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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Lipid Metabolism, Inborn Errors (D008052)
Parent Node: Mitochondrial Diseases (D028361)
Parent Node: Muscular Diseases (D009135)
..Starting node ..VLCAD deficiency (C536353)
Child Nodes:
Sister Nodes:
..Alpha-B Crystallinopathy (C563848)
..Anal Sphincter Myopathy, Internal (C566287)
..Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy (C565945)
..Arthrogryposis (D001176) 55
..Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia (C537974)
..Carnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461) L: 00486;
..Chanarin-Dorfman Syndrome (C536560)
..Compartment Syndromes (D003161) 3
..Contracture (D003286) 41
..Craniomandibular Disorders (D017271) 4
..Dimauro disease (C536176)
..EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 (OMIM:614557)
..Encephalopathy, Axonal, with Necrotizing Myopathy, Cardiomyopathy, and Cataracts (C565596)
..Eosinophilia-Myalgia Syndrome (D016603)
..Epiphyseal Dysplasia, Multiple, with Myopathy (C563420)
..Erythrocyte Amp Deaminase Deficiency (C567878)
..Erythrocyte Lactate Transporter Defect (C565449)
..Fatigue Syndrome, Chronic (D015673)
..Fibromyalgia (D005356)
..Fingerprint Body Myopathy (C564425)
..Hereditary Myopathy with Early Respiratory Failure (C566343)
..Hypertrophia Musculorum Vera (C564152)
..Isaacs Syndrome (D020386)
..Kocher-Debre-Semelaigne syndrome (C537211)
..Marinesco-Sjogren-like syndrome (MSLS) (C535913)
..Medial Tibial Stress Syndrome (D058923)
..Mitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..Mitochondrial Myopathies (D017240) 33 C:22 L: 00400;
..Muscle Cramp (D009120) 3
..MUSCLE HYPERTROPHY (OMIM:614160)
..Muscle Neoplasms (D019042)
..Muscle Rigidity (D009127) 3
..Muscle Spasticity (D009128) 17
..Muscle Weakness (D018908) 5 C:2
..Muscular Disorders, Atrophic (D020966) 120 C:1
..Muscular Hypoplasia, Congenital Universal, of Krabbe (C563553)
..Musculoskeletal Pain (D059352) 2
..Myalgia (D063806)
..Myofascial Pain Syndromes (D009209) 1
..Myopathic carnitine deficiency (C536100)
..Myopathies, Structural, Congenital (D020914) 34
..Myopathy due to Malate-Aspartate Shuttle Defect (C564973)
..MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY (OMIM:615511)
..Myopathy with Giant Abnormal Mitochondria (C564971)
..Myopathy with Lactic Acidosis, Hereditary (C564972) L: 00476;
..Myopathy, Cataract, Hypogonadism Syndrome (C563578)
..Myopathy, congenital nonprogressive with Moebius and Robin sequences (C536102)
..Myopathy, Congenital, With Excess Of Muscle Spindles (C566896)
..Myopathy, Early-Onset, with Fatal Cardiomyopathy (C567129)
..Myopathy, Granulovacuolar Lobular, with Electrical Myotonia (C564974)
..Myopathy, Hyaline Body, Autosomal Recessive (C564970)
..Myopathy, Myosin Storage (C564253)
..Myopathy, Reducing Body, X-Linked, Childhood-Onset (C567468)
..Myopathy, Reducing Body, X-Linked, Early-Onset, Severe (C567469)
..Myopathy, X-Linked, with Excessive Autophagy (C564093)
..Myositis (D009220) 16
..Myostatin-related muscle hypertrophy (C536106)
..Myotonic Disorders (D020967) 10
..Neutral Lipid Storage Disease with Myopathy (C565192)
..Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)
..Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..Paralyses, Familial Periodic (D010245) 7
..Pectoralis Muscle, Absence of (C566793)
..PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS (OMIM:614369)
..Polymyalgia Rheumatica (D011111)
..Proximal Myopathy with Focal Depletion of Mitochondria (C563453)
..Rhabdomyolysis (D012206) 6 C:2
..Rippling muscle disease, 1 (C535686)
..Secretory Diarrhea, Myopathy, and Deafness (C564382)
..Singleton Merten syndrome (C537343)
..Systemic carnitine deficiency (C536778) L: 00473;
..Tel Hashomer camptodactyly syndrome (C536953)
..Tendinopathy (D052256) 5
..Treft Sanborn Carey syndrome (C536544)
..Uruguay Faciocardiomusculoskeletal Syndrome (C564544)
..Vacuolar myopathy (C536522)
..VLCAD deficiency (C536353) L: 00436;
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

12742

Name:

VLCAD deficiency

Definition:

Alternative IDs:

OMIM:201475

ParentIDs:

MESH:D008052|MESH:D009135|MESH:D028361

TreeNumbers:

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

Synonyms:

Slim Mappings:

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

Reference:

MedGen: C536353
MeSH: C536353
OMIM: 201475;
MSeqDR : 00436;
Genes: ACADVL;

