05/16/2023SNVMissenseACADVL<30VLCAD1096Exon 11
ACADVL_0261c.1097G>Ap.Arg366HisCatalytic DomainPathogenic05/16/2023SNVMissenseACADVL11-2016488171, 24263034, 25456746, 25604974, 27246109, 28755359, 28871440, 32558070, 32928639, 3528166310Abnormality of metabolism/homeostasis, Arrhythmia, Autism/behavior, Cardiac-other, Dehydration, Elevated circulating creatine kinase concentration, Exercise intolerance, Hypoglycemia, Muscle weakness, Myalgia, Myoglobinuria, Neonatal decompensation, Renal insufficiency/failure, Rhabdomyolysis, Subsequent electrolyte imbalance, Urine discolorationVLCAD1097Exon 11
ACADVL_0262c.1102C>Tp.Gln368*Catalytic DomainPathogenic03/01/2023SNVNonsenseACADVL<3256520191Abnormal liver morphology, Cyanosis, Decreased liver function, Elevated circulating creatine kinase concentration, Hypoglycemia, Lethargy, Muscle weaknessVLCAD1102Exon 11
ACADVL_0263c.1103A>Cp.Gln368ProCatalytic DomainUncertain Significance05/16/2023SNVMissenseACADVL6-1026385305, 310310812Cardiac-other, Constipation, Decreased body weight, Developmental delay, Diarrhea, Elevated circulating creatine kinase concentration, Gastrointestinal-other, Hyperammonemia, Hypoglycemia, Hypothermia, Jaundice, Lethargy, Myalgia, Poor feeding, VomitingVLCAD1103Exon 11
ACADVL_0264c.1106T>Cp.Phe369SerCatalytic DomainUncertain Significance05/16/2023SNVMissenseACADVL<30VLCAD1106Exon 11
ACADVL_0265c.1106T>Gp.Phe369CysCatalytic DomainUncertain Significance03/01/2023SNVMissenseACADVL<326982752, 325580702Elevated circulating creatine kinase concentration, Iron-deficiency anemia, Muscle weakness, Myalgia, Rhabdomyolysis, Urine discolorationVLCAD1106Exon 11
ACADVL_0266c.1117A>Tp.Ile373PheCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL3-516488171, 25456746, 272461093VLCAD1117Exon 11
ACADVL_0267c.1121A>Cp.His374ProCatalytic DomainLikely Pathogenic05/16/2023SNVMissenseACADVL3-530194637, 352816632VLCAD1121Exon 11
ACADVL_0268c.1127T>Cp.Phe376SerCatalytic DomainPathogenic03/01/2023SNVMissenseACADVL3-523867825, 28755359, 30194637, 310310814Dehydration, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, Poor oral intake, VomitingVLCAD1127Exon 11
ACADVL_0269c.1128T>Gp.Phe376LeuCatalytic DomainUncertain Significance05/16/2023SNVMissenseACADVL<30VLCAD1128Exon 11
ACADVL_0270c.1133T>Cp.Leu378ProCatalytic DomainUncertain Significance03/01/2023SNVMissenseACADVL<3301946371VLCAD1133Exon 11
ACADVL_0271c.1141_1143delp.Glu381delCatalytic DomainPathogenic03/01/2023DeletionDeletionACADVL6-1024305961, 25834949, 26881790, 31031081, 32276429, 32463482, 33597881, 88458388Abnormal liver morphology, Cardiomyopathy, Constipation, Decreased body weight, Developmental delay, Elevated circulating creatine kinase concentration, Exercise intolerance, Gastrointestinal-other, Hyperammonemia, Hypoglycemia, Hypothermia, Hypotonia, Lethargy, Malaise/fatigue, Myalgia, Myoglobinuria, Poor feeding, Pulmonary/respiratory, VomitingVLCAD1141Exon 11
ACADVL_0272c.1144A>Cp.Lys382GlnCatalytic DomainPathogenic03/01/2023SNVMissenseACADVL21-3015210884, 17999356, 20060901, 21378393, 22841441, 24898617, 29552494, 31372341, 31497477, 31844625, 35400565, 855407312Abnormality of metabolism/homeostasis, Elevated circulating creatine kinase concentration, Malaise/fatigue, Muscle stiffness, Muscle weakness, Myalgia, Myopathy, Pulmonary/respiratory, Seizure, Syncope, VomitingVLCAD1144Exon 11
ACADVL_0273c.1146G>Cp.Lys382AsnCatalytic DomainPathogenic03/01/2023SNVMissenseACADVL3-523867825, 27209629, 310310813Cardiac-other, Cardiomyopathy, Elevated circulating creatine kinase concentration, Encephalopathy, Hypoglycemia, Jaundice, Lethargy, Muscle weakness, Myalgia, Pulmonary/respiratory, SeizureVLCAD1146Exon 11
ACADVL_0274c.1147C>Gp.Leu383ValCatalytic DomainUncertain Significance03/01/2023SNVMissenseACADVL<3360780431VLCAD1147Exon 11
ACADVL_0275c.1153C>Tp.Arg385TrpCatalytic DomainPathogenic03/01/2023SNVMissenseACADVL11-2015210884, 16488171, 23798014, 25456746, 25655073, 27246109, 28755359, 31844625, 32655480, 3540056510Dysarthria, Elevated circulating creatine kinase concentration, Gait unsteadiness, Microcephaly, Muscle weakness, Myalgia, Myoglobinuria, Rhabdomyolysis, Sporadic choreoathetoid movements, Urine discolorationVLCAD1153Exon 11
ACADVL_0276c.1168C>Tp.Gln390*Catalytic DomainPathogenic05/16/2023SNVNonsenseACADVL<30VLCAD1168Exon 11
ACADVL_0277c.1173dupp.Val392Cysfs*3Catalytic DomainPathogenic03/01/2023DuplicationFrameshiftACADVL<3272096291Abnormality of metabolism/homeostasis, Arrhythmia, Cardiomyopathy, Distress, Hypoglycemia, Hypothermia, Hypotonia, Lethargy, Pulmonary/respiratoryVLCAD1173Exon 11
ACADVL_0278c.1174G>Cp.Val392LeuCatalytic DomainPathogenic03/01/2023SNVMissenseACADVL<328755359, 352816632VLCAD1174Exon 11
ACADVL_0279c.1177A>Gp.Thr393AlaCatalytic DomainUncertain Significance05/16/2023SNVMissenseACADVL<3331236331VLCAD1177Exon 11
ACADVL_0280c.1181A>Tp.Glu394ValCatalytic DomainUncertain Significance03/01/2023SNVMissenseACADVL<3353422661Limb-girdle muscle weakness, Myalgia, MyoglobinuriaVLCAD1181Exon 11