Phenotypes

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

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_001608.4(ACADL):c.*621G>A	33	ACADL	Uncertain significance	886055550	RCV000332204;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	2	211053064	211053064	2:g.211053064C>T	ClinGen:CA10613968	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_001608.4(ACADL):c.928_933delinsCATGAATGTTATGTTT (p.Thr310fs)	33	ACADL	Conflicting interpretations of pathogenicity	1559636157	RCV000779299\|RCV002275156;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	2	211068106	211068111	NC_000002.11:g.211068106_211068111delinsAAACATAACATTCATG	-
NM_001608.4(ACADL):c.24dup (p.Ser9fs)	33	ACADL	Uncertain significance	764706552	RCV000779300;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	2	211089963	211089964	NC_000002.11:g.211089966dup	-
NC_000017.10:g.(?_6589506)_(7128436_?)del	37	ACADVL	Pathogenic	-1	RCV001391032;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	6589506	7128436	-1	-
NM_001321075.3(DLG4):c.-27C>T	37	ACADVL	Uncertain significance	1555526472	RCV000673715;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7120493	7120493	17:g.7120493G>A	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_001270447.2(ACADVL):c.52A>G (p.Ile18Val)	37	ACADVL	Uncertain significance	730880036	RCV000157090\|RCV000666003\|RCV003422050;	N	MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7121058	7121058	NC_000017.10:g.7121058A>G	ClinGen:CA346141	C0949658 Primary familial hypertrophic cardiomyopathy;
NM_001365.5(DLG4):c.159+489GCTTCT[3]	37	ACADVL	Uncertain significance	1555526655	RCV000665391;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7121059	7121060		-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_001365.5(DLG4):c.159+487G>A	37	ACADVL	Uncertain significance	1237915800	RCV000665785;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7121073	7121073		-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_001365.5(DLG4):c.159+472G>A	37	ACADVL	Uncertain significance	1555526667	RCV000673132;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7121088	7121088		-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_001365.5(DLG4):c.159+465C>T	37	ACADVL	Uncertain significance	1555526671	RCV000668479;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7121095	7121095		-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_001365.5(DLG4):c.159+439_159+444dup	37	ACADVL	Uncertain significance	1258394272	RCV000664571;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7121115	7121116		-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_001365.5(DLG4):c.159+435_159+439del	37	ACADVL	Uncertain significance	1178274476	RCV000673163;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7121121	7121125		-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.3(ACADVL):c.-132C>T	37	ACADVL	Uncertain significance	886053371	RCV000400753;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123172	7123172	NC_000017.10:g.7123172C>T	ClinGen:CA10650011	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.3(ACADVL):c.-65_-64insCGGGCGTGCAGGACG	37	ACADVL	Uncertain significance	1555527385	RCV000668084;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123232	7123233	17:g.7123232_7123233insCAGGACGCGGGCGTG	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.-72_-71insGAGGACGTGGGCGTG	37	ACADVL	Uncertain significance	1555527381	RCV000668330;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123232	7123233	17:g.7123232_7123233insGAGGACGTGGGCGTG	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_001033859.2(ACADVL):c.-63_-49dup	37	ACADVL	Benign	6145976	RCV000152731\|RCV000335414\|RCV001610461;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7123240	7123241	17:g.7123240_7123241insGGGCGTGCAGGACGC	ClinGen:CA179707	CN169374 not specified;
NM_000018.3(ACADVL):c.-52_-51insTGCGGGCGTGCAGGA	37	ACADVL	Uncertain significance	1555527401	RCV000670373;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123240	7123241	17:g.7123240_7123241insGGGCGTGCAGGATGC	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.3(ACADVL):c.-50_-49insTGGGCGTGCAGGACGCGGGCGTGCAGGACG	37	ACADVL	Uncertain significance	1555527393	RCV000674467;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123240	7123241	17:g.7123240_7123241insGGGCGTGCAGGACGTGGGCGTGCAGGACGC	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.3(ACADVL):c.-49_-48insGGGCACGCGGGCGTGCAGGACGC	37	ACADVL	Uncertain significance	6145976	RCV000671629;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123240	7123241	17:g.7123240_7123241insGGGCGTGCAGGACGCGGGCACGC	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.3(ACADVL):c.-49_-48insGGGCGTGCAGGACGCCGGCGTGCAGGACGC	37	ACADVL	Uncertain significance	753389263	RCV000667551;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123241	7123242	17:g.7123241_7123242insGGCGTGCAGGACGCGGGCGTGCAGGACGCC	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.3(ACADVL):c.-49_-48insGGGCGTGCAGGACGT	37	ACADVL	Conflicting interpretations of pathogenicity	1555527399	RCV000668563\|RCV001712775;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7123255	7123256	17:g.7123255_7123256insGGGCGTGCAGGACGT	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.-36A>G	37	ACADVL	Conflicting interpretations of pathogenicity	372592554	RCV000434907\|RCV000398787;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123268	7123268	NC_000017.10:g.7123268A>G	ClinGen:CA8337501	CN169374 not specified;
NC_000017.10:g.(?_7123304)_(8193254_?)del	37	ACADVL	Pathogenic	-1	RCV003119081;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123304	8193254		-
NM_000018.4(ACADVL):c.3G>A (p.Met1Ile)	37	ACADVL	Likely pathogenic	768236474	RCV000671153;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123306	7123306	17:g.7123306G>A	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.4C>T (p.Gln2Ter)	37	ACADVL	Pathogenic	-1	RCV002838630;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123307	7123307	NC_000017.10:g.7123307C>T	-
NM_000018.4(ACADVL):c.8C>T (p.Ala3Val)	37	ACADVL	Uncertain significance	-1	RCV002613107;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123311	7123311	NC_000017.10:g.7123311C>T	-
NM_000018.4(ACADVL):c.9G>A (p.Ala3=)	37	ACADVL	Likely benign	-1	RCV003071754;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123312	7123312		-
NM_000018.4(ACADVL):c.9G>C (p.Ala3=)	37	ACADVL	Likely benign	-1	RCV002900492;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123312	7123312		-
NM_000018.4(ACADVL):c.11C>A (p.Ala4Asp)	37	ACADVL	Uncertain significance	1019684161	RCV001899209;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123314	7123314	7123314	-
NM_000018.4(ACADVL):c.13C>G (p.Arg5Gly)	37	ACADVL	Uncertain significance	747672165	RCV001980321;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123316	7123316	7123316	-
NM_000018.4(ACADVL):c.16_32del (p.Met6fs)	37	ACADVL	Likely pathogenic	1555527450	RCV000667776;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123317	7123333	17:g.7123317_7123333del	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.17T>C (p.Met6Thr)	37	ACADVL	Uncertain significance	-1	RCV002786005;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123320	7123320	NC_000017.10:g.7123320T>C	-
NM_000018.4(ACADVL):c.18G>A (p.Met6Ile)	37	ACADVL	Uncertain significance	-1	RCV002750793;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123321	7123321	NC_000017.10:g.7123321G>A	-
NM_000018.4(ACADVL):c.20C>A (p.Ala7Asp)	37	ACADVL	Uncertain significance	2142959240	RCV002005641;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123323	7123323	7123323	-
NM_000018.4(ACADVL):c.24G>C (p.Ala8=)	37	ACADVL	Likely benign	903824712	RCV001470663;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123327	7123327		-
NM_000018.4(ACADVL):c.26G>C (p.Ser9Thr)	37	ACADVL	Uncertain significance	-1	RCV003092591;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123329	7123329	NC_000017.10:g.7123329G>C	-
NM_000018.4(ACADVL):c.28T>C (p.Leu10=)	37	ACADVL	Likely benign	1265116066	RCV001428387;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123331	7123331		-
NM_000018.4(ACADVL):c.33del (p.Arg12fs)	37	ACADVL	Likely pathogenic	1555527464	RCV000673805;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123333	7123333	17:g.7123333_7123333del	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.30G>A (p.Leu10=)	37	ACADVL	Likely benign	2142959363	RCV001401665;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123333	7123333		-
NM_000018.4(ACADVL):c.33G>A (p.Gly11=)	37	ACADVL	Likely benign	975427927	RCV001414341;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123336	7123336		-
NM_000018.4(ACADVL):c.34C>T (p.Arg12Trp)	37	ACADVL	Uncertain significance	769290349	RCV001923287;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123337	7123337	7123337	-
NM_000018.4(ACADVL):c.37C>T (p.Gln13Ter)	37	ACADVL	Pathogenic	63750670	RCV001003624\|RCV002472377;	N	Human Phenotype Ontology:HP:0003201,MedGen:C0035410; Human Phenotype Ontology:HP:0011021,MedGen:C4023591\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123340	7123340	17:g.7123340C>T	-
NM_000018.4(ACADVL):c.39G>A (p.Gln13=)	37	ACADVL	Likely benign	1481490993	RCV002199396;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123342	7123342		-
NM_000018.4(ACADVL):c.49C>T (p.Leu17Phe)	37	ACADVL	Benign	2230179	RCV000020078\|RCV000224359\|RCV000251701;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900\|MedGen:CN169374	17	7123352	7123352	17:g.7123352C>T	ClinGen:CA341522,UniProtKB:P49748#VAR_029286	CN517202 not provided;
NM_000018.4(ACADVL):c.51C>T (p.Leu17=)	37	ACADVL	Conflicting interpretations of pathogenicity	376733533	RCV001126459;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123354	7123354		-
NM_000018.4(ACADVL):c.54G>A (p.Gly18=)	37	ACADVL	Likely benign	759918601	RCV000533108;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123357	7123357		ClinGen:CA8337516	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.56G>T (p.Gly19Val)	37	ACADVL	Uncertain significance	-1	RCV002919018;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123359	7123359	NC_000017.10:g.7123359G>T	-
NM_000018.4(ACADVL):c.57C>G (p.Gly19=)	37	ACADVL	Uncertain significance	-1	RCV003048803;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123360	7123360		-
NM_000018.4(ACADVL):c.58G>T (p.Gly20Ter)	37	ACADVL	Pathogenic	-1	RCV002717372;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123361	7123361	NC_000017.10:g.7123361G>T	-
NM_000018.4(ACADVL):c.59G>A (p.Gly20Glu)	37	ACADVL	Uncertain significance	-1	RCV003067325;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123362	7123362	NC_000017.10:g.7123362G>A	-
NM_000018.4(ACADVL):c.62+1G>A	37	ACADVL	Likely pathogenic	2071111529	RCV001236568;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123366	7123366	17:g.7123366G>A	-
NM_000018.4(ACADVL):c.62+1G>T	37	ACADVL	Likely pathogenic	-1	RCV002996927;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123366	7123366	NC_000017.10:g.7123366G>T	-
NM_000018.4(ACADVL):c.62+4TG[3]	37	ACADVL	Likely benign	777656865	RCV001500673;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123369	7123370	7123368	-
NM_000018.4(ACADVL):c.62+4TG[2]	37	ACADVL	Likely benign	-1	RCV002866341;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123369	7123372	NC_000017.10:g.7123369TG[2]	-
NM_000018.4(ACADVL):c.62+5G>A	37	ACADVL	Uncertain significance	1299140180	RCV001279285;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123370	7123370	17:g.7123370G>A	-
NM_000018.4(ACADVL):c.62+6T>C	37	ACADVL	Likely pathogenic	1555527495	RCV000498130\|RCV000664668;	N	MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123371	7123371	17:g.7123371T>C	ClinGen:CA645372604	CN517202 not provided;
NM_000018.4(ACADVL):c.62+9G>A	37	ACADVL	Conflicting interpretations of pathogenicity	369512281	RCV000671685;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123374	7123374	17:g.7123374G>A	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.62+10del	37	ACADVL	Likely benign	1251002707	RCV000671242;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123375	7123375	17:g.7123375_7123375del	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.62+11G>A	37	ACADVL	Likely benign	754789048	RCV002218483;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123376	7123376	7123376	-
NM_000018.4(ACADVL):c.62+12_62+21del	37	ACADVL	Likely benign	2142959968	RCV002172528;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123377	7123386	7123376	-
NM_000018.4(ACADVL):c.62+16G>A	37	ACADVL	Likely benign	-1	RCV002983079;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123381	7123381	NC_000017.10:g.7123381G>A	-
NM_000018.4(ACADVL):c.62+18G>A	37	ACADVL	Uncertain significance	780776419	RCV000671211;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123383	7123383	17:g.7123383G>A	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.62+20G>A	37	ACADVL	Conflicting interpretations of pathogenicity	369163211	RCV001200845;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123385	7123385	17:g.7123385G>A	-
NM_000018.4(ACADVL):c.63-35G>A	37	ACADVL	Benign	774905326	RCV001001403;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123406	7123406	17:g.7123406G>A	-
NM_000018.4(ACADVL):c.63-31C>T	37	ACADVL	Likely benign	372982295	RCV000508529\|RCV000671357;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123410	7123410	17:g.7123410C>T	ClinGen:CA8337537	CN169374 not specified;
NM_000018.4(ACADVL):c.63-18A>G	37	ACADVL	Conflicting interpretations of pathogenicity	1481782237	RCV000670892;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123423	7123423	17:g.7123423A>G	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.63-17A>T	37	ACADVL	Likely benign	1597516059	RCV002091033;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123424	7123424	7123424	-
NM_000018.4(ACADVL):c.63-16C>T	37	ACADVL	Likely benign	-1	RCV002998762;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123425	7123425	NC_000017.10:g.7123425C>T	-
NM_000018.4(ACADVL):c.63-10C>T	37	ACADVL	Likely benign	2142960638	RCV001498870;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123431	7123431	7123431	-
NM_000018.4(ACADVL):c.63-8C>T	37	ACADVL	Likely benign	2142960652	RCV001452147;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123433	7123433	7123433	-
NM_000018.4(ACADVL):c.63-4A>G	37	ACADVL	Likely benign	2142960681	RCV002152871;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123437	7123437	7123437	-
NM_000018.4(ACADVL):c.63-2A>C	37	ACADVL	Likely pathogenic	1555527513	RCV000531909;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123439	7123439	17:g.7123439A>C	ClinGen:CA397722016	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.64T>C (p.Ser22Pro)	37	ACADVL	Uncertain significance	-1	RCV003091041;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123442	7123442	NC_000017.10:g.7123442T>C	-
NM_000018.4(ACADVL):c.65C>A (p.Ser22Ter)	37	ACADVL	Pathogenic	727503788	RCV000152732\|RCV000985184;	N	MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123443	7123443	NC_000017.10:g.7123443C>A	ClinGen:CA233425	CN517202 not provided;
NM_000018.4(ACADVL):c.65C>G (p.Ser22Trp)	37	ACADVL	Uncertain significance	727503788	RCV002037005;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123443	7123443	7123443	-
NM_000018.4(ACADVL):c.65C>T (p.Ser22Leu)	37	ACADVL	Uncertain significance	-1	RCV003110861;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123443	7123443	NC_000017.10:g.7123443C>T	-
NM_000018.4(ACADVL):c.68G>A (p.Arg23Gln)	37	ACADVL	Benign	34153370	RCV000020079\|RCV000755204;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7123446	7123446	17:g.7123446G>A	ClinGen:CA341524	CN169374 not specified;
NM_000018.4(ACADVL):c.68G>T (p.Arg23Leu)	37	ACADVL	Uncertain significance	34153370	RCV002048630;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123446	7123446	7123446	-
NM_000018.4(ACADVL):c.75G>T (p.Thr25=)	37	ACADVL	Likely benign	2142960838	RCV002127607;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123453	7123453	7123453	-
NM_000018.4(ACADVL):c.79_100del (p.Leu27fs)	37	ACADVL	Likely pathogenic	2071119862	RCV001200784;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123455	7123476	17:g.7123455_7123476del	-
NM_000018.4(ACADVL):c.78G>C (p.Ala26=)	37	ACADVL	Likely benign	1285117129	RCV002160250;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123456	7123456	7123456	-
NM_000018.4(ACADVL):c.79C>T (p.Leu27Phe)	37	ACADVL	Uncertain significance	1597516267	RCV000811848\|RCV001772097;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN517202	17	7123457	7123457	17:g.7123457C>T	-
NM_000018.4(ACADVL):c.81C>G (p.Leu27=)	37	ACADVL	Likely benign	-1	RCV002871512;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123459	7123459		-
NM_000018.4(ACADVL):c.86G>A (p.Gly29Glu)	37	ACADVL	Uncertain significance	1247979958	RCV000652040;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123464	7123464	17:g.7123464G>A	ClinGen:CA397722062	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.90del (p.Gln30fs)	37	ACADVL	Likely pathogenic	-1	RCV003460253;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123468	7123468		-
NM_000018.4(ACADVL):c.91C>T (p.Pro31Ser)	37	ACADVL	Uncertain significance	1487946294	RCV002030868;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123469	7123469	7123469	-
NM_000018.4(ACADVL):c.100_104dup (p.Arg37fs)	37	ACADVL	Pathogenic	2142960989	RCV001967665;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123469	7123470	7123469	-
NM_000018.4(ACADVL):c.95G>A (p.Arg32Gln)	37	ACADVL	Uncertain significance	754806489	RCV000690917;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123473	7123473	17:g.7123473G>A	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.103_112dup (p.Arg38fs)	37	ACADVL	Pathogenic	-1	RCV002286685;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123473	7123474	7123473	-
NM_000018.4(ACADVL):c.103_112del (p.Pro35fs)	37	ACADVL	Likely pathogenic	1329022268	RCV000652031;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123474	7123483	17:g.7123474_7123483del	ClinGen:CA658798683	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.96G>A (p.Arg32=)	37	ACADVL	Likely benign	1243371051	RCV001406135;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123474	7123474	7123474	-
NM_000018.4(ACADVL):c.105_109dup (p.Arg37fs)	37	ACADVL	Conflicting interpretations of pathogenicity	1555527532	RCV000665413;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123478	7123479	17:g.7123478_7123479insGCCCT	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.100G>A (p.Gly34Ser)	37	ACADVL	Uncertain significance	781061205	RCV000795353;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123478	7123478	17:g.7123478G>A	-
NM_000018.4(ACADVL):c.105_109del (p.Arg37fs)	37	ACADVL	Likely pathogenic	-1	RCV003460259;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123479	7123483		-
NM_000018.4(ACADVL):c.104del (p.Pro35fs)	37	ACADVL	Pathogenic	1443151475	RCV000652036;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123480	7123480	17:g.7123480_7123480del	ClinGen:CA624861220	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.102C>T (p.Gly34=)	37	ACADVL	Likely benign	2142961120	RCV002205474;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123480	7123480	7123480	-
NM_000018.4(ACADVL):c.107C>T (p.Ala36Val)	37	ACADVL	Uncertain significance	1165915680	RCV001200676;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123485	7123485	17:g.7123485C>T	-
NM_000018.4(ACADVL):c.108C>T (p.Ala36=)	37	ACADVL	Likely benign	-1	RCV003088632;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123486	7123486		-
NM_000018.4(ACADVL):c.109C>T (p.Arg37Trp)	37	ACADVL	Uncertain significance	536992268	RCV000367977\|RCV002450886;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MeSH:D030342,MedGen:C0950123	17	7123487	7123487	NC_000017.10:g.7123487C>T	ClinGen:CA8337546	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.110G>A (p.Arg37Gln)	37	ACADVL	Uncertain significance	-1	RCV002636383;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123488	7123488	NC_000017.10:g.7123488G>A	-
NM_000018.4(ACADVL):c.111G>A (p.Arg37=)	37	ACADVL	Likely benign	755803798	RCV000897591;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123489	7123489	17:g.7123489G>A	-
NM_000018.4(ACADVL):c.114G>C (p.Arg38=)	37	ACADVL	Conflicting interpretations of pathogenicity	777380964	RCV001128518;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123492	7123492	17:g.7123492G>C	-
NM_000018.4(ACADVL):c.117C>T (p.Pro39=)	37	ACADVL	Likely benign	370883584	RCV000873688\|RCV003169186;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MeSH:D030342,MedGen:C0950123	17	7123495	7123495	17:g.7123495C>T	-
NM_000018.4(ACADVL):c.119A>G (p.Tyr40Cys)	37	ACADVL	Uncertain significance	-1	RCV002996878;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123497	7123497	NC_000017.10:g.7123497A>G	-
NM_000018.4(ACADVL):c.121G>A (p.Ala41Thr)	37	ACADVL	Uncertain significance	367705640	RCV000690439;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123499	7123499	17:g.7123499G>A	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.123C>T (p.Ala41=)	37	ACADVL	Likely benign	778217628	RCV000977625;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123501	7123501	17:g.7123501C>T	-
NM_000018.4(ACADVL):c.128del (p.Gly43fs)	37	ACADVL	Likely pathogenic	2071123075	RCV001063280;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123502	7123502	17:g.7123502_7123502del	-
NM_000018.4(ACADVL):c.127G>A (p.Gly43Ser)	37	ACADVL	Uncertain significance	-1	RCV002577626;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123505	7123505	NC_000017.10:g.7123505G>A	-
NM_000018.4(ACADVL):c.128G>A (p.Gly43Asp)	37	ACADVL	Benign	2230178	RCV000020071\|RCV000253810\|RCV001689571;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN169374\|MedGen:C3661900	17	7123506	7123506	17:g.7123506G>A	ClinGen:CA341517,UniProtKB:P49748#VAR_000330	CN169374 not specified;
NM_000018.4(ACADVL):c.129T>A (p.Gly43=)	37	ACADVL	Conflicting interpretations of pathogenicity	727503789	RCV000152733\|RCV001497556;	N	MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123507	7123507	17:g.7123507T>A	ClinGen:CA233427	CN169374 not specified;
NM_000018.4(ACADVL):c.130G>A (p.Ala44Thr)	37	ACADVL	Uncertain significance	573810960	RCV001200677\|RCV002379756;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MeSH:D030342,MedGen:C0950123	17	7123508	7123508	17:g.7123508G>A	-
NM_000018.4(ACADVL):c.132C>T (p.Ala44=)	37	ACADVL	Likely benign	1237892223	RCV000982576;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123510	7123510	17:g.7123510C>T	-
NM_000018.4(ACADVL):c.132C>G (p.Ala44=)	37	ACADVL	Likely benign	1237892223	RCV001490655;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123510	7123510	7123510	-
NM_000018.4(ACADVL):c.134C>T (p.Ala45Val)	37	ACADVL	Uncertain significance	2071124062	RCV001067236;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123512	7123512	17:g.7123512C>T	-
NM_000018.4(ACADVL):c.138G>A (p.Gln46=)	37	ACADVL	Uncertain significance	775956800	RCV001906051;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123516	7123516	7123516	-
NM_000018.4(ACADVL):c.138+2dup	37	ACADVL	Conflicting interpretations of pathogenicity	1555527548	RCV000523516\|RCV000666464;	N	MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123517	7123518	17:g.7123517_7123518insT	ClinGen:CA658658531	CN517202 not provided;
NM_000018.4(ACADVL):c.138+1G>A	37	ACADVL	Likely pathogenic	747351687	RCV000665642;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123517	7123517	17:g.7123517G>A	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.138+2T>C	37	ACADVL	Likely pathogenic	1057516817	RCV000410269;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123518	7123518	NC_000017.10:g.7123518T>C	ClinGen:CA16041857	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.138+5G>A	37	ACADVL	Uncertain significance	2071124642	RCV001200846;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123521	7123521	17:g.7123521G>A	-
NM_000018.4(ACADVL):c.138+7C>A	37	ACADVL	Likely benign	1462406529	RCV001403268;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123523	7123523	7123523	-
NM_000018.4(ACADVL):c.138+7C>T	37	ACADVL	Likely benign	1462406529	RCV002088612;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123523	7123523	7123523	-
NM_000018.4(ACADVL):c.138+10C>G	37	ACADVL	Likely benign	1057523013	RCV000432854\|RCV000949124;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123526	7123526	17:g.7123526C>G	ClinGen:CA16607868	CN169374 not specified;
NM_000018.4(ACADVL):c.138+10C>T	37	ACADVL	Likely benign	1057523013	RCV002140785;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123526	7123526	7123526	-
NM_000018.4(ACADVL):c.138+10C>A	37	ACADVL	Likely benign	1057523013	RCV002169415;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123526	7123526	7123526	-
NM_000018.4(ACADVL):c.138+11G>T	37	ACADVL	Likely benign	-1	RCV003118550;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123527	7123527	NC_000017.10:g.7123527G>T	-
NM_000018.4(ACADVL):c.138+17T>C	37	ACADVL	Likely benign	2142961713	RCV002201205;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123533	7123533	7123533	-
NM_000018.4(ACADVL):c.139-20C>T	37	ACADVL	Conflicting interpretations of pathogenicity	374535729	RCV001200847;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123763	7123763	17:g.7123763C>T	-
NM_000018.4(ACADVL):c.139-15C>T	37	ACADVL	Likely benign	-1	RCV002600023;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123768	7123768	NC_000017.10:g.7123768C>T	-
NM_000018.4(ACADVL):c.139-14G>C	37	ACADVL	Likely benign	1015495051	RCV002081753;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123769	7123769	7123769	-
NM_000018.4(ACADVL):c.139-10C>T	37	ACADVL	Likely benign	747439748	RCV001481807;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123773	7123773	17:g.7123773C>T	-
NM_000018.4(ACADVL):c.139-7T>C	37	ACADVL	Likely benign	2142963859	RCV001500865;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123776	7123776	7123776	-
NM_000018.4(ACADVL):c.139-5C>G	37	ACADVL	Likely benign	769138546	RCV001465768;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123778	7123778	7123778	-
NM_000018.4(ACADVL):c.139-3C>T	37	ACADVL	Uncertain significance	1555527630	RCV000671543\|RCV002531288;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MeSH:D030342,MedGen:C0950123	17	7123780	7123780	17:g.7123780C>T	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.139-2A>T	37	ACADVL	Likely pathogenic	-1	RCV002615796;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123781	7123781	NC_000017.10:g.7123781A>T	-
NM_000018.4(ACADVL):c.139-1G>T	37	ACADVL	Likely pathogenic	1597518019	RCV000801039;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123782	7123782	17:g.7123782G>T	-
NM_000018.4(ACADVL):c.139-1_139delinsTT	37	ACADVL	Likely pathogenic	2142963941	RCV002023074;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123782	7123783	7123782	-
NM_000018.4(ACADVL):c.139-1G>C	37	ACADVL	Likely pathogenic	-1	RCV003029548;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123782	7123782	NC_000017.10:g.7123782G>C	-
NM_000018.4(ACADVL):c.139-1G>A	37	ACADVL	Likely pathogenic	-1	RCV003460244;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123782	7123782		-
NM_000018.4(ACADVL):c.145_146dup (p.Asp50fs)	37	ACADVL	Likely pathogenic	1567560601	RCV001385928;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123786	7123787	7123786	-
NM_000018.4(ACADVL):c.142G>A (p.Ala48Thr)	37	ACADVL	Uncertain significance	-1	RCV002635165;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123786	7123786	NC_000017.10:g.7123786G>A	-
NM_000018.4(ACADVL):c.143C>T (p.Ala48Val)	37	ACADVL	Uncertain significance	2142963990	RCV001925598;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123787	7123787	7123787	-
NM_000018.4(ACADVL):c.155C>G (p.Ser52Ter)	37	ACADVL	Likely pathogenic	2071146837	RCV001200670;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123799	7123799	17:g.7123799C>G	-
NM_000018.4(ACADVL):c.156A>G (p.Ser52=)	37	ACADVL	Likely benign	-1	RCV002953324;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123800	7123800		-
NM_000018.4(ACADVL):c.161C>T (p.Ser54Phe)	37	ACADVL	Uncertain significance	-1	RCV003033243;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123805	7123805	NC_000017.10:g.7123805C>T	-
NM_000018.4(ACADVL):c.162C>T (p.Ser54=)	37	ACADVL	Likely benign	2142964086	RCV002074613;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123806	7123806	7123806	-
NM_000018.4(ACADVL):c.165C>T (p.His55=)	37	ACADVL	Likely benign	1303022654	RCV002185207;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123809	7123809	7123809	-
NM_000018.4(ACADVL):c.167C>A (p.Pro56His)	37	ACADVL	Uncertain significance	2142964131	RCV001986947;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123811	7123811	7123811	-
NM_000018.4(ACADVL):c.168C>T (p.Pro56=)	37	ACADVL	Likely benign	544122648	RCV001399534;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123812	7123812	7123812	-
NM_000018.4(ACADVL):c.168C>G (p.Pro56=)	37	ACADVL	Likely benign	544122648	RCV001486092;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123812	7123812	7123812	-
NM_000018.4(ACADVL):c.175_182del (p.Ala59fs)	37	ACADVL	Likely pathogenic	-1	RCV003460234;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123812	7123819		-
NM_000018.4(ACADVL):c.171T>A (p.Ser57=)	37	ACADVL	Likely benign	-1	RCV002584829;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123815	7123815		-
NM_000018.4(ACADVL):c.174C>T (p.Asp58=)	37	ACADVL	Likely benign	-1	RCV002997062;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123818	7123818		-
NM_000018.4(ACADVL):c.179T>G (p.Leu60Arg)	37	ACADVL	Uncertain significance	1405660468	RCV001200678;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123823	7123823	17:g.7123823T>G	-
NM_000018.4(ACADVL):c.180G>C (p.Leu60=)	37	ACADVL	Conflicting interpretations of pathogenicity	886053372	RCV000315448;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123824	7123824	NC_000017.10:g.7123824G>C	ClinGen:CA10650873	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.185G>C (p.Arg62Thr)	37	ACADVL	Likely benign	1213143512	RCV001200679;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123829	7123829	17:g.7123829G>C	-
NM_000018.4(ACADVL):c.192dup (p.Pro65fs)	37	ACADVL	Likely pathogenic	771055189	RCV000690630;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123830	7123831	17:g.7123830_7123831insA	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.192del (p.Lys64fs)	37	ACADVL	Likely pathogenic	771055189	RCV000669061;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123831	7123831	17:g.7123831_7123831del	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.188A>G (p.Lys63Arg)	37	ACADVL	Uncertain significance	-1	RCV002967975;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123832	7123832	NC_000017.10:g.7123832A>G	-
NM_000018.4(ACADVL):c.189A>G (p.Lys63=)	37	ACADVL	Conflicting interpretations of pathogenicity	727503790	RCV000152734\|RCV001405077;	N	MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123833	7123833	17:g.7123833A>G	ClinGen:CA233429	CN169374 not specified;
NM_000018.4(ACADVL):c.190A>T (p.Lys64Ter)	37	ACADVL	Likely pathogenic	2142964399	RCV001390336;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123834	7123834	7123834	-
NM_000018.4(ACADVL):c.192A>G (p.Lys64=)	37	ACADVL	Likely benign	2071148553	RCV001430326;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123836	7123836	7123836	-
NM_000018.4(ACADVL):c.193C>T (p.Pro65Ser)	37	ACADVL	Uncertain significance	-1	RCV002944057;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123837	7123837	NC_000017.10:g.7123837C>T	-
NM_000018.4(ACADVL):c.194C>T (p.Pro65Leu)	37	ACADVL	Benign	28934585	RCV000020076\|RCV000077913\|RCV000420053;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN169374\|MedGen:C3661900	17	7123838	7123838	17:g.7123838C>T	ClinVar:441528,ClinGen:CA285292,UniProtKB:P49748#VAR_048176,OMIM:609575.0011	CN517202 not provided;
NM_000018.4(ACADVL):c.200_204+19del	37	ACADVL	Likely pathogenic	-1	RCV003036126;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123839	7123862	NC_000017.10:g.7123844_7123867del	-
NM_000018.4(ACADVL):c.196G>A (p.Ala66Thr)	37	ACADVL	Uncertain significance	142745084	RCV001954806;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123840	7123840	7123840	-
NM_000018.4(ACADVL):c.197C>G (p.Ala66Gly)	37	ACADVL	Uncertain significance	2071149098	RCV001912581\|RCV002554265;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MeSH:D030342,MedGen:C0950123	17	7123841	7123841	7123841	-
NM_000018.4(ACADVL):c.198C>T (p.Ala66=)	37	ACADVL	Likely benign	2142964530	RCV001496093;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123842	7123842	7123842	-
NM_000018.4(ACADVL):c.199A>T (p.Lys67Ter)	37	ACADVL	Likely pathogenic	765432568	RCV000989692;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123843	7123843	NC_000017.10:g.7123843A>T	-
NM_000018.4(ACADVL):c.201G>A (p.Lys67=)	37	ACADVL	Uncertain significance	753577095	RCV001128519;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123845	7123845	17:g.7123845G>A	-
NM_000018.4(ACADVL):c.201_204+13del	37	ACADVL	Likely pathogenic	-1	RCV002819852;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123845	7123861	NC_000017.10:g.7123845_7123861del	-
NM_000018.4(ACADVL):c.204G>A (p.Ala68=)	37	ACADVL	Uncertain significance	756969179	RCV001989056;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123848	7123848	7123848	-
NM_000018.4(ACADVL):c.204+1G>T	37	ACADVL	Likely pathogenic	-1	RCV002828213;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123849	7123849	NC_000017.10:g.7123849G>T	-
NM_000018.4(ACADVL):c.204+4G>C	37	ACADVL	Uncertain significance	764767909	RCV000810004;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123852	7123852	17:g.7123852G>C	-
NM_000018.4(ACADVL):c.204+5G>A	37	ACADVL	Uncertain significance	958328801	RCV000668790;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123853	7123853	17:g.7123853G>A	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.204+8G>T	37	ACADVL	Likely benign	-1	RCV002904500;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123856	7123856	NC_000017.10:g.7123856G>T	-
NM_000018.4(ACADVL):c.204+12C>T	37	ACADVL	Likely benign	-1	RCV002938737;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123860	7123860	NC_000017.10:g.7123860C>T	-
NM_000018.4(ACADVL):c.204+12C>A	37	ACADVL	Likely benign	-1	RCV002910137;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123860	7123860	NC_000017.10:g.7123860C>A	-
NM_000018.4(ACADVL):c.204+15G>A	37	ACADVL	Likely benign	1404625751	RCV000672068;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123863	7123863	17:g.7123863G>A	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.204+16G>A	37	ACADVL	Likely benign	780773899	RCV002171777;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123864	7123864	7123864	-
NM_000018.4(ACADVL):c.204+18C>T	37	ACADVL	Likely benign	2071151141	RCV002071792;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123866	7123866	7123866	-
NM_000018.4(ACADVL):c.204+18C>A	37	ACADVL	Likely benign	-1	RCV003036127;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123866	7123866	NC_000017.10:g.7123866C>A	-
NM_000018.4(ACADVL):c.204+19A>T	37	ACADVL	Likely benign	-1	RCV002715058;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123867	7123867	NC_000017.10:g.7123867A>T	-
NM_000018.4(ACADVL):c.204+19A>G	37	ACADVL	Likely benign	-1	RCV002815800;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123867	7123867	NC_000017.10:g.7123867A>G	-
NM_000018.4(ACADVL):c.204+31dup	37	ACADVL	Likely benign	1555527700	RCV000666685;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123878	7123879	17:g.7123878_7123879insG	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.205-34A>G	37	ACADVL	Uncertain significance	770101303	RCV001200848;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123889	7123889	17:g.7123889A>G	-
NM_000018.4(ACADVL):c.205-15C>T	37	ACADVL	Likely benign	1567560898	RCV002141614;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123908	7123908	7123908	-
NM_000018.4(ACADVL):c.205-12C>T	37	ACADVL	Likely benign	2142965144	RCV002127827;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123911	7123911	7123911	-
NM_000018.4(ACADVL):c.205-10C>T	37	ACADVL	Likely benign	2142965181	RCV002105117;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123913	7123913	7123913	-
NM_000018.4(ACADVL):c.205-8C>G	37	ACADVL	Conflicting interpretations of pathogenicity	774353448	RCV000270843;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123915	7123915	NC_000017.10:g.7123915C>G	ClinGen:CA8337598	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.205-8_205-7delinsGC	37	ACADVL	Conflicting interpretations of pathogenicity	2142965218	RCV001412589\|RCV002243194;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7123915	7123916	7123915	-
NM_000018.4(ACADVL):c.205-7T>C	37	ACADVL	Conflicting interpretations of pathogenicity	760625298	RCV000325779;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123916	7123916	NC_000017.10:g.7123916T>C	ClinGen:CA8337599	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.205-3dup	37	ACADVL	Likely benign	2142965291	RCV002135965;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123917	7123918	7123917	-
NM_000018.4(ACADVL):c.205-6G>C	37	ACADVL	Likely benign	-1	RCV002765826;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123917	7123917	NC_000017.10:g.7123917G>C	-
NM_000018.4(ACADVL):c.205-6G>T	37	ACADVL	Likely benign	-1	RCV003028755;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123917	7123917	NC_000017.10:g.7123917G>T	-
NM_000018.4(ACADVL):c.205-5C>G	37	ACADVL	Uncertain significance	768537914	RCV000668373;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123918	7123918	17:g.7123918C>G	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.205-2A>G	37	ACADVL	Likely pathogenic	1597518954	RCV000800818;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123921	7123921	17:g.7123921A>G	-
NM_000018.4(ACADVL):c.205-2A>T	37	ACADVL	Likely pathogenic	1597518954	RCV001377749;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123921	7123921	7123921	-
NM_000018.4(ACADVL):c.205-1G>C	37	ACADVL	Likely pathogenic	2142965332	RCV002045963;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123922	7123922	7123922	-
NM_000018.4(ACADVL):c.210dup (p.Lys71Ter)	37	ACADVL	Likely pathogenic	796051912	RCV000185734\|RCV002259319;	N	MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123927	7123928	17:g.7123927_7123928insT	ClinGen:CA312282	CN517202 not provided;
NM_000018.4(ACADVL):c.215C>T (p.Ser72Phe)	37	ACADVL	Conflicting interpretations of pathogenicity	1161495077	RCV001200680\|RCV002282479;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN169374	17	7123933	7123933	17:g.7123933C>T	-
NM_000018.4(ACADVL):c.216C>T (p.Ser72=)	37	ACADVL	Uncertain significance	761492981	RCV000877469;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123934	7123934	17:g.7123934C>T	-
NM_000018.4(ACADVL):c.218T>C (p.Phe73Ser)	37	ACADVL	Uncertain significance	2071156261	RCV001200681;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123936	7123936	17:g.7123936T>C	-
NM_000018.4(ACADVL):c.221C>T (p.Ala74Val)	37	ACADVL	Uncertain significance	1470149388	RCV001924313;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123939	7123939	7123939	-
NM_000018.4(ACADVL):c.228_231dup (p.Phe78fs)	37	ACADVL	Likely pathogenic	-1	RCV003460246;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123944	7123945		-
NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu)	37	ACADVL	Conflicting interpretations of pathogenicity	750043368	RCV000669555\|RCV001731870\|RCV002531230;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN169374\|MeSH:D030342,MedGen:C0950123	17	7123945	7123945	17:g.7123945G>A	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.230T>C (p.Met77Thr)	37	ACADVL	Uncertain significance	1555527718	RCV000666717;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123948	7123948	17:g.7123948T>C	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.233T>A (p.Phe78Tyr)	37	ACADVL	Uncertain significance	-1	RCV002580276;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123951	7123951	NC_000017.10:g.7123951T>A	-
NM_000018.4(ACADVL):c.234C>G (p.Phe78Leu)	37	ACADVL	Uncertain significance	2142965570	RCV001947101;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123952	7123952	7123952	-
NM_000018.4(ACADVL):c.234C>T (p.Phe78=)	37	ACADVL	Likely benign	2142965570	RCV002078736;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123952	7123952	7123952	-
NM_000018.4(ACADVL):c.236A>G (p.Lys79Arg)	37	ACADVL	Uncertain significance	2071157517	RCV001338835;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123954	7123954	7123954	-
NM_000018.4(ACADVL):c.239G>A (p.Gly80Asp)	37	ACADVL	Uncertain significance	1460278489	RCV001299779;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123957	7123957	7123957	-
NM_000018.4(ACADVL):c.243G>A (p.Gln81=)	37	ACADVL	Likely benign	1318553246	RCV002098151;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123961	7123961	7123961	-
NM_000018.4(ACADVL):c.244C>A (p.Leu82Ile)	37	ACADVL	Uncertain significance	-1	RCV003110644\|RCV003341531;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MeSH:D030342,MedGen:C0950123	17	7123962	7123962	NC_000017.10:g.7123962C>A	-
NM_000018.4(ACADVL):c.247A>G (p.Thr83Ala)	37	ACADVL	Uncertain significance	1339560413	RCV001971742;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123965	7123965	7123965	-
NM_000018.4(ACADVL):c.251_252del (p.Thr84fs)	37	ACADVL	Likely pathogenic	1452339268	RCV000667548;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123967	7123968	17:g.7123967_7123968del	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.250A>G (p.Thr84Ala)	37	ACADVL	Uncertain significance	-1	RCV002890968;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123968	7123968	NC_000017.10:g.7123968A>G	-
NM_000018.4(ACADVL):c.253dup (p.Asp85fs)	37	ACADVL	Pathogenic	1247360325	RCV001213341;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123970	7123971	17:g.7123970_7123971insG	-
NM_000018.4(ACADVL):c.255T>C (p.Asp85=)	37	ACADVL	Likely benign	201085520	RCV001200111\|RCV000946228;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123973	7123973	17:g.7123973T>C	-
NM_000018.4(ACADVL):c.256C>T (p.Gln86Ter)	37	ACADVL	Likely pathogenic	1555527732	RCV000667158;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123974	7123974	17:g.7123974C>T	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.257A>G (p.Gln86Arg)	37	ACADVL	Uncertain significance	-1	RCV002805424;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123975	7123975	NC_000017.10:g.7123975A>G	-
NM_000018.4(ACADVL):c.258G>A (p.Gln86=)	37	ACADVL	Likely benign	-1	RCV002881684;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123976	7123976		-
NM_000018.4(ACADVL):c.259G>A (p.Val87Met)	37	ACADVL	Uncertain significance	2142965839	RCV001580624;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123977	7123977	7123977	-
NM_000018.4(ACADVL):c.259_272delinsT (p.Val87fs)	37	ACADVL	Likely pathogenic	-1	RCV003460275;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123977	7123990		-
NM_000018.4(ACADVL):c.260T>C (p.Val87Ala)	37	ACADVL	Uncertain significance	796051907	RCV001200682;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123978	7123978	17:g.7123978T>C	-
NM_000018.4(ACADVL):c.260T>G (p.Val87Gly)	37	ACADVL	Uncertain significance	796051907	RCV001958217;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123978	7123978	7123978	-
NM_000018.4(ACADVL):c.266del (p.Pro89fs)	37	ACADVL	Likely pathogenic	771808680	RCV000667604;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123982	7123982	17:g.7123982_7123982del	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.264C>T (p.Phe88=)	37	ACADVL	Likely benign	147357106	RCV000922715;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123982	7123982	17:g.7123982C>T	-
NM_000018.4(ACADVL):c.265C>T (p.Pro89Ser)	37	ACADVL	Likely pathogenic	-1	RCV002286691;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123983	7123983	7123983	-
NM_000018.4(ACADVL):c.267del (p.Tyr90fs)	37	ACADVL	Likely pathogenic	-1	RCV002307234;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123985	7123985	7123984	-
NM_000018.4(ACADVL):c.270C>T (p.Tyr90=)	37	ACADVL	Likely benign	749482177	RCV001409174;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123988	7123988	7123988	-
NM_000018.4(ACADVL):c.271C>T (p.Pro91Ser)	37	ACADVL	Uncertain significance	398123087	RCV000077914\|RCV001200852;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123989	7123989	17:g.7123989C>T	ClinGen:CA220204	CN169374 not specified;
NM_000018.4(ACADVL):c.272C>A (p.Pro91Gln)	37	ACADVL	Uncertain significance	2071160066	RCV001200683;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123990	7123990	17:g.7123990C>A	-
NM_000018.4(ACADVL):c.272C>T (p.Pro91Leu)	37	ACADVL	Uncertain significance	-1	RCV003064384;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123990	7123990	NC_000017.10:g.7123990C>T	-
NM_000018.4(ACADVL):c.273G>A (p.Pro91=)	37	ACADVL	Likely benign	778993830	RCV002065536;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123991	7123991	17:g.7123991G>A	-
NM_000018.4(ACADVL):c.273G>C (p.Pro91=)	37	ACADVL	Likely benign	778993830	RCV001452103;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123991	7123991	7123991	-
NM_000018.4(ACADVL):c.276C>T (p.Ser92=)	37	ACADVL	Uncertain significance	530278910	RCV001968268;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123994	7123994	7123994	-
NM_000018.4(ACADVL):c.277+1del	37	ACADVL	Likely pathogenic	1555527741	RCV000665640;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123995	7123995	17:g.7123995_7123995del	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.277G>T (p.Val93Leu)	37	ACADVL	Uncertain significance	768632138	RCV001802310;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123995	7123995	7123995	-
NM_000018.4(ACADVL):c.277G>A (p.Val93Met)	37	ACADVL	Conflicting interpretations of pathogenicity	-1	RCV003097652;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123995	7123995	NC_000017.10:g.7123995G>A	-
NM_000018.4(ACADVL):c.277G>C (p.Val93Leu)	37	ACADVL	Uncertain significance	-1	RCV002746546;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123995	7123995	NC_000017.10:g.7123995G>C	-
NM_000018.4(ACADVL):c.277+1G>T	37	ACADVL	Likely pathogenic	1057517012	RCV000412197;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123996	7123996	17:g.7123996G>T	ClinGen:CA16041858	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.277+1G>A	37	ACADVL	Pathogenic	-1	RCV002286686;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123996	7123996	7123996	-
NM_000018.4(ACADVL):c.277+2T>G	37	ACADVL	Pathogenic	1555527745	RCV000672219;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123997	7123997	17:g.7123997T>G	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.277+2T>C	37	ACADVL	Pathogenic	1555527745	RCV001933755\|RCV002252730;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7123997	7123997	7123997	-
NM_000018.4(ACADVL):c.277+2T>A	37	ACADVL	Likely pathogenic	-1	RCV003460272;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123997	7123997		-
NM_000018.4(ACADVL):c.277+5G>A	37	ACADVL	Uncertain significance	2071160721	RCV001893856;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124000	7124000	7124000	-
NM_000018.4(ACADVL):c.277+6G>T	37	ACADVL	Uncertain significance	776422793	RCV000652046;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124001	7124001	NC_000017.10:g.7124001G>T	ClinGen:CA8337618	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.277+7G>C	37	ACADVL	Likely benign	1405587459	RCV001415879;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124002	7124002	7124002	-
NM_000018.4(ACADVL):c.277+10G>A	37	ACADVL	Likely benign	1597519525	RCV002068662;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124005	7124005	17:g.7124005G>A	-
NM_000018.4(ACADVL):c.277+18C>A	37	ACADVL	Likely benign	2142966096	RCV002172307;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124013	7124013	7124013	-
NM_000018.4(ACADVL):c.277+24T>C	37	ACADVL	Likely benign	199945418	RCV000671544;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124019	7124019	17:g.7124019T>C	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.277+27del	37	ACADVL	Likely benign	775298132	RCV000671358;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124020	7124020	17:g.7124020_7124020del	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.278-39C>T	37	ACADVL	Likely benign	202244937	RCV000671343;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124046	7124046	17:g.7124046C>T	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.278-31_278-18del	37	ACADVL	Likely benign	2071164779	RCV002226149\|RCV003093891;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124046	7124059	7124045	-
NM_000018.4(ACADVL):c.278-20C>T	37	ACADVL	Likely benign	-1	RCV003078247;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124065	7124065	NC_000017.10:g.7124065C>T	-
NM_000018.4(ACADVL):c.278-12del	37	ACADVL	Benign	2142966623	RCV002127433;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124069	7124069	7124068	-
NM_000018.4(ACADVL):c.278-16C>A	37	ACADVL	Likely benign	1428008149	RCV002206926;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124069	7124069	7124069	-
NM_000018.4(ACADVL):c.278-16C>T	37	ACADVL	Likely benign	1428008149	RCV002210376;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124069	7124069	7124069	-
NM_000018.4(ACADVL):c.278-14C>T	37	ACADVL	Likely benign	-1	RCV002751449;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124071	7124071	NC_000017.10:g.7124071C>T	-
NM_000018.4(ACADVL):c.278-10C>T	37	ACADVL	Likely benign	2071166695	RCV002178494;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124075	7124075	7124075	-
NM_000018.4(ACADVL):c.278-8C>T	37	ACADVL	Conflicting interpretations of pathogenicity	1178133251	RCV000671740;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124077	7124077	17:g.7124077C>T	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.278-7T>C	37	ACADVL	Likely benign	758471890	RCV001440975;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124078	7124078	7124078	-
NM_000018.4(ACADVL):c.278-6C>T	37	ACADVL	Likely benign	1008843538	RCV002088868;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124079	7124079	7124079	-
NM_000018.4(ACADVL):c.278-5T>C	37	ACADVL	Likely benign	780118841	RCV001399158;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124080	7124080	7124080	-
NM_000018.4(ACADVL):c.278-4G>A	37	ACADVL	Likely benign	2142966745	RCV001453033;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124081	7124081	7124081	-
NM_000018.4(ACADVL):c.278-1G>A	37	ACADVL	Likely pathogenic	1298004609	RCV001200671;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124084	7124084	17:g.7124084G>A	-
NM_000018.4(ACADVL):c.278T>C (p.Val93Ala)	37	ACADVL	Uncertain significance	886053373	RCV000385029;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124085	7124085	NC_000017.10:g.7124085T>C	ClinGen:CA10650874	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.279G>A (p.Val93=)	37	ACADVL	Likely benign	748048602	RCV001429408;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124086	7124086	7124086	-
NM_000018.4(ACADVL):c.285C>T (p.Asn95=)	37	ACADVL	Likely benign	769723013	RCV002090058;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124092	7124092	7124092	-
NM_000018.4(ACADVL):c.285C>A (p.Asn95Lys)	37	ACADVL	Uncertain significance	-1	RCV002705663;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124092	7124092	NC_000017.10:g.7124092C>A	-
NM_000018.4(ACADVL):c.286G>A (p.Glu96Lys)	37	ACADVL	Uncertain significance	139427392	RCV000703241\|RCV001508429;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN517202	17	7124093	7124093	17:g.7124093G>A	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.294_297del (p.Gln98fs)	37	ACADVL	Pathogenic/Likely pathogenic	2071168842	RCV001200840;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124099	7124102	17:g.7124099_7124102del	-
NM_000018.4(ACADVL):c.294G>C (p.Gln98His)	37	ACADVL	Uncertain significance	794727695	RCV000178701\|RCV001852220;	N	MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124101	7124101	17:g.7124101G>C	ClinGen:CA245879	CN169374 not specified;
NM_000018.4(ACADVL):c.294G>T (p.Gln98His)	37	ACADVL	Uncertain significance	794727695	RCV001306639;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124101	7124101	7124101	-
NM_000018.4(ACADVL):c.294G>A (p.Gln98=)	37	ACADVL	Likely benign	794727695	RCV001469952;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124101	7124101	7124101	-
NM_000018.4(ACADVL):c.298_299del (p.Gln100fs)	37	ACADVL	Pathogenic	786204713	RCV000169528\|RCV000724267;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7124102	7124103	17:g.7124102_7124103del	ClinGen:CA274395	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.298C>G (p.Gln100Glu)	37	ACADVL	Uncertain significance	750675692	RCV000805818;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124105	7124105	17:g.7124105C>G	-
NM_000018.4(ACADVL):c.298C>T (p.Gln100Ter)	37	ACADVL	Pathogenic	-1	RCV003474417;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124105	7124105		-
NM_000018.4(ACADVL):c.299_305del (p.Gln100fs)	37	ACADVL	Likely pathogenic	1555527806	RCV000673162;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124106	7124112	17:g.7124106_7124112del	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.299A>G (p.Gln100Arg)	37	ACADVL	Uncertain significance	774141572	RCV001938479;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124106	7124106	7124106	-
NM_000018.4(ACADVL):c.300G>C (p.Gln100His)	37	ACADVL	Uncertain significance	1268173973	RCV001122812;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124107	7124107	17:g.7124107G>C	-
NM_000018.4(ACADVL):c.301T>C (p.Phe101Leu)	37	ACADVL	Uncertain significance	759197049	RCV001950466;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124108	7124108	7124108	-
NM_000018.4(ACADVL):c.303del (p.Glu104fs)	37	ACADVL	Pathogenic	2142967119	RCV001970026;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124108	7124108	7124107	-
NM_000018.4(ACADVL):c.307_323dup (p.Val109fs)	37	ACADVL	Likely pathogenic	1597520263	RCV000803389\|RCV003392608;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|	17	7124113	7124114	17:g.7124113_7124114insAAAGAGCTGGTGGAGCC	-
NM_000018.4(ACADVL):c.308_309del (p.Lys103fs)	37	ACADVL	Likely pathogenic	1057516979	RCV000410821\|RCV001580491;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN517202	17	7124114	7124115	17:g.7124114_7124115del	ClinGen:CA16041859	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.308A>G (p.Lys103Arg)	37	ACADVL	Uncertain significance	140566084	RCV000241751\|RCV001122813\|RCV001508430;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7124115	7124115	NC_000017.10:g.7124115A>G	ClinGen:CA8337646	CN169374 not specified;
NM_000018.4(ACADVL):c.309A>G (p.Lys103=)	37	ACADVL	Likely benign	2142967187	RCV001433746;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124116	7124116	7124116	-
NM_000018.4(ACADVL):c.316_325del (p.Val106fs)	37	ACADVL	Likely pathogenic	1057518506	RCV000412713\|RCV002286572;	N	MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124120	7124129	NC_000017.10:g.7124123_7124132del	ClinGen:CA16043042
NC_000017.10:g.(?_7124120)_(7128078_?)del	37	ACADVL	Pathogenic	-1	RCV003119080;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124120	7128078		-
NM_000018.4(ACADVL):c.315G>T (p.Leu105=)	37	ACADVL	Likely benign	754620326	RCV002120278;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124122	7124122	7124122	-
NM_000018.4(ACADVL):c.320del (p.Glu107fs)	37	ACADVL	Pathogenic	-1	RCV002740573;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124127	7124127	NC_000017.10:g.7124127del	-
NM_000018.4(ACADVL):c.322C>G (p.Pro108Ala)	37	ACADVL	Uncertain significance	886043235	RCV000272747\|RCV001855162;	N	MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124129	7124129	17:g.7124129C>G	ClinGen:CA10605274	CN169374 not specified;
NM_000018.4(ACADVL):c.324T>G (p.Pro108=)	37	ACADVL	Likely benign	764628802	RCV001471975;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124131	7124131	7124131	-
NM_000018.4(ACADVL):c.324T>C (p.Pro108=)	37	ACADVL	Likely benign	764628802	RCV002118382;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124131	7124131	7124131	-
NM_000018.4(ACADVL):c.325G>A (p.Val109Met)	37	ACADVL	Uncertain significance	754207297	RCV000626269\|RCV002529784;	N	MONDO:MONDO:0010797,MedGen:C0342784,OMIM:557000, Orphanet:699\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124132	7124132	17:g.7124132G>A	ClinGen:CA8337650	C0342784 557000 Pearson marrow-pancreas syndrome;
NM_000018.4(ACADVL):c.329C>T (p.Ser110Phe)	37	ACADVL	Uncertain significance	757608507	RCV001200684;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124136	7124136	17:g.7124136C>T	-
NM_000018.4(ACADVL):c.329C>A (p.Ser110Tyr)	37	ACADVL	Uncertain significance	757608507	RCV001923685;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124136	7124136	7124136	-
NM_000018.4(ACADVL):c.331_339del (p.Arg111_Phe113del)	37	ACADVL	Uncertain significance	1555527820	RCV000667871;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124137	7124145	17:g.7124137_7124145del	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.330C>T (p.Ser110=)	37	ACADVL	Likely benign	-1	RCV002899364;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124137	7124137		-
NM_000018.4(ACADVL):c.331C>T (p.Arg111Cys)	37	ACADVL	Uncertain significance	370929055	RCV001941114;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124138	7124138	7124138	-
NM_000018.4(ACADVL):c.332G>A (p.Arg111His)	37	ACADVL	Uncertain significance	958166043	RCV001944224;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124139	7124139	7124139	-
NM_000018.4(ACADVL):c.335dup (p.Phe113fs)	37	ACADVL	Likely pathogenic	-1	RCV003164885;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124139	7124140		-
NM_000018.4(ACADVL):c.335del (p.Phe112fs)	37	ACADVL	Pathogenic/Likely pathogenic	764028320	RCV001779476;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124140	7124140	7124139	-
NM_000018.4(ACADVL):c.333T>C (p.Arg111=)	37	ACADVL	Likely benign	2142967414	RCV002214732;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124140	7124140	7124140	-
NM_000018.4(ACADVL):c.336C>T (p.Phe112=)	37	ACADVL	Likely benign	537031882	RCV000930448;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124143	7124143	17:g.7124143C>T	-
NM_000018.4(ACADVL):c.337T>A (p.Phe113Ile)	37	ACADVL	Likely pathogenic	-1	RCV002876117;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124144	7124144	NC_000017.10:g.7124144T>A	-
NM_000018.4(ACADVL):c.338T>C (p.Phe113Ser)	37	ACADVL	Uncertain significance	2071172343	RCV001200685;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124145	7124145	17:g.7124145T>C	-
NM_000018.4(ACADVL):c.339C>A (p.Phe113Leu)	37	ACADVL	Uncertain significance	750653177	RCV000541584;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124146	7124146	17:g.7124146C>A	ClinGen:CA397722617	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.339C>T (p.Phe113=)	37	ACADVL	Likely benign	750653177	RCV001437723;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124146	7124146	7124146	-
NM_000018.4(ACADVL):c.340G>A (p.Glu114Lys)	37	ACADVL	Uncertain significance	557260142	RCV000652033;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124147	7124147	NC_000017.10:g.7124147G>A	ClinGen:CA8337656	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.342+1G>C	37	ACADVL	Pathogenic	780020193	RCV000556138;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124150	7124150	17:g.7124150G>C	ClinGen:CA397722627	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.342+1G>A	37	ACADVL	Likely pathogenic	-1	RCV002286684;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124150	7124150	7124150	-
NM_000018.4(ACADVL):c.342+4A>C	37	ACADVL	Uncertain significance	-1	RCV002654384;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124153	7124153	NC_000017.10:g.7124153A>C	-
NM_000018.4(ACADVL):c.342+10G>T	37	ACADVL	Likely benign	1226688830	RCV001416179;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124159	7124159	7124159	-
NM_000018.4(ACADVL):c.342+12C>G	37	ACADVL	Likely benign	-1	RCV002667562;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124161	7124161	NC_000017.10:g.7124161C>G	-
NM_000018.4(ACADVL):c.342+14C>T	37	ACADVL	Likely benign	567468883	RCV000671615;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124163	7124163	17:g.7124163C>T	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.342+15G>A	37	ACADVL	Uncertain significance	777751102	RCV000671604;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124164	7124164	17:g.7124164G>A	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.342+16G>C	37	ACADVL	Likely benign	536497611	RCV000671687;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124165	7124165	17:g.7124165G>C	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.342+17G>T	37	ACADVL	Likely benign	368213180	RCV002009499;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124166	7124166	7124166	-
NM_000018.4(ACADVL):c.342+17G>C	37	ACADVL	Likely benign	-1	RCV002629795;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124166	7124166	NC_000017.10:g.7124166G>C	-
NM_000018.4(ACADVL):c.342+18G>A	37	ACADVL	Conflicting interpretations of pathogenicity	372594520	RCV001334153;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124167	7124167	7124167	-
NM_000018.4(ACADVL):c.342+25C>T	37	ACADVL	Likely benign	771711857	RCV000672069;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124174	7124174	17:g.7124174C>T	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.343-41C>A	37	ACADVL	Likely benign	368107662	RCV000671327;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124202	7124202	17:g.7124202C>A	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.343-23G>A	37	ACADVL	Likely benign	781064781	RCV000666049;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124220	7124220	17:g.7124220G>A	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.343-19G>A	37	ACADVL	Likely benign	2090623176	RCV002113345;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124224	7124224	7124224	-
NM_000018.4(ACADVL):c.343-14T>C	37	ACADVL	Conflicting interpretations of pathogenicity	200368309	RCV001122814;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124229	7124229	17:g.7124229T>C	-
NM_000018.4(ACADVL):c.343-13G>A	37	ACADVL	Likely benign	1250954751	RCV002117205;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124230	7124230	7124230	-
NM_000018.4(ACADVL):c.343-10C>T	37	ACADVL	Likely benign	2142968470	RCV002155425;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124233	7124233	7124233	-
NM_000018.4(ACADVL):c.343-10C>A	37	ACADVL	Likely benign	2142968470	RCV002187770;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124233	7124233	7124233	-
NM_000018.4(ACADVL):c.343-8T>A	37	ACADVL	Likely benign	-1	RCV003083965;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124235	7124235	NC_000017.10:g.7124235T>A	-
NM_000018.4(ACADVL):c.343-7T>C	37	ACADVL	Likely benign	2142968501	RCV002143052;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124236	7124236	7124236	-
NM_000018.4(ACADVL):c.343-6C>T	37	ACADVL	Likely benign	-1	RCV002801738;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124237	7124237	NC_000017.10:g.7124237C>T	-
NM_000018.4(ACADVL):c.343del	37	ACADVL	Pathogenic	387906249	RCV000001691\|RCV000077915\|RCV003128226;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	17	7124242	7124242	17:g.7124242_7124242del	ClinGen:CA220206,OMIM:609575.0004,OMIM:609575.0005	CN517202 not provided;
NM_000018.4(ACADVL):c.343-1G>A	37	ACADVL	Pathogenic	1555527877	RCV001200672\|RCV002250361;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7124242	7124242	17:g.7124242G>A	-
NM_000018.4(ACADVL):c.343G>C (p.Glu115Gln)	37	ACADVL	Uncertain significance	370146676	RCV001200853;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124243	7124243	17:g.7124243G>C	-
NM_000018.4(ACADVL):c.343G>T (p.Glu115Ter)	37	ACADVL	Likely pathogenic	370146676	RCV001200673;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124243	7124243	17:g.7124243G>T	-
NM_000018.4(ACADVL):c.346G>A (p.Val116Met)	37	ACADVL	Uncertain significance	-1	RCV002904151;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124246	7124246	NC_000017.10:g.7124246G>A	-
NM_000018.4(ACADVL):c.353_358del (p.Asp118_Pro119del)	37	ACADVL	Uncertain significance	2071181405	RCV001200686;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124251	7124256	17:g.7124251_7124256del	-
NM_000018.4(ACADVL):c.351C>T (p.Asn117=)	37	ACADVL	Likely benign	779745734	RCV001461510;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124251	7124251	7124251	-
NM_000018.4(ACADVL):c.351C>G (p.Asn117Lys)	37	ACADVL	Uncertain significance	779745734	RCV002227347;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124251	7124251	7124251	-
NM_000018.4(ACADVL):c.352G>A (p.Asp118Asn)	37	ACADVL	Uncertain significance	543878973	RCV001045554;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124252	7124252	17:g.7124252G>A	-
NM_000018.4(ACADVL):c.358_360del (p.Ala120del)	37	ACADVL	Uncertain significance	761449573	RCV001200687;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124256	7124258	17:g.7124256_7124258del	-
NM_000018.4(ACADVL):c.357C>T (p.Pro119=)	37	ACADVL	Likely benign	1443253379	RCV001494704;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124257	7124257	7124257	-
NM_000018.4(ACADVL):c.363G>A (p.Lys121=)	37	ACADVL	Likely benign	768219726	RCV001503817;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124263	7124263	7124263	-
NM_000018.4(ACADVL):c.365dup (p.Asn122fs)	37	ACADVL	Likely pathogenic	-1	RCV003474421;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124263	7124264		-
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp)	37	ACADVL	Likely pathogenic	1057520088	RCV000432463\|RCV000690847;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124264	7124264	17:g.7124264A>G	ClinGen:CA16603209	CN517202 not provided;
NM_000018.4(ACADVL):c.366T>C (p.Asn122=)	37	ACADVL	Likely benign	-1	RCV002829869;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124266	7124266		-
NM_000018.4(ACADVL):c.367G>A (p.Asp123Asn)	37	ACADVL	Uncertain significance	1347143307	RCV001200688;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124267	7124267	17:g.7124267G>A	-
NM_000018.4(ACADVL):c.367G>T (p.Asp123Tyr)	37	ACADVL	Uncertain significance	1347143307	RCV001200689;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124267	7124267	17:g.7124267G>T	-
NM_000018.4(ACADVL):c.368A>G (p.Asp123Gly)	37	ACADVL	Uncertain significance	1131691301	RCV000494469\|RCV001829408;	N	MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124268	7124268	NC_000017.10:g.7124268A>G	ClinGen:CA397722756
NM_000018.4(ACADVL):c.369C>T (p.Asp123=)	37	ACADVL	Likely benign	374524648	RCV001454613\|RCV001712395;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7124269	7124269	17:g.7124269C>T	ClinGen:CA8337688	CN169374 not specified;
NM_000018.4(ACADVL):c.369C>A (p.Asp123Glu)	37	ACADVL	Uncertain significance	374524648	RCV001937994;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124269	7124269	7124269	-
NM_000018.4(ACADVL):c.370G>A (p.Ala124Thr)	37	ACADVL	Uncertain significance	560912181	RCV001974044;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124270	7124270	7124270	-
NM_000018.4(ACADVL):c.370G>T (p.Ala124Ser)	37	ACADVL	Uncertain significance	560912181	RCV001888872;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124270	7124270	7124270	-
NM_000018.4(ACADVL):c.372T>C (p.Ala124=)	37	ACADVL	Likely benign	2142968911	RCV002155108;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124272	7124272	7124272	-
NM_000018.4(ACADVL):c.374T>C (p.Leu125Pro)	37	ACADVL	Uncertain significance	1416443472	RCV000706914;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124274	7124274	17:g.7124274T>C	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.378G>T (p.Glu126Asp)	37	ACADVL	Uncertain significance	2071183181	RCV001200812;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124278	7124278	17:g.7124278G>T	-
NM_000018.4(ACADVL):c.381G>A (p.Met127Ile)	37	ACADVL	Uncertain significance	773608087	RCV001947709\|RCV003355650;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MeSH:D030342,MedGen:C0950123	17	7124281	7124281	7124281	-
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del)	37	ACADVL	Pathogenic	387906251	RCV000001693\|RCV001596930\|RCV003430629;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900\|	17	7124284	7124286	17:g.7124284_7124286del	ClinGen:CA251904,OMIM:609575.0006	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.385G>A (p.Glu129Lys)	37	ACADVL	Uncertain significance	1402849815	RCV000593991\|RCV001346101;	N	MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124285	7124285	17:g.7124285G>A	ClinGen:CA397722790	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.388del (p.Glu130fs)	37	ACADVL	Likely pathogenic	2142969054	RCV001388139;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124287	7124287	7124286	-
NM_000018.4(ACADVL):c.388_391dup (p.Thr131fs)	37	ACADVL	Likely pathogenic	-1	RCV003460223;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124287	7124288		-
NM_000018.4(ACADVL):c.390G>A (p.Glu130=)	37	ACADVL	Likely benign	2142969071	RCV002166651;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124290	7124290	7124290	-
NM_000018.4(ACADVL):c.390G>C (p.Glu130Asp)	37	ACADVL	Uncertain significance	-1	RCV003079826;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124290	7124290	NC_000017.10:g.7124290G>C	-
NM_000018.4(ACADVL):c.393C>G (p.Thr131=)	37	ACADVL	Likely benign	754931255	RCV000530066;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124293	7124293	17:g.7124293C>G	ClinGen:CA8337694	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.393C>T (p.Thr131=)	37	ACADVL	Likely benign	754931255	RCV001475661;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124293	7124293	7124293	-
NM_000018.4(ACADVL):c.396T>G (p.Thr132=)	37	ACADVL	Likely benign	1202646536	RCV001455666;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124296	7124296	7124296	-
NM_000018.4(ACADVL):c.396T>C (p.Thr132=)	37	ACADVL	Likely benign	1202646536	RCV002155601;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124296	7124296	7124296	-
NM_000018.4(ACADVL):c.398G>A (p.Trp133Ter)	37	ACADVL	Likely pathogenic	1555527907	RCV000675043;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124298	7124298	17:g.7124298G>A	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.398G>C (p.Trp133Ser)	37	ACADVL	Uncertain significance	-1	RCV003057721;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124298	7124298	NC_000017.10:g.7124298G>C	-
NM_000018.4(ACADVL):c.401dup (p.Leu136fs)	37	ACADVL	Pathogenic	-1	RCV002862255;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124300	7124301	NC_000017.10:g.7124301dup	-
NM_000018.4(ACADVL):c.404_412del (p.Gly135_Lys137del)	37	ACADVL	Uncertain significance	2071184523	RCV001200813;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124301	7124309	17:g.7124301_7124309del	-
NM_000018.4(ACADVL):c.402G>A (p.Gln134=)	37	ACADVL	Likely benign	2142969249	RCV001397841;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124302	7124302	7124302	-
NM_000018.4(ACADVL):c.403G>T (p.Gly135Cys)	37	ACADVL	Uncertain significance	-1	RCV002903440;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124303	7124303	NC_000017.10:g.7124303G>T	-
NM_000018.4(ACADVL):c.406C>G (p.Leu136Val)	37	ACADVL	Uncertain significance	1460246415	RCV001287752;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124306	7124306	7124306	-
NM_000018.4(ACADVL):c.406C>T (p.Leu136Phe)	37	ACADVL	Pathogenic	1460246415	RCV001943414;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124306	7124306	7124306	-
NM_000018.4(ACADVL):c.411G>A (p.Lys137=)	37	ACADVL	Likely benign	2142969322	RCV002100182;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124311	7124311	7124311	-
NM_000018.4(ACADVL):c.414G>A (p.Glu138=)	37	ACADVL	Likely benign	767727881	RCV002185389;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124314	7124314	7124314	-
NM_000018.4(ACADVL):c.421dup (p.Ala141fs)	37	ACADVL	Likely pathogenic	2071185652	RCV001223162;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124316	7124317	17:g.7124316_7124317insG	-
NM_000018.4(ACADVL):c.418G>A (p.Gly140Arg)	37	ACADVL	Likely pathogenic	2142969408	RCV001999308;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124318	7124318	7124318	-
NM_000018.4(ACADVL):c.428_467del (p.Gly143fs)	37	ACADVL	Pathogenic	758144859	RCV000480851\|RCV000671508;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124319	7124358	17:g.7124319_7124358del	ClinGen:CA8337697	CN517202 not provided;
NM_000018.4(ACADVL):c.419G>A (p.Gly140Glu)	37	ACADVL	Likely pathogenic	2071185757	RCV001042754;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124319	7124319	17:g.7124319G>A	-
NM_000018.4(ACADVL):c.423C>T (p.Ala141=)	37	ACADVL	Likely benign	757296575	RCV001421302;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124323	7124323	7124323	-
NM_000018.4(ACADVL):c.425T>C (p.Phe142Ser)	37	ACADVL	Uncertain significance	398123088	RCV000077916\|RCV000984921;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124325	7124325	17:g.7124325T>C	ClinGen:CA220207	CN169374 not specified;
NM_000018.4(ACADVL):c.427G>T (p.Gly143Cys)	37	ACADVL	Uncertain significance	794727773	RCV000179233\|RCV001852231;	N	MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124327	7124327	17:g.7124327G>T	ClinGen:CA246510	CN169374 not specified;
NM_000018.4(ACADVL):c.427G>A (p.Gly143Ser)	37	ACADVL	Likely pathogenic	794727773	RCV001990553;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124327	7124327	7124327	-
NM_000018.4(ACADVL):c.428G>A (p.Gly143Asp)	37	ACADVL	Conflicting interpretations of pathogenicity	1458941582	RCV000756958\|RCV001200815;	N	MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124328	7124328	NC_000017.10:g.7124328G>A	-
NM_000018.4(ACADVL):c.428G>C (p.Gly143Ala)	37	ACADVL	Uncertain significance	1458941582	RCV001200814;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124328	7124328	17:g.7124328G>C	-
NM_000018.4(ACADVL):c.430C>G (p.Leu144Val)	37	ACADVL	Uncertain significance	-1	RCV002286683;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124330	7124330	7124330	-
NM_000018.4(ACADVL):c.431T>C (p.Leu144Pro)	37	ACADVL	Uncertain significance	1555527925	RCV000652038;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124331	7124331	NC_000017.10:g.7124331T>C	ClinGen:CA397722889	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.432G>C (p.Leu144=)	37	ACADVL	Likely benign	778968978	RCV001399842;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124332	7124332	7124332	-
NM_000018.4(ACADVL):c.432G>A (p.Leu144=)	37	ACADVL	Likely benign	778968978	RCV001422572;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124332	7124332	7124332	-
NM_000018.4(ACADVL):c.433C>T (p.Gln145Ter)	37	ACADVL	Likely pathogenic	786204738	RCV000169585;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124333	7124333	NC_000017.10:g.7124333C>T	ClinGen:CA274436	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.434A>C (p.Gln145Pro)	37	ACADVL	Uncertain significance	-1	RCV003035127;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124334	7124334	NC_000017.10:g.7124334A>C	-