ACADVL_0281c.1182+1G>AIntronicNot SpecifiedPathogenic05/16/2023SNVSplice donorACADVL11-2021932095, 23480858, 26602010, 27209629, 34194748, 361097956Cardiomyopathy, Elevated circulating creatine kinase concentration, Hypoglycemia, Hypothermia, Hypotonia, Myalgia, Myopathy, Poor feeding, Pulmonary/respiratory, RhabdomyolysisVLCAD1182Intron 11
ACADVL_0282c.1182+3G>TIntronicNot SpecifiedLikely Pathogenic03/01/2023SNVSplice regionACADVL3-523480858, 27209629, 30445591, 341947484Elevated circulating creatine kinase concentration, RhabdomyolysisVLCAD1182Intron 11
ACADVL_0283c.1183-15A>GIntronicNot SpecifiedUncertain Significance03/01/2023SNVIntronicACADVL3-532061778, 99732852VLCAD1183Intron 11
ACADVL_0284c.1183-11T>GIntronicNot SpecifiedLikely Benign03/01/2023SNVIntronicACADVL<3256520191VLCAD1183Intron 11
ACADVL_0285c.1183-7A>GIntronicNot SpecifiedUncertain Significance03/01/2023SNVACADVL<3310310811Abnormality of metabolism/homeostasis, Cardiac-other, Elevated circulating creatine kinase concentration, Fussiness, Hypoglycemia, Hypothermia, Pulmonary/respiratory, VomitingVLCAD1183Intron 11
ACADVL_0286c.1194C>Ap.Tyr398*Catalytic DomainPathogenic03/01/2023SNVNonsenseACADVL<3105293891Abnormality of metabolism/homeostasis, Elevated hepatic transaminase, Hypoglycemia, Lethargy, VomitingVLCAD1194Exon 12
ACADVL_0287c.1198G>Ap.Val400MetCatalytic DomainLikely Pathogenic05/16/2023SNVMissenseACADVL6-1027538624, 29552494, 31372341, 31844625, 34194748, 354005656Elevated circulating creatine kinase concentration, Gait disturbance, Muscle weakness, Myalgia, Myoglobinuria, Rhabdomyolysis, Urine discolorationVLCAD1198Exon 12
ACADVL_0288c.1192_1206dupp.Tyr398_Ala402dupCatalytic DomainUncertain Significance05/16/2023InsertionInsertionACADVL<30VLCAD1192Exon 12
ACADVL_0289c.1213G>Cp.Asp405HisCatalytic DomainPathogenic03/01/2023SNVMissenseACADVL<310518280, 17999356, 20060901, 325580704Elevated circulating creatine kinase concentration, Hypotonia, Muscle stiffness, Myalgia, Myoglobinuria, Myopathy, Seizure, Slight increase of lipid contentVLCAD1213Exon 12
ACADVL_0290c.1217A>Cp.Gln406ProCatalytic DomainUncertain Significance03/01/2023SNVMissenseACADVL<3301946371VLCAD1217Exon 12
ACADVL_0291c.1220G>Cp.Gly407AlaCatalytic DomainPathogenic05/16/2023SNVMissenseACADVL6-1023798014, 28755359, 352816633VLCAD1220Exon 12
ACADVL_0292c.1226C>Tp.Thr409MetCatalytic DomainPathogenic05/16/2023SNVMissenseACADVL21-3023169530, 24503138, 27246109, 31031081, 354005655VLCAD1226Exon 12
ACADVL_0293c.1228G>Tp.Asp410TyrCatalytic DomainUncertain Significance03/01/2023SNVMissenseACADVL<3318935301VLCAD1228Exon 12
ACADVL_0294c.1238T>Cp.Ile413ThrCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<3352816591VLCAD1238Exon 12
ACADVL_0295c.1240G>Ap.Glu414LysCatalytic DomainUncertain Significance05/16/2023SNVMissenseACADVL<30VLCAD1240Exon 12
ACADVL_0296c.1241A>Cp.Glu414AlaCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL3-5325189241Abnormal liver morphology, Elevated circulating creatine kinase concentration, Hypoglycemia, RhabdomyolysisVLCAD1241Exon 12
ACADVL_0297c.1242G>Cp.Glu414AspCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<318670371, 25843429, 32558070, 339867684VLCAD1242Exon 12
ACADVL_0298c.1244C>Tp.Ala415ValCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<328871440, 329286392VLCAD1244Exon 12
ACADVL_0299c.1246G>Tp.Ala416SerCatalytic DomainLikely Pathogenic05/16/2023SNVMissenseACADVL3-525456746, 27246109, 301946373Abnormality of metabolism/homeostasis, Arrhythmia, HypoglycemiaVLCAD1246Exon 12
ACADVL_0300c.1246G>Ap.Ala416ThrCatalytic DomainPathogenic03/01/2023SNVMissenseACADVL21-3011158518, 11914034, 15210884, 17999356, 20060901, 21378393, 30194637, 31844625, 32669490, 3540056510Abnormality of metabolism/homeostasis, Elevated circulating creatine kinase concentration, Lethargy, Malaise/fatigue, Muscle stiffness, Muscle weakness, Myalgia, Myoglobinuria, Myopathy, Urine discoloration, Walking disturbanceVLCAD1246Exon 12
ACADVL_0301c.1253G>Ap.Ser418AsnCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<3301946371VLCAD1253Exon 12
ACADVL_0302c.1258A>Cp.Ile420LeuCatalytic DomainPathogenic03/01/2023SNVMissenseACADVL<323480858, 360780432VLCAD1258Exon 12
ACADVL_0303c.1268C>Tp.Ser423LeuCatalytic DomainUncertain Significance03/01/2023SNVMissenseACADVL<326385305, 275909262Abnormal liver morphology, Cardiac-other, Hypoglycemia, Hypotensia, Pulmonary/respiratoryVLCAD1268Exon 12
ACADVL_0304c.1269G>ASilentNot SpecifiedUncertain Significance05/16/2023SNVSilentACADVL<30VLCAD1269Exon 12
ACADVL_0305c.1269G>Ap.Ser423=Catalytic DomainLikely Pathogenic03/01/2023SNVSilentACADVL<3301946371VLCAD1269Exon 12