NM_000018.4(ACADVL):c.435A>G (p.Gln145=)	37	ACADVL	Uncertain significance	-1	RCV002599627;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124335	7124335		-
NM_000018.4(ACADVL):c.436G>C (p.Val146Leu)	37	ACADVL	Conflicting interpretations of pathogenicity	398123089	RCV000077917\|RCV001854368;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124336	7124336	17:g.7124336G>C	ClinGen:CA220209	CN169374 not specified;
NM_000018.4(ACADVL):c.436G>A (p.Val146Met)	37	ACADVL	Uncertain significance	398123089	RCV001200816;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124336	7124336	17:g.7124336G>A	-
NM_000018.4(ACADVL):c.437T>G (p.Val146Gly)	37	ACADVL	Pathogenic	2142969655	RCV001949554;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124337	7124337	7124337	-
NM_000018.4(ACADVL):c.439C>T (p.Pro147Ser)	37	ACADVL	Uncertain significance	1032857886	RCV000673732;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124339	7124339	17:g.7124339C>T	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.441del (p.Ser148fs)	37	ACADVL	Likely pathogenic	2142969688	RCV001580623;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124339	7124339	7124338	-
NM_000018.4(ACADVL):c.442A>T (p.Ser148Cys)	37	ACADVL	Uncertain significance	892944229	RCV001992443;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124342	7124342	7124342	-
NM_000018.4(ACADVL):c.443G>C (p.Ser148Thr)	37	ACADVL	Uncertain significance	-1	RCV003072676;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124343	7124343	NC_000017.10:g.7124343G>C	-
NM_000018.4(ACADVL):c.444T>C (p.Ser148=)	37	ACADVL	Likely benign	2142969724	RCV002218970;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124344	7124344	7124344	-
NM_000018.4(ACADVL):c.447G>A (p.Glu149=)	37	ACADVL	Likely benign	2142969733	RCV001480680;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124347	7124347	7124347	-
NM_000018.4(ACADVL):c.455G>A (p.Gly152Asp)	37	ACADVL	Uncertain significance	794727772	RCV000179232\|RCV001337172;	N	MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124355	7124355	17:g.7124355G>A	ClinGen:CA246508	CN169374 not specified;
NM_000018.4(ACADVL):c.455G>T (p.Gly152Val)	37	ACADVL	Uncertain significance	-1	RCV003139569;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124355	7124355	NC_000017.10:g.7124355G>T	-
NM_000018.4(ACADVL):c.456T>C (p.Gly152=)	37	ACADVL	Likely benign	1009994523	RCV002119613;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124356	7124356	7124356	-
NM_000018.4(ACADVL):c.457G>T (p.Val153Leu)	37	ACADVL	Uncertain significance	894284973	RCV001933519;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124357	7124357	7124357	-
NM_000018.4(ACADVL):c.459G>A (p.Val153=)	37	ACADVL	Likely benign	2142969815	RCV001471844;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124359	7124359	7124359	-
NM_000018.4(ACADVL):c.461G>C (p.Gly154Ala)	37	ACADVL	Uncertain significance	2071188406	RCV001200817;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124361	7124361	17:g.7124361G>C	-
NM_000018.4(ACADVL):c.461G>A (p.Gly154Asp)	37	ACADVL	Uncertain significance	-1	RCV002620216;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124361	7124361	NC_000017.10:g.7124361G>A	-
NM_000018.4(ACADVL):c.465_466dup (p.Cys156fs)	37	ACADVL	Pathogenic	2142969858	RCV001972837;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124363	7124364	7124363	-
NM_000018.4(ACADVL):c.465T>C (p.Leu155=)	37	ACADVL	Likely benign	-1	RCV002815241;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124365	7124365		-
NM_000018.4(ACADVL):c.466T>C (p.Cys156Arg)	37	ACADVL	Uncertain significance	2071188725	RCV001200818;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124366	7124366	17:g.7124366T>C	-
NM_000018.4(ACADVL):c.467G>C (p.Cys156Ser)	37	ACADVL	Uncertain significance	139973845	RCV001200854;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124367	7124367	17:g.7124367G>C	-
NM_000018.4(ACADVL):c.475del (p.Gln159fs)	37	ACADVL	Likely pathogenic	-1	RCV002308148;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124373	7124373	7124372	-
NM_000018.4(ACADVL):c.475C>G (p.Gln159Glu)	37	ACADVL	Uncertain significance	779650201	RCV002005661;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124375	7124375	7124375	-
NM_000018.4(ACADVL):c.476A>G (p.Gln159Arg)	37	ACADVL	Uncertain significance	746688190	RCV001200731;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124376	7124376	17:g.7124376A>G	-
NM_000018.4(ACADVL):c.477G>C (p.Gln159His)	37	ACADVL	Uncertain significance	2071189324	RCV001200819;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124377	7124377	17:g.7124377G>C	-
NM_000018.4(ACADVL):c.477+1G>C	37	ACADVL	Likely pathogenic	2142969951	RCV002033275;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124378	7124378	7124378	-
NM_000018.4(ACADVL):c.477+7G>T	37	ACADVL	Likely benign	1279805508	RCV001433737;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124384	7124384	17:g.7124384G>T	-
NM_000018.4(ACADVL):c.477+7G>A	37	ACADVL	Likely benign	1279805508	RCV002178112;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124384	7124384	7124384	-
NM_000018.4(ACADVL):c.477+8C>T	37	ACADVL	Conflicting interpretations of pathogenicity	1437698813	RCV001200850;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124385	7124385	17:g.7124385C>T	-
NM_000018.4(ACADVL):c.477+9G>A	37	ACADVL	Likely benign	780716056	RCV001418051;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124386	7124386	7124386	-
NM_000018.4(ACADVL):c.477+12C>G	37	ACADVL	Likely benign	1057523521	RCV000426805\|RCV002063487;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124389	7124389	17:g.7124389C>G	ClinGen:CA16607869	CN169374 not specified;
NM_000018.4(ACADVL):c.477+14A>G	37	ACADVL	Likely benign	1483410961	RCV002002353;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124391	7124391	7124391	-
NM_000018.4(ACADVL):c.477+14_477+16del	37	ACADVL	Likely benign	767953226	RCV001974987;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124391	7124393	7124390	-
NM_000018.4(ACADVL):c.477+16C>T	37	ACADVL	Benign	202059117	RCV002149639;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124393	7124393	7124393	-
NM_000018.4(ACADVL):c.477+17G>A	37	ACADVL	Uncertain significance	375076326	RCV000429679\|RCV001200851;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124394	7124394	17:g.7124394G>A	ClinGen:CA8337710	CN169374 not specified;
NM_000018.4(ACADVL):c.477+17G>T	37	ACADVL	Likely benign	-1	RCV002912848;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124394	7124394	NC_000017.10:g.7124394G>T	-
NM_000018.4(ACADVL):c.477+50A>T	37	ACADVL	Conflicting interpretations of pathogenicity	150033153	RCV001200849\|RCV001534131;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7124427	7124427	17:g.7124427A>T	-
NM_000018.4(ACADVL):c.478-106del	37	ACADVL	Benign	370388543	RCV000835892\|RCV001548809;	N	MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124751	7124751	17:g.7124751_7124751del	-
NM_000018.4(ACADVL):c.478-89T>C	37	ACADVL	Benign	9646410	RCV001537760;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124768	7124768	7124768	-
NM_000018.4(ACADVL):c.478-44C>T	37	ACADVL	Uncertain significance	754668930	RCV001200767;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124813	7124813	17:g.7124813C>T	-
NM_000018.4(ACADVL):c.478-22_478-21del	37	ACADVL	Benign	60400822	RCV000246943\|RCV001000914\|RCV001675681;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7124835	7124836	17:g.7124835_7124836del	ClinGen:CA8337734	CN169374 not specified;
NM_000018.4(ACADVL):c.478-20G>C	37	ACADVL	Likely benign	746194631	RCV002163525;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124837	7124837	7124837	-
NM_000018.4(ACADVL):c.478-13G>A	37	ACADVL	Likely benign	-1	RCV002944020;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124844	7124844	NC_000017.10:g.7124844G>A	-
NM_000018.4(ACADVL):c.478-6del	37	ACADVL	Benign	2071224181	RCV002095067;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124848	7124848	7124847	-
NM_000018.4(ACADVL):c.478-8C>G	37	ACADVL	Likely benign	1300294861	RCV001497619;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124849	7124849	17:g.7124849C>G	-
NM_000018.4(ACADVL):c.478-8C>T	37	ACADVL	Likely benign	-1	RCV003078680;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124849	7124849	NC_000017.10:g.7124849C>T	-
NM_000018.4(ACADVL):c.478-7C>T	37	ACADVL	Likely benign	-1	RCV002603391;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124850	7124850	NC_000017.10:g.7124850C>T	-
NM_000018.4(ACADVL):c.478-6C>T	37	ACADVL	Likely benign	2142973845	RCV002089016;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124851	7124851	7124851	-
NM_000018.4(ACADVL):c.478-4C>T	37	ACADVL	Likely benign	-1	RCV003034572;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124853	7124853	NC_000017.10:g.7124853C>T	-
NM_000018.4(ACADVL):c.478-1G>C	37	ACADVL	Likely pathogenic	1057517130	RCV000411583;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124856	7124856	NC_000017.10:g.7124856G>C	ClinGen:CA16041860	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.479_486del	37	ACADVL	Likely pathogenic	-1	RCV003460243;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124856	7124863		-
NM_000018.4(ACADVL):c.480C>T (p.Tyr160=)	37	ACADVL	Likely benign	371910495	RCV000996472\|RCV001398811;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124859	7124859	17:g.7124859C>T	-
NM_000018.4(ACADVL):c.480C>G (p.Tyr160Ter)	37	ACADVL	Likely pathogenic	371910495	RCV001226208;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124859	7124859	17:g.7124859C>G	-
NM_000018.4(ACADVL):c.481G>A (p.Ala161Thr)	37	ACADVL	Conflicting interpretations of pathogenicity	375284481	RCV000271784;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124860	7124860	NC_000017.10:g.7124860G>A	ClinGen:CA8337740	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.482C>T (p.Ala161Val)	37	ACADVL	Conflicting interpretations of pathogenicity	796051908	RCV000185711\|RCV000675132;	N	MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124861	7124861	17:g.7124861C>T	ClinGen:CA312251	CN517202 not provided;
NM_000018.4(ACADVL):c.483C>A (p.Ala161=)	37	ACADVL	Likely benign	573137772	RCV002149046;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124862	7124862	7124862	-
NM_000018.4(ACADVL):c.484C>T (p.Arg162Cys)	37	ACADVL	Uncertain significance	751423064	RCV001200820;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124863	7124863	17:g.7124863C>T	-
NM_000018.4(ACADVL):c.485G>A (p.Arg162His)	37	ACADVL	Conflicting interpretations of pathogenicity	754756970	RCV000755780\|RCV000820712;	N	MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124864	7124864	NC_000017.10:g.7124864G>A	-
NM_000018.4(ACADVL):c.488dup (p.Leu163fs)	37	ACADVL	Pathogenic	2142974010	RCV001979788;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124864	7124865	7124864	-
NM_000018.4(ACADVL):c.490G>C (p.Val164Leu)	37	ACADVL	Uncertain significance	1240846419	RCV002032916;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124869	7124869	7124869	-
NM_000018.4(ACADVL):c.491T>G (p.Val164Gly)	37	ACADVL	Conflicting interpretations of pathogenicity	2071225938	RCV001200821;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124870	7124870	17:g.7124870T>G	-
NM_000018.4(ACADVL):c.491T>C (p.Val164Ala)	37	ACADVL	Uncertain significance	2071225938	RCV002006364;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124870	7124870	7124870	-
NM_000018.4(ACADVL):c.493G>A (p.Glu165Lys)	37	ACADVL	Uncertain significance	2071226145	RCV001200822;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124872	7124872	17:g.7124872G>A	-
NM_000018.4(ACADVL):c.494A>T (p.Glu165Val)	37	ACADVL	Uncertain significance	-1	RCV002286690;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124873	7124873	7124873	-
NM_000018.4(ACADVL):c.495G>T (p.Glu165Asp)	37	ACADVL	Uncertain significance	370169077	RCV000077918\|RCV000723695\|RCV001372480;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124874	7124874	17:g.7124874G>T	ClinGen:CA220211	CN169374 not specified;
NM_000018.4(ACADVL):c.495G>A (p.Glu165=)	37	ACADVL	Likely benign	370169077	RCV000877618;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124874	7124874	17:g.7124874G>A	-
NM_000018.4(ACADVL):c.497_498del (p.Ile166fs)	37	ACADVL	Likely pathogenic	1057516369	RCV000412008;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124876	7124877	17:g.7124876_7124877del	ClinGen:CA16041861	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del)	37	ACADVL	Conflicting interpretations of pathogenicity	796051920	RCV000185744\|RCV001200826;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124877	7124897	17:g.7124877_7124897del	ClinGen:CA312294	CN517202 not provided;
NM_000018.4(ACADVL):c.498C>A (p.Ile166=)	37	ACADVL	Likely benign	370565071	RCV001416653;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124877	7124877	7124877	-
NM_000018.4(ACADVL):c.498C>T (p.Ile166=)	37	ACADVL	Likely benign	370565071	RCV001505483;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124877	7124877	7124877	-
NM_000018.4(ACADVL):c.499G>A (p.Val167Met)	37	ACADVL	Uncertain significance	199991742	RCV001200823;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124878	7124878	17:g.7124878G>A	-
NM_000018.4(ACADVL):c.501G>C (p.Val167=)	37	ACADVL	Likely benign	2142974194	RCV002168001;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124880	7124880	7124880	-
NM_000018.4(ACADVL):c.501G>A (p.Val167=)	37	ACADVL	Likely benign	2142974194	RCV002121221;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124880	7124880	7124880	-
NM_000018.4(ACADVL):c.503G>A (p.Gly168Asp)	37	ACADVL	Uncertain significance	2071227236	RCV001200824;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124882	7124882	17:g.7124882G>A	-
NM_000018.4(ACADVL):c.504C>T (p.Gly168=)	37	ACADVL	Likely benign	-1	RCV002750333;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124883	7124883		-
NM_000018.4(ACADVL):c.505A>G (p.Met169Val)	37	ACADVL	Uncertain significance	2071227343	RCV001200825;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124884	7124884	17:g.7124884A>G	-
NM_000018.4(ACADVL):c.506T>C (p.Met169Thr)	37	ACADVL	Uncertain significance	1382262076	RCV001063820;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124885	7124885	17:g.7124885T>C	-
NM_000018.4(ACADVL):c.506T>G (p.Met169Arg)	37	ACADVL	Uncertain significance	1382262076	RCV001350718;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124885	7124885	7124885	-
NM_000018.4(ACADVL):c.509A>G (p.His170Arg)	37	ACADVL	Uncertain significance	-1	RCV002594006;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124888	7124888	NC_000017.10:g.7124888A>G	-
NM_000018.4(ACADVL):c.510T>C (p.His170=)	37	ACADVL	Likely benign	-1	RCV002586201;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124889	7124889		-
NM_000018.4(ACADVL):c.513C>G (p.Asp171Glu)	37	ACADVL	Conflicting interpretations of pathogenicity	2071227581	RCV001200735\|RCV003396813;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN169374	17	7124892	7124892	17:g.7124892C>G	-
NM_000018.4(ACADVL):c.515T>C (p.Leu172Pro)	37	ACADVL	Likely pathogenic	1597524963	RCV000995475;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124894	7124894	17:g.7124894T>C	-
NM_000018.4(ACADVL):c.517G>C (p.Gly173Arg)	37	ACADVL	Uncertain significance	2071227774	RCV001963915;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124896	7124896	7124896	-
NM_000018.4(ACADVL):c.519C>T (p.Gly173=)	37	ACADVL	Likely benign	757830946	RCV001229075;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124898	7124898	17:g.7124898C>T	-
NM_000018.4(ACADVL):c.520G>A (p.Val174Met)	37	ACADVL	Pathogenic/Likely pathogenic	369560930	RCV000077919\|RCV000179696;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124899	7124899	17:g.7124899G>A	ClinGen:CA220213,UniProtKB:P49748#VAR_000334	CN517202 not provided;
NM_000018.4(ACADVL):c.521T>C (p.Val174Ala)	37	ACADVL	Conflicting interpretations of pathogenicity	372684079	RCV000755770\|RCV001200736;	N	MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124900	7124900	NC_000017.10:g.7124900T>C	-
NM_000018.4(ACADVL):c.526A>C (p.Ile176Leu)	37	ACADVL	Uncertain significance	1300720825	RCV001326138;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124905	7124905	7124905	-
NM_000018.4(ACADVL):c.531C>T (p.Thr177=)	37	ACADVL	Likely benign	2071228805	RCV001491155;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124910	7124910	7124910	-
NM_000018.4(ACADVL):c.531C>G (p.Thr177=)	37	ACADVL	Likely benign	2071228805	RCV001958813;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124910	7124910	7124910	-
NM_000018.4(ACADVL):c.532C>T (p.Leu178=)	37	ACADVL	Likely benign	376092908	RCV001895944;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124911	7124911	7124911	-
NM_000018.4(ACADVL):c.533T>C (p.Leu178Pro)	37	ACADVL	Conflicting interpretations of pathogenicity	1131691808	RCV000493429\|RCV001200737\|RCV002524042;	N	MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MeSH:D030342,MedGen:C0950123	17	7124912	7124912	NC_000017.10:g.7124912T>C	ClinGen:CA397723106
NM_000018.4(ACADVL):c.535G>T (p.Gly179Trp)	37	ACADVL	Uncertain significance	796051909	RCV000671223\|RCV002282015;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN169374	17	7124914	7124914	NC_000017.10:g.7124914G>T	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.535G>A (p.Gly179Arg)	37	ACADVL	Uncertain significance	796051909	RCV001041356;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124914	7124914	17:g.7124914G>A	-
NM_000018.4(ACADVL):c.537G>A (p.Gly179=)	37	ACADVL	Likely benign	1597525140	RCV002102929;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124916	7124916	7124916	-
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr)	37	ACADVL	Uncertain significance	727503791	RCV000152735\|RCV000675106;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124917	7124917	17:g.7124917G>A	ClinGen:CA295584	CN517202 not provided;
NM_000018.4(ACADVL):c.541dup (p.His181fs)	37	ACADVL	Pathogenic	1337636757	RCV001200674;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124917	7124918	17:g.7124917_7124918insC	-
NM_000018.4(ACADVL):c.542A>G (p.His181Arg)	37	ACADVL	Uncertain significance	1425862331	RCV000554955\|RCV000594820;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN517202	17	7124921	7124921	17:g.7124921A>G	ClinGen:CA397723123	CN169374 not specified;
NM_000018.4(ACADVL):c.544C>T (p.Gln182Ter)	37	ACADVL	Pathogenic	-1	RCV002862577;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124923	7124923	NC_000017.10:g.7124923C>T	-
NM_000018.4(ACADVL):c.545A>C (p.Gln182Pro)	37	ACADVL	Uncertain significance	2071230096	RCV001200738;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124924	7124924	17:g.7124924A>C	-
NM_000018.4(ACADVL):c.552C>T (p.Ile184=)	37	ACADVL	Likely benign	770961747	RCV000243908\|RCV001419759;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124931	7124931	17:g.7124931C>T	ClinGen:CA8337756	CN169374 not specified;
NM_000018.4(ACADVL):c.552del (p.Ile184fs)	37	ACADVL	Pathogenic	1597525249	RCV000805756;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124931	7124931	17:g.7124931_7124931del	-
NM_000018.4(ACADVL):c.552C>A (p.Ile184=)	37	ACADVL	Pathogenic	770961747	RCV002272871;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124931	7124931		-
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser)	37	ACADVL	Likely pathogenic	545215807	RCV000185742\|RCV000412436\|RCV003416111;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|	17	7124932	7124932	NC_000017.10:g.7124932G>A	ClinGen:CA312291,UniProtKB:P49748#VAR_000335	CN517202 not provided;
NM_000018.4(ACADVL):c.565_587del (p.Ile189fs)	37	ACADVL	Likely pathogenic	1258134795	RCV001062442;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124937	7124959	17:g.7124937_7124959del	-
NM_000018.4(ACADVL):c.562G>A (p.Gly188Ser)	37	ACADVL	Uncertain significance	2071231356	RCV001040243;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124941	7124941	17:g.7124941G>A	-
NM_000018.4(ACADVL):c.563G>A (p.Gly188Asp)	37	ACADVL	Uncertain significance	2071231444	RCV001200739;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124942	7124942	17:g.7124942G>A	-
NM_000018.4(ACADVL):c.567C>T (p.Ile189=)	37	ACADVL	Likely benign	2142974641	RCV001484553;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124946	7124946	7124946	-
NM_000018.4(ACADVL):c.575T>C (p.Phe192Ser)	37	ACADVL	Uncertain significance	1555528189	RCV000597061\|RCV001200740;	N	MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124954	7124954	17:g.7124954T>C	ClinGen:CA397723196	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.576T>C (p.Phe192=)	37	ACADVL	Likely benign	760355468	RCV001451421;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124955	7124955	7124955	-
NM_000018.4(ACADVL):c.577G>C (p.Gly193Arg)	37	ACADVL	Uncertain significance	763630981	RCV001200732;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124956	7124956	17:g.7124956G>C	-
NM_000018.4(ACADVL):c.578G>A (p.Gly193Asp)	37	ACADVL	Uncertain significance	1220348903	RCV000498240\|RCV000673457;	N	MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124957	7124957	17:g.7124957G>A	ClinGen:CA397723203	CN517202 not provided;
NM_000018.4(ACADVL):c.579C>T (p.Gly193=)	37	ACADVL	Likely benign	-1	RCV003164886;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124958	7124958		-
NM_000018.4(ACADVL):c.582A>G (p.Thr194=)	37	ACADVL	Likely benign	113891941	RCV001434194;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124961	7124961	7124961	-
NM_000018.4(ACADVL):c.582A>C (p.Thr194=)	37	ACADVL	Likely benign	113891941	RCV002186156;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124961	7124961	7124961	-
NM_000018.4(ACADVL):c.583A>G (p.Lys195Glu)	37	ACADVL	Uncertain significance	199763196	RCV001048713\|RCV002355029;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MeSH:D030342,MedGen:C0950123	17	7124962	7124962	17:g.7124962A>G	-
NM_000018.4(ACADVL):c.586G>C (p.Ala196Pro)	37	ACADVL	Uncertain significance	-1	RCV002976606;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124965	7124965	NC_000017.10:g.7124965G>C	-
NM_000018.4(ACADVL):c.587C>T (p.Ala196Val)	37	ACADVL	Uncertain significance	201370388	RCV001241261\|RCV001557654\|RCV002357033;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	17	7124966	7124966	17:g.7124966C>T	-
NM_000018.4(ACADVL):c.589del (p.Gln197fs)	37	ACADVL	Likely pathogenic	-1	RCV002309774;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124966	7124966	7124965	-
NM_000018.4(ACADVL):c.595_598del (p.Glu199fs)	37	ACADVL	Likely pathogenic	-1	RCV003474404;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124969	7124972		-
NM_000018.4(ACADVL):c.591G>C (p.Gln197His)	37	ACADVL	Uncertain significance	2071233301	RCV001232551;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124970	7124970	17:g.7124970G>C	-
NM_000018.4(ACADVL):c.592A>G (p.Lys198Glu)	37	ACADVL	Uncertain significance	2071233392	RCV001200741;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124971	7124971	17:g.7124971A>G	-
NM_000018.4(ACADVL):c.601T>C (p.Tyr201His)	37	ACADVL	Pathogenic	2071233789	RCV001050460;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124980	7124980	17:g.7124980T>C	-
NM_000018.4(ACADVL):c.602_605del (p.Tyr201fs)	37	ACADVL	Likely pathogenic	-1	RCV002309765;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124980	7124983	7124979	-
NM_000018.4(ACADVL):c.602_603del (p.Tyr201fs)	37	ACADVL	Pathogenic/Likely pathogenic	1064796104	RCV000487087\|RCV003322775;	N	MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124981	7124982	NC_000017.10:g.7124981_7124982del	ClinGen:CA16620599
NM_000018.4(ACADVL):c.602A>G (p.Tyr201Cys)	37	ACADVL	Likely pathogenic	1597525536	RCV001200733;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124981	7124981	17:g.7124981A>G	-
NM_000018.4(ACADVL):c.603C>G (p.Tyr201Ter)	37	ACADVL	Likely pathogenic	371407903	RCV000670134;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124982	7124982	17:g.7124982C>G	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.603C>A (p.Tyr201Ter)	37	ACADVL	Likely pathogenic	-1	RCV003474414;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124982	7124982		-
NM_000018.4(ACADVL):c.604del (p.Leu202fs)	37	ACADVL	Likely pathogenic	-1	RCV003460248;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124982	7124982		-
NM_000018.4(ACADVL):c.604C>T (p.Leu202Phe)	37	ACADVL	Likely pathogenic	-1	RCV002592007;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124983	7124983	NC_000017.10:g.7124983C>T	-
NM_000018.4(ACADVL):c.604C>G (p.Leu202Val)	37	ACADVL	Pathogenic/Likely pathogenic	-1	RCV002895688;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124983	7124983	NC_000017.10:g.7124983C>G	-
NM_000018.4(ACADVL):c.605T>A (p.Leu202His)	37	ACADVL	Uncertain significance	398123090	RCV000077920\|RCV001001444;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124984	7124984	17:g.7124984T>A	ClinGen:CA220214	CN169374 not specified;
NM_000018.4(ACADVL):c.605T>C (p.Leu202Pro)	37	ACADVL	Conflicting interpretations of pathogenicity	398123090	RCV000723640\|RCV001200734;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124984	7124984	17:g.7124984T>C	ClinGen:CA220216	CN169374 not specified;
NM_000018.4(ACADVL):c.609del (p.Lys204fs)	37	ACADVL	Pathogenic	-1	RCV003022792;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124985	7124985	NC_000017.10:g.7124988del	-
NM_000018.4(ACADVL):c.608C>T (p.Pro203Leu)	37	ACADVL	Uncertain significance	-1	RCV002820111;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124987	7124987	NC_000017.10:g.7124987C>T	-
NM_000018.4(ACADVL):c.609C>A (p.Pro203=)	37	ACADVL	Likely benign	2142975004	RCV002092819;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124988	7124988	7124988	-
NM_000018.4(ACADVL):c.609C>T (p.Pro203=)	37	ACADVL	Likely benign	2142975004	RCV002169915;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124988	7124988	7124988	-
NM_000018.4(ACADVL):c.612G>A (p.Lys204=)	37	ACADVL	Likely benign	149836890	RCV002002446;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124991	7124991	7124991	-
NM_000018.4(ACADVL):c.612G>C (p.Lys204Asn)	37	ACADVL	Uncertain significance	-1	RCV003056522;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124991	7124991	NC_000017.10:g.7124991G>C	-
NM_000018.4(ACADVL):c.613C>G (p.Leu205Val)	37	ACADVL	Uncertain significance	747347662	RCV001979807;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124992	7124992	7124992	-
NM_000018.4(ACADVL):c.614T>C (p.Leu205Pro)	37	ACADVL	Uncertain significance	1597525633	RCV001001445;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124993	7124993	17:g.7124993T>C	-
NM_000018.4(ACADVL):c.619T>C (p.Ser207Pro)	37	ACADVL	Conflicting interpretations of pathogenicity	768975918	RCV000666689;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124998	7124998	17:g.7124998T>C	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.622G>A (p.Gly208Arg)	37	ACADVL	Conflicting interpretations of pathogenicity	748329498	RCV001200726;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125001	7125001	17:g.7125001G>A	-
NM_000018.4(ACADVL):c.622+12C>A	37	ACADVL	Uncertain significance	374633807	RCV000603295\|RCV001200794;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125013	7125013	17:g.7125013C>A	ClinGen:CA8337772	CN169374 not specified;
NM_000018.4(ACADVL):c.622+14A>G	37	ACADVL	Likely benign	2071235916	RCV002192434;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125015	7125015	7125015	-
NM_000018.4(ACADVL):c.622+18G>A	37	ACADVL	Likely benign	200740226	RCV002108589;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125019	7125019	7125019	-
NM_000018.4(ACADVL):c.622+20G>T	37	ACADVL	Likely benign	2071236387	RCV002117310;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125021	7125021	7125021	-
NM_000018.4(ACADVL):c.623-35C>A	37	ACADVL	Uncertain significance	1303764728	RCV001200768;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125236	7125236	17:g.7125236C>A	-
NM_000018.4(ACADVL):c.623-21A>G	37	ACADVL	Likely benign	-1	RCV002937638;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125250	7125250	NC_000017.10:g.7125250A>G	-
NM_000018.4(ACADVL):c.623-19_623-3del	37	ACADVL	Uncertain significance	-1	RCV002895064;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125252	7125268	NC_000017.10:g.7125252_7125268del	-
NM_000018.4(ACADVL):c.623-18T>C	37	ACADVL	Likely benign	777866869	RCV002077964;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125253	7125253	7125253	-
NM_000018.4(ACADVL):c.623-14T>C	37	ACADVL	Likely benign	2142976404	RCV002209693;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125257	7125257	7125257	-
NM_000018.4(ACADVL):c.623-10T>C	37	ACADVL	Likely benign	1021636784	RCV002165902;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125261	7125261	7125261	-
NM_000018.4(ACADVL):c.623-8C>T	37	ACADVL	Benign	144996066	RCV000152736\|RCV000322156;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125263	7125263	17:g.7125263C>T	ClinGen:CA179708	CN169374 not specified;
NM_000018.4(ACADVL):c.623-4A>G	37	ACADVL	Uncertain significance	977348928	RCV001919109;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125267	7125267	7125267	-
NM_000018.4(ACADVL):c.623-2_623-1del	37	ACADVL	Likely pathogenic	1555528265	RCV000671828;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125269	7125270	17:g.7125269_7125270del	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.623-1G>A	37	ACADVL	Likely pathogenic	1597526782	RCV001001446;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125270	7125270	17:g.7125270G>A	-
NM_000018.3(ACADVL):c.625del	37	ACADVL	Likely pathogenic	2071251239	RCV001239427;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125270	7125270	17:g.7125270_7125270del	-
NM_000018.4(ACADVL):c.623G>A (p.Gly208Glu)	37	ACADVL	Uncertain significance	2071251302	RCV001200742\|RCV003396814;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|	17	7125271	7125271	17:g.7125271G>A	-
NM_000018.4(ACADVL):c.624G>A (p.Gly208=)	37	ACADVL	Likely benign	2142976497	RCV001456095;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125272	7125272	7125272	-
NM_000018.4(ACADVL):c.626dup (p.Thr210fs)	37	ACADVL	Pathogenic/Likely pathogenic	2142976531	RCV001992797;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125273	7125274	7125273	-
NM_000018.4(ACADVL):c.625G>C (p.Glu209Gln)	37	ACADVL	Uncertain significance	772055899	RCV001925081;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125273	7125273	7125273	-
NM_000018.4(ACADVL):c.628A>C (p.Thr210Pro)	37	ACADVL	Uncertain significance	775400380	RCV001200743\|RCV001814279\|RCV001806040;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN517202\|MedGen:CN169374	17	7125276	7125276	17:g.7125276A>C	-
NM_000018.4(ACADVL):c.632_633del (p.Val211fs)	37	ACADVL	Likely pathogenic	1489679976	RCV001203253;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125278	7125279	17:g.7125278_7125279del	-
NM_000018.4(ACADVL):c.632T>C (p.Val211Ala)	37	ACADVL	Uncertain significance	-1	RCV003026589;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125280	7125280	NC_000017.10:g.7125280T>C	-
NM_000018.4(ACADVL):c.635C>T (p.Ala212Val)	37	ACADVL	Uncertain significance	2142976575	RCV001364012;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125283	7125283	7125283	-
NM_000018.4(ACADVL):c.636C>T (p.Ala212=)	37	ACADVL	Benign	76547988	RCV000376900\|RCV000421031\|RCV002365388;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN169374\|MeSH:D030342,MedGen:C0950123	17	7125284	7125284	NC_000017.10:g.7125284C>T	ClinGen:CA8337799	CN169374 not specified;
NM_000018.4(ACADVL):c.637G>C (p.Ala213Pro)	37	ACADVL	Conflicting interpretations of pathogenicity	140629318	RCV000152737\|RCV000702574;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125285	7125285	17:g.7125285G>C	ClinGen:CA233431,UniProtKB:P49748#VAR_010101	CN169374 not specified;
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr)	37	ACADVL	Conflicting interpretations of pathogenicity	140629318	RCV000180089\|RCV000723371\|RCV002515289;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	17	7125285	7125285	17:g.7125285G>A	ClinGen:CA275413	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.638C>T (p.Ala213Val)	37	ACADVL	Uncertain significance	2071252145	RCV001200744;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125286	7125286	17:g.7125286C>T	-
NM_000018.4(ACADVL):c.640_643del (p.Phe214fs)	37	ACADVL	Pathogenic	2142976616	RCV001928524;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125286	7125289	7125285	-
NM_000018.4(ACADVL):c.640T>G (p.Phe214Val)	37	ACADVL	Conflicting interpretations of pathogenicity	1192969297	RCV000652043\|RCV000734877;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN517202	17	7125288	7125288	NC_000017.10:g.7125288T>G	ClinGen:CA397723367	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.644_647del (p.Phe214_Cys215insTer)	37	ACADVL	Pathogenic	1057516714	RCV000410797\|RCV001008029;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7125289	7125292	17:g.7125289_7125292del	ClinGen:CA16041862	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.642_643del (p.Phe214fs)	37	ACADVL	Pathogenic	1186576451	RCV001386322;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125289	7125290	7125288	-
NM_000018.4(ACADVL):c.643T>C (p.Cys215Arg)	37	ACADVL	Likely pathogenic	-1	RCV003455820;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125291	7125291		-
NM_000018.4(ACADVL):c.644G>C (p.Cys215Ser)	37	ACADVL	Uncertain significance	-1	RCV002623419;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125292	7125292	NC_000017.10:g.7125292G>C	-
NM_000018.4(ACADVL):c.644G>A (p.Cys215Tyr)	37	ACADVL	Uncertain significance	-1	RCV002806498;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125292	7125292	NC_000017.10:g.7125292G>A	-
NM_000018.4(ACADVL):c.644G>T (p.Cys215Phe)	37	ACADVL	Uncertain significance	-1	RCV003033079;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125292	7125292	NC_000017.10:g.7125292G>T	-
NM_000018.4(ACADVL):c.645T>A (p.Cys215Ter)	37	ACADVL	Likely pathogenic	-1	RCV002308349;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125293	7125293	7125293	-
NM_000018.4(ACADVL):c.645T>C (p.Cys215=)	37	ACADVL	Likely benign	-1	RCV002761438;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125293	7125293		-
NM_000018.4(ACADVL):c.650C>T (p.Thr217Ile)	37	ACADVL	Uncertain significance	2071252808	RCV001200745;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125298	7125298	17:g.7125298C>T	-
NM_000018.4(ACADVL):c.652_682dup (p.Ile228fs)	37	ACADVL	Likely pathogenic	746860401	RCV000704804;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125299	7125300	17:g.7125299_7125300insGAGCCCTCAAGCGGGTCAGATGCAGCCTCCA	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.651C>T (p.Thr217=)	37	ACADVL	Likely benign	764913196	RCV002127601;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125299	7125299	7125299	-
NM_000018.4(ACADVL):c.651C>A (p.Thr217=)	37	ACADVL	Uncertain significance	-1	RCV003044560;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125299	7125299		-
NM_000018.4(ACADVL):c.652G>A (p.Glu218Lys)	37	ACADVL	Likely pathogenic	1432183079	RCV000556767;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125300	7125300	17:g.7125300G>A	ClinGen:CA397723393	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.655C>A (p.Pro219Thr)	37	ACADVL	Pathogenic	772898391	RCV001960667;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125303	7125303	7125303	-
NM_000018.4(ACADVL):c.656C>A (p.Pro219His)	37	ACADVL	Likely pathogenic	-1	RCV003036760;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125304	7125304	NC_000017.10:g.7125304C>A	-
NM_000018.4(ACADVL):c.658_659del (p.Ser220fs)	37	ACADVL	Likely pathogenic	-1	RCV002306645;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125305	7125306	7125304	-
NM_000018.4(ACADVL):c.660A>C (p.Ser220=)	37	ACADVL	Likely benign	2142976731	RCV001427231;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125308	7125308	7125308	-
NM_000018.4(ACADVL):c.661A>G (p.Ser221Gly)	37	ACADVL	Uncertain significance	767063791	RCV001938779\|RCV003416627;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|	17	7125309	7125309	7125309	-
NM_000018.4(ACADVL):c.663C>T (p.Ser221=)	37	ACADVL	Likely benign	144255994	RCV000875845\|RCV001703765;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7125311	7125311	17:g.7125311C>T	ClinGen:CA8337806	CN169374 not specified;
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg)	37	ACADVL	Likely pathogenic	398123091	RCV000077922\|RCV000169301;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125312	7125312	17:g.7125312G>A	ClinGen:CA220218	CN517202 not provided;
NM_000018.4(ACADVL):c.664G>C (p.Gly222Arg)	37	ACADVL	Pathogenic/Likely pathogenic	398123091	RCV001576582\|RCV001803373;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125312	7125312	7125312	-
NM_000018.4(ACADVL):c.666G>A (p.Gly222=)	37	ACADVL	Likely benign	755458311	RCV002216383;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125314	7125314	7125314	-
NM_000018.4(ACADVL):c.668C>G (p.Ser223Ter)	37	ACADVL	Likely pathogenic	2071253904	RCV001200675;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125316	7125316	17:g.7125316C>G	-
NM_000018.4(ACADVL):c.669A>G (p.Ser223=)	37	ACADVL	Likely benign	-1	RCV002834481;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125317	7125317		-
NM_000018.4(ACADVL):c.675A>G (p.Ala225=)	37	ACADVL	Likely benign	1367195566	RCV001408724;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125323	7125323	7125323	-
NM_000018.4(ACADVL):c.676del (p.Ala226fs)	37	ACADVL	Likely pathogenic	2071254166	RCV001200841;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125324	7125324	17:g.7125324_7125324del	-
NM_000018.4(ACADVL):c.678C>A (p.Ala226=)	37	ACADVL	Conflicting interpretations of pathogenicity	372114185	RCV000341809\|RCV000725178\|RCV001271776;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125326	7125326	17:g.7125326C>A	ClinGen:CA8337808	CN169374 not specified;
NM_000018.4(ACADVL):c.678C>T (p.Ala226=)	37	ACADVL	Likely benign	372114185	RCV001462165\|RCV002368415;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MeSH:D030342,MedGen:C0950123	17	7125326	7125326	7125326	-
NM_000018.4(ACADVL):c.681C>T (p.Ser227=)	37	ACADVL	Likely benign	-1	RCV002908984;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125329	7125329		-
NM_000018.4(ACADVL):c.682A>T (p.Ile228Phe)	37	ACADVL	Uncertain significance	2071254536	RCV001327882;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125330	7125330	7125330	-
NM_000018.4(ACADVL):c.682A>G (p.Ile228Val)	37	ACADVL	Uncertain significance	2071254536	RCV002048463;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125330	7125330	7125330	-
NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter)	37	ACADVL	Pathogenic	786204536	RCV000169238\|RCV000579295;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7125333	7125333	17:g.7125333C>T	ClinGen:CA274078	CN517202 not provided;
NM_000018.4(ACADVL):c.685C>G (p.Arg229Gly)	37	ACADVL	Uncertain significance	786204536	RCV001870855;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125333	7125333	7125333	-
NM_000018.4(ACADVL):c.688dup (p.Thr230fs)	37	ACADVL	Likely pathogenic	2071255080	RCV001047888;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125334	7125335	17:g.7125334_7125335insA	-
NM_000018.4(ACADVL):c.686G>A (p.Arg229Gln)	37	ACADVL	Uncertain significance	777955007	RCV001200855\|RCV002365899;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MeSH:D030342,MedGen:C0950123	17	7125334	7125334	17:g.7125334G>A	-
NM_000018.4(ACADVL):c.689C>T (p.Thr230Ile)	37	ACADVL	Uncertain significance	1241935771	RCV000792876;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125337	7125337	17:g.7125337C>T	-
NM_000018.4(ACADVL):c.690C>T (p.Thr230=)	37	ACADVL	Likely benign	749436149	RCV001465414;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125338	7125338	17:g.7125338C>T	-
NM_000018.4(ACADVL):c.693T>A (p.Ser231=)	37	ACADVL	Benign/Likely benign	77763289	RCV000123478\|RCV000341852\|RCV000755777\|RCV002362754;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	17	7125341	7125341	17:g.7125341T>A	ClinGen:CA289257	CN169374 not specified;
NM_000018.4(ACADVL):c.693T>C (p.Ser231=)	37	ACADVL	Likely benign	77763289	RCV000252213\|RCV002057275;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125341	7125341	17:g.7125341T>C	ClinGen:CA8337814	CN169374 not specified;
NM_000018.4(ACADVL):c.694G>A (p.Ala232Thr)	37	ACADVL	Conflicting interpretations of pathogenicity	746944448	RCV001756619\|RCV001861051;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125342	7125342	7125342	-
NM_000018.4(ACADVL):c.697G>A (p.Val233Met)	37	ACADVL	Uncertain significance	-1	RCV003076301;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125345	7125345	NC_000017.10:g.7125345G>A	-
NM_000018.4(ACADVL):c.699G>A (p.Val233=)	37	ACADVL	Likely benign	1244500033	RCV001454633;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125347	7125347	7125347	-
NM_000018.4(ACADVL):c.702C>G (p.Pro234=)	37	ACADVL	Likely benign	2142976946	RCV002112507;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125350	7125350	7125350	-
NM_000018.4(ACADVL):c.705C>A (p.Ser235Arg)	37	ACADVL	Uncertain significance	2071256120	RCV001200746;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125353	7125353	17:g.7125353C>A	-
NM_000018.4(ACADVL):c.707C>T (p.Pro236Leu)	37	ACADVL	Uncertain significance	1336637427	RCV001279286;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125355	7125355	17:g.7125355C>T	-
NM_000018.4(ACADVL):c.708_709del (p.Cys237fs)	37	ACADVL	Pathogenic/Likely pathogenic	1555528304	RCV000586725;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125356	7125357	NC_000017.10:g.7125356_7125357del	ClinGen:CA658683975	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.708C>T (p.Pro236=)	37	ACADVL	Likely benign	2142976976	RCV002147826;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125356	7125356	7125356	-
NM_000018.4(ACADVL):c.709T>C (p.Cys237Arg)	37	ACADVL	Conflicting interpretations of pathogenicity	1189763523	RCV001193468\|RCV001828597;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125357	7125357	17:g.7125357T>C	-
NM_000018.4(ACADVL):c.711_712del (p.Cys237fs)	37	ACADVL	Pathogenic	2071256607	RCV001200780;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125357	7125358	17:g.7125357_7125358del	-
NM_000018.4(ACADVL):c.711T>C (p.Cys237=)	37	ACADVL	Likely benign	-1	RCV003047286;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125359	7125359		-
NM_000018.4(ACADVL):c.715A>G (p.Lys239Glu)	37	ACADVL	Uncertain significance	776331587	RCV001053842\|RCV002365702;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MeSH:D030342,MedGen:C0950123	17	7125363	7125363	17:g.7125363A>G	-
NM_000018.4(ACADVL):c.720C>T (p.Tyr240=)	37	ACADVL	Likely benign	-1	RCV002995323;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125368	7125368		-
NM_000018.4(ACADVL):c.722A>G (p.Tyr241Cys)	37	ACADVL	Conflicting interpretations of pathogenicity	575789958	RCV001069204;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125370	7125370	17:g.7125370A>G	-
NM_000018.4(ACADVL):c.725C>T (p.Thr242Ile)	37	ACADVL	Uncertain significance	769631635	RCV001260359\|RCV001830062\|RCV002379962;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MeSH:D030342,MedGen:C0950123	17	7125373	7125373	17:g.7125373C>T	-
NM_000018.4(ACADVL):c.726C>T (p.Thr242=)	37	ACADVL	Likely benign	972997485	RCV002178100;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125374	7125374	7125374	-
NM_000018.4(ACADVL):c.728T>A (p.Leu243His)	37	ACADVL	Uncertain significance	772999007	RCV001200856\|RCV003396815;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|	17	7125376	7125376	17:g.7125376T>A	-
NM_000018.4(ACADVL):c.732T>C (p.Asn244=)	37	ACADVL	Likely benign	1567564195	RCV002114900;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125380	7125380	7125380	-
NM_000018.4(ACADVL):c.733G>T (p.Gly245Ter)	37	ACADVL	Likely pathogenic	-1	RCV003465088;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125381	7125381		-
NM_000018.4(ACADVL):c.734G>A (p.Gly245Glu)	37	ACADVL	Uncertain significance	762631117	RCV000823632;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125382	7125382	17:g.7125382G>A	-
NM_000018.4(ACADVL):c.736A>G (p.Ser246Gly)	37	ACADVL	Uncertain significance	1555528320	RCV000559821\|RCV001192882;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN169374	17	7125384	7125384	17:g.7125384A>G	ClinGen:CA397723567	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.739A>C (p.Lys247Gln)	37	ACADVL	Uncertain significance	387906253	RCV001250508;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125387	7125387	17:g.7125387A>C	OMIM:609575.0011,ClinVar:441528	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.739A>G (p.Lys247Glu)	37	ACADVL	Uncertain significance	387906253	RCV000668561;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125387	7125387	17:g.7125387A>G	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.740A>G (p.Lys247Arg)	37	ACADVL	Uncertain significance	2142977168	RCV001965524;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125388	7125388	7125388	-
NM_000018.4(ACADVL):c.740A>C (p.Lys247Thr)	37	ACADVL	Likely pathogenic	-1	RCV003041270;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125388	7125388	NC_000017.10:g.7125388A>C	-
NM_000018.4(ACADVL):c.741G>A (p.Lys247=)	37	ACADVL	Likely benign	-1	RCV002690439;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125389	7125389		-
NM_000018.4(ACADVL):c.746G>A (p.Trp249Ter)	37	ACADVL	Pathogenic	2071258420	RCV001200799;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125394	7125394	17:g.7125394G>A	-
NM_000018.4(ACADVL):c.747G>C (p.Trp249Cys)	37	ACADVL	Uncertain significance	141167669	RCV000506135;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125395	7125395	17:g.7125395G>C	ClinGen:CA8337823	CN169374 not specified;
NM_000018.4(ACADVL):c.747G>A (p.Trp249Ter)	37	ACADVL	Pathogenic	141167669	RCV001946539;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125395	7125395	7125395	-
NM_000018.4(ACADVL):c.751A>G (p.Ser251Gly)	37	ACADVL	Conflicting interpretations of pathogenicity	749159573	RCV000373221;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125399	7125399	NC_000017.10:g.7125399A>G	ClinGen:CA10640460	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.752+5C>T	37	ACADVL	Uncertain significance	768041919	RCV000794972;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125405	7125405	17:g.7125405C>T	-
NM_000018.4(ACADVL):c.752+6C>G	37	ACADVL	Uncertain significance	-1	RCV003063118;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125406	7125406	NC_000017.10:g.7125406C>G	-
NM_000018.4(ACADVL):c.752+6C>T	37	ACADVL	Uncertain significance	-1	RCV002880485;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125406	7125406	NC_000017.10:g.7125406C>T	-
NM_000018.4(ACADVL):c.752+7T>C	37	ACADVL	Likely benign	753057653	RCV001492845;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125407	7125407	7125407	-
NM_000018.4(ACADVL):c.752+9C>T	37	ACADVL	Likely benign	-1	RCV003039328;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125409	7125409	NC_000017.10:g.7125409C>T	-
NM_000018.4(ACADVL):c.752+10C>T	37	ACADVL	Likely benign	200176128	RCV002126616;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125410	7125410	7125410	-
NM_000018.4(ACADVL):c.752+18T>A	37	ACADVL	Likely benign	928947852	RCV002147427;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125418	7125418	7125418	-
NM_000018.4(ACADVL):c.752+24C>T	37	ACADVL	Likely benign	201030339	RCV000671689;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125424	7125424	17:g.7125424C>T	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.753-36C>T	37	ACADVL	Uncertain significance	-1	RCV003139567;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125460	7125460	NC_000017.10:g.7125460C>T	-
NM_000018.4(ACADVL):c.753-27C>T	37	ACADVL	Conflicting interpretations of pathogenicity	374911841	RCV000550616\|RCV000603826\|RCV003311848;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN169374\|MedGen:C3661900	17	7125469	7125469	17:g.7125469C>T	ClinGen:CA8337840	CN169374 not specified;
NM_000018.4(ACADVL):c.753-15C>T	37	ACADVL	Likely benign	-1	RCV002584011;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125481	7125481	NC_000017.10:g.7125481C>T	-
NM_000018.4(ACADVL):c.753-9C>T	37	ACADVL	Conflicting interpretations of pathogenicity	1262931604	RCV001200747;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125487	7125487	17:g.7125487C>T	-
NM_000018.4(ACADVL):c.753-9C>G	37	ACADVL	Likely benign	1262931604	RCV002191703;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125487	7125487	7125487	-
NM_000018.4(ACADVL):c.753-9C>A	37	ACADVL	Likely benign	-1	RCV003100307;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125487	7125487	NC_000017.10:g.7125487C>A	-
NM_000018.4(ACADVL):c.753-8T>C	37	ACADVL	Likely benign	-1	RCV003066333;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125488	7125488	NC_000017.10:g.7125488T>C	-
NM_000018.4(ACADVL):c.753-5del	37	ACADVL	Uncertain significance	2071263119	RCV001343788;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125490	7125490	7125489	-
NM_000018.4(ACADVL):c.753-6C>T	37	ACADVL	Uncertain significance	-1	RCV002839379;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125490	7125490	NC_000017.10:g.7125490C>T	-
NM_000018.4(ACADVL):c.753-2A>C	37	ACADVL	Likely pathogenic	398123092	RCV000077923\|RCV000180449;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125494	7125494	17:g.7125494A>C	ClinGen:CA220220	CN517202 not provided;
NM_000018.4(ACADVL):c.753-2A>G	37	ACADVL	Likely pathogenic	398123092	RCV001200800;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125494	7125494	17:g.7125494A>G	-
NM_000018.4(ACADVL):c.753-1G>A	37	ACADVL	Pathogenic	-1	RCV003046297;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125495	7125495	NC_000017.10:g.7125495G>A	-
NM_000018.4(ACADVL):c.755A>G (p.Asn252Ser)	37	ACADVL	Uncertain significance	2071263384	RCV001200748;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125498	7125498	17:g.7125498A>G	-
NM_000018.4(ACADVL):c.756T>C (p.Asn252=)	37	ACADVL	Likely benign	143233413	RCV000244168\|RCV000652048;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125499	7125499	17:g.7125499T>C	ClinGen:CA8337846	CN169374 not specified;
NM_000018.4(ACADVL):c.757G>A (p.Gly253Arg)	37	ACADVL	Uncertain significance	1555528345	RCV000652028;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125500	7125500	17:g.7125500G>A	ClinGen:CA397723626	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.759_761del (p.Gly254del)	37	ACADVL	Uncertain significance	1555528346	RCV000673326;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125500	7125502	17:g.7125500_7125502del	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.758G>A (p.Gly253Glu)	37	ACADVL	Uncertain significance	2071263753	RCV001200690;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125501	7125501	17:g.7125501G>A	-
NM_000018.4(ACADVL):c.759G>A (p.Gly253=)	37	ACADVL	Likely benign	148073142	RCV000432693\|RCV000874511;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125502	7125502	17:g.7125502G>A	ClinGen:CA8337847	CN169374 not specified;
NM_000018.4(ACADVL):c.760G>A (p.Gly254Ser)	37	ACADVL	Conflicting interpretations of pathogenicity	765423779	RCV001200691\|RCV003230646;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN169374	17	7125503	7125503	17:g.7125503G>A	-
NM_000018.4(ACADVL):c.765A>G (p.Leu255=)	37	ACADVL	Likely benign	-1	RCV003073425;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125508	7125508		-
NM_000018.4(ACADVL):c.766G>C (p.Ala256Pro)	37	ACADVL	Uncertain significance	2071264273	RCV001200692;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125509	7125509	17:g.7125509G>C	-
NM_000018.4(ACADVL):c.769G>A (p.Asp257Asn)	37	ACADVL	Uncertain significance	-1	RCV003099070;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125512	7125512	NC_000017.10:g.7125512G>A	-
NM_000018.4(ACADVL):c.770del (p.Asp257fs)	37	ACADVL	Likely pathogenic	2071264706	RCV001204462;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125513	7125513	17:g.7125513_7125513del	-
NM_000018.4(ACADVL):c.770A>T (p.Asp257Val)	37	ACADVL	Uncertain significance	2071264623	RCV001287279;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125513	7125513	7125513	-
NM_000018.4(ACADVL):c.770A>G (p.Asp257Gly)	37	ACADVL	Uncertain significance	-1	RCV003050017;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125513	7125513	NC_000017.10:g.7125513A>G	-
NM_000018.4(ACADVL):c.773T>C (p.Ile258Thr)	37	ACADVL	Pathogenic/Likely pathogenic	1197133430	RCV001059797;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125516	7125516	17:g.7125516T>C	-
NM_000018.4(ACADVL):c.773T>G (p.Ile258Ser)	37	ACADVL	Uncertain significance	1197133430	RCV001200693;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125516	7125516	17:g.7125516T>G	-
NM_000018.4(ACADVL):c.777C>T (p.Phe259=)	37	ACADVL	Likely benign	-1	RCV002871270;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125520	7125520		-
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met)	37	ACADVL	Pathogenic/Likely pathogenic	113994168	RCV000020080\|RCV000429481\|RCV001807005;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900\|Human Phenotype Ontology:HP:0008167,MedGen:C3279397	17	7125522	7125522	17:g.7125522C>T	ClinGen:CA341526,UniProtKB:P49748#VAR_000339	CN517202 not provided;
NM_000018.4(ACADVL):c.780G>A (p.Thr260=)	37	ACADVL	Conflicting interpretations of pathogenicity	140871321	RCV000877108\|RCV001644854\|RCV003169201;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	17	7125523	7125523	17:g.7125523G>A	-
NM_000018.4(ACADVL):c.780G>C (p.Thr260=)	37	ACADVL	Likely benign	140871321	RCV001442314;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125523	7125523	7125523	-
NM_000018.4(ACADVL):c.780G>T (p.Thr260=)	37	ACADVL	Likely benign	140871321	RCV002157999;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125523	7125523	7125523	-
NM_000018.4(ACADVL):c.782T>C (p.Val261Ala)	37	ACADVL	Uncertain significance	756069599	RCV001001008;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125525	7125525	17:g.7125525T>C	-
NM_000018.4(ACADVL):c.783C>T (p.Val261=)	37	ACADVL	Likely benign	1309345559	RCV001483915;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125526	7125526	7125526	-
NM_000018.4(ACADVL):c.785T>C (p.Phe262Ser)	37	ACADVL	Uncertain significance	1597528061	RCV001000782;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125528	7125528	17:g.7125528T>C	-
NM_000018.4(ACADVL):c.786T>G (p.Phe262Leu)	37	ACADVL	Uncertain significance	777747704	RCV001998185;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125529	7125529	7125529	-
NM_000018.4(ACADVL):c.790A>G (p.Lys264Glu)	37	ACADVL	Likely pathogenic	1231343685	RCV001210822;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125533	7125533	17:g.7125533A>G	-
NM_000018.4(ACADVL):c.797_798del (p.Pro266fs)	37	ACADVL	Likely pathogenic	2071266269	RCV001200801;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125540	7125541	17:g.7125540_7125541del	-
NM_000018.4(ACADVL):c.799_802del (p.Val267fs)	37	ACADVL	Pathogenic	761204548	RCV000410749;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125541	7125544	NC_000017.10:g.7125542_7125545del	ClinGen:CA8337855	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.800T>G (p.Val267Gly)	37	ACADVL	Pathogenic	-1	RCV002856887;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125543	7125543	NC_000017.10:g.7125543T>G	-
NM_000018.4(ACADVL):c.803C>T (p.Thr268Ile)	37	ACADVL	Uncertain significance	-1	RCV002577115;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125546	7125546	NC_000017.10:g.7125546C>T	-
NM_000018.4(ACADVL):c.809del (p.Pro270fs)	37	ACADVL	Likely pathogenic	1567564499	RCV000693564;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125551	7125551	17:g.7125551_7125551del	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.808C>T (p.Pro270Ser)	37	ACADVL	Uncertain significance	2071266963	RCV001200694;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125551	7125551	17:g.7125551C>T	-
NM_000018.4(ACADVL):c.809C>G (p.Pro270Arg)	37	ACADVL	Uncertain significance	-1	RCV002843438;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125552	7125552	NC_000017.10:g.7125552C>G	-
NM_000018.4(ACADVL):c.811G>A (p.Ala271Thr)	37	ACADVL	Uncertain significance	2142977919	RCV001973830\|RCV003326603;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7125554	7125554	7125554	-
NM_000018.4(ACADVL):c.816A>G (p.Thr272=)	37	ACADVL	Likely benign	-1	RCV002576474;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125559	7125559		-
NM_000018.4(ACADVL):c.818G>C (p.Gly273Ala)	37	ACADVL	Uncertain significance	150149784	RCV000185714\|RCV001086185\|RCV003398920;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN169374	17	7125561	7125561	17:g.7125561G>C	ClinGen:CA312255	CN169374 not specified;
NM_000018.4(ACADVL):c.821C>T (p.Ala274Val)	37	ACADVL	Uncertain significance	-1	RCV003072485;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125564	7125564	NC_000017.10:g.7125564C>T	-
NM_000018.4(ACADVL):c.822C>T (p.Ala274=)	37	ACADVL	Likely benign	372038260	RCV000249127\|RCV001477684;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125565	7125565	17:g.7125565C>T	ClinGen:CA8337859	CN169374 not specified;
NM_000018.4(ACADVL):c.826_849del (p.Lys276_Val283del)	37	ACADVL	Uncertain significance	1555528367	RCV000652037;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125566	7125589	NC_000017.10:g.7125569_7125592del	ClinGen:CA658798684	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.823G>A (p.Val275Met)	37	ACADVL	Uncertain significance	761199646	RCV002004888;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125566	7125566	7125566	-
NM_000018.4(ACADVL):c.826A>G (p.Lys276Glu)	37	ACADVL	Uncertain significance	-1	RCV002843627;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125569	7125569	NC_000017.10:g.7125569A>G	-
NM_000018.4(ACADVL):c.829_831del (p.Glu277del)	37	ACADVL	Conflicting interpretations of pathogenicity	796051913	RCV000185735\|RCV000527513\|RCV002519571\|RCV003398921;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MeSH:D030342,MedGen:C0950123\|	17	7125570	7125572	17:g.7125570_7125572del	ClinGen:CA312283	CN517202 not provided;
NM_000018.4(ACADVL):c.828G>A (p.Lys276=)	37	ACADVL	Likely benign	986417874	RCV001494029;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125571	7125571	7125571	-
NM_000018.4(ACADVL):c.829G>A (p.Glu277Lys)	37	ACADVL	Uncertain significance	1208459885	RCV002027618;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125572	7125572	7125572	-
NM_000018.4(ACADVL):c.830AGA[1] (p.Lys278del)	37	ACADVL	Conflicting interpretations of pathogenicity	769280599	RCV000271659\|RCV000723470\|RCV002519078\|RCV003417879;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|	17	7125573	7125575	17:g.7125573_7125575del	ClinGen:CA8337864	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.833A>T (p.Lys278Met)	37	ACADVL	Uncertain significance	-1	RCV002629263;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125576	7125576	NC_000017.10:g.7125576A>T	-
NM_000018.4(ACADVL):c.834G>A (p.Lys278=)	37	ACADVL	Likely benign	-1	RCV002824428;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125577	7125577		-
NM_000018.4(ACADVL):c.839C>T (p.Thr280Ile)	37	ACADVL	Likely pathogenic	2142978093	RCV002045649;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125582	7125582	7125582	-
NM_000018.4(ACADVL):c.841G>C (p.Ala281Pro)	37	ACADVL	Uncertain significance	2142978096	RCV001369986;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125584	7125584	7125584	-
NM_000018.4(ACADVL):c.842C>A (p.Ala281Asp)	37	ACADVL	Likely pathogenic	-1	RCV003460225;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125585	7125585		-
NM_000018.4(ACADVL):c.845T>C (p.Phe282Ser)	37	ACADVL	Uncertain significance	2071268683	RCV001318717;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125588	7125588	7125588	-
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala)	37	ACADVL	Pathogenic	113994167	RCV000020081\|RCV000077925\|RCV001807006\|RCV002513135;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900\|Human Phenotype Ontology:HP:0008167,MedGen:C3279397\|MeSH:D030342,MedGen:C0950123	17	7125591	7125591	17:g.7125591T>C	ClinGen:CA285294,UniProtKB:P49748#VAR_000342	CN517202 not provided;
NM_000018.4(ACADVL):c.849G>A (p.Val283=)	37	ACADVL	Likely benign	-1	RCV003022162;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125592	7125592		-
NM_000018.4(ACADVL):c.850_851insC (p.Val284fs)	37	ACADVL	Likely pathogenic	-1	RCV002309489;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125593	7125594	7125593	-
NM_000018.4(ACADVL):c.852G>A (p.Val284=)	37	ACADVL	Likely pathogenic	-1	RCV003033174;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125595	7125595		-
NM_000018.4(ACADVL):c.856_857del (p.Arg286fs)	37	ACADVL	Likely pathogenic	2071269046	RCV001200802;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125596	7125597	17:g.7125596_7125597del	-
NM_000018.4(ACADVL):c.853G>C (p.Glu285Gln)	37	ACADVL	Conflicting interpretations of pathogenicity	202216257	RCV001994847\|RCV003331248;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN169374	17	7125596	7125596	7125596	-
NM_000018.4(ACADVL):c.854A>T (p.Glu285Val)	37	ACADVL	Likely pathogenic	-1	RCV002801691;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125597	7125597	NC_000017.10:g.7125597A>T	-
NM_000018.4(ACADVL):c.855G>A (p.Glu285=)	37	ACADVL	Likely benign	201509063	RCV000841936\|RCV001465726;	N	MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125598	7125598	17:g.7125598G>A	-
NM_000018.4(ACADVL):c.855G>C (p.Glu285Asp)	37	ACADVL	Conflicting interpretations of pathogenicity	201509063	RCV001200695\|RCV001552986;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN517202	17	7125598	7125598	17:g.7125598G>C	-
NM_000018.4(ACADVL):c.856A>G (p.Arg286Gly)	37	ACADVL	Likely pathogenic	751556332	RCV002041173;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125599	7125599	7125599	-
NM_000018.4(ACADVL):c.858G>A (p.Arg286=)	37	ACADVL	Likely benign	531514327	RCV001279287;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125601	7125601	17:g.7125601G>A	-
NM_000018.4(ACADVL):c.861C>T (p.Gly287=)	37	ACADVL	Likely benign	2142978212	RCV001439063;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125604	7125604	7125604	-
NM_000018.4(ACADVL):c.861C>G (p.Gly287=)	37	ACADVL	Likely benign	2142978212	RCV001925913;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125604	7125604	7125604	-
NM_000018.4(ACADVL):c.862T>A (p.Phe288Ile)	37	ACADVL	Uncertain significance	1209359519	RCV001961123;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125605	7125605	7125605	-
NM_000018.4(ACADVL):c.869dup (p.Ile291fs)	37	ACADVL	Likely pathogenic	886044671	RCV000404620\|RCV001200803\|RCV003417926;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|	17	7125607	7125608	17:g.7125607_7125608insG	ClinGen:CA10607042	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.864C>T (p.Phe288=)	37	ACADVL	Likely benign	753748672	RCV000828129\|RCV001001387;	N	MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125607	7125607	NC_000017.10:g.7125607C>T	ClinGen:CA8337872	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.864del (p.Phe288fs)	37	ACADVL	Likely pathogenic	1555528386	RCV000625573;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125607	7125607	17:g.7125607_7125607del	ClinGen:CA658798685	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg)	37	ACADVL	Likely pathogenic	200788251	RCV000408960\|RCV000489455;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7125608	7125608	NC_000017.10:g.7125608G>A	ClinGen:CA8337873	CN517202 not provided;
NM_000018.4(ACADVL):c.865G>C (p.Gly289Arg)	37	ACADVL	Uncertain significance	200788251	RCV000989693;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125608	7125608	17:g.7125608G>C	-
NM_000018.4(ACADVL):c.869del (p.Gly290fs)	37	ACADVL	Pathogenic/Likely pathogenic	886044671	RCV001814268\|RCV001873444;	N	Human Phenotype Ontology:HP:0003011,Human Phenotype Ontology:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C4021745\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125608	7125608	17:g.7125608_7125608del	ClinVar:867229,ClinVar:867230
NM_000018.4(ACADVL):c.866G>A (p.Gly289Glu)	37	ACADVL	Conflicting interpretations of pathogenicity	778514103	RCV000180450\|RCV001200696;	N	MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125609	7125609	17:g.7125609G>A	ClinGen:CA247926	CN169374 not specified;
NM_000018.4(ACADVL):c.867G>T (p.Gly289=)	37	ACADVL	Conflicting interpretations of pathogenicity	745557512	RCV001123900;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125610	7125610	17:g.7125610G>T	-
NM_000018.4(ACADVL):c.867G>A (p.Gly289=)	37	ACADVL	Likely benign	745557512	RCV001457018;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125610	7125610	7125610	-
NM_000018.4(ACADVL):c.869G>A (p.Gly290Asp)	37	ACADVL	Conflicting interpretations of pathogenicity	-1	RCV003139565;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125612	7125612	NC_000017.10:g.7125612G>A	-
NM_000018.4(ACADVL):c.873_874del (p.Thr292fs)	37	ACADVL	Likely pathogenic	-1	RCV002306666;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125616	7125617	7125615	-
NM_000018.4(ACADVL):c.877C>T (p.His293Tyr)	37	ACADVL	Uncertain significance	-1	RCV003455821;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125620	7125620		-
NM_000018.4(ACADVL):c.878+1G>C	37	ACADVL	Pathogenic	757946752	RCV001211019;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125622	7125622	17:g.7125622G>C	-
NM_000018.4(ACADVL):c.878+8A>C	37	ACADVL	Likely benign	910644475	RCV001457979;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125629	7125629	7125629	-
NM_000018.4(ACADVL):c.878+19G>C	37	ACADVL	Likely benign	1405611766	RCV002102614;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125640	7125640	7125640	-
NM_000018.4(ACADVL):c.878+29G>C	37	ACADVL	Uncertain significance	201502622	RCV001200770;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125650	7125650	17:g.7125650G>C	-
NM_000018.4(ACADVL):c.878+33T>G	37	ACADVL	Uncertain significance	145589195	RCV001200769;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125654	7125654	17:g.7125654T>G	-
NM_000018.4(ACADVL):c.878+34G>A	37	ACADVL	Likely benign	-1	RCV002605449;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125655	7125655	NC_000017.10:g.7125655G>A	-
NM_000018.4(ACADVL):c.879-88_896del	37	ACADVL	Likely pathogenic	2142979402	RCV001378846;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125898	7126003	7125897	-
NM_000018.4(ACADVL):c.879-50G>T	37	ACADVL	Benign	11870841	RCV001200795\|RCV001683751;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7125936	7125936	17:g.7125936G>T	-
NM_000018.4(ACADVL):c.879-19C>T	37	ACADVL	Likely benign	754490495	RCV002178838;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125967	7125967	7125967	-
NM_000018.4(ACADVL):c.879-18C>T	37	ACADVL	Likely benign	-1	RCV003049917;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125968	7125968	NC_000017.10:g.7125968C>T	-
NM_000018.4(ACADVL):c.879-16C>A	37	ACADVL	Conflicting interpretations of pathogenicity	780626099	RCV001200771\|RCV001760160;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN517202	17	7125970	7125970	17:g.7125970C>A	-
NM_000018.4(ACADVL):c.879-14C>G	37	ACADVL	Uncertain significance	-1	RCV003036407;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125972	7125972	NC_000017.10:g.7125972C>G	-
NM_000018.4(ACADVL):c.879-13T>C	37	ACADVL	Likely benign	-1	RCV003052643;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125973	7125973	NC_000017.10:g.7125973T>C	-
NM_000018.4(ACADVL):c.879-13T>A	37	ACADVL	Uncertain significance	-1	RCV002885856;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125973	7125973	NC_000017.10:g.7125973T>A	-
NM_000018.4(ACADVL):c.879-11C>G	37	ACADVL	Uncertain significance	1395957890	RCV001200697;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125975	7125975	17:g.7125975C>G	-
NM_000018.4(ACADVL):c.879-10C>T	37	ACADVL	Likely benign	-1	RCV002833667;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125976	7125976	NC_000017.10:g.7125976C>T	-
NM_000018.4(ACADVL):c.879-8T>A	37	ACADVL	Likely pathogenic	2071286355	RCV001200781;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125978	7125978	17:g.7125978T>A	-
NM_000018.4(ACADVL):c.879-7G>C	37	ACADVL	Likely benign	2142979711	RCV001477762;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125979	7125979	7125979	-
NM_000018.4(ACADVL):c.879-2_879-1del	37	ACADVL	Likely pathogenic	-1	RCV003474402;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125984	7125985		-
NM_000018.4(ACADVL):c.879-1G>A	37	ACADVL	Likely pathogenic	2071286572	RCV001209701;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125985	7125985	17:g.7125985G>A	-
NM_000018.4(ACADVL):c.881_884dup (p.Pro296fs)	37	ACADVL	Likely pathogenic	766192888	RCV000409715\|RCV001570923;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7125987	7125988	17:g.7125987_7125988insGGCC	ClinGen:CA8337899	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu)	37	ACADVL	Uncertain significance	200573371	RCV000185715\|RCV000530883\|RCV002519570;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MeSH:D030342,MedGen:C0950123	17	7125988	7125988	17:g.7125988G>A	ClinGen:CA312257,UniProtKB:P49748#VAR_000344	CN517202 not provided;
NM_000018.4(ACADVL):c.882G>A (p.Gly294=)	37	ACADVL	Likely benign	1314252710	RCV002216331;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125989	7125989	7125989	-
NM_000018.4(ACADVL):c.883C>G (p.Pro295Ala)	37	ACADVL	Likely pathogenic	1327386820	RCV001341060;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125990	7125990	7125990	-
NM_000018.4(ACADVL):c.883C>T (p.Pro295Ser)	37	ACADVL	Uncertain significance	-1	RCV002373794\|RCV003103534;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125990	7125990	7125990	-
NM_000018.4(ACADVL):c.885C>A (p.Pro295=)	37	ACADVL	Likely benign	1567565243	RCV002212506;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125992	7125992	7125992	-
NM_000018.4(ACADVL):c.886C>T (p.Pro296Ser)	37	ACADVL	Uncertain significance	-1	RCV003086152;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125993	7125993	NC_000017.10:g.7125993C>T	-
NM_000018.4(ACADVL):c.887_888del (p.Pro296fs)	37	ACADVL	Likely pathogenic	753108198	RCV000169392\|RCV000185736;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7125994	7125995	NC_000017.10:g.7125994_7125995del	ClinGen:CA274249	CN517202 not provided;
NM_000018.4(ACADVL):c.887C>T (p.Pro296Leu)	37	ACADVL	Uncertain significance	-1	RCV002839557;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125994	7125994	NC_000017.10:g.7125994C>T	-
NM_000018.4(ACADVL):c.889_891del (p.Glu297del)	37	ACADVL	Conflicting interpretations of pathogenicity	796051914	RCV000185737\|RCV001061118;	N	MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125996	7125998	NC_000017.10:g.7125996_7125998del	ClinGen:CA312285
NM_000018.4(ACADVL):c.889G>A (p.Glu297Lys)	37	ACADVL	Uncertain significance	2071287310	RCV001200698;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125996	7125996	17:g.7125996G>A	-
NM_000018.4(ACADVL):c.890AGA[2] (p.Lys299del)	37	ACADVL	Pathogenic/Likely pathogenic	387906252	RCV000001694\|RCV000077926;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7125997	7125999	17:g.7125997_7125999del	ClinGen:CA220223,OMIM:609575.0007	CN517202 not provided;
NM_000018.4(ACADVL):c.891del (p.Lys298fs)	37	ACADVL	Likely pathogenic	1057517180	RCV000412387;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125998	7125998	17:g.7125998_7125998del	ClinGen:CA16041863	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.891G>C (p.Glu297Asp)	37	ACADVL	Uncertain significance	2071287588	RCV001886955;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125998	7125998	7125998	-
NM_000018.4(ACADVL):c.891G>A (p.Glu297=)	37	ACADVL	Likely benign	-1	RCV003059684;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7125998	7125998		-
NM_000018.4(ACADVL):c.894G>A (p.Lys298=)	37	ACADVL	Likely benign	749598830	RCV002200294;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126001	7126001	7126001	-
NM_000018.4(ACADVL):c.895A>G (p.Lys299Glu)	37	ACADVL	Uncertain significance	2142979869	RCV001928752;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126002	7126002	7126002	-
NM_000018.4(ACADVL):c.896A>G (p.Lys299Arg)	37	ACADVL	Uncertain significance	771247610	RCV000815341;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126003	7126003	17:g.7126003A>G	-
NM_000018.4(ACADVL):c.896A>T (p.Lys299Met)	37	ACADVL	Likely pathogenic	771247610	RCV001200782;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126003	7126003	17:g.7126003A>T	-
NM_000018.4(ACADVL):c.897G>C (p.Lys299Asn)	37	ACADVL	Uncertain significance	-1	RCV003139568;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126004	7126004	NC_000017.10:g.7126004G>C	-
NM_000018.4(ACADVL):c.898A>G (p.Met300Val)	37	ACADVL	Uncertain significance	1026112888	RCV000665146;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126005	7126005	17:g.7126005A>G	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.899T>G (p.Met300Arg)	37	ACADVL	Uncertain significance	142765230	RCV001200699;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126006	7126006	17:g.7126006T>G	-
NM_000018.4(ACADVL):c.900G>A (p.Met300Ile)	37	ACADVL	Likely pathogenic	2071288305	RCV001075884;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126007	7126007	17:g.7126007G>A	-
NM_000018.4(ACADVL):c.901G>A (p.Gly301Ser)	37	ACADVL	Uncertain significance	199738655	RCV001200857;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126008	7126008	17:g.7126008G>A	-
NM_000018.4(ACADVL):c.902G>A (p.Gly301Asp)	37	ACADVL	Likely pathogenic	-1	RCV002974977;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126009	7126009	NC_000017.10:g.7126009G>A	-
NM_000018.4(ACADVL):c.904A>T (p.Ile302Phe)	37	ACADVL	Uncertain significance	2071288448	RCV001200700;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126011	7126011	17:g.7126011A>T	-
NM_000018.4(ACADVL):c.906C>T (p.Ile302=)	37	ACADVL	Likely benign	-1	RCV003108451;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126013	7126013		-
NM_000018.4(ACADVL):c.907A>G (p.Lys303Glu)	37	ACADVL	Uncertain significance	369149696	RCV000506644\|RCV000689725\|RCV001266827;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MeSH:D030342,MedGen:C0950123	17	7126014	7126014	17:g.7126014A>G	ClinGen:CA8337905	CN169374 not specified;
NM_000018.4(ACADVL):c.909G>A (p.Lys303=)	37	ACADVL	Likely benign	2142979945	RCV001443291;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126016	7126016	7126016	-
NM_000018.4(ACADVL):c.910G>A (p.Ala304Thr)	37	ACADVL	Uncertain significance	-1	RCV002286688;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126017	7126017	7126017	-
NM_000018.4(ACADVL):c.911C>T (p.Ala304Val)	37	ACADVL	Uncertain significance	1473375424	RCV001075885\|RCV001814267;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|Human Phenotype Ontology:HP:0003011,Human Phenotype Ontology:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C4021745	17	7126018	7126018	17:g.7126018C>T	-