ACADVL_0306c.1269+1G>AIntronicNot SpecifiedPathogenic03/01/2023SNVSplice donorACADVL11-2010077518, 21531094, 21932095, 25834949, 30194637, 32793418, 33742171, 4022672, 7479827, 776909210Abnormality of metabolism/homeostasis, Abnormality of the liver, Cardiac arrest, Cardiac-other, Cerebral atrophy, Coma, Decreased appetite, Elevated circulating creatine kinase concentration, Gastrointestinal-other, Hypertrophic cardiomyopathy, Hypertrophy, Hypoglycemia, Hypotonia, Lethargy, Loss of muscle force, Malaise/fatigue, Microcephaly, Muscle weakness, Myopathy, VomitingVLCAD1269Intron 12
ACADVL_0307c.1270G>Ap.Glu424LysCatalytic DomainUncertain Significance03/01/2023SNVMissenseACADVL<3237980141Developmental delay, Speech -language delayVLCAD1270Exon 13
ACADVL_0308c.1273G>Ap.Ala425ThrCatalytic DomainPathogenic05/16/2023SNVMissenseACADVL11-2023700290, 26385305, 272096293RhabdomyolysisVLCAD1273Exon 13
ACADVL_0309c.1276G>Ap.Ala426ThrCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<3287714361VLCAD1276Exon 13
ACADVL_0310c.1280G>Ap.Trp427*Catalytic DomainPathogenic03/01/2023SNVNonsenseACADVL6-1010077518, 24801231, 31620161, 31794763, 356648745Decreased liver function, Diminished reflexes, Elevated circulating creatine kinase concentration, Hypoactivity, HypoglycemiaVLCAD1280Exon 13
ACADVL_0311c.1281G>Cp.Trp427CysCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<331031081, 334420252HypothermiaVLCAD1281Exon 13
ACADVL_0312c.1292A>Gp.Asp431GlyCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<327029698, 335148012Feeding difficulties, Lethargy, VomitingVLCAD1292Exon 13
ACADVL_0313c.1309A>Gp.Met437ValCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL3-511914034, 17999356, 21378393, 31844625, 354005655Elevated circulating creatine kinase concentration, Muscle stiffness, Myalgia, Myopathy, PainVLCAD1309Exon 13
ACADVL_0314c.1310T>Cp.Met437ThrCatalytic DomainPathogenic05/16/2023SNVMissenseACADVL3-524801231, 325580702Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, Muscle weakness, Myalgia, Myoglobinuria, Myopathy, Neurogenic atrophy, RhabdomyolysisVLCAD1310Exon 13
ACADVL_0315c.1313G>Ap.Gly438GluCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL3-5325189241Cardiomyopathy, Elevated circulating creatine kinase concentration, RhabdomyolysisVLCAD1313Exon 13
ACADVL_0316c.1313G>Cp.Gly438AlaCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<3205473981VLCAD1313Exon 13
ACADVL_0317c.1316G>Ap.Gly439AspCatalytic DomainPathogenic05/16/2023SNVMissenseACADVL11-2017999356, 20060901, 23169530, 23480858, 27209629, 272487, 30194637, 31031081, 341947489Abnormality of metabolism/homeostasis, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, Hypoglycemia, Malaise/fatigue, Muscle spasm, Myalgia, Myoglobinuria, Pulmonary/respiratory, Urine discolorationVLCAD1316Exon 13
ACADVL_0318c.1316G>Cp.Gly439AlaCatalytic DomainPathogenic05/16/2023SNVMissenseACADVL<30VLCAD1316Exon 13
ACADVL_0319c.1316delp.Gly439Valfs*5Catalytic DomainPathogenic03/01/2023DeletionFrameshiftACADVL<3301946371VLCAD1316Exon 13
ACADVL_0320c.1322G>Cp.Gly441AlaCatalytic DomainPathogenic05/16/2023SNVMissenseACADVL3-5306176511VLCAD1322Exon 13
ACADVL_0321c.1322G>Ap.Gly441AspCatalytic DomainPathogenic05/16/2023SNVMissenseACADVL30+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, 954634026Abnormal liver morphology, Abnormality of metabolism/homeostasis, Arrhythmia, Autism/behavior, Cardiac-other, Cardiomyopathy, Dehydration, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Exercise intolerance, Feeding problems, Fever, Fussiness, Gowers sign, Hypertension, Hypoglycemia, Hypothermia, Hypotonia, Lethargy, Limpness in extremities, Malaise/fatigue, Muscle spasm, Muscle stiffness, Muscle weakness, Myalgia, Myoglobinuria, Neonatal decompensation, Pulmonary/respiratory, Rhabdomyolysis, Seizure, Subsequent electrolyte imbalance, Subvalvular aortic stenosis, Sweating, Swollen legs, Urine discoloration, VomitingVLCAD1322Exon 13
ACADVL_0322c.1328T>Gp.Met443ArgCatalytic DomainPathogenic05/16/2023SNVMissenseACADVL3-523480858, 27209629, 341947483Elevated circulating creatine kinase concentration, Hypoglycemia, Pulmonary/respiratoryVLCAD1328Exon 13
ACADVL_0323c.1328T>Cp.Met443ThrCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<3256520191Decreased liver functionVLCAD1328Exon 13
ACADVL_0324c.1332G>Ap.Lys444LysCatalytic DomainUncertain Significance03/01/2023SNVSilentACADVL<3243302851Abnormality of metabolism/homeostasis, Arrhythmia, Cardiac arrest, Diarrhea, Hypoglycemia, Pulmonary/respiratory, VomitingVLCAD1332Exon 13
ACADVL_0325c.1332+2T>AIntronicNot SpecifiedPathogenic03/01/2023SNVSplice donorACADVL<3301946371VLCAD1332Intron 13
ACADVL_0326c.1339G>Ap.Gly447ArgCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<317999356, 21378393, 22841441, 248986174MyopathyVLCAD1339Exon 14
ACADVL_0327c.1343T>Ap.Val448GluCatalytic DomainUncertain Significance03/01/2023SNVMissenseACADVL<3245031381VLCAD1343Exon 14
ACADVL_0328c.1345G>Cp.Glu449GlnCatalytic DomainUncertain Significance05/16/2023SNVMissenseACADVL<3316201611VLCAD1345Exon 14
ACADVL_0329c.1348C>Tp.Arg450CysCatalytic DomainLikely Pathogenic05/16/2023SNVMissenseACADVL<30VLCAD1348Exon 14