NM_000018.4(ACADVL):c.916_917del (p.Asn306fs)	37	ACADVL	Likely pathogenic	-1	RCV003474406;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126022	7126023		-
NM_000018.4(ACADVL):c.918C>A (p.Asn306Lys)	37	ACADVL	Uncertain significance	2071288883	RCV001063279;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126025	7126025	17:g.7126025C>A	-
NM_000018.4(ACADVL):c.920C>G (p.Thr307Arg)	37	ACADVL	Uncertain significance	866743364	RCV001200701;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126027	7126027	17:g.7126027C>G	-
NM_000018.4(ACADVL):c.926_927del (p.Glu309fs)	37	ACADVL	Likely pathogenic	2071289046	RCV001200804;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126031	7126032	17:g.7126031_7126032del	-
NM_000018.4(ACADVL):c.932del (p.Phe311fs)	37	ACADVL	Likely pathogenic	764488310	RCV000670204;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126038	7126038	17:g.7126038_7126038del	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.938_940del (p.Asp313del)	37	ACADVL	Uncertain significance	2142980046	RCV002044985;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126043	7126045	7126042	-
NM_000018.4(ACADVL):c.937G>C (p.Asp313His)	37	ACADVL	Uncertain significance	-1	RCV003006520;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126044	7126044	NC_000017.10:g.7126044G>C	-
NM_000018.4(ACADVL):c.940G>A (p.Gly314Arg)	37	ACADVL	Uncertain significance	775669454	RCV001200858;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126047	7126047	17:g.7126047G>A	-
NM_000018.4(ACADVL):c.942A>C (p.Gly314=)	37	ACADVL	Likely benign	2142980069	RCV001434241;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126049	7126049	7126049	-
NM_000018.4(ACADVL):c.944T>G (p.Val315Gly)	37	ACADVL	Uncertain significance	1555528469	RCV000674305;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126051	7126051	17:g.7126051T>G	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.945A>G (p.Val315=)	37	ACADVL	Likely benign	761849960	RCV000975597;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126052	7126052	17:g.7126052A>G	-
NM_000018.4(ACADVL):c.946C>T (p.Arg316Trp)	37	ACADVL	Uncertain significance	-1	RCV002790402;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126053	7126053	NC_000017.10:g.7126053C>T	-
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln)	37	ACADVL	Conflicting interpretations of pathogenicity	147366714	RCV000555764\|RCV000755205;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7126054	7126054	NC_000017.10:g.7126054G>A	ClinGen:CA312260	CN169374 not specified;
NM_000018.4(ACADVL):c.949G>A (p.Val317Met)	37	ACADVL	Uncertain significance	1567565417	RCV000755776;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126056	7126056	NC_000017.10:g.7126056G>A	-
NM_000018.4(ACADVL):c.950T>C (p.Val317Ala)	37	ACADVL	Uncertain significance	398123095	RCV000706679\|RCV000723572\|RCV003226191;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900\|MedGen:CN169374	17	7126057	7126057	17:g.7126057T>C	ClinGen:CA220225,UniProtKB:P49748#VAR_000347	CN169374 not specified;
NM_000018.4(ACADVL):c.951G>T (p.Val317=)	37	ACADVL	Likely benign	1183459867	RCV000973854;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126058	7126058	17:g.7126058G>T	-
NM_000018.4(ACADVL):c.952C>T (p.Pro318Ser)	37	ACADVL	Likely pathogenic	762653370	RCV001376738;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126059	7126059	7126059	-
NM_000018.4(ACADVL):c.953C>T (p.Pro318Leu)	37	ACADVL	Likely pathogenic	201676770	RCV000506254\|RCV000529486;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126060	7126060	17:g.7126060C>T	ClinGen:CA287437583	CN169374 not specified;
NM_000018.4(ACADVL):c.954A>G (p.Pro318=)	37	ACADVL	Likely benign	137919558	RCV002188256;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126061	7126061	7126061	-
NM_000018.4(ACADVL):c.956C>A (p.Ser319Ter)	37	ACADVL	Pathogenic/Likely pathogenic	149467828	RCV000673848\|RCV003420192;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|	17	7126063	7126063	17:g.7126063C>A	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.956C>T (p.Ser319Leu)	37	ACADVL	Uncertain significance	149467828	RCV001200702\|RCV001586040;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN517202	17	7126063	7126063	17:g.7126063C>T	-
NM_000018.4(ACADVL):c.957G>A (p.Ser319=)	37	ACADVL	Conflicting interpretations of pathogenicity	143870522	RCV001402886\|RCV002225835;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7126064	7126064	7126064	-
NM_000018.4(ACADVL):c.959dup (p.Asn321fs)	37	ACADVL	Pathogenic	-1	RCV002900336;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126065	7126066	NC_000017.10:g.7126066dup	-
NM_000018.4(ACADVL):c.963C>A (p.Asn321Lys)	37	ACADVL	Uncertain significance	568118142	RCV000810374;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126070	7126070	17:g.7126070C>A	-
NM_000018.4(ACADVL):c.963C>T (p.Asn321=)	37	ACADVL	Conflicting interpretations of pathogenicity	568118142	RCV000873096\|RCV002372473\|RCV003424413;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MeSH:D030342,MedGen:C0950123\|MedGen:C3661900	17	7126070	7126070	17:g.7126070C>T	-
NM_000018.4(ACADVL):c.964G>A (p.Val322Met)	37	ACADVL	Uncertain significance	1257648581	RCV001200827;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126071	7126071	17:g.7126071G>A	-
NM_000018.4(ACADVL):c.967C>T (p.Leu323=)	37	ACADVL	Likely benign	778134085	RCV000980649;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126074	7126074	17:g.7126074C>T	-
NM_000018.4(ACADVL):c.969G>A (p.Leu323=)	37	ACADVL	Conflicting interpretations of pathogenicity	749734276	RCV000338520;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126076	7126076	NC_000017.10:g.7126076G>A	ClinGen:CA8337918	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.972T>C (p.Gly324=)	37	ACADVL	Likely benign	1555528483	RCV000608388\|RCV002529511;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126079	7126079	17:g.7126079T>C	ClinGen:CA497620224	CN169374 not specified;
NM_000018.4(ACADVL):c.975G>C (p.Glu325Asp)	37	ACADVL	Uncertain significance	1271862153	RCV001944905;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126082	7126082	7126082	-
NM_000018.4(ACADVL):c.976G>T (p.Val326Phe)	37	ACADVL	Uncertain significance	-1	RCV003036475;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126083	7126083	NC_000017.10:g.7126083G>T	-
NM_000018.4(ACADVL):c.977T>C (p.Val326Ala)	37	ACADVL	Uncertain significance	1205407134	RCV001305285;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126084	7126084	7126084	-
NM_000018.4(ACADVL):c.977T>A (p.Val326Asp)	37	ACADVL	Likely pathogenic	1205407134	RCV001872874;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126084	7126084	7126084	-
NM_000018.4(ACADVL):c.981G>C (p.Gly327=)	37	ACADVL	Likely benign	527421619	RCV000924202;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126088	7126088	17:g.7126088G>C	-
NM_000018.4(ACADVL):c.984T>C (p.Ser328=)	37	ACADVL	Likely benign	148803927	RCV001488029;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126091	7126091	7126091	-
NM_000018.4(ACADVL):c.988T>C (p.Phe330Leu)	37	ACADVL	Uncertain significance	947624074	RCV001200828;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126095	7126095	17:g.7126095T>C	-
NM_000018.4(ACADVL):c.990C>G (p.Phe330Leu)	37	ACADVL	Uncertain significance	2071292084	RCV001056125;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126097	7126097	17:g.7126097C>G	-
NM_000018.4(ACADVL):c.992A>C (p.Lys331Thr)	37	ACADVL	Uncertain significance	727503792	RCV000152738\|RCV000694458;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126099	7126099	17:g.7126099A>C	ClinGen:CA233432	CN169374 not specified;
NM_000018.4(ACADVL):c.994G>A (p.Val332Ile)	37	ACADVL	Uncertain significance	775761275	RCV000390406;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126101	7126101	NC_000017.10:g.7126101G>A	ClinGen:CA8337922	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.996dup (p.Ala333fs)	37	ACADVL	Pathogenic/Likely pathogenic	1057516843	RCV000409885;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126101	7126102	NC_000017.10:g.7126103dup	ClinGen:CA16041865	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.996del (p.Ala333fs)	37	ACADVL	Pathogenic/Likely pathogenic	1057516843	RCV000410931\|RCV001841276;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|EFO:EFO_0004269,Human Phenotype Ontology:HP:0001656,Human Phenotype Ontology:HP:0001661,Human Phenotype Ontology:HP:0001665,Human Phenotype Ontology:HP:0001666,Human Phenotype Ontology:HP:00	17	7126102	7126102	17:g.7126102_7126102del	ClinGen:CA16041864	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.997G>A (p.Ala333Thr)	37	ACADVL	Uncertain significance	2071292782	RCV001230578;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126104	7126104	17:g.7126104G>A	-
NM_000018.4(ACADVL):c.997_998insT (p.Ala333fs)	37	ACADVL	Pathogenic	-1	RCV003164887;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126104	7126105		-
NM_000018.4(ACADVL):c.999C>G (p.Ala333=)	37	ACADVL	Likely benign	760659262	RCV001472157;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126106	7126106	7126106	-
NM_000018.4(ACADVL):c.1000A>G (p.Met334Val)	37	ACADVL	Likely pathogenic	1487767890	RCV002023288;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126107	7126107	7126107	-
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg)	37	ACADVL	Conflicting interpretations of pathogenicity	398123079	RCV000077898\|RCV000668860\|RCV001174775;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN169374	17	7126108	7126108	17:g.7126108T>G	ClinGen:CA285287	CN517202 not provided;
NM_000018.4(ACADVL):c.1004A>G (p.His335Arg)	37	ACADVL	Uncertain significance	2142980423	RCV002003303;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126111	7126111	7126111	-
NM_000018.4(ACADVL):c.1005C>A (p.His335Gln)	37	ACADVL	Uncertain significance	753624994	RCV000311336\|RCV001551430;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN517202	17	7126112	7126112	NC_000017.10:g.7126112C>A	ClinGen:CA8337925	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1005C>T (p.His335=)	37	ACADVL	Likely benign	-1	RCV002880394;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126112	7126112		-
NM_000018.4(ACADVL):c.1009_1011del (p.Leu337del)	37	ACADVL	Uncertain significance	1315330884	RCV000674673;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126114	7126116	17:g.7126114_7126116del	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1007_1026del (p.Ile336fs)	37	ACADVL	Likely pathogenic	1567565643	RCV000705209;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126114	7126133	17:g.7126114_7126133del	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1007T>A (p.Ile336Asn)	37	ACADVL	Uncertain significance	1431769044	RCV001324101;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126114	7126114	7126114	-
NM_000018.4(ACADVL):c.1009C>T (p.Leu337Phe)	37	ACADVL	Uncertain significance	1567565656	RCV000691839\|RCV001575404;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN517202	17	7126116	7126116	17:g.7126116C>T	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1011C>T (p.Leu337=)	37	ACADVL	Likely benign	-1	RCV002880689;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126118	7126118		-
NM_000018.4(ACADVL):c.1013A>G (p.Asn338Ser)	37	ACADVL	Conflicting interpretations of pathogenicity	956279629	RCV000489160\|RCV001041886;	N	MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126120	7126120	NC_000017.10:g.7126120A>G	ClinGen:CA287437666
NM_000018.4(ACADVL):c.1015A>T (p.Asn339Tyr)	37	ACADVL	Uncertain significance	2071293900	RCV001304946;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126122	7126122	7126122	-
NM_000018.4(ACADVL):c.1017T>C (p.Asn339=)	37	ACADVL	Likely benign	2142980519	RCV002217888;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126124	7126124	7126124	-
NM_000018.4(ACADVL):c.1019G>T (p.Gly340Val)	37	ACADVL	Conflicting interpretations of pathogenicity	934797393	RCV000489813\|RCV000555492\|RCV003392319;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|	17	7126126	7126126	17:g.7126126G>T	ClinGen:CA287437667	CN517202 not provided;
NM_000018.4(ACADVL):c.1019G>A (p.Gly340Glu)	37	ACADVL	Uncertain significance	934797393	RCV001200829;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126126	7126126	17:g.7126126G>A	-
NM_000018.4(ACADVL):c.1022G>C (p.Arg341Thr)	37	ACADVL	Uncertain significance	1064793382	RCV000479965\|RCV001200830;	N	MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126129	7126129	NC_000017.10:g.7126129G>C	ClinGen:CA16620600
NM_000018.4(ACADVL):c.1023G>A (p.Arg341=)	37	ACADVL	Likely benign	373411700	RCV000936165;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126130	7126130	17:g.7126130G>A	-
NM_000018.4(ACADVL):c.1024T>C (p.Phe342Leu)	37	ACADVL	Uncertain significance	1356652354	RCV000727590\|RCV001200831;	N	MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126131	7126131	NC_000017.10:g.7126131T>C	-
NM_000018.4(ACADVL):c.1031T>G (p.Met344Arg)	37	ACADVL	Uncertain significance	2142980587	RCV001978399;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126138	7126138	7126138	-
NM_000018.4(ACADVL):c.1037C>T (p.Ala346Val)	37	ACADVL	Uncertain significance	1303150138	RCV000685409;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126144	7126144	NC_000017.10:g.7126144C>T	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1037C>G (p.Ala346Gly)	37	ACADVL	Uncertain significance	-1	RCV002819993;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126144	7126144	NC_000017.10:g.7126144C>G	-
NM_000018.4(ACADVL):c.1038G>A (p.Ala346=)	37	ACADVL	Benign	8064573	RCV000020068\|RCV000077899\|RCV001705595;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN169374\|MedGen:C3661900	17	7126145	7126145	17:g.7126145G>A	ClinGen:CA145601	CN169374 not specified;
NM_000018.4(ACADVL):c.1039del (p.Ala347fs)	37	ACADVL	Likely pathogenic	2071295244	RCV001200805;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126145	7126145	17:g.7126145_7126145del	-
NM_000018.4(ACADVL):c.1040C>T (p.Ala347Val)	37	ACADVL	Uncertain significance	2071295317	RCV001200832;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126147	7126147	17:g.7126147C>T	-
NM_000018.4(ACADVL):c.1043_1065dup (p.Ile356delinsTrpGlnValProTer)	37	ACADVL	Pathogenic/Likely pathogenic	1555528508	RCV000667710;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126148	7126149	17:g.7126148_7126149insCTGGCAGGTACCATGAGAGGCAT	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1043T>C (p.Leu348Pro)	37	ACADVL	Uncertain significance	-1	RCV003007553;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126150	7126150	NC_000017.10:g.7126150T>C	-
NM_000018.4(ACADVL):c.1045G>A (p.Ala349Thr)	37	ACADVL	Conflicting interpretations of pathogenicity	1567565733	RCV001200833;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126152	7126152	17:g.7126152G>A	-
NM_000018.4(ACADVL):c.1045G>C (p.Ala349Pro)	37	ACADVL	Uncertain significance	1567565733	RCV001340911;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126152	7126152	7126152	-
NM_000018.4(ACADVL):c.1046C>A (p.Ala349Glu)	37	ACADVL	Likely pathogenic	1227564457	RCV001200834;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126153	7126153	17:g.7126153C>A	-
NM_000018.4(ACADVL):c.1048G>A (p.Gly350Ser)	37	ACADVL	Uncertain significance	767138639	RCV001065958;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126155	7126155	17:g.7126155G>A	-
NM_000018.4(ACADVL):c.1049G>C (p.Gly350Ala)	37	ACADVL	Uncertain significance	1343647718	RCV000814041;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126156	7126156	17:g.7126156G>C	-
NM_000018.4(ACADVL):c.1049G>T (p.Gly350Val)	37	ACADVL	Likely pathogenic	1343647718	RCV001200835;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126156	7126156	17:g.7126156G>T	-
NM_000018.4(ACADVL):c.1049G>A (p.Gly350Asp)	37	ACADVL	Uncertain significance	-1	RCV002904000;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126156	7126156	NC_000017.10:g.7126156G>A	-
NM_000018.4(ACADVL):c.1050T>C (p.Gly350=)	37	ACADVL	Likely benign	752314368	RCV001464471;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126157	7126157	7126157	-
NM_000018.4(ACADVL):c.1052C>A (p.Thr351Asn)	37	ACADVL	Uncertain significance	796051911	RCV000507100\|RCV001200836;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126159	7126159	17:g.7126159C>A	ClinGen:CA312262	CN169374 not specified;
NM_000018.4(ACADVL):c.1052C>T (p.Thr351Ile)	37	ACADVL	Uncertain significance	796051911	RCV000756955\|RCV001272782;	N	MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126159	7126159	NC_000017.10:g.7126159C>T	-
NM_000018.4(ACADVL):c.1055T>G (p.Met352Arg)	37	ACADVL	Uncertain significance	2071296504	RCV001200837;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126162	7126162	17:g.7126162T>G	-
NM_000018.4(ACADVL):c.1055T>C (p.Met352Thr)	37	ACADVL	Uncertain significance	-1	RCV003139571;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126162	7126162	NC_000017.10:g.7126162T>C	-
NM_000018.4(ACADVL):c.1056_1058delinsA (p.Met352fs)	37	ACADVL	Likely pathogenic	2071296591	RCV001200806;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126163	7126165	17:g.7126164_7126165del	-
NM_000018.4(ACADVL):c.1059_1060del (p.Gly354fs)	37	ACADVL	Likely pathogenic	1402646371	RCV001200807;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126163	7126164	17:g.7126163_7126164del	-
NM_000018.4(ACADVL):c.1062CAT[1] (p.Ile356del)	37	ACADVL	Conflicting interpretations of pathogenicity	754325237	RCV000671665\|RCV001540648\|RCV001779050;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900\|MedGen:CN169374	17	7126169	7126171	17:g.7126169_7126171del	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1062C>A (p.Gly354=)	37	ACADVL	Likely benign	2142980779	RCV001492143;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126169	7126169	7126169	-
NM_000018.4(ACADVL):c.1063A>G (p.Ile355Val)	37	ACADVL	Uncertain significance	2071297089	RCV001200838;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126170	7126170	17:g.7126170A>G	-
NM_000018.4(ACADVL):c.1063_1064delinsGG (p.Ile355Gly)	37	ACADVL	Uncertain significance	-1	RCV002870910;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126170	7126171	NC_000017.10:g.7126170_7126171delinsGG	-
NM_000018.4(ACADVL):c.1064T>C (p.Ile355Thr)	37	ACADVL	Conflicting interpretations of pathogenicity	1351976589	RCV000813585\|RCV003226399;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN169374	17	7126171	7126171	17:g.7126171T>C	-
NM_000018.4(ACADVL):c.1064T>G (p.Ile355Ser)	37	ACADVL	Uncertain significance	1351976589	RCV001200839;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126171	7126171	17:g.7126171T>G	-
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val)	37	ACADVL	Uncertain significance	150140386	RCV000173615\|RCV000544014\|RCV001704250;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7126173	7126173	17:g.7126173A>G	ClinGen:CA200650	CN169374 not specified;
NM_000018.4(ACADVL):c.1067T>C (p.Ile356Thr)	37	ACADVL	Uncertain significance	2071297392	RCV001053916;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126174	7126174	17:g.7126174T>C	-
NM_000018.4(ACADVL):c.1073del (p.Lys358fs)	37	ACADVL	Likely pathogenic	-1	RCV002310134;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126179	7126179	7126178	-
NM_000018.4(ACADVL):c.1072A>G (p.Lys358Glu)	37	ACADVL	Uncertain significance	-1	RCV002952436;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126179	7126179	NC_000017.10:g.7126179A>G	-
NM_000018.4(ACADVL):c.1074G>A (p.Lys358=)	37	ACADVL	Likely benign	-1	RCV002616867;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126181	7126181		-
NM_000018.4(ACADVL):c.1076C>T (p.Ala359Val)	37	ACADVL	Conflicting interpretations of pathogenicity	539029862	RCV000652045\|RCV001200112;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7126183	7126183	NC_000017.10:g.7126183C>T	ClinGen:CA8337933	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC	37	ACADVL	Pathogenic	1057516686	RCV000411230\|RCV000725401\|RCV003401388;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900\|	17	7126184	7126185	NC_000017.10:g.7126184_7126185delinsCAC	ClinGen:CA16041866	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1077G>A (p.Ala359=)	37	ACADVL	Conflicting interpretations of pathogenicity	779458466	RCV000652035;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126184	7126184	17:g.7126184G>A	ClinGen:CA8337934	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1077_1077+1del	37	ACADVL	Likely pathogenic	2142980883	RCV001377567;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126184	7126185	7126183	-
NM_000018.4(ACADVL):c.1077+1G>T	37	ACADVL	Likely pathogenic	140989450	RCV000412397;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126185	7126185	NC_000017.10:g.7126185G>T	ClinGen:CA16041867	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1077+1G>A	37	ACADVL	Likely pathogenic	140989450	RCV000520772\|RCV000666633;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126185	7126185	17:g.7126185G>A	ClinGen:CA287437693	CN517202 not provided;
NM_000018.4(ACADVL):c.1077+3_1077+6del	37	ACADVL	Uncertain significance	2071298305	RCV001200749;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126185	7126188	17:g.7126185_7126188del	-
NM_000018.4(ACADVL):c.1077+2T>C	37	ACADVL	Pathogenic	1057516370	RCV000411047\|RCV001090638;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7126186	7126186	NC_000017.10:g.7126186T>C	ClinGen:CA16041868	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1077+2T>A	37	ACADVL	Pathogenic	-1	RCV002286687;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126186	7126186	7126186	-
NM_000018.4(ACADVL):c.1077+5G>A	37	ACADVL	Uncertain significance	-1	RCV002711554;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126189	7126189	NC_000017.10:g.7126189G>A	-
NM_000018.4(ACADVL):c.1077+8C>T	37	ACADVL	Likely benign	938844412	RCV001448379;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126192	7126192	7126192	-
NM_000018.4(ACADVL):c.1077+9C>G	37	ACADVL	Likely benign	2142980927	RCV002139472;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126193	7126193	7126193	-
NM_000018.4(ACADVL):c.1077+10C>G	37	ACADVL	Likely benign	-1	RCV003039465;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126194	7126194	NC_000017.10:g.7126194C>G	-
NM_000018.4(ACADVL):c.1077+15C>T	37	ACADVL	Likely benign	202237278	RCV000614488\|RCV001126555;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126199	7126199	17:g.7126199C>T	ClinGen:CA8337936	CN169374 not specified;
NM_000018.4(ACADVL):c.1077+16G>A	37	ACADVL	Conflicting interpretations of pathogenicity	780420241	RCV001200728;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126200	7126200	17:g.7126200G>A	-
NM_000018.4(ACADVL):c.1078-23G>A	37	ACADVL	Likely benign	372299655	RCV001285052;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126429	7126429	7126429	-
NC_000017.10:g.(?_7126433)_(7126544_?)del	37	ACADVL	Pathogenic	-1	RCV003119079;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126433	7126544		-
NM_000018.4(ACADVL):c.1078-15T>A	37	ACADVL	Likely benign	2071310800	RCV002203646;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126437	7126437	7126437	-
NM_000018.4(ACADVL):c.1078-13G>C	37	ACADVL	Likely benign	368366316	RCV002135101;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126439	7126439	7126439	-
NM_000018.4(ACADVL):c.1078-10C>T	37	ACADVL	Likely benign	748209172	RCV001409300;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126442	7126442	7126442	-
NM_000018.4(ACADVL):c.1078-9C>T	37	ACADVL	Likely benign	2071311236	RCV002193998;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126443	7126443	7126443	-
NM_000018.4(ACADVL):c.1078-8T>C	37	ACADVL	Likely benign	1597531722	RCV001487593;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126444	7126444	17:g.7126444T>C	-
NM_000018.4(ACADVL):c.1078-5T>G	37	ACADVL	Uncertain significance	1266629718	RCV001321272;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126447	7126447	7126447	-
NM_000018.4(ACADVL):c.1078-2A>G	37	ACADVL	Likely pathogenic	2142981920	RCV001378645;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126450	7126450	7126450	-
NM_000018.4(ACADVL):c.1079T>C (p.Val360Ala)	37	ACADVL	Uncertain significance	1284063777	RCV000805643;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126453	7126453	17:g.7126453T>C	-
NM_000018.4(ACADVL):c.1080A>T (p.Val360=)	37	ACADVL	Likely benign	2142981942	RCV001395572;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126454	7126454	7126454	-
NM_000018.4(ACADVL):c.1081G>A (p.Asp361Asn)	37	ACADVL	Conflicting interpretations of pathogenicity	1331739604	RCV001126556;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126455	7126455	17:g.7126455G>A	-
NM_000018.4(ACADVL):c.1082A>G (p.Asp361Gly)	37	ACADVL	Uncertain significance	1214845060	RCV001988944;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126456	7126456	7126456	-
NM_000018.4(ACADVL):c.1083T>C (p.Asp361=)	37	ACADVL	Likely benign	770917473	RCV000981136;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126457	7126457	17:g.7126457T>C	-
NM_000018.4(ACADVL):c.1089C>A (p.Ala363=)	37	ACADVL	Likely benign	774273664	RCV001444477;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126463	7126463	7126463	-
NM_000018.4(ACADVL):c.1089C>T (p.Ala363=)	37	ACADVL	Likely benign	774273664	RCV001477888;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126463	7126463	7126463	-
NM_000018.4(ACADVL):c.1092T>C (p.Thr364=)	37	ACADVL	Likely benign	745742925	RCV001421801;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126466	7126466	7126466	-
NM_000018.4(ACADVL):c.1093A>G (p.Asn365Asp)	37	ACADVL	Uncertain significance	988045058	RCV001931653;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126467	7126467	7126467	-
NM_000018.4(ACADVL):c.1093_1094insT (p.Asn365fs)	37	ACADVL	Pathogenic	2142982040	RCV001896255;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126467	7126468	7126467	-
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys)	37	ACADVL	Conflicting interpretations of pathogenicity	771874163	RCV000185719\|RCV000675110;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126470	7126470	NC_000017.10:g.7126470C>T	ClinGen:CA312264,UniProtKB:P49748#VAR_000349	CN517202 not provided;
NM_000018.4(ACADVL):c.1096C>G (p.Arg366Gly)	37	ACADVL	Uncertain significance	771874163	RCV001952657;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126470	7126470	7126470	-
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His)	37	ACADVL	Likely pathogenic	112406105	RCV000185720\|RCV000411732;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126471	7126471	17:g.7126471G>A	ClinGen:CA312265,UniProtKB:P49748#VAR_000350,ClinVar:867229	CN517202 not provided;
NM_000018.4(ACADVL):c.1098T>C (p.Arg366=)	37	ACADVL	Likely benign	2142982087	RCV001972690;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126472	7126472	7126472	-
NM_000018.4(ACADVL):c.1101C>T (p.Thr367=)	37	ACADVL	Likely benign	1179669157	RCV002153512\|RCV003308016;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MeSH:D030342,MedGen:C0950123	17	7126475	7126475	7126475	-
NM_000018.4(ACADVL):c.1101C>A (p.Thr367=)	37	ACADVL	Likely benign	-1	RCV003049002;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126475	7126475		-
NM_000018.4(ACADVL):c.1102_1103del (p.Gln368fs)	37	ACADVL	Likely pathogenic	1567566228	RCV000756957\|RCV002286576;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126476	7126477	NC_000017.10:g.7126476_7126477del	-
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro)	37	ACADVL	Conflicting interpretations of pathogenicity	776063244	RCV000507714\|RCV000558671\|RCV000726785;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7126477	7126477	17:g.7126477A>C	ClinGen:CA8337965	CN169374 not specified;
NM_000018.4(ACADVL):c.1103A>T (p.Gln368Leu)	37	ACADVL	Uncertain significance	776063244	RCV001200842;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126477	7126477	17:g.7126477A>T	-
NM_000018.4(ACADVL):c.1106T>C (p.Phe369Ser)	37	ACADVL	Conflicting interpretations of pathogenicity	398123080	RCV000173951\|RCV002513812;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126480	7126480	17:g.7126480T>C	ClinGen:CA220189	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1111G>A (p.Glu371Lys)	37	ACADVL	Uncertain significance	-1	RCV002819701;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126485	7126485	NC_000017.10:g.7126485G>A	-
NM_000018.4(ACADVL):c.1113del (p.Ile373fs)	37	ACADVL	Pathogenic/Likely pathogenic	1057517416	RCV000411060;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126487	7126487	17:g.7126487_7126487del	ClinGen:CA16041869	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1125C>T (p.Asn375=)	37	ACADVL	Likely benign	1349423150	RCV002170701;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126499	7126499	7126499	-
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser)	37	ACADVL	Conflicting interpretations of pathogenicity	758928307	RCV000652042;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126501	7126501	17:g.7126501T>C	ClinGen:CA312266	CN169374 not specified;
NM_000018.4(ACADVL):c.1128T>G (p.Phe376Leu)	37	ACADVL	Uncertain significance	-1	RCV003009160;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126502	7126502	NC_000017.10:g.7126502T>G	-
NM_000018.4(ACADVL):c.1131G>A (p.Gly377=)	37	ACADVL	Likely benign	2142982245	RCV002110566;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126505	7126505	7126505	-
NM_000018.4(ACADVL):c.1133T>C (p.Leu378Pro)	37	ACADVL	Uncertain significance	2071314177	RCV001348318\|RCV001568489;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN517202	17	7126507	7126507	7126507	-
NM_000018.4(ACADVL):c.1138dup (p.Gln380fs)	37	ACADVL	Pathogenic	2142982293	RCV001953028;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126510	7126511	7126510	-
NM_000018.4(ACADVL):c.1138C>T (p.Gln380Ter)	37	ACADVL	Pathogenic	781467053	RCV001893228;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126512	7126512	7126512	-
NM_000018.4(ACADVL):c.1141_1143del (p.Glu381del)	37	ACADVL	Pathogenic	1057517281	RCV000409783;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126513	7126515	17:g.7126513_7126515del	ClinGen:CA16041870	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1140G>A (p.Gln380=)	37	ACADVL	Likely benign	748299183	RCV001505077;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126514	7126514	7126514	-
NM_000018.4(ACADVL):c.1141G>A (p.Glu381Lys)	37	ACADVL	Uncertain significance	1212266005	RCV001200750;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126515	7126515	17:g.7126515G>A	-
NM_000018.4(ACADVL):c.1144A>C (p.Lys382Gln)	37	ACADVL	Likely pathogenic	118204015	RCV000001695;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126518	7126518	17:g.7126518A>C	ClinGen:CA251906,UniProtKB:P49748#VAR_000352,OMIM:609575.0008	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1145del (p.Lys382fs)	37	ACADVL	Pathogenic	1281137823	RCV001009268\|RCV001385902;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126518	7126518	17:g.7126518_7126518del	-
NM_000018.4(ACADVL):c.1146G>C (p.Lys382Asn)	37	ACADVL	Conflicting interpretations of pathogenicity	1057523504	RCV000432798\|RCV001200751;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126520	7126520	NC_000017.10:g.7126520G>C	ClinGen:CA16607872
NM_000018.4(ACADVL):c.1146G>A (p.Lys382=)	37	ACADVL	Likely benign	1057523504	RCV001424094;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126520	7126520	7126520	-
NM_000018.4(ACADVL):c.1147C>G (p.Leu383Val)	37	ACADVL	Uncertain significance	756194870	RCV001200752;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126521	7126521	17:g.7126521C>G	-
NM_000018.4(ACADVL):c.1147C>T (p.Leu383=)	37	ACADVL	Likely benign	756194870	RCV001450662;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126521	7126521	7126521	-
NM_000018.4(ACADVL):c.1147C>A (p.Leu383Met)	37	ACADVL	Uncertain significance	-1	RCV002618018;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126521	7126521	NC_000017.10:g.7126521C>A	-
NM_000018.4(ACADVL):c.1151_1154dup (p.Met386fs)	37	ACADVL	Pathogenic	2142982389	RCV001941824;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126523	7126524	7126523	-
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp)	37	ACADVL	Conflicting interpretations of pathogenicity	745832866	RCV000173952\|RCV000668844;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126527	7126527	17:g.7126527C>T	ClinGen:CA239438	CN169374 not specified;
NM_000018.4(ACADVL):c.1153C>A (p.Arg385=)	37	ACADVL	Likely benign	-1	RCV002899475;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126527	7126527		-
NM_000018.4(ACADVL):c.1154G>A (p.Arg385Gln)	37	ACADVL	Conflicting interpretations of pathogenicity	772014118	RCV001043789;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126528	7126528	17:g.7126528G>A	-
NM_000018.4(ACADVL):c.1158G>A (p.Met386Ile)	37	ACADVL	Uncertain significance	2142982416	RCV001957275;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126532	7126532	7126532	-
NM_000018.4(ACADVL):c.1159G>C (p.Val387Leu)	37	ACADVL	Uncertain significance	1422904205	RCV001057012;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126533	7126533	17:g.7126533G>C	-
NM_000018.4(ACADVL):c.1159G>A (p.Val387Ile)	37	ACADVL	Uncertain significance	1422904205	RCV002049825;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126533	7126533	7126533	-
NM_000018.4(ACADVL):c.1162A>T (p.Met388Leu)	37	ACADVL	Uncertain significance	-1	RCV003084329;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126536	7126536	NC_000017.10:g.7126536A>T	-
NM_000018.4(ACADVL):c.1167G>A (p.Leu389=)	37	ACADVL	Likely benign	2142982468	RCV002104649;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126541	7126541	7126541	-
NM_000018.4(ACADVL):c.1168C>T (p.Gln390Ter)	37	ACADVL	Likely pathogenic	-1	RCV003474423;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126542	7126542		-
NM_000018.4(ACADVL):c.1170G>C (p.Gln390His)	37	ACADVL	Uncertain significance	775196157	RCV001954678;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126544	7126544	7126544	-
NM_000018.4(ACADVL):c.1173T>A (p.Tyr391Ter)	37	ACADVL	Likely pathogenic	2071316298	RCV001205724;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126547	7126547	17:g.7126547T>A	-
NM_000018.4(ACADVL):c.1173T>C (p.Tyr391=)	37	ACADVL	Likely benign	2071316298	RCV001424123;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126547	7126547	7126547	-
NM_000018.4(ACADVL):c.1174G>A (p.Val392Ile)	37	ACADVL	Uncertain significance	-1	RCV003088413;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126548	7126548	NC_000017.10:g.7126548G>A	-
NM_000018.4(ACADVL):c.1176A>G (p.Val392=)	37	ACADVL	Likely benign	2071316566	RCV001432360;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126550	7126550	7126550	-
NM_000018.4(ACADVL):c.1177A>G (p.Thr393Ala)	37	ACADVL	Uncertain significance	199840831	RCV002034163;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126551	7126551	7126551	-
NM_000018.4(ACADVL):c.1182+1G>A	37	ACADVL	Likely pathogenic	113690956	RCV000001689\|RCV000210824;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7126557	7126557	NC_000017.10:g.7126557G>A	OMIM:609575.0002
NM_000018.4(ACADVL):c.1182+2dup	37	ACADVL	Uncertain significance	1597532215	RCV000792120;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126557	7126558	17:g.7126557_7126558insT	-
NM_000018.4(ACADVL):c.1182+2T>C	37	ACADVL	Likely pathogenic	1555528635	RCV000667334;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126558	7126558	17:g.7126558T>C	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1182+3G>A	37	ACADVL	Conflicting interpretations of pathogenicity	376281637	RCV000610876\|RCV002528554;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126559	7126559	17:g.7126559G>A	ClinGen:CA658798686	CN169374 not specified;
NM_000018.4(ACADVL):c.1182+3G>T	37	ACADVL	Conflicting interpretations of pathogenicity	376281637	RCV001200753\|RCV001551792\|RCV001797826;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900\|MedGen:CN169374	17	7126559	7126559	17:g.7126559G>T	-
NM_000018.4(ACADVL):c.1182+5G>A	37	ACADVL	Uncertain significance	-1	RCV002740408;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126561	7126561	NC_000017.10:g.7126561G>A	-
NM_000018.4(ACADVL):c.1182+17C>A	37	ACADVL	Uncertain significance	191276923	RCV000432949\|RCV001200796;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126573	7126573	17:g.7126573C>A	ClinGen:CA8337984	CN169374 not specified;
NM_000018.4(ACADVL):c.1182+18C>G	37	ACADVL	Likely benign	-1	RCV002961930;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126574	7126574	NC_000017.10:g.7126574C>G	-
NM_000018.4(ACADVL):c.1183-15A>G	37	ACADVL	Pathogenic/Likely pathogenic	765390290	RCV000506806\|RCV000668926\|RCV001570475;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN517202	17	7126948	7126948	17:g.7126948A>G	ClinGen:CA8338032	CN169374 not specified;
NM_000018.4(ACADVL):c.1183-7A>G	37	ACADVL	Uncertain significance	750441118	RCV000687039\|RCV003117488;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN169374	17	7126956	7126956	17:g.7126956A>G	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1183-6C>T	37	ACADVL	Likely benign	1184450028	RCV001497515;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126957	7126957	7126957	-
NM_000018.4(ACADVL):c.1183-4T>A	37	ACADVL	Likely benign	2142984151	RCV002220451;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126959	7126959	7126959	-