ACADVL_0330c.1349G>Ap.Arg450HisCatalytic DomainPathogenic05/16/2023SNVMissenseACADVL30+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, 954634027Abnormal liver morphology, Abnormality of metabolism/homeostasis, Cardiac-other, Coma, Decreased liver function, Developmental delay, Diarrhea, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Hypoglycemia, Hypotonia, Lethargy, Malaise/fatigue, Muscle spasm, Muscle stiffness, Myalgia, Myoglobinuria, Myopathy, Paleness, Pericardial effusion, Reye syndrome-like episodes, Rhabdomyolysis, Seizure, Slight increase of lipid content, Sweating, Swollen legs, VomitingVLCAD1349Exon 14
ACADVL_0331c.1357C>Tp.Arg453*Catalytic DomainPathogenic05/16/2023SNVNonsenseACADVL3-529268767, 354005652VLCAD1357Exon 14
ACADVL_0332c.1358G>Ap.Arg453GlnCatalytic DomainPathogenic05/16/2023SNVMissenseACADVL11-2017999356, 20060901, 30194637, 32272925, 32558070, 33986768, 99732857Abnormal liver morphology, Difficulty getting up, Diminished reflexes, Elevated circulating creatine kinase concentration, Exercise intolerance, Malaise/fatigue, Muscle weakness, RhabdomyolysisVLCAD1358Exon 14
ACADVL_0333c.1360G>Ap.Asp454AsnCatalytic DomainUncertain Significance05/16/2023SNVMissenseACADVL6-1025085675, 301946372VLCAD1360Exon 14
ACADVL_0334c.1366C>Tp.Arg456CysCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<3352816631VLCAD1366Exon 14
ACADVL_0335c.1366C>Gp.Arg456GlyCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<3320617781VLCAD1366Exon 14
ACADVL_0336c.1367G>Ap.Arg456HisCatalytic DomainPathogenic05/16/2023SNVMissenseACADVL6-1017206456, 17999356, 21378393, 21932095, 29268767, 30194637, 35281663, 99732858Abnormal liver morphology, Abnormality of metabolism/homeostasis, Decreased liver function, Elevated circulating creatine kinase concentration, Feeding intolerance, Fever, Gastrointestinal-other, Grunting, Hypertrophic cardiomyopathy, Hypoglycemia, Hypotonia, Pulmonary/respiratory, Steatosis, VomitingVLCAD1367Exon 14
ACADVL_0337c.1370T>Ap.Ile457AsnCatalytic DomainUncertain Significance03/01/2023SNVMissenseACADVL3-521932095, 23430948, 301946373Abnormality of metabolism/homeostasis, Cardiomyopathy, Dehydration, Diarrhea, Disseminated intravascular coagulation, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, Fever, Hypoglycemia, Ketonuria, Lethargy, Seizure, VomitingVLCAD1370Exon 14
ACADVL_0338c.1370T>Cp.Ile457ThrCatalytic DomainUncertain Significance05/16/2023SNVMissenseACADVL<30VLCAD1370Exon 14
ACADVL_0339c.1372T>Cp.Phe458LeuCatalytic DomainPathogenic03/01/2023SNVMissenseACADVL3-510077518, 10738914, 97097143Abnormal liver morphology, Abnormality of metabolism/homeostasis, Cardiac-other, Dehydration, Diaphoresis, Diarrhea, Difficulties in mastication, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, Gastrointestinal-other, Hyperammonemia, Hyperreflexia, Hypertrophy, Hypoglycemia, Hypotonia, Irritability, Lethargy, Lipid accumulation, Malaise/fatigue, Myalgia, Myoglobinuria, Pericardial effusion, Progressive obtundation, Pulmonary/respiratory, VomitingVLCAD1372Exon 14
ACADVL_0340c.1375C>Tp.Arg459TrpCatalytic DomainLikely Pathogenic05/16/2023SNVMissenseACADVL6-1010738914, 21932095, 25085675, 272096294Elevated circulating creatine kinase concentration, RhabdomyolysisVLCAD1375Exon 14
ACADVL_0341c.1375dupp.Arg459Profs*4Catalytic DomainPathogenic05/16/2023DuplicationFrameshiftACADVL3-5361097951Myalgia, Myopathy, RhabdomyolysisVLCAD1375Exon 14
ACADVL_0342c.1376G>Ap.Arg459GlnCatalytic DomainPathogenic05/16/2023SNVMissenseACADVL21-3014517516, 19327992, 21429517, 23798014, 25214167, 30194637, 309045467Autism/behavior, Developmental delay, Elevated circulating creatine kinase concentration, Exercise intolerance, Myalgia, Myoglobinuria, Speech -language delaysVLCAD1376Exon 14
ACADVL_0343c.1384G>Ap.Glu462LysActive Site (Proton acceptor)Likely Pathogenic03/01/2023SNVMissenseACADVL<317999356, 213783932VLCAD1384Exon 14
ACADVL_0344c.1387G>Ap.Gly463ArgSubstrate Binding Site (substrate)Likely Pathogenic03/01/2023SNVMissenseACADVL<3317947631Abnormal liver morphology, Abnormality of metabolism/homeostasis, Cardiomyopathy, Coma, Decreased liver function, Elevated circulating creatine kinase concentration, Hypoglycemia, Lethargy, MyopathyVLCAD1387Exon 14
ACADVL_0345c.1388G>Ap.Gly463GluSubstrate Binding Site (substrate)Likely Pathogenic03/01/2023SNVMissenseACADVL3-516895136, 28871440, 329286393Muscle spasm, Muscle weakness, Myoglobinuria, SeizureVLCAD1388Exon 14
ACADVL_0346c.1389dupp.Thr464Aspfs*3FAD Binding SitePathogenic05/16/2023DuplicationFrameshiftACADVL<30VLCAD1389Exon 14
ACADVL_0347c.1391C>Ap.Thr464LysFAD Binding SiteUncertain Significance03/01/2023SNVMissenseACADVL<3250856751Abnormal liver morphology, Cardiomyopathy, Hypertrophy, HypoglycemiaVLCAD1391Exon 14
ACADVL_0348c.1396G>Tp.Asp466TyrFAD Binding SiteLikely Pathogenic03/01/2023SNVMissenseACADVL3-524801231, 31844625, 335148013Abnormal liver morphology, Cardiac-other, Hypoglycemia, Hypotonia, Paleness, Pericardial effusionVLCAD1396Exon 14