NM_000018.4(ACADVL):c.1183-2dup	37	ACADVL	Uncertain significance	1555528721	RCV000674331;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126960	7126961	17:g.7126960_7126961insA	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1183-1G>A	37	ACADVL	Likely pathogenic	1057516818	RCV000409279;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126962	7126962	17:g.7126962G>A	ClinGen:CA16041871	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1185C>G (p.Ser395=)	37	ACADVL	Uncertain significance	-1	RCV002857008;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126965	7126965		-
NM_000018.4(ACADVL):c.1186A>G (p.Met396Val)	37	ACADVL	Conflicting interpretations of pathogenicity	2071337130	RCV001126557;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126966	7126966	17:g.7126966A>G	-
NM_000018.4(ACADVL):c.1192_1206dup (p.Tyr398_Ala402dup)	37	ACADVL	Uncertain significance	2142984192	RCV002037186;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126968	7126969	7126968	-
NM_000018.4(ACADVL):c.1193_1194insGCA (p.Tyr398Ter)	37	ACADVL	Pathogenic	2071337202	RCV001200808;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126972	7126973	17:g.7126972_7126973insAGC	-
NM_000018.4(ACADVL):c.1194C>A (p.Tyr398Ter)	37	ACADVL	Pathogenic	1597533847	RCV001000184;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126974	7126974	17:g.7126974C>A	-
NM_000018.4(ACADVL):c.1194C>G (p.Tyr398Ter)	37	ACADVL	Pathogenic	-1	RCV003134956;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126974	7126974	NC_000017.10:g.7126974C>G	-
NM_000018.4(ACADVL):c.1197G>C (p.Met399Ile)	37	ACADVL	Uncertain significance	767552054	RCV001933505;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126977	7126977	7126977	-
NM_000018.4(ACADVL):c.1198G>A (p.Val400Met)	37	ACADVL	Conflicting interpretations of pathogenicity	149116708	RCV000666127;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126978	7126978	17:g.7126978G>A	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1200G>A (p.Val400=)	37	ACADVL	Likely benign	1597533902	RCV001470164;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126980	7126980	17:g.7126980G>A	-
NM_000018.4(ACADVL):c.1200G>C (p.Val400=)	37	ACADVL	Likely benign	1597533902	RCV002179171;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126980	7126980	7126980	-
NM_000018.4(ACADVL):c.1205C>T (p.Ala402Val)	37	ACADVL	Uncertain significance	727503793	RCV000152739\|RCV001050506;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126985	7126985	17:g.7126985C>T	ClinGen:CA233434	CN169374 not specified;
NM_000018.4(ACADVL):c.1205C>A (p.Ala402Asp)	37	ACADVL	Uncertain significance	727503793	RCV001200754;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126985	7126985	17:g.7126985C>A	-
NM_000018.4(ACADVL):c.1213G>A (p.Asp405Asn)	37	ACADVL	Likely pathogenic	-1	RCV002705466;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126993	7126993	NC_000017.10:g.7126993G>A	-
NM_000018.4(ACADVL):c.1213G>C (p.Asp405His)	37	ACADVL	Likely pathogenic	-1	RCV003460250;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126993	7126993		-
NM_000018.4(ACADVL):c.1215C>T (p.Asp405=)	37	ACADVL	Conflicting interpretations of pathogenicity	2071338251	RCV001128621;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126995	7126995	17:g.7126995C>T	-
NM_000018.4(ACADVL):c.1217A>C (p.Gln406Pro)	37	ACADVL	Conflicting interpretations of pathogenicity	1384021857	RCV000685865;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126997	7126997	NC_000017.10:g.7126997A>C	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1218G>A (p.Gln406=)	37	ACADVL	Likely benign	1597533984	RCV001453081;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7126998	7126998	7126998	-
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala)	37	ACADVL	Likely pathogenic	904631654	RCV000544920\|RCV001591287\|RCV001779006;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900\|MedGen:CN169374	17	7127000	7127000	17:g.7127000G>C	ClinGen:CA287439291	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1222G>A (p.Ala408Thr)	37	ACADVL	Uncertain significance	2071338597	RCV001200755;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127002	7127002	17:g.7127002G>A	-
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met)	37	ACADVL	Conflicting interpretations of pathogenicity	113994169	RCV000020069\|RCV002514121;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MeSH:D030342,MedGen:C0950123	17	7127006	7127006	17:g.7127006C>T	ClinGen:CA312268	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1226C>G (p.Thr409Arg)	37	ACADVL	Uncertain significance	113994169	RCV001922378;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127006	7127006	7127006	-
NM_000018.4(ACADVL):c.1227G>A (p.Thr409=)	37	ACADVL	Conflicting interpretations of pathogenicity	778531268	RCV001128622;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127007	7127007	17:g.7127007G>A	-
NM_000018.4(ACADVL):c.1234C>T (p.Gln412Ter)	37	ACADVL	Likely pathogenic	-1	RCV003460269;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127014	7127014		-
NM_000018.4(ACADVL):c.1236G>C (p.Gln412His)	37	ACADVL	Uncertain significance	745355288	RCV001200756;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127016	7127016	17:g.7127016G>C	-
NM_000018.4(ACADVL):c.1238T>C (p.Ile413Thr)	37	ACADVL	Likely pathogenic	-1	RCV003474375;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127018	7127018		-
NM_000018.4(ACADVL):c.1239A>G (p.Ile413Met)	37	ACADVL	Conflicting interpretations of pathogenicity	143172658	RCV000537897\|RCV001508431\|RCV003258873;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	17	7127019	7127019	17:g.7127019A>G	ClinGen:CA8338045	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1240G>A (p.Glu414Lys)	37	ACADVL	Uncertain significance	-1	RCV003082469;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127020	7127020	NC_000017.10:g.7127020G>A	-
NM_000018.4(ACADVL):c.1241A>C (p.Glu414Ala)	37	ACADVL	Likely pathogenic	1597534120	RCV001028002;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127021	7127021	17:g.7127021A>C	-
NM_000018.4(ACADVL):c.1242G>A (p.Glu414=)	37	ACADVL	Likely benign	2142984490	RCV002108156;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127022	7127022	7127022	-
NM_000018.4(ACADVL):c.1243GCC[1] (p.Ala416del)	37	ACADVL	Uncertain significance	-1	RCV002834120\|RCV003318732;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN517202	17	7127023	7127025	NC_000017.10:g.7127023GCC[1]	-
NM_000018.4(ACADVL):c.1245C>A (p.Ala415=)	37	ACADVL	Likely benign	1481416358	RCV001396002;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127025	7127025	7127025	-
NM_000018.4(ACADVL):c.1245C>T (p.Ala415=)	37	ACADVL	Likely benign	1481416358	RCV002111283;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127025	7127025	7127025	-
NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr)	37	ACADVL	Likely pathogenic	118204018	RCV000001700;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127026	7127026	17:g.7127026G>A	ClinGen:CA251908,OMIM:609575.0013	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1246G>T (p.Ala416Ser)	37	ACADVL	Conflicting interpretations of pathogenicity	118204018	RCV000668964;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127026	7127026	17:g.7127026G>T	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1250T>G (p.Ile417Ser)	37	ACADVL	Uncertain significance	2071340219	RCV001228837;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127030	7127030	17:g.7127030T>G	-
NM_000018.4(ACADVL):c.1251del (p.Ser418fs)	37	ACADVL	Likely pathogenic	2142984544	RCV001386531;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127031	7127031	7127030	-
NM_000018.4(ACADVL):c.1251C>T (p.Ile417=)	37	ACADVL	Uncertain significance	-1	RCV003047085;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127031	7127031		-
NM_000018.4(ACADVL):c.1253G>A (p.Ser418Asn)	37	ACADVL	Pathogenic	1555528737	RCV000548112;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127033	7127033	17:g.7127033G>A	ClinGen:CA397724694	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1254C>G (p.Ser418Arg)	37	ACADVL	Uncertain significance	2071340371	RCV001200703;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127034	7127034	17:g.7127034C>G	-
NM_000018.4(ACADVL):c.1257A>G (p.Lys419=)	37	ACADVL	Likely benign	2142984575	RCV002145699;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127037	7127037	7127037	-
NM_000018.4(ACADVL):c.1263T>C (p.Phe421=)	37	ACADVL	Likely benign	-1	RCV002857101;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127043	7127043		-
NM_000018.4(ACADVL):c.1268C>T (p.Ser423Leu)	37	ACADVL	Uncertain significance	1451455641	RCV000706755;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127048	7127048	NC_000017.10:g.7127048C>T	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1268C>A (p.Ser423Ter)	37	ACADVL	Pathogenic/Likely pathogenic	1451455641	RCV001980227;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127048	7127048	7127048	-
NM_000018.4(ACADVL):c.1269G>A (p.Ser423=)	37	ACADVL	Conflicting interpretations of pathogenicity	765356942	RCV000690205;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127049	7127049	NC_000017.10:g.7127049G>A	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1269+1del	37	ACADVL	Uncertain significance	2071340733	RCV001247120;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127049	7127049	17:g.7127049_7127049del	-
NM_000018.4(ACADVL):c.1269+1G>A	37	ACADVL	Likely pathogenic	773401248	RCV000671502;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127050	7127050	17:g.7127050G>A	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1269+8C>G	37	ACADVL	Likely benign	766504482	RCV002122586;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127057	7127057	7127057	-
NM_000018.4(ACADVL):c.1269+9C>G	37	ACADVL	Likely benign	2142984643	RCV002153602;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127058	7127058	7127058	-
NM_000018.4(ACADVL):c.1269+10C>T	37	ACADVL	Likely benign	1555528738	RCV001435804;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127059	7127059	17:g.7127059C>T	ClinGen:CA658658532	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1269+13dup	37	ACADVL	Uncertain significance	2071341157	RCV001200773;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127060	7127061	17:g.7127060_7127061insG	-
NM_000018.4(ACADVL):c.1269+16T>C	37	ACADVL	Likely benign	2142984714	RCV002152231;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127065	7127065	7127065	-
NM_000018.4(ACADVL):c.1269+18C>G	37	ACADVL	Uncertain significance	1567567226	RCV002010148;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127067	7127067	7127067	-
NM_000018.4(ACADVL):c.1269+22dup	37	ACADVL	Likely benign	780870246	RCV002116289;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127068	7127069	7127068	-
NM_000018.4(ACADVL):c.1269+20G>A	37	ACADVL	Likely benign	-1	RCV002929053;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127069	7127069	NC_000017.10:g.7127069G>A	-
NM_000018.4(ACADVL):c.1269+25G>A	37	ACADVL	Uncertain significance	373157378	RCV001200772;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127074	7127074	17:g.7127074G>A	-
NM_000018.4(ACADVL):c.1270-38A>G	37	ACADVL	Likely benign	1555528742	RCV000666824;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127094	7127094	17:g.7127094A>G	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1270-20C>T	37	ACADVL	Likely benign	-1	RCV002600550;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127112	7127112	NC_000017.10:g.7127112C>T	-
NM_000018.4(ACADVL):c.1270-18T>C	37	ACADVL	Likely benign	-1	RCV002731245;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127114	7127114	NC_000017.10:g.7127114T>C	-
NM_000018.4(ACADVL):c.1270-17C>G	37	ACADVL	Likely benign	-1	RCV002953647;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127115	7127115	NC_000017.10:g.7127115C>G	-
NM_000018.4(ACADVL):c.1270-9T>G	37	ACADVL	Likely benign	2142984921	RCV002079391;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127123	7127123	7127123	-
NM_000018.4(ACADVL):c.1270-6C>T	37	ACADVL	Likely benign	-1	RCV002952533;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127126	7127126	NC_000017.10:g.7127126C>T	-
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr)	37	ACADVL	Conflicting interpretations of pathogenicity	138834083	RCV000418569\|RCV000652034\|RCV003114240;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN169374	17	7127135	7127135	17:g.7127135G>A	ClinGen:CA220191	CN517202 not provided;
NM_000018.4(ACADVL):c.1276G>A (p.Ala426Thr)	37	ACADVL	Conflicting interpretations of pathogenicity	1419478766	RCV000817166;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127138	7127138	17:g.7127138G>A	-
NM_000018.4(ACADVL):c.1278C>T (p.Ala426=)	37	ACADVL	Likely benign	-1	RCV002790727;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127140	7127140		-
NM_000018.4(ACADVL):c.1280G>A (p.Trp427Ter)	37	ACADVL	Likely pathogenic	1057516519	RCV000412097;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127142	7127142	17:g.7127142G>A	ClinGen:CA16041872	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1281G>C (p.Trp427Cys)	37	ACADVL	Uncertain significance	1567567312	RCV000755775\|RCV003141736;	N	MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127143	7127143	NC_000017.10:g.7127143G>C	-
NM_000018.4(ACADVL):c.1283del (p.Lys428fs)	37	ACADVL	Likely pathogenic	1555528745	RCV000673169;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127144	7127144	17:g.7127144_7127144del	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1284G>A (p.Lys428=)	37	ACADVL	Conflicting interpretations of pathogenicity	35501596	RCV000020070\|RCV001703416\|RCV002381258;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	17	7127146	7127146	17:g.7127146G>A	ClinGen:CA341515	CN169374 not specified;
NM_000018.4(ACADVL):c.1287G>A (p.Val429=)	37	ACADVL	Conflicting interpretations of pathogenicity	999226548	RCV000756954\|RCV002061028;	N	MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127149	7127149	NC_000017.10:g.7127149G>A	-
NM_000018.4(ACADVL):c.1291G>C (p.Asp431His)	37	ACADVL	Uncertain significance	781658827	RCV000696893;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127153	7127153	17:g.7127153G>C	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1292A>G (p.Asp431Gly)	37	ACADVL	Pathogenic	2142985073	RCV002249222;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127154	7127154	7127154	-
NM_000018.4(ACADVL):c.1293T>C (p.Asp431=)	37	ACADVL	Likely benign	2142985083	RCV002098677;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127155	7127155	7127155	-
NM_000018.4(ACADVL):c.1294G>T (p.Glu432Ter)	37	ACADVL	Likely pathogenic	1597534677	RCV000817615;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127156	7127156	17:g.7127156G>T	-
NM_000018.4(ACADVL):c.1297T>C (p.Cys433Arg)	37	ACADVL	Uncertain significance	886053374	RCV000400488;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127159	7127159	NC_000017.10:g.7127159T>C	ClinGen:CA10650018	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1302C>A (p.Ile434=)	37	ACADVL	Likely benign	1469316904	RCV001472436;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127164	7127164	7127164	-
NM_000018.4(ACADVL):c.1308C>A (p.Ile436=)	37	ACADVL	Likely benign	2142985123	RCV002082480;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127170	7127170	7127170	-
NM_000018.4(ACADVL):c.1308C>T (p.Ile436=)	37	ACADVL	Likely benign	-1	RCV002695375;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127170	7127170		-
NM_000018.4(ACADVL):c.1309A>G (p.Met437Val)	37	ACADVL	Uncertain significance	2071345754	RCV001200798;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127171	7127171	17:g.7127171A>G	-
NM_000018.4(ACADVL):c.1316dup (p.Met440fs)	37	ACADVL	Likely pathogenic	748077880	RCV000185738\|RCV001200810;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127172	7127173	17:g.7127172_7127173insG	ClinGen:CA312287	CN517202 not provided;
NM_000018.4(ACADVL):c.1310T>C (p.Met437Thr)	37	ACADVL	Pathogenic/Likely pathogenic	2071345821	RCV001200727\|RCV001814269;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|Human Phenotype Ontology:HP:0003011,Human Phenotype Ontology:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C4021745	17	7127172	7127172	17:g.7127172T>C	ClinVar:867230
NM_000018.4(ACADVL):c.1316del (p.Gly439fs)	37	ACADVL	Likely pathogenic	748077880	RCV001200809;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127173	7127173	17:g.7127173_7127173del	-
NM_000018.4(ACADVL):c.1313G>A (p.Gly438Glu)	37	ACADVL	Likely pathogenic	748450834	RCV000551302;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127175	7127175	17:g.7127175G>A	ClinGen:CA397724846	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1314G>A (p.Gly438=)	37	ACADVL	Likely benign	2142985177	RCV002183458;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127176	7127176	7127176	-
NM_000018.4(ACADVL):c.1315G>T (p.Gly439Cys)	37	ACADVL	Likely pathogenic	2071346311	RCV001233556;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127177	7127177	17:g.7127177G>T	-
NM_000018.4(ACADVL):c.1315G>C (p.Gly439Arg)	37	ACADVL	Uncertain significance	2071346311	RCV001316134;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127177	7127177	7127177	-
NM_000018.4(ACADVL):c.1316G>A (p.Gly439Asp)	37	ACADVL	Conflicting interpretations of pathogenicity	533055438	RCV000185723\|RCV000703664;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127178	7127178	17:g.7127178G>A	ClinGen:CA312270	CN517202 not provided;
NM_000018.4(ACADVL):c.1317dup (p.Met440fs)	37	ACADVL	Likely pathogenic	1567567440	RCV000731212\|RCV001200811;	N	MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127178	7127179	NC_000017.10:g.7127179dup	-
NM_000018.4(ACADVL):c.1316G>T (p.Gly439Val)	37	ACADVL	Uncertain significance	533055438	RCV001226404;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127178	7127178	17:g.7127178G>T	-
NM_000018.4(ACADVL):c.1316G>C (p.Gly439Ala)	37	ACADVL	Uncertain significance	533055438	RCV002038041;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127178	7127178	7127178	-
NM_000018.4(ACADVL):c.1318_1319dup (p.Met440fs)	37	ACADVL	Pathogenic/Likely pathogenic	-1	RCV003043075;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127178	7127179	NC_000017.10:g.7127180_7127181dup	-
NM_000018.4(ACADVL):c.1317T>A (p.Gly439=)	37	ACADVL	Likely benign	2142985210	RCV001494467;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127179	7127179	7127179	-
NM_000018.4(ACADVL):c.1317T>C (p.Gly439=)	37	ACADVL	Likely benign	2142985210	RCV002200354;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127179	7127179	7127179	-
NM_000018.4(ACADVL):c.1321G>A (p.Gly441Ser)	37	ACADVL	Uncertain significance	2071346777	RCV001200704;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127183	7127183	17:g.7127183G>A	-
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp)	37	ACADVL	Pathogenic	2309689	RCV000020072\|RCV000077903;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7127184	7127184	17:g.7127184G>A	ClinGen:CA220193,UniProtKB:P49748#VAR_000354,OMIM:609575.0009	CN517202 not provided;
NM_000018.4(ACADVL):c.1322G>C (p.Gly441Ala)	37	ACADVL	Conflicting interpretations of pathogenicity	2309689	RCV000989694;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127184	7127184	17:g.7127184G>C	-
NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg)	37	ACADVL	Conflicting interpretations of pathogenicity	886043236	RCV000327267\|RCV000673223;	N	MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127190	7127190	17:g.7127190T>G	ClinGen:CA10605275	CN169374 not specified;
NM_000018.4(ACADVL):c.1328T>C (p.Met443Thr)	37	ACADVL	Uncertain significance	886043236	RCV001934084;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127190	7127190	7127190	-
NM_000018.4(ACADVL):c.1329G>A (p.Met443Ile)	37	ACADVL	Uncertain significance	2071347136	RCV001200705;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127191	7127191	17:g.7127191G>A	-
NM_000018.4(ACADVL):c.1332G>A (p.Lys444=)	37	ACADVL	Likely pathogenic	1597534796	RCV000813712;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127194	7127194	17:g.7127194G>A	-
NM_000018.4(ACADVL):c.1332+2T>A	37	ACADVL	Uncertain significance	-1	RCV003239317;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127196	7127196		-
NM_000018.4(ACADVL):c.1332+5A>G	37	ACADVL	Uncertain significance	-1	RCV002654086;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127199	7127199	NC_000017.10:g.7127199A>G	-
NM_000018.4(ACADVL):c.1332+7G>A	37	ACADVL	Likely benign	1382340897	RCV002176920;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127201	7127201	7127201	-
NM_000018.4(ACADVL):c.1332+9C>T	37	ACADVL	Likely benign	376427620	RCV000878220;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127203	7127203	17:g.7127203C>T	-
NM_000018.4(ACADVL):c.1332+10G>A	37	ACADVL	Likely benign	763921736	RCV001500086;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127204	7127204	7127204	-
NM_000018.4(ACADVL):c.1332+10G>C	37	ACADVL	Likely benign	763921736	RCV002091507;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127204	7127204	7127204	-
NM_000018.4(ACADVL):c.1332+19C>G	37	ACADVL	Likely benign	-1	RCV002647944;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127213	7127213	NC_000017.10:g.7127213C>G	-
NM_000018.4(ACADVL):c.1332+27C>T	37	ACADVL	Likely benign	200161683	RCV000672031;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127221	7127221	17:g.7127221C>T	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1333-25T>C	37	ACADVL	Likely benign	770876053	RCV000665325;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127262	7127262	17:g.7127262T>C	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1333-17G>A	37	ACADVL	Likely benign	-1	RCV003007660;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127270	7127270	NC_000017.10:g.7127270G>A	-
NM_000018.4(ACADVL):c.1333-13G>A	37	ACADVL	Uncertain significance	774376862	RCV001200774;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127274	7127274	17:g.7127274G>A	-
NM_000018.4(ACADVL):c.1333-8T>C	37	ACADVL	Likely benign	-1	RCV002575449;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127279	7127279	NC_000017.10:g.7127279T>C	-
NM_000018.4(ACADVL):c.1333-7G>T	37	ACADVL	Likely benign	1228196483	RCV000539799;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127280	7127280	17:g.7127280G>T	ClinGen:CA624860701	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1333-7G>A	37	ACADVL	Likely benign	1228196483	RCV001469415;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127280	7127280	7127280	-
NM_000018.4(ACADVL):c.1333-7G>C	37	ACADVL	Likely benign	-1	RCV002654673;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127280	7127280	NC_000017.10:g.7127280G>C	-
NM_000018.4(ACADVL):c.1333-4C>T	37	ACADVL	Likely benign	1393726040	RCV002125693;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127283	7127283	7127283	-
NM_000018.4(ACADVL):c.1333-3T>G	37	ACADVL	Uncertain significance	1057523216	RCV001204349;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127284	7127284	17:g.7127284T>G	-
NM_000018.4(ACADVL):c.1333-2A>T	37	ACADVL	Likely pathogenic	1057517280	RCV000411741;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127285	7127285	17:g.7127285A>T	ClinGen:CA16041873	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1338T>C (p.Pro446=)	37	ACADVL	Likely benign	2142985783	RCV002158060;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127292	7127292	7127292	-
NM_000018.4(ACADVL):c.1340G>A (p.Gly447Glu)	37	ACADVL	Uncertain significance	1555528779	RCV000554531;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127294	7127294	17:g.7127294G>A	ClinGen:CA397724917	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1341A>G (p.Gly447=)	37	ACADVL	Likely benign	1484763411	RCV001426030;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127295	7127295	7127295	-
NM_000018.4(ACADVL):c.1342G>A (p.Val448Ile)	37	ACADVL	Uncertain significance	2071353533	RCV002048466;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127296	7127296	7127296	-
NM_000018.4(ACADVL):c.1342G>C (p.Val448Leu)	37	ACADVL	Uncertain significance	-1	RCV002300124;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127296	7127296	7127296	-
NM_000018.4(ACADVL):c.1345G>C (p.Glu449Gln)	37	ACADVL	Uncertain significance	398123081	RCV000077904\|RCV001200706;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127299	7127299	17:g.7127299G>C	ClinGen:CA220194	CN169374 not specified;
NM_000018.4(ACADVL):c.1346A>G (p.Glu449Gly)	37	ACADVL	Uncertain significance	765346654	RCV001200707;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127300	7127300	17:g.7127300A>G	-
NM_000018.4(ACADVL):c.1347G>A (p.Glu449=)	37	ACADVL	Likely benign	-1	RCV003117012;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127301	7127301		-
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His)	37	ACADVL	Likely pathogenic	118204016	RCV000001701\|RCV000724571\|RCV001003625;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900\|Human Phenotype Ontology:HP:0003201,MedGen:C0035410; Human Phenotype Ontology:HP:0011021,MedGen:C4023591	17	7127303	7127303	17:g.7127303G>A	ClinGen:CA251910,UniProtKB:P49748#VAR_000355,OMIM:609575.0010,OMIM:609575.0014	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1355dup (p.Arg453fs)	37	ACADVL	Likely pathogenic	1057517331	RCV000409489;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127308	7127309	NC_000017.10:g.7127309dup	ClinGen:CA16041874	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter)	37	ACADVL	Pathogenic	794727113	RCV000174654\|RCV000724448;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7127311	7127311	17:g.7127311C>T	ClinGen:CA274997	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1358G>C (p.Arg453Pro)	37	ACADVL	Uncertain significance	138058572	RCV001200708;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127312	7127312	17:g.7127312G>C	-
NM_000018.4(ACADVL):c.1360G>A (p.Asp454Asn)	37	ACADVL	Conflicting interpretations of pathogenicity	1419606204	RCV000668005;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127314	7127314	17:g.7127314G>A	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1360G>C (p.Asp454His)	37	ACADVL	Uncertain significance	1419606204	RCV001200709;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127314	7127314	17:g.7127314G>C	-
NM_000018.4(ACADVL):c.1366C>T (p.Arg456Cys)	37	ACADVL	Uncertain significance	794727111	RCV000174652\|RCV000696055;	N	MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127320	7127320	17:g.7127320C>T	ClinGen:CA240222	CN169374 not specified;
NM_000018.4(ACADVL):c.1367G>A (p.Arg456His)	37	ACADVL	Conflicting interpretations of pathogenicity	794727112	RCV000174653\|RCV000410559;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127321	7127321	17:g.7127321G>A	ClinGen:CA240224,UniProtKB:P49748#VAR_000358	CN169374 not specified;
NM_000018.4(ACADVL):c.1368dup (p.Ile457fs)	37	ACADVL	Likely pathogenic	1175359422	RCV000818697;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127321	7127322	17:g.7127321_7127322insC	-
NM_000018.4(ACADVL):c.1367G>C (p.Arg456Pro)	37	ACADVL	Uncertain significance	794727112	RCV001989479;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127321	7127321	7127321	-
NM_000018.4(ACADVL):c.1370T>C (p.Ile457Thr)	37	ACADVL	Uncertain significance	1392710608	RCV001878177;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127324	7127324	7127324	-
NM_000018.4(ACADVL):c.1372T>C (p.Phe458Leu)	37	ACADVL	Likely pathogenic	118204017	RCV000001699\|RCV001731269;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7127326	7127326	17:g.7127326T>C	ClinGen:CA251907,UniProtKB:P49748#VAR_010103,OMIM:609575.0012	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.3(ACADVL):c.1375dup	37	ACADVL	Likely pathogenic	796051916	RCV000185739\|RCV000538432;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127327	7127328	17:g.7127327_7127328insC	ClinGen:CA312288	CN517202 not provided;
NM_000018.4(ACADVL):c.1375C>T (p.Arg459Trp)	37	ACADVL	Conflicting interpretations of pathogenicity	766742117	RCV000506090\|RCV000652041;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127329	7127329	17:g.7127329C>T	ClinGen:CA312274,UniProtKB:P49748#VAR_000359	CN169374 not specified;
NM_000018.4(ACADVL):c.1375C>G (p.Arg459Gly)	37	ACADVL	Likely pathogenic	766742117	RCV001200710;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127329	7127329	17:g.7127329C>G	-
NM_000018.4(ACADVL):c.1376G>C (p.Arg459Pro)	37	ACADVL	Conflicting interpretations of pathogenicity	751995154	RCV000652030;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127330	7127330	NC_000017.10:g.7127330G>C	ClinGen:CA397724983	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1377del (p.Ile460fs)	37	ACADVL	Pathogenic	-1	RCV002667539;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127330	7127330	NC_000017.10:g.7127331del	-
NM_000018.4(ACADVL):c.1377G>C (p.Arg459=)	37	ACADVL	Likely benign	2142985989	RCV001459762;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127331	7127331	7127331	-
NM_000018.4(ACADVL):c.1380C>T (p.Ile460=)	37	ACADVL	Likely benign	2071355303	RCV001399002;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127334	7127334	7127334	-
NM_000018.4(ACADVL):c.1382T>C (p.Phe461Ser)	37	ACADVL	Uncertain significance	755432945	RCV001200711;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127336	7127336	17:g.7127336T>C	-
NM_000018.4(ACADVL):c.1384G>A (p.Glu462Lys)	37	ACADVL	Uncertain significance	2071355499	RCV001286682;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127338	7127338	7127338	-
NM_000018.4(ACADVL):c.1389dup (p.Thr464fs)	37	ACADVL	Likely pathogenic	398123082	RCV000174651\|RCV002286566;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127339	7127340	17:g.7127339_7127340insG	ClinGen:CA220196	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1389del (p.Thr464fs)	37	ACADVL	Pathogenic	398123082	RCV001994560;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127340	7127340	7127339	-
NM_000018.4(ACADVL):c.1387G>C (p.Gly463Arg)	37	ACADVL	Uncertain significance	2071355667	RCV001200712;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127341	7127341	17:g.7127341G>C	-
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu)	37	ACADVL	Conflicting interpretations of pathogenicity	200366828	RCV000522607\|RCV000809103;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127342	7127342	NC_000017.10:g.7127342G>A	ClinGen:CA8338091	CN517202 not provided;
NM_000018.4(ACADVL):c.1389G>C (p.Gly463=)	37	ACADVL	Likely benign	377305356	RCV001402127;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127343	7127343	7127343	-
NM_000018.4(ACADVL):c.1389G>A (p.Gly463=)	37	ACADVL	Likely benign	377305356	RCV002126252;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127343	7127343	7127343	-
NM_000018.4(ACADVL):c.1391C>T (p.Thr464Ile)	37	ACADVL	Uncertain significance	1555528796	RCV000531461;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127345	7127345	NC_000017.10:g.7127345C>T	ClinGen:CA397725017	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1391C>G (p.Thr464Arg)	37	ACADVL	Uncertain significance	1555528796	RCV001200757;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127345	7127345	17:g.7127345C>G	-
NM_000018.4(ACADVL):c.1395T>C (p.Asn465=)	37	ACADVL	Likely benign	1301241478	RCV002143385;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127349	7127349	7127349	-
NM_000018.4(ACADVL):c.1398C>T (p.Asp466=)	37	ACADVL	Likely benign	2142986089	RCV002113533;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127352	7127352	7127352	-
NM_000018.4(ACADVL):c.1399A>G (p.Ile467Val)	37	ACADVL	Uncertain significance	755685700	RCV001867073\|RCV002388712;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MeSH:D030342,MedGen:C0950123	17	7127353	7127353	7127353	-
NM_000018.4(ACADVL):c.1400T>A (p.Ile467Asn)	37	ACADVL	Uncertain significance	2142986109	RCV001932255;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127354	7127354	7127354	-
NM_000018.4(ACADVL):c.1406G>A (p.Arg469Gln)	37	ACADVL	Likely pathogenic	398123083	RCV000169627\|RCV000790745;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7127360	7127360	NC_000017.10:g.7127360G>A	ClinGen:CA220197,UniProtKB:P49748#VAR_000361	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1407G>A (p.Arg469=)	37	ACADVL	Likely benign	1597535653	RCV001473590;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127361	7127361	7127361	-
NM_000018.4(ACADVL):c.1408C>T (p.Leu470=)	37	ACADVL	Likely benign	1335872701	RCV001411470;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127362	7127362	7127362	-
NM_000018.4(ACADVL):c.1409del (p.Leu470fs)	37	ACADVL	Likely pathogenic	2071356603	RCV001207427;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127363	7127363	17:g.7127363_7127363del	-
NM_000018.4(ACADVL):c.1410G>C (p.Leu470=)	37	ACADVL	Likely benign	1281251073	RCV001496747;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127364	7127364	17:g.7127364G>C	-
NM_000018.4(ACADVL):c.1410G>A (p.Leu470=)	37	ACADVL	Likely benign	1281251073	RCV002097934;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127364	7127364	7127364	-
NM_000018.4(ACADVL):c.1411T>C (p.Phe471Leu)	37	ACADVL	Uncertain significance	-1	RCV003455819;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127365	7127365		-
NM_000018.4(ACADVL):c.1416G>C (p.Val472=)	37	ACADVL	Likely benign	778848546	RCV001403832;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127370	7127370	7127370	-
NM_000018.4(ACADVL):c.1417del (p.Ala473fs)	37	ACADVL	Likely pathogenic	-1	RCV003460227;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127370	7127370		-
NM_000018.4(ACADVL):c.1420C>T (p.Leu474=)	37	ACADVL	Likely benign	771882915	RCV001440113;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127374	7127374	7127374	-
NM_000018.4(ACADVL):c.1422G>A (p.Leu474=)	37	ACADVL	Likely benign	2142986233	RCV002189369;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127376	7127376	7127376	-
NM_000018.4(ACADVL):c.1427G>A (p.Gly476Asp)	37	ACADVL	Uncertain significance	2071357482	RCV001231630;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127381	7127381	17:g.7127381G>A	-
NM_000018.4(ACADVL):c.1429T>C (p.Cys477Arg)	37	ACADVL	Uncertain significance	2071357577	RCV001200758;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127383	7127383	17:g.7127383T>C	-
NM_000018.4(ACADVL):c.1430G>A (p.Cys477Tyr)	37	ACADVL	Uncertain significance	1555528803	RCV000673535;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127384	7127384	17:g.7127384G>A	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1434G>A (p.Met478Ile)	37	ACADVL	Conflicting interpretations of pathogenicity	775537775	RCV000494132\|RCV001200759\|RCV002298622;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN169374	17	7127388	7127388	NC_000017.10:g.7127388G>A	ClinGen:CA8338099
NM_000018.4(ACADVL):c.1434+2T>G	37	ACADVL	Likely pathogenic	1555528804	RCV000669283;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127390	7127390	17:g.7127390T>G	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1434+6_1434+8dup	37	ACADVL	Likely benign	-1	RCV002872569;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127393	7127394	NC_000017.10:g.7127394_7127396dup	-
NM_000018.4(ACADVL):c.1434+7C>T	37	ACADVL	Likely benign	748136425	RCV002077979;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127395	7127395	7127395	-
NM_000018.4(ACADVL):c.1434+11_1434+12del	37	ACADVL	Likely benign	1567567959	RCV001463661;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127396	7127397	7127395	-
NM_000018.4(ACADVL):c.1434+15dup	37	ACADVL	Likely benign	-1	RCV002961922;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127401	7127402	NC_000017.10:g.7127403dup	-
NM_000018.4(ACADVL):c.1434+14T>A	37	ACADVL	Conflicting interpretations of pathogenicity	202217537	RCV000174650\|RCV000246029\|RCV000723493;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN169374\|MedGen:C3661900	17	7127402	7127402	17:g.7127402T>A	ClinGen:CA274996	CN169374 not specified;
NM_000018.4(ACADVL):c.1434+14T>C	37	ACADVL	Conflicting interpretations of pathogenicity	202217537	RCV000604141\|RCV001200729;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127402	7127402	17:g.7127402T>C	ClinGen:CA8338103	CN169374 not specified;
NM_000018.4(ACADVL):c.1434+18G>A	37	ACADVL	Likely benign	-1	RCV002765406;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127406	7127406	NC_000017.10:g.7127406G>A	-
NM_000018.4(ACADVL):c.1434+19T>C	37	ACADVL	Likely benign	-1	RCV002619799;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127407	7127407	NC_000017.10:g.7127407T>C	-
NM_000018.4(ACADVL):c.1434+23G>A	37	ACADVL	Likely benign	759991740	RCV000671883;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127411	7127411	17:g.7127411G>A	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1434+24G>A	37	ACADVL	Likely benign	1555528806	RCV000670928;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127412	7127412	17:g.7127412G>A	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1434+27G>A	37	ACADVL	Likely benign	1271483942	RCV000666510;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127415	7127415	17:g.7127415G>A	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1434+38G>C	37	ACADVL	Likely benign	763704056	RCV000673589;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127426	7127426	17:g.7127426G>C	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1435-27T>A	37	ACADVL	Likely benign	1281849589	RCV001287099;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127438	7127438	7127438	-
NM_000018.4(ACADVL):c.1435-19G>A	37	ACADVL	Uncertain significance	1223218362	RCV002003357;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127446	7127446	7127446	-
NM_000018.4(ACADVL):c.1435-19G>T	37	ACADVL	Likely benign	-1	RCV002903775;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127446	7127446	NC_000017.10:g.7127446G>T	-
NM_000018.4(ACADVL):c.1435-16C>T	37	ACADVL	Likely benign	-1	RCV003002849;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127449	7127449	NC_000017.10:g.7127449C>T	-