ACADVL_0349c.1400T>Cp.Ile467ThrCatalytic DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<3279430701Hypotonia, Malaise/fatigue, Sudden deathVLCAD1400Exon 14
ACADVL_0350c.1405C>Tp.Arg469TrpCatalytic DomainPathogenic05/16/2023SNVMissenseACADVL11-2012208138, 17999356, 21932095, 27246109, 30194637, 99732856Decreased body weight, Hypoglycemia, HypotoniaVLCAD1405Exon 14
ACADVL_0351c.1406G>Ap.Arg469GlnCatalytic DomainPathogenic05/16/2023SNVMissenseACADVL11-2017514507, 20480395, 23798014, 24305961, 25834949, 26881790, 34194748, 36109795, 99732859Arrhythmia, Elevated circulating creatine kinase concentration, Hypoglycemia, Hypotonia, Malaise/fatigue, Muscle stiffness, Myalgia, Myoglobinuria, Nausea, Urine discolorationVLCAD1406Exon 14
ACADVL_0352c.1411T>Cp.Phe471LeuCatalytic DomainUncertain Significance03/01/2023SNVMissenseACADVL3-524305961, 258349492Malaise/fatigueVLCAD1411Exon 14
ACADVL_0353c.1412_1413delp.Phe471Cysfs*90Catalytic DomainLikely Pathogenic03/01/2023DeletionFrameshiftACADVL<3301946371VLCAD1412Exon 14
ACADVL_0354c.1430G>Ap.Cys477TyrCatalytic DomainPathogenic03/01/2023SNVMissenseACADVL<310738914, 20668622Abnormal liver morphology, Abnormality of metabolism/homeostasis, Elevated circulating creatine kinase concentration, Hypoglycemia, Hypoketotic, Muscle weakness, Myoglobinuria, Reye syndrome-like episodesVLCAD1430Exon 14
ACADVL_0355c.1434G>Ap.Met478IleCatalytic DomainUncertain Significance03/01/2023SNVMissenseACADVL<3309045461VLCAD1434Exon 14
ACADVL_0356c.1434+2T>CIntronicNot SpecifiedPathogenic03/01/2023SNVSplice donorACADVL<3309045461VLCAD1434Intron 14
ACADVL_0357c.1434+4delIntronicNot SpecifiedUncertain Significance03/01/2023DeletionSplice regionACADVL<3219320951VLCAD1434Intron 14
ACADVL_0358c.1434+14T>CIntronicNot SpecifiedUncertain Significance05/16/2023SNVIntronicACADVL<30VLCAD1434Intron 14
ACADVL_0359c.1434+14T>AIntronicNot SpecifiedUncertain Significance03/01/2023SNVIntronicACADVL<3310310811Cardiac-other, Diarrhea, Jaundice, VomitingVLCAD1434Intron 14
ACADVL_0360c.1435G>Ap.Asp479AsnCatalytic DomainUncertain Significance05/16/2023SNVMissenseACADVL<30VLCAD1435Exon 15
ACADVL_0361c.1443A>Tp.Gly481=Catalytic DomainUncertain Significance03/01/2023SNVSilentACADVL<3279430701RhabdomyolysisVLCAD1443Exon 15
ACADVL_0362c.1444_1448delp.Lys482Alafs*78Modified residue(N6-acetyllysine)Pathogenic03/01/2023DeletionFrameshiftACADVL<324305961, 268817902Elevated circulating creatine kinase concentrationVLCAD1444Exon 15
ACADVL_0363c.1444_1448del-c.1511_1516delp.Lys482Alafs*78-p.Glu504_Ala505delModified residue(N6-acetyllysine)Pathogenic03/01/2023DeletionFrameshiftACADVL3-525834949, 324634822Elevated circulating creatine kinase concentrationVLCAD1444Exon 15
ACADVL_0364c.1468G>Cp.Ala490ProMembrane-anchoring DomainPathogenic05/16/2023SNVMissenseACADVL6-1010077518, 14517516, 17457695, 26453363, 301946375Abnormality of the liver, Elevated circulating creatine kinase concentration, MyalgiaVLCAD1468Exon 15
ACADVL_0365c.1496G>Tp.Gly499ValMembrane-anchoring DomainUncertain Significance05/16/2023SNVMissenseACADVL<30VLCAD1496Exon 15
ACADVL_0366c.1500_1502delp.Leu502delMembrane-anchoring DomainPathogenic03/01/2023DeletionDeletionACADVL21-3016488171, 19327992, 24765510, 25456746, 27246109, 27943070, 28871440, 30194637, 32793418, 3292863910Abnormality of metabolism/homeostasis, Dizziness, Elevated circulating creatine kinase concentration, Exercise intolerance, Mobilization difficulties, Muscle spasm, Myalgia, Myoglobinuria, Renal insufficiency/failure, Rhabdomyolysis, Urine discolorationVLCAD1500Exon 15
ACADVL_0367c.1501C>Tp.Leu501LeuMembrane-anchoring DomainUncertain Significance03/01/2023SNVSilentACADVL<3272096291VLCAD1501Exon 15
ACADVL_0368c.1502T>Cp.Leu501ProMembrane-anchoring DomainUncertain Significance03/01/2023SNVMissenseACADVL3-5293739901Hypertrophic cardiomyopathy, Sudden deathVLCAD1502Exon 15
ACADVL_0369c.1504C>Gp.Leu502ValMembrane-anchoring DomainLikely Pathogenic03/01/2023SNVMissenseACADVL3-523867825, 27209629, 310310813Decreased body weight, Dizziness, Elevated circulating creatine kinase concentration, Exercise intolerance, Gastrointestinal-other, Malaise/fatigue, Poor feeding, VomitingVLCAD1504Exon 15
ACADVL_0370c.1505T>Ap.Leu502GlnMembrane-anchoring DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<316880373, 179993562Abnormality of metabolism/homeostasis, Diminished reflexes, Hypotonia, Muscle weakness, Myalgia, Myopathy, Pulmonary/respiratory, Rhabdomyolysis, Urine discolorationVLCAD1505Exon 15
ACADVL_0371c.1505T>Cp.Leu502ProMembrane-anchoring DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<319327992, 272096292RhabdomyolysisVLCAD1505Exon 15
ACADVL_0372c.1511_1516delp.Glu504_Ala505delMembrane-anchoring DomainPathogenic03/01/2023DeletionDeletionACADVL3-524305961, 25834949, 26881790, 324634824Elevated circulating creatine kinase concentrationVLCAD1511Exon 15
ACADVL_0373c.1512G>Tp.Glu504AspMembrane-anchoring DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<317999356, 21378393, 248986173VLCAD1512Exon 15
ACADVL_0374c.1512G>Cp.Glu504AspMembrane-anchoring DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<3164434311Coarse, Malaise/fatigue, Muscle weakness, Myalgia, Myoglobinuria, Sweating, Urine discolorationVLCAD1512Exon 15
ACADVL_0375c.1522C>Tp.Gln508*Membrane-anchoring DomainPathogenic03/01/2023SNVNonsenseACADVL<3318935301VLCAD1522Exon 15
ACADVL_0376c.1531C>Tp.Arg511TrpMembrane-anchoring DomainPathogenic05/16/2023SNVMissenseACADVL6-1017999356, 23798014, 350959983VLCAD1531Exon 15
ACADVL_0377c.1532G>Cp.Arg511ProMembrane-anchoring DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<3272096291Elevated circulating creatine kinase concentrationVLCAD1532Exon 15
ACADVL_0378c.1532G>Ap.Arg511GlnMembrane-anchoring DomainPathogenic05/16/2023SNVMissenseACADVL6-1018670371, 21932095, 25652019, 27209629, 29519241, 354005656Decreased liver function, Distress, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, RhabdomyolysisVLCAD1532Exon 15
ACADVL_0379c.1538C>Gp.Ala513GlyMembrane-anchoring DomainUncertain Significance03/01/2023SNVMissenseACADVL<3339867681Ataxia, Axial hypotonia, Obstructive hypopnea, Pale optic papillae, Symmetrical mild hypermetropiaVLCAD1538Exon 16
ACADVL_0380c.1541G>Ap.Gly514GluMembrane-anchoring DomainLikely Pathogenic03/01/2023SNVMissenseACADVL<323480858, 301946372VLCAD1541Exon 16
ACADVL_0381c.1552G>Ap.Gly518SerNot SpecifiedUncertain Significance03/01/2023SNVMissenseACADVL<3310310811Dehydration, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, Poor oral intake, VomitingVLCAD1552Exon 16
ACADVL_0382c.1557delp.Ser520Valfs*10Not SpecifiedPathogenic03/01/2023DeletionFrameshiftACADVL3-5325189241Abnormal liver morphology, Cardiomyopathy, Elevated circulating creatine kinase concentration, RhabdomyolysisVLCAD1557Exon 16
ACADVL_0383c.1567G>Ap.Gly523ArgNot SpecifiedUncertain Significance05/16/2023SNVMissenseACADVL3-5287476901VLCAD1567Exon 16
ACADVL_0384c.1586_1590delp.Leu529Serfs*31Not SpecifiedPathogenic03/01/2023DeletionFrameshiftACADVL<3317947631Abnormal liver morphology, Abnormality of metabolism/homeostasis, Coma, Decreased liver function, Hypoglycemia, LethargyVLCAD1586Exon 16
ACADVL_0385c.1591C>Tp.Arg531TrpNot SpecifiedPathogenic05/16/2023SNVMissenseACADVL3-521932095, 28468868, 31031081, 352816594Decelerations, Decreased body weight, Decreased movements, Hypoglycemia, Hypothermia, Poor feeding, VomitingVLCAD1591Exon 16
ACADVL_0386c.1600G>Ap.Glu534LysNot SpecifiedLikely Benign03/01/2023SNVMissenseACADVL6-1010077518, 263853052VLCAD1600Exon 16
ACADVL_0387c.1605+1G>TIntronicNot SpecifiedPathogenic03/01/2023SNVSplice donorACADVL<321932095, 248012312Abnormal liver morphology, Developmental delay, Hypoglycemia, SeizureVLCAD1605Intron 16
ACADVL_0388c.1605+1G>AIntronicNot SpecifiedPathogenic05/16/2023SNVSplice donorACADVL<30VLCAD1605Intron 16
ACADVL_0389c.1605+3A>GIntronicNot SpecifiedUncertain Significance05/16/2023SNVSplice regionACADVL<30VLCAD1605Intron 16
ACADVL_0390c.1605+6_1605+7invIntronicNot SpecifiedUncertain Significance05/16/2023DelinsSplice regionACADVL<30VLCAD1605Intron 16
ACADVL_0391c.1606-3_1606-2delIntronicNot SpecifiedPathogenic03/01/2023DeletionACADVL<311131350, 11914034, 179993563Abnormal liver morphology, Cardiac-other, Dyspnoea, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, Fever, Hypoketotic hypoglycemia, Lethargy, Muscle stiffness, Poor appetite, Pulmonary/respiratory, Stupor, VomitingVLCAD1606Intron 16
ACADVL_0392c.1612C>Tp.Arg538TrpNot SpecifiedUncertain Significance05/16/2023SNVMissenseACADVL<30VLCAD1612Exon 17
ACADVL_0393c.1613G>Cp.Arg538ProNot SpecifiedLikely Pathogenic05/16/2023SNVMissenseACADVL3-519327992, 27209629, 341947483Abnormal liver morphology, Elevated circulating creatine kinase concentration, Exercise intolerance, Hypoglycemia, Myalgia, Myoglobinuria, RhabdomyolysisVLCAD1613Exon 17
ACADVL_0394c.1616C>Ap.Ala539AspNot SpecifiedLikely Pathogenic05/16/2023SNVMissenseACADVL3-5279430701Neurological distressVLCAD1616Exon 17
ACADVL_0395c.1617T>Cp.Ala539AlaNot SpecifiedUncertain Significance03/01/2023SNVSilentACADVL<3272096291Elevated circulating creatine kinase concentration, Hypoglycemia, Lethargy, Prematurity distress, RhabdomyolysisVLCAD1617Exon 17
ACADVL_0396c.1619T>Cp.Leu540ProNot SpecifiedPathogenic03/01/2023SNVMissenseACADVL6-1023480858, 28871440, 30445591, 32928639, 34194748, 34638902, 360780437VLCAD1619Exon 17
ACADVL_0397c.1621G>Ap.Glu541LysNot SpecifiedUncertain Significance05/16/2023SNVMissenseACADVL<30VLCAD1621Exon 17
ACADVL_0398c.1621delp.Glu541Serfs*11Not SpecifiedPathogenic03/01/2023DeletionFrameshiftACADVL<3100775181MyopathyVLCAD1621Exon 17
ACADVL_0399c.1639G>Ap.Val547MetNot SpecifiedPathogenic03/01/2023SNVMissenseACADVL6-1018670371, 29552494, 30023301, 31372341, 31844625, 32939699, 354005657Autism/behavior, Bronchial asthma, Developmental delay, Elevated circulating creatine kinase concentration, Hypoglycemia, Malaise/fatigue, Myalgia, Myoglobinuria, Rhabdomyolysis, SeizureVLCAD1639Exon 17
ACADVL_0400c.1666_1668delp.Lys556delModified residue(N6-acetyllysine)Likely Pathogenic03/01/2023DeletionDeletionACADVL<3301946371VLCAD1666Exon 17
ACADVL_0401c.1673T>Cp.Ile558ThrNot SpecifiedUncertain Significance05/16/2023SNVMissenseACADVL<331191348, 325580702Contractures, Elevated circulating creatine kinase concentration, Myalgia, Renal insufficiency/failure, RhabdomyolysisVLCAD1673Exon 17
ACADVL_0402c.1678+1G>CIntronicNot SpecifiedPathogenic03/01/2023SNVSplice donorACADVL<3352816591VLCAD1678Intron 17
ACADVL_0403c.1678+3_1678+6delIntronicNot SpecifiedLikely Pathogenic05/16/2023DeletionSplice regionACADVL3-5275909261VLCAD1678Intron 17
ACADVL_0404c.1678+4A>TIntronicNot SpecifiedUncertain Significance05/16/2023SNVSplice regionACADVL<3301946371VLCAD1678Intron 17
ACADVL_0405c.1678+19_1678+31delIntronicNot SpecifiedUncertain Significance03/01/2023DeletionIntronicACADVL<3352816631VLCAD1678Intron 17
ACADVL_0406c.1679-6G>AIntronicNot SpecifiedPathogenic05/16/2023SNVACADVL11-2012122118, 23480858, 27590926, 27943070, 34194748, 9709714, 99732857Abnormal liver morphology, Abnormality of metabolism/homeostasis, Cardiac-other, Decreased body weight, Developmental delay, Diaphoresis, Diarrhea, Elevated circulating creatine kinase concentration, Hepatic failure, Hyperreflexia, Hypertrophic cardiomyopathy, Hypertrophy, Hypoglycemia, Hypothermia, Hypotonia, Irritability, Lethargy, Malaise/fatigue, Muscle weakness, Myalgia, Pericardial effusion, Poor feeding, Pulmonary/respiratory, Rhabdomyolysis, VomitingVLCAD1679Intron 17
ACADVL_0407c.1679_1680insCAGAp.Glu561Argfs*2Not SpecifiedPathogenic03/01/2023DuplicationFrameshiftACADVL<388458381Abnormality of metabolism/homeostasis, Hypocarnitinemia, Hypothermia, Hypotonia, LethargyVLCAD1679Exon 18
ACADVL_0408c.1684_1685delp.Gln562Valfs*29FAD Binding SitePathogenic05/16/2023DeletionFrameshiftACADVL<3317947631Abnormal liver morphology, Abnormality of metabolism/homeostasis, Cardiomyopathy, Coma, Decreased liver function, Elevated circulating creatine kinase concentration, Hypoglycemia, Lethargy, MyopathyVLCAD1684Exon 18
ACADVL_0409c.1699C>Tp.Arg567TrpNot SpecifiedLikely Pathogenic03/01/2023SNVMissenseACADVL<3352816591VLCAD1699Exon 18
ACADVL_0410c.1700G>Ap.Arg567GlnNot SpecifiedPathogenic05/16/2023SNVMissenseACADVL11-2023480858, 23798014, 29268767, 30194637, 32061778, 32518924, 361097957Elevated circulating creatine kinase concentration, Myopathy, RhabdomyolysisVLCAD1700Exon 18
ACADVL_0411c.1711G>Ap.Gly571ArgNot SpecifiedLikely Pathogenic03/01/2023SNVMissenseACADVL<327246109, 331236332VLCAD1711Exon 18
ACADVL_0412c.1707_1715dupp.Asp570_Ala572dupNot SpecifiedLikely Pathogenic03/01/2023DuplicationInsertionACADVL<334638902, 360780432VLCAD1707Exon 18
ACADVL_0413c.1708_1716dupp.Asp570_Ala572dupNot SpecifiedLikely Pathogenic03/01/2023DuplicationInsertionACADVL<328871440, 32928639, 341947483VLCAD1708Exon 18
ACADVL_0414c.1708_1717dupp.Ile573Argfs*22Not SpecifiedPathogenic03/01/2023DuplicationFrameshiftACADVL3-523480858, 27209629, 304455913Elevated circulating creatine kinase concentration, Hypoglycemia, Lethargy, Prematurity distress, RhabdomyolysisVLCAD1708Exon 18
ACADVL_0415c.1733T>Cp.Met578ThrNot SpecifiedUncertain Significance03/01/2023SNVMissenseACADVL<3361097951MyalgiaVLCAD1733Exon 18
ACADVL_0416c.1748C>Gp.Ser583TrpNot SpecifiedLikely Pathogenic05/16/2023SNVMissenseACADVL<3301946371VLCAD1748Exon 18
ACADVL_0417c.1748C>Tp.Ser583LeuNot SpecifiedPathogenic05/16/2023SNVMissenseACADVL6-1015210884, 23774949, 30612563, 325189244Abnormal liver morphology, Elevated circulating creatine kinase concentration, Hypoglycemia, Muscle stiffness, RhabdomyolysisVLCAD1748Exon 18
ACADVL_0418c.1751+1G>AIntronicNot SpecifiedPathogenic03/01/2023SNVSplice donorACADVL<3237002901Cardiac-other, HypoglycemiaVLCAD1751Intron 18
ACADVL_0419c.1752-2_1755delIntronicNot SpecifiedPathogenic03/01/2023DeletionSplice acceptorACADVL<328755359, 352816632VLCAD1752Exon 19, Intron 18
ACADVL_0420c.1754C>Tp.Ala585ValNot SpecifiedUncertain Significance03/01/2023SNVMissenseACADVL<3252141671VLCAD1754Exon 19
ACADVL_0421c.1754C>Ap.Ala585AspNot SpecifiedUncertain Significance05/16/2023SNVMissenseACADVL<30VLCAD1754Exon 19
ACADVL_0422c.1770_1773delp.Ser590Argfs*89Modified residue(Phosphoserine)Pathogenic03/01/2023DeletionFrameshiftACADVL3-526927351, 295192412Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, RhabdomyolysisVLCAD1770Exon 19
ACADVL_0423c.1793A>Gp.His598ArgNot SpecifiedUncertain Significance03/01/2023SNVMissenseACADVL<3354005651VLCAD1793Exon 19
ACADVL_0424c.1795G>Ap.Glu599LysNot SpecifiedUncertain Significance03/01/2023SNVMissenseACADVL<3256520191Abnormal liver morphology, Decreased liver function, Developmental delay, Diarrhea, Elevated circulating creatine kinase concentration, Hypoglycemia, Lethargy, Seizure, VomitingVLCAD1795Exon 19
ACADVL_0425c.1800A>Cp.Lys600AsnNot SpecifiedUncertain Significance03/01/2023SNVMissenseACADVL<3152108841Malaise/fatigue, MyalgiaVLCAD1800Exon 19
ACADVL_0426c.1800A>Tp.Lys600AsnNot SpecifiedUncertain Significance03/01/2023SNVMissenseACADVL<3354005651VLCAD1800Exon 19
ACADVL_0427c.1801delp.Met601Cysfs*79Not SpecifiedPathogenic03/01/2023DeletionFrameshiftACADVL3-511914034, 15210884, 17999356, 20060901, 354005655Elevated circulating creatine kinase concentration, Lethargy, Malaise/fatigue, Muscle stiffness, Muscle weakness, Myalgia, Myopathy, Urine discolorationVLCAD1801Exon 19
ACADVL_0428c.1803G>Ap.Met601IleNot SpecifiedUncertain Significance05/16/2023SNVMissenseACADVL<30VLCAD1803Exon 19
ACADVL_0429c.1804C>Ap.Leu602IleNot SpecifiedLikely Pathogenic03/01/2023SNVMissenseACADVL<388458381Abnormal liver morphology, Cardiomyopathy, Hypoglycemia, Hypotonia, Lethargy, Pulmonary/respiratoryVLCAD1804Exon 19
ACADVL_0430c.1806_1807delp.Cys603*Not SpecifiedPathogenic03/01/2023DeletionFrameshiftACADVL<3272096291Abnormality of metabolism/homeostasis, Arrhythmia, Cardiomyopathy, Distress, Hypoglycemia, Hypothermia, Hypotonia, Lethargy, Pulmonary/respiratoryVLCAD1806Exon 19
ACADVL_0431c.1807dupp.Cys603Leufs*2Not SpecifiedPathogenic03/01/2023DuplicationFrameshiftACADVL<3275909261Cardiac arrest, Cardiac-other, Dilated cardiomyopathy, HypoglycemiaVLCAD1807Exon 19
ACADVL_0432c.1814_1815delp.Thr605Metfs*19Not SpecifiedPathogenic03/01/2023DeletionFrameshiftACADVL<3301946371VLCAD1814Exon 19
ACADVL_0433c.1816T>Cp.Trp606ArgNot SpecifiedUncertain Significance03/01/2023SNVMissenseACADVL<3352816591VLCAD1816Exon 19
ACADVL_0434c.1818G>Ap.Trp606*Not SpecifiedPathogenic05/16/2023SNVNonsenseACADVL<30VLCAD1818Exon 19
ACADVL_0435c.1820G>Cp.Cys607SerNot SpecifiedLikely Pathogenic05/16/2023SNVMissenseACADVL<3287476901VLCAD1820Exon 19
ACADVL_0436c.1825G>Ap.Glu609LysNot SpecifiedLikely Pathogenic03/01/2023SNVMissenseACADVL3-530445591, 34638902, 360780433VLCAD1825Exon 19
ACADVL_0437c.1827+1G>AIntronicNot SpecifiedPathogenic03/01/2023SNVSplice donorACADVL<3301946371VLCAD1827Intron 19
ACADVL_0438c.1837C>Tp.Arg613TrpNot SpecifiedPathogenic05/16/2023SNVMissenseACADVL21-3010077518, 16183823, 17999356, 19327992, 20547398, 27943070, 28871440, 29111448, 30194637, 32928639, 33123633, 33986768, 34194748, 35281659, 4022672, 7479827, 7769092, 855407318Abnormal liver morphology, Abnormality of the liver, Cardiac-other, Coma, Diarrhea, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Exercise intolerance, Fever, Hypoglycemia, Hypoketotic hypoglycemia, Hypotension, Hypotonia, Lethargy, Leukocytopenia, Malaise/fatigue, Myalgia, Myoglobinuria, Pulmonary/respiratory, Rhabdomyolysis, Sudden death, Thrombocytopenia, VomitingVLCAD1837Exon 20
ACADVL_0439c.1838G>Ap.Arg613GlnNot SpecifiedPathogenic05/16/2023SNVMissenseACADVL3-530194637, 352816592VLCAD1838Exon 20
ACADVL_0440c.1838G>Cp.Arg613ProNot SpecifiedLikely Pathogenic03/01/2023SNVMissenseACADVL3-516183823, 352816592Developmental delayVLCAD1838Exon 20
ACADVL_0441c.1843C>Tp.Arg615*Not SpecifiedPathogenic03/01/2023SNVNonsenseACADVL3-510431122, 11596652, 27029698, 29111448, 335148015Abnormal liver morphology, Abnormality of metabolism/homeostasis, Diarrhea, Diminished reflexes, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, Feeding difficulties, Fever, Hypertrophic cardiomyopathy, Hypoglycemia, Lethargy, Myoglobinuria, VomitingVLCAD1843Exon 20
ACADVL_0442c.1844G>Ap.Arg615GlnNot SpecifiedLikely Pathogenic03/01/2023SNVMissenseACADVL11-2010077518, 17999356, 21378393, 21932095, 26453363, 27209629, 28755359, 30194637, 35281663, 3562628910Abnormality of metabolism/homeostasis, Arrhythmia, Hypoglycemia, Pulmonary/respiratoryVLCAD1844Exon 20
ACADVL_0443c.1848G>Cp.Glu616AspNot SpecifiedUncertain Significance05/16/2023SNVMissenseACADVL<30VLCAD1848Exon 20
ACADVL_0444c.1894C>Tp.Arg632CysNot SpecifiedUncertain Significance05/16/2023SNVMissenseACADVL6-1027209629, 28798025, 352816593VLCAD1894Exon 20
ACADVL_0445c.1913C>Tp.Ser638PheNot SpecifiedUncertain Significance05/16/2023SNVMissenseACADVL<3275909261Abnormal liver morphology, Cardiac-other, Hypoglycemia, Hypotensia, Pulmonary/respiratoryVLCAD1913Exon 20
ACADVL_0446c.1918_1921delp.Ala640Trpfs*39Not SpecifiedPathogenic03/01/2023DeletionFrameshiftACADVL<317999356, 200609012VLCAD1918Exon 20
ACADVL_0447c.1923G>Cp.Leu641PheNot SpecifiedLikely Pathogenic05/16/2023SNVMissenseACADVL3-527246109, 310310812VLCAD1923Exon 20
ACADVL_0448c.1924G>Ap.Val642MetNot SpecifiedUncertain Significance03/01/2023SNVMissenseACADVL<3310310811Bilateral branch pulmonary artery stenosis, Cardiac-other, Decelerations, Decreased body weight, Decreased liver function, Jaundice, Pulmonary/respiratory, VomitingVLCAD1924Exon 20
ACADVL_0449c.1966T>Ap.*656Argext*54Not SpecifiedUncertain Significance03/01/2023SNVExtensionACADVL<3301946371VLCAD1966Exon 20
ACADVL_0450c.1968A>Cp.*656Cysext*54Not SpecifiedUncertain Significance03/01/2023SNVExtensionACADVL<3272096291VLCAD1968Exon 20
    Notes:
  • * 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.
    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

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