NM_000018.4(ACADVL):c.1435-15C>T	37	ACADVL	Likely benign	548935465	RCV002073511;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127450	7127450	7127450	-
NM_000018.4(ACADVL):c.1435-11T>C	37	ACADVL	Likely benign	745620433	RCV002083386;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127454	7127454	7127454	-
NM_000018.4(ACADVL):c.1435-9C>A	37	ACADVL	Likely benign	1280800189	RCV001489105;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127456	7127456	7127456	-
NM_000018.4(ACADVL):c.1435-9C>T	37	ACADVL	Likely benign	1280800189	RCV002203137;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127456	7127456	7127456	-
NM_000018.4(ACADVL):c.1435-4A>T	37	ACADVL	Likely benign	1412310624	RCV001504663;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127461	7127461	7127461	-
NM_000018.4(ACADVL):c.1435-3T>A	37	ACADVL	Uncertain significance	-1	RCV003041514;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127462	7127462	NC_000017.10:g.7127462T>A	-
NM_000018.4(ACADVL):c.1435G>A (p.Asp479Asn)	37	ACADVL	Uncertain significance	2071362937	RCV001933771;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127465	7127465	7127465	-
NM_000018.4(ACADVL):c.1437C>T (p.Asp479=)	37	ACADVL	Likely benign	779807335	RCV001393881;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127467	7127467	7127467	-
NM_000018.4(ACADVL):c.1444_1448del (p.Lys482fs)	37	ACADVL	Pathogenic	-1	RCV003239316;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127468	7127472		-
NM_000018.4(ACADVL):c.1445A>G (p.Lys482Arg)	37	ACADVL	Uncertain significance	2142986762	RCV001899434;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127475	7127475	7127475	-
NM_000018.4(ACADVL):c.1452C>T (p.Leu484=)	37	ACADVL	Likely benign	1555528820	RCV000546226;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127482	7127482	NC_000017.10:g.7127482C>T	ClinGen:CA497694216	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1455T>C (p.Ser485=)	37	ACADVL	Likely benign	-1	RCV002605859;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127485	7127485		-
NM_000018.4(ACADVL):c.1457G>T (p.Gly486Val)	37	ACADVL	Uncertain significance	-1	RCV002932718;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127487	7127487	NC_000017.10:g.7127487G>T	-
NM_000018.4(ACADVL):c.1458G>T (p.Gly486=)	37	ACADVL	Likely benign	749425874	RCV001456389;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127488	7127488	7127488	-
NM_000018.4(ACADVL):c.1467T>G (p.Ser489Arg)	37	ACADVL	Conflicting interpretations of pathogenicity	771117714	RCV001200760\|RCV002509626;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN517202	17	7127497	7127497	17:g.7127497T>G	-
NM_000018.4(ACADVL):c.1473A>G (p.Leu491=)	37	ACADVL	Conflicting interpretations of pathogenicity	150518187	RCV000362559\|RCV000428813\|RCV001311108\|RCV002392878;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN169374\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	17	7127503	7127503	NC_000017.10:g.7127503A>G	ClinGen:CA8338126	CN169374 not specified;
NM_000018.4(ACADVL):c.1476G>A (p.Lys492=)	37	ACADVL	Likely benign	764757180	RCV002091283;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127506	7127506	7127506	-
NM_000018.4(ACADVL):c.1482C>T (p.Pro494=)	37	ACADVL	Likely benign	2071364748	RCV002209295;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127512	7127512	7127512	-
NM_000018.4(ACADVL):c.1486G>A (p.Gly496Arg)	37	ACADVL	Uncertain significance	-1	RCV003054539;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127516	7127516	NC_000017.10:g.7127516G>A	-
NM_000018.4(ACADVL):c.1490del (p.Asn497fs)	37	ACADVL	Pathogenic	-1	RCV002711599;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127519	7127519	NC_000017.10:g.7127520del	-
NM_000018.4(ACADVL):c.1494T>G (p.Ala498=)	37	ACADVL	Likely benign	756867868	RCV001391789;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127524	7127524	7127524	-
NM_000018.4(ACADVL):c.1496G>C (p.Gly499Ala)	37	ACADVL	Uncertain significance	764943140	RCV000693646;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127526	7127526	NC_000017.10:g.7127526G>C	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1496G>T (p.Gly499Val)	37	ACADVL	Uncertain significance	764943140	RCV001876909;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127526	7127526	7127526	-
NM_000018.4(ACADVL):c.1497CCT[1] (p.Leu502del)	37	ACADVL	Likely pathogenic	762619071	RCV001059445;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127527	7127529	17:g.7127527_7127529del	-
NM_000018.4(ACADVL):c.1503G>C (p.Leu501=)	37	ACADVL	Likely benign	2142987026	RCV001397728;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127533	7127533	7127533	-
NM_000018.4(ACADVL):c.1504C>G (p.Leu502Val)	37	ACADVL	Conflicting interpretations of pathogenicity	779901247	RCV000352142\|RCV000723372\|RCV003165418;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	17	7127534	7127534	17:g.7127534C>G	ClinGen:CA312277	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1505del (p.Leu502fs)	37	ACADVL	Likely pathogenic	-1	RCV002310514;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127535	7127535	7127534	-
NM_000018.4(ACADVL):c.1508del (p.Gly503fs)	37	ACADVL	Likely pathogenic	1214222702	RCV001041821;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127537	7127537	17:g.7127537_7127537del	-
NM_000018.4(ACADVL):c.1508G>C (p.Gly503Ala)	37	ACADVL	Uncertain significance	2142987050	RCV001938783;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127538	7127538	7127538	-
NM_000018.4(ACADVL):c.1510G>C (p.Glu504Gln)	37	ACADVL	Uncertain significance	376795010	RCV001926797;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127540	7127540	7127540	-
NM_000018.4(ACADVL):c.1510G>A (p.Glu504Lys)	37	ACADVL	Uncertain significance	-1	RCV002927454;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127540	7127540	NC_000017.10:g.7127540G>A	-
NM_000018.4(ACADVL):c.1515A>C (p.Ala505=)	37	ACADVL	Likely benign	781153542	RCV000917965;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127545	7127545	17:g.7127545A>C	-
NM_000018.4(ACADVL):c.1520A>T (p.Lys507Ile)	37	ACADVL	Likely pathogenic	-1	RCV002877497;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127550	7127550	NC_000017.10:g.7127550A>T	-
NM_000018.4(ACADVL):c.1522C>T (p.Gln508Ter)	37	ACADVL	Pathogenic/Likely pathogenic	-1	RCV002308456;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127552	7127552	7127552	-
NM_000018.4(ACADVL):c.1524G>C (p.Gln508His)	37	ACADVL	Uncertain significance	749332311	RCV001348036;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127554	7127554	7127554	-
NM_000018.4(ACADVL):c.1527G>A (p.Leu509=)	37	ACADVL	Likely benign	1447518560	RCV002078353;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127557	7127557	7127557	-
NM_000018.4(ACADVL):c.1530G>A (p.Arg510=)	37	ACADVL	Likely benign	2142987170	RCV002220913;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127560	7127560	7127560	-
NM_000018.4(ACADVL):c.1531C>T (p.Arg511Trp)	37	ACADVL	Conflicting interpretations of pathogenicity	771025937	RCV001000161;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127561	7127561	17:g.7127561C>T	-
NM_000018.4(ACADVL):c.1532G>A (p.Arg511Gln)	37	ACADVL	Conflicting interpretations of pathogenicity	200771970	RCV000410771\|RCV000595069;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7127562	7127562	17:g.7127562G>A	ClinGen:CA312279	CN169374 not specified;
NM_000018.4(ACADVL):c.1532G>C (p.Arg511Pro)	37	ACADVL	Uncertain significance	200771970	RCV000669087;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127562	7127562	17:g.7127562G>C	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1532+1G>A	37	ACADVL	Likely pathogenic	727503794	RCV000152740\|RCV003453143;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127563	7127563	17:g.7127563G>A	ClinGen:CA273297	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1532+2T>C	37	ACADVL	Likely pathogenic	111851815	RCV000411534;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127564	7127564	17:g.7127564T>C	ClinGen:CA16041875	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1532+6C>T	37	ACADVL	Uncertain significance	2071368248	RCV001231006;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127568	7127568	17:g.7127568C>T	-
NM_000018.4(ACADVL):c.1532+7T>C	37	ACADVL	Likely benign	534469222	RCV000616319\|RCV000672197;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127569	7127569	17:g.7127569T>C	ClinGen:CA8338141	CN169374 not specified;
NM_000018.4(ACADVL):c.1532+7T>A	37	ACADVL	Likely benign	534469222	RCV000652049;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127569	7127569	NC_000017.10:g.7127569T>A	ClinGen:CA624860722	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1532+10G>A	37	ACADVL	Likely benign	775913504	RCV000532430;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127572	7127572	NC_000017.10:g.7127572G>A	ClinGen:CA658658533	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1532+10G>C	37	ACADVL	Likely benign	775913504	RCV001393192;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127572	7127572	17:g.7127572G>C	-
NM_000018.4(ACADVL):c.1532+11G>A	37	ACADVL	Likely benign	372900326	RCV000671368;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127573	7127573	17:g.7127573G>A	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1532+20C>G	37	ACADVL	Likely benign	1291717212	RCV000599752\|RCV002065437;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127582	7127582	17:g.7127582C>G	ClinGen:CA624860724	CN169374 not specified;
NM_000018.4(ACADVL):c.1533-15C>T	37	ACADVL	Likely benign	2142987494	RCV002197279;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127625	7127625	7127625	-
NM_000018.4(ACADVL):c.1533-12T>C	37	ACADVL	Likely benign	-1	RCV003010058;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127628	7127628	NC_000017.10:g.7127628T>C	-
NM_000018.4(ACADVL):c.1533-7del	37	ACADVL	Likely benign	-1	RCV002781276;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127632	7127632	NC_000017.10:g.7127633del	-
NM_000018.4(ACADVL):c.1533-6T>C	37	ACADVL	Likely benign	-1	RCV003035800;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127634	7127634	NC_000017.10:g.7127634T>C	-
NM_000018.4(ACADVL):c.1533-4T>A	37	ACADVL	Conflicting interpretations of pathogenicity	369986567	RCV000547159\|RCV000604631;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN169374	17	7127636	7127636	17:g.7127636T>A	ClinGen:CA8338148	CN169374 not specified;
NM_000018.4(ACADVL):c.1533-3C>A	37	ACADVL	Uncertain significance	1486836969	RCV001978624;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127637	7127637	7127637	-
NM_000018.4(ACADVL):c.1533-2A>C	37	ACADVL	Likely pathogenic	996348255	RCV001200843;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127638	7127638	17:g.7127638A>C	-
NM_000018.4(ACADVL):c.1533G>A (p.Arg511=)	37	ACADVL	Likely benign	886038214	RCV000250784\|RCV001854948;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127640	7127640	17:g.7127640G>A	ClinGen:CA10587278	CN169374 not specified;
NM_000018.4(ACADVL):c.1534_1535del (p.Arg512fs)	37	ACADVL	Likely pathogenic	2071371983	RCV001200785;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127640	7127641	17:g.7127640_7127641del	-
NM_000018.4(ACADVL):c.1534C>T (p.Arg512Trp)	37	ACADVL	Uncertain significance	371316167	RCV000808814\|RCV002537298;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MeSH:D030342,MedGen:C0950123	17	7127641	7127641	17:g.7127641C>T	-
NM_000018.4(ACADVL):c.1535G>A (p.Arg512Gln)	37	ACADVL	Uncertain significance	1363658463	RCV001508432\|RCV002564243;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127642	7127642	7127642	-
NM_000018.4(ACADVL):c.1536G>A (p.Arg512=)	37	ACADVL	Likely benign	-1	RCV003085520;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127643	7127643		-
NM_000018.4(ACADVL):c.1536G>C (p.Arg512=)	37	ACADVL	Likely benign	-1	RCV002876185;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127643	7127643		-
NM_000018.4(ACADVL):c.1538C>A (p.Ala513Glu)	37	ACADVL	Uncertain significance	766003820	RCV001200761;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127645	7127645	17:g.7127645C>A	-
NM_000018.4(ACADVL):c.1538C>G (p.Ala513Gly)	37	ACADVL	Uncertain significance	766003820	RCV001286597;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127645	7127645	7127645	-
NM_000018.4(ACADVL):c.1540G>A (p.Gly514Arg)	37	ACADVL	Conflicting interpretations of pathogenicity	370282954	RCV001802356\|RCV003230697;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN169374	17	7127647	7127647	7127647	-
NM_000018.4(ACADVL):c.1540G>C (p.Gly514Arg)	37	ACADVL	Likely pathogenic	370282954	RCV002042935;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127647	7127647	7127647	-
NM_000018.4(ACADVL):c.1542_1543insA (p.Leu515fs)	37	ACADVL	Likely pathogenic	-1	RCV002309010;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127649	7127650	7127649	-
NM_000018.4(ACADVL):c.1551C>T (p.Ser517=)	37	ACADVL	Likely benign	926496616	RCV002177809;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127658	7127658	7127658	-
NM_000018.4(ACADVL):c.1552G>A (p.Gly518Ser)	37	ACADVL	Uncertain significance	374507980	RCV000508272\|RCV001274804\|RCV003441900;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7127659	7127659	17:g.7127659G>A	ClinGen:CA8338152	CN169374 not specified;
NM_000018.4(ACADVL):c.1552G>C (p.Gly518Arg)	37	ACADVL	Uncertain significance	-1	RCV003017476;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127659	7127659	NC_000017.10:g.7127659G>C	-
NM_000018.4(ACADVL):c.1555C>G (p.Leu519Val)	37	ACADVL	Uncertain significance	781063725	RCV002038541;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127662	7127662	7127662	-
NM_000018.4(ACADVL):c.1557del (p.Ser520fs)	37	ACADVL	Likely pathogenic	2071373150	RCV001200844;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127664	7127664	17:g.7127664_7127664del	-
NM_000018.4(ACADVL):c.1557G>A (p.Leu519=)	37	ACADVL	Likely benign	-1	RCV002894007;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127664	7127664		-
NM_000018.4(ACADVL):c.1566C>T (p.Ser522=)	37	ACADVL	Likely benign	371654348	RCV001499179\|RCV002405182;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MeSH:D030342,MedGen:C0950123	17	7127673	7127673	7127673	-
NM_000018.4(ACADVL):c.1567G>A (p.Gly523Arg)	37	ACADVL	Uncertain significance	139425622	RCV000272698\|RCV000370922\|RCV000725179\|RCV002519124;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN169374\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	17	7127674	7127674	17:g.7127674G>A	ClinGen:CA8338154	CN169374 not specified;
NM_000018.4(ACADVL):c.1569A>G (p.Gly523=)	37	ACADVL	Likely benign	779048354	RCV000434195\|RCV001491929;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127676	7127676	17:g.7127676A>G	ClinGen:CA8338156	CN169374 not specified;
NM_000018.4(ACADVL):c.1575C>A (p.Val525=)	37	ACADVL	Conflicting interpretations of pathogenicity	745996278	RCV000966526\|RCV002391010\|RCV003311926;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MeSH:D030342,MedGen:C0950123\|MedGen:C3661900	17	7127682	7127682	17:g.7127682C>A	-
NM_000018.4(ACADVL):c.1578C>T (p.His526=)	37	ACADVL	Uncertain significance	376504514	RCV001122929;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127685	7127685	17:g.7127685C>T	-
NM_000018.4(ACADVL):c.1580C>T (p.Pro527Leu)	37	ACADVL	Uncertain significance	-1	RCV003139566;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127687	7127687	NC_000017.10:g.7127687C>T	-
NM_000018.4(ACADVL):c.1581G>A (p.Pro527=)	37	ACADVL	Conflicting interpretations of pathogenicity	149436747	RCV000309125\|RCV000612544\|RCV002402045\|RCV003221917;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN169374\|MeSH:D030342,MedGen:C0950123\|MedGen:C3661900	17	7127688	7127688	NC_000017.10:g.7127688G>A	ClinGen:CA8338160	CN169374 not specified;
NM_000018.4(ACADVL):c.1585T>C (p.Leu529=)	37	ACADVL	Likely benign	2142987882	RCV001489041;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127692	7127692	7127692	-
NM_000018.4(ACADVL):c.1587G>T (p.Leu529Phe)	37	ACADVL	Pathogenic	2142987900	RCV001939664;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127694	7127694	7127694	-
NM_000018.4(ACADVL):c.1593dup (p.Ser532fs)	37	ACADVL	Likely pathogenic	1060499596	RCV000477936;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127698	7127699	NC_000017.10:g.7127700dup	ClinGen:CA16616934	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1592G>A (p.Arg531Gln)	37	ACADVL	Uncertain significance	772763960	RCV001944804;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127699	7127699	7127699	-
NM_000018.4(ACADVL):c.1595G>A (p.Ser532Asn)	37	ACADVL	Uncertain significance	1453818885	RCV001060748;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127702	7127702	17:g.7127702G>A	-
NM_000018.4(ACADVL):c.1599C>T (p.Gly533=)	37	ACADVL	Uncertain significance	779770406	RCV001309847\|RCV001760376;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN517202	17	7127706	7127706	7127706	-
NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys)	37	ACADVL	Conflicting interpretations of pathogenicity	2230180	RCV000020074\|RCV000077907\|RCV003421925;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN169374\|MedGen:C3661900	17	7127707	7127707	17:g.7127707G>A	ClinGen:CA285289,UniProtKB:P49748#VAR_010105	CN169374 not specified;
NM_000018.4(ACADVL):c.1605+1G>C	37	ACADVL	Pathogenic	2142988018	RCV001945962;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127713	7127713	7127713	-
NM_000018.4(ACADVL):c.1605+1G>T	37	ACADVL	Pathogenic	2142988018	RCV001951405;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127713	7127713	7127713	-
NM_000018.4(ACADVL):c.1605+2T>C	37	ACADVL	Likely pathogenic	1597537351	RCV000812878;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127714	7127714	17:g.7127714T>C	-
NM_000018.4(ACADVL):c.1605+2T>A	37	ACADVL	Likely pathogenic	1597537351	RCV001200786;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127714	7127714	17:g.7127714T>A	-
NM_000018.4(ACADVL):c.1605+3A>G	37	ACADVL	Uncertain significance	759274087	RCV001200776;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127715	7127715	17:g.7127715A>G	-
NM_000018.4(ACADVL):c.1605+5_1605+6inv	37	ACADVL	Uncertain significance	-1	RCV002654798;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127717	7127718	NC_000017.10:g.7127717_7127718inv	-
NM_000018.4(ACADVL):c.1605+6T>C	37	ACADVL	Benign	17671352	RCV000077908\|RCV000169539;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127718	7127718	17:g.7127718T>C	ClinGen:CA274404	CN169374 not specified;
NM_000018.4(ACADVL):c.1605+6_1605+7inv	37	ACADVL	Conflicting interpretations of pathogenicity	-1	RCV000484410\|RCV001851227;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127718	7127719	NC_000017.10:g.7127718_7127719inv	ClinGen:CA16620601	CN169374 not specified;
NM_000018.4(ACADVL):c.1605+6_1605+7delinsCC	37	ACADVL	Uncertain significance	1064795676	RCV001928437;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127718	7127719	7127718	-
NM_000018.4(ACADVL):c.1605+7G>C	37	ACADVL	Likely benign	572010910	RCV000912405\|RCV001274805;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127719	7127719	17:g.7127719G>C	-
NM_000018.4(ACADVL):c.1605+7G>A	37	ACADVL	Conflicting interpretations of pathogenicity	572010910	RCV000939802\|RCV001091166;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7127719	7127719	17:g.7127719G>A	-
NM_000018.4(ACADVL):c.1605+8G>A	37	ACADVL	Likely benign	1329414728	RCV002145757;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127720	7127720	7127720	-
NM_000018.4(ACADVL):c.1605+9C>T	37	ACADVL	Uncertain significance	1370192669	RCV002050418;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127721	7127721	7127721	-
NM_000018.4(ACADVL):c.1605+11A>T	37	ACADVL	Likely benign	-1	RCV002867056;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127723	7127723	NC_000017.10:g.7127723A>T	-
NM_000018.4(ACADVL):c.1605+12G>A	37	ACADVL	Likely benign	-1	RCV002740631;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127724	7127724	NC_000017.10:g.7127724G>A	-
NM_000018.4(ACADVL):c.1605+13G>A	37	ACADVL	Likely benign	-1	RCV002756838;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127725	7127725	NC_000017.10:g.7127725G>A	-
NM_000018.4(ACADVL):c.1605+15G>T	37	ACADVL	Likely benign	-1	RCV003110440;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127727	7127727	NC_000017.10:g.7127727G>T	-
NM_000018.4(ACADVL):c.1605+22A>G	37	ACADVL	Likely benign	1052646012	RCV000671483;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127734	7127734	17:g.7127734A>G	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1606-42C>T	37	ACADVL	Likely benign	372357967	RCV000671541;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127757	7127757	17:g.7127757C>T	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1606-42C>G	37	ACADVL	Likely benign	372357967	RCV000672032;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127757	7127757	17:g.7127757C>G	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1606-36G>A	37	ACADVL	Likely benign	890862631	RCV000673252;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127763	7127763	17:g.7127763G>A	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1606-28G>A	37	ACADVL	Likely benign	773931227	RCV000673503;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127771	7127771	17:g.7127771G>A	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1606-22C>T	37	ACADVL	Conflicting interpretations of pathogenicity	370303265	RCV000506906\|RCV000671330;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127777	7127777	17:g.7127777C>T	ClinGen:CA8338184	CN169374 not specified;
NM_000018.4(ACADVL):c.1606-10A>C	37	ACADVL	Uncertain significance	2071381723	RCV001200775;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127789	7127789	17:g.7127789A>C	-
NM_000018.4(ACADVL):c.1606-6C>T	37	ACADVL	Likely benign	764055292	RCV002106670;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127793	7127793	7127793	-
NM_000018.4(ACADVL):c.1606-3_1606-2del	37	ACADVL	Pathogenic	-1	RCV002472387;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127796	7127797	NC_000017.10:g.7127796_7127797del	-
NM_000018.4(ACADVL):c.1606-2A>C	37	ACADVL	Likely pathogenic	113467582	RCV000671155;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127797	7127797	17:g.7127797A>C	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1606-1G>A	37	ACADVL	Likely pathogenic	1057517386	RCV000411804;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127798	7127798	17:g.7127798G>A	ClinGen:CA16041876	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1611_1627dup (p.Phe543fs)	37	ACADVL	Likely pathogenic	-1	RCV001050363;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127798	7127799	17:g.7127798_7127799insGCAGTACGGGCTCTGGA	-
NM_000018.4(ACADVL):c.1612del (p.Arg538fs)	37	ACADVL	Likely pathogenic	1555528937	RCV000522938\|RCV003464115;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127805	7127805	NC_000017.10:g.7127805del	ClinGen:CA658658534
NM_000018.4(ACADVL):c.1612C>T (p.Arg538Trp)	37	ACADVL	Uncertain significance	192904909	RCV001200777\|RCV001559434;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7127805	7127805	17:g.7127805C>T	-
NM_000018.4(ACADVL):c.1613G>C (p.Arg538Pro)	37	ACADVL	Conflicting interpretations of pathogenicity	201350598	RCV000224776\|RCV001200783;	N	MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127806	7127806	17:g.7127806G>C	ClinGen:CA8338191	CN517202 not provided;
NM_000018.4(ACADVL):c.1613G>A (p.Arg538Gln)	37	ACADVL	Conflicting interpretations of pathogenicity	201350598	RCV000652027\|RCV003303075;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MeSH:D030342,MedGen:C0950123	17	7127806	7127806	17:g.7127806G>A	ClinGen:CA8338192	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1614G>A (p.Arg538=)	37	ACADVL	Likely benign	144450894	RCV001494814;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127807	7127807	7127807	-
NM_000018.4(ACADVL):c.1616C>A (p.Ala539Asp)	37	ACADVL	Conflicting interpretations of pathogenicity	781613690	RCV001200762\|RCV001731917;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN517202	17	7127809	7127809	NC_000017.10:g.7127809C>A	-
NM_000018.4(ACADVL):c.1616C>T (p.Ala539Val)	37	ACADVL	Uncertain significance	-1	RCV003046432;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127809	7127809	NC_000017.10:g.7127809C>T	-
NM_000018.4(ACADVL):c.1617T>C (p.Ala539=)	37	ACADVL	Uncertain significance	1555528948	RCV000668391;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127810	7127810	17:g.7127810T>C	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1621G>A (p.Glu541Lys)	37	ACADVL	Uncertain significance	1350421513	RCV001873952;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127814	7127814	7127814	-
NM_000018.4(ACADVL):c.1623G>A (p.Glu541=)	37	ACADVL	Likely benign	-1	RCV002643523;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127816	7127816		-
NM_000018.4(ACADVL):c.1630_1645del (p.Ala544fs)	37	ACADVL	Likely pathogenic	1131691553	RCV000493543\|RCV001785638;	N	MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127823	7127838	17:g.7127823_7127838del	ClinGen:CA624860771	CN517202 not provided;
NM_000018.4(ACADVL):c.1630G>A (p.Ala544Thr)	37	ACADVL	Uncertain significance	-1	RCV002843433;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127823	7127823	NC_000017.10:g.7127823G>A	-
NM_000018.4(ACADVL):c.1638G>C (p.Val546=)	37	ACADVL	Likely benign	2142988749	RCV001436460;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127831	7127831	7127831	-
NM_000018.4(ACADVL):c.1639G>A (p.Val547Met)	37	ACADVL	Likely pathogenic	2071384107	RCV001246701;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127832	7127832	17:g.7127832G>A	-
NM_000018.4(ACADVL):c.1641G>A (p.Val547=)	37	ACADVL	Likely benign	-1	RCV002810558;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127834	7127834		-
NM_000018.4(ACADVL):c.1643A>T (p.Glu548Val)	37	ACADVL	Uncertain significance	2071384243	RCV001200763;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127836	7127836	17:g.7127836A>T	-
NM_000018.4(ACADVL):c.1644G>A (p.Glu548=)	37	ACADVL	Likely benign	2071384402	RCV002105073;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127837	7127837	7127837	-
NM_000018.4(ACADVL):c.1650G>A (p.Lys550=)	37	ACADVL	Likely benign	-1	RCV002780562;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127843	7127843		-
NM_000018.4(ACADVL):c.1652_1653dup (p.Ile552Ter)	37	ACADVL	Pathogenic	-1	RCV003041830;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127844	7127845	NC_000017.10:g.7127845_7127846dup	-
NM_000018.4(ACADVL):c.1659del (p.Lys553fs)	37	ACADVL	Pathogenic	-1	RCV002581887;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127849	7127849	NC_000017.10:g.7127852del	-
NM_000018.4(ACADVL):c.1657A>C (p.Lys553Gln)	37	ACADVL	Uncertain significance	1555528957	RCV000545827;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127850	7127850	NC_000017.10:g.7127850A>C	ClinGen:CA397725580	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1663AAG[1] (p.Lys556del)	37	ACADVL	Uncertain significance	866424446	RCV001200764;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127856	7127858	17:g.7127856_7127858del	-
NM_000018.4(ACADVL):c.1664A>G (p.Lys555Arg)	37	ACADVL	Uncertain significance	1231882461	RCV001233819;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127857	7127857	17:g.7127857A>G	-
NM_000018.4(ACADVL):c.1668G>A (p.Lys556=)	37	ACADVL	Likely benign	1295605212	RCV001463773;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127861	7127861	7127861	-
NM_000018.4(ACADVL):c.1670G>A (p.Gly557Glu)	37	ACADVL	Uncertain significance	773842959	RCV001884896;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127863	7127863	7127863	-
NM_000018.4(ACADVL):c.1673T>C (p.Ile558Thr)	37	ACADVL	Uncertain significance	1256129137	RCV001870622\|RCV003416520;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7127866	7127866	7127866	-
NM_000018.4(ACADVL):c.1678+3_1678+6del	37	ACADVL	Uncertain significance	759135941	RCV000801366\|RCV002225734;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN517202	17	7127871	7127874	17:g.7127871_7127874del	-
NM_000018.4(ACADVL):c.1678+1G>T	37	ACADVL	Likely pathogenic	-1	RCV003460267;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127872	7127872		-
NM_000018.4(ACADVL):c.1678+4A>T	37	ACADVL	Uncertain significance	1057518417	RCV000412992\|RCV001049810\|RCV002275020;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7127875	7127875	17:g.7127875A>T	ClinGen:CA16043043	CN169374 not specified;
NM_000018.4(ACADVL):c.1678+7G>A	37	ACADVL	Likely benign	771685940	RCV002158647;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127878	7127878	7127878	-
NM_000018.4(ACADVL):c.1678+9_1678+10delinsCG	37	ACADVL	Likely benign	2142989035	RCV001459748;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127880	7127881	7127880	-
NM_000018.4(ACADVL):c.1678+9G>A	37	ACADVL	Likely benign	775156404	RCV001503308;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127880	7127880	7127880	-
NM_000018.4(ACADVL):c.1678+9_1678+10delinsAG	37	ACADVL	Likely benign	2142989035	RCV001487943;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127880	7127881	7127880	-
NM_000018.4(ACADVL):c.1678+15C>T	37	ACADVL	Conflicting interpretations of pathogenicity	371402802	RCV000616516\|RCV000671363;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127886	7127886	17:g.7127886C>T	ClinGen:CA8338207	CN169374 not specified;
NM_000018.4(ACADVL):c.1678+16A>G	37	ACADVL	Likely benign	768350660	RCV002166994;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127887	7127887	7127887	-
NM_000018.4(ACADVL):c.1678+17C>G	37	ACADVL	Likely benign	776565824	RCV002157440;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127888	7127888	7127888	-
NM_000018.4(ACADVL):c.1678+17C>T	37	ACADVL	Likely benign	-1	RCV002952529;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127888	7127888	NC_000017.10:g.7127888C>T	-
NM_000018.4(ACADVL):c.1678+22C>T	37	ACADVL	Likely benign	761650394	RCV000671478;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127893	7127893	17:g.7127893C>T	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1678+23C>T	37	ACADVL	Conflicting interpretations of pathogenicity	147546456	RCV000652047\|RCV001559679;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7127894	7127894	NC_000017.10:g.7127894C>T	ClinGen:CA8338211	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1678+24G>A	37	ACADVL	Likely benign	751665756	RCV000671235;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127895	7127895	17:g.7127895G>A	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1678+27C>A	37	ACADVL	Likely benign	759729168	RCV000672175;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127898	7127898	17:g.7127898C>A	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1678+29T>C	37	ACADVL	Likely benign	1023643662	RCV001001135;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127900	7127900	17:g.7127900T>C	-
NM_000018.4(ACADVL):c.1678+39C>G	37	ACADVL	Likely benign	377062362	RCV000671486;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127910	7127910	17:g.7127910C>G	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1679-40T>G	37	ACADVL	Uncertain significance	-1	RCV003152869;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127921	7127921		-
NM_000018.4(ACADVL):c.1679-34C>T	37	ACADVL	Likely benign	779439503	RCV000671353;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127927	7127927	17:g.7127927C>T	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1679-16C>G	37	ACADVL	Likely benign	-1	RCV002843729;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127945	7127945	NC_000017.10:g.7127945C>G	-
NM_000018.4(ACADVL):c.1679-13A>C	37	ACADVL	Likely benign	768421738	RCV002152325;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127948	7127948	7127948	-
NM_000018.4(ACADVL):c.1679-7C>T	37	ACADVL	Likely benign	776276526	RCV001457296;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127954	7127954	7127954	-
NM_000018.4(ACADVL):c.1679-6G>A	37	ACADVL	Likely pathogenic	113994171	RCV000031857\|RCV000185730;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7127955	7127955	17:g.7127955G>A	ClinGen:CA312281	CN517202 not provided;
NM_000018.4(ACADVL):c.1679-5del	37	ACADVL	Conflicting interpretations of pathogenicity	1555528999	RCV000666022;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127955	7127955	17:g.7127955_7127955del	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1679-5G>A	37	ACADVL	Likely benign	1302758825	RCV001496757;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127956	7127956	17:g.7127956G>A	-
NM_000018.4(ACADVL):c.1682_1701del (p.Glu561fs)	37	ACADVL	Pathogenic/Likely pathogenic	-1	RCV002791130;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127963	7127982	NC_000017.10:g.7127964_7127983del	-
NM_000018.4(ACADVL):c.1683A>G (p.Glu561=)	37	ACADVL	Likely benign	1597539259	RCV001418477;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127965	7127965	17:g.7127965A>G	-
NM_000018.4(ACADVL):c.1684_1685del (p.Gln562fs)	37	ACADVL	Likely pathogenic	2071393587	RCV001200787;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127965	7127966	17:g.7127965_7127966del	-
NM_000018.4(ACADVL):c.1684C>G (p.Gln562Glu)	37	ACADVL	Uncertain significance	370292684	RCV002040919;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127966	7127966	7127966	-
NM_000018.4(ACADVL):c.1693C>T (p.Leu565=)	37	ACADVL	Likely benign	2142989804	RCV002091106;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127975	7127975	7127975	-
NM_000018.4(ACADVL):c.1695G>T (p.Leu565=)	37	ACADVL	Likely benign	1279657316	RCV001440254;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127977	7127977	7127977	-
NM_000018.4(ACADVL):c.1698G>A (p.Gln566=)	37	ACADVL	Uncertain significance	-1	RCV002862498;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127980	7127980		-
NM_000018.4(ACADVL):c.1699C>T (p.Arg567Trp)	37	ACADVL	Uncertain significance	864321651	RCV000203523;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127981	7127981	17:g.7127981C>T	ClinGen:CA279923	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln)	37	ACADVL	Pathogenic/Likely pathogenic	398123084	RCV000259048\|RCV000813614;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127982	7127982	NC_000017.10:g.7127982G>A	ClinGen:CA285290	CN169374 not specified;
NM_000018.4(ACADVL):c.1701_1702delinsAG (p.Leu568Val)	37	ACADVL	Uncertain significance	2142989836	RCV001998822;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127983	7127984	7127983	-
NM_000018.4(ACADVL):c.1704G>A (p.Leu568=)	37	ACADVL	Likely benign	2142989842	RCV002183932;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127986	7127986	7127986	-
NM_000018.4(ACADVL):c.1707A>C (p.Ala569=)	37	ACADVL	Likely benign	-1	RCV003013435;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127989	7127989		-
NM_000018.4(ACADVL):c.1708G>T (p.Asp570Tyr)	37	ACADVL	Uncertain significance	2071394443	RCV001200765;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127990	7127990	17:g.7127990G>T	-
NM_000018.4(ACADVL):c.1714dup (p.Ala572fs)	37	ACADVL	Likely pathogenic	1555529004	RCV000670489;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127992	7127993	17:g.7127992_7127993insG	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1710C>T (p.Asp570=)	37	ACADVL	Likely benign	759638134	RCV001439982;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127992	7127992	7127992	-
NM_000018.4(ACADVL):c.1710C>A (p.Asp570Glu)	37	ACADVL	Uncertain significance	759638134	RCV001874859;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127992	7127992	7127992	-
NM_000018.4(ACADVL):c.1711G>A (p.Gly571Arg)	37	ACADVL	Conflicting interpretations of pathogenicity	398123085	RCV000077910\|RCV001200766;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127993	7127993	17:g.7127993G>A	ClinGen:CA220198	CN169374 not specified;
NM_000018.4(ACADVL):c.1716C>T (p.Ala572=)	37	ACADVL	Likely benign	2142989897	RCV002141069;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127998	7127998	7127998	-
NM_000018.4(ACADVL):c.1719C>T (p.Ile573=)	37	ACADVL	Likely benign	372452333	RCV001397036;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128001	7128001	7128001	-
NM_000018.4(ACADVL):c.1719C>G (p.Ile573Met)	37	ACADVL	Uncertain significance	-1	RCV002912864;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128001	7128001	NC_000017.10:g.7128001C>G	-
NM_000018.4(ACADVL):c.1720G>A (p.Asp574Asn)	37	ACADVL	Uncertain significance	-1	RCV002633972;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128002	7128002	NC_000017.10:g.7128002G>A	-
NM_000018.4(ACADVL):c.1723dup (p.Leu575fs)	37	ACADVL	Likely pathogenic	2071395312	RCV001200788;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128003	7128004	17:g.7128003_7128004insC	-
NM_000018.4(ACADVL):c.1722C>T (p.Asp574=)	37	ACADVL	Likely benign	2142989956	RCV001483986;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128004	7128004	7128004	-
NM_000018.4(ACADVL):c.1730_1740del (p.Ala577fs)	37	ACADVL	Likely pathogenic	1057518411	RCV000413684\|RCV003168603;	N	MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128010	7128020	NC_000017.10:g.7128012_7128022del	ClinGen:CA16043045
NM_000018.4(ACADVL):c.1730_1733dup (p.Met578fs)	37	ACADVL	Likely pathogenic	2071395559	RCV001199839;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128011	7128012	17:g.7128011_7128012insCCAT	-
NM_000018.4(ACADVL):c.1732A>G (p.Met578Val)	37	ACADVL	Uncertain significance	-1	RCV002746230;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128014	7128014	NC_000017.10:g.7128014A>G	-
NM_000018.4(ACADVL):c.1733T>C (p.Met578Thr)	37	ACADVL	Uncertain significance	375806217	RCV000669184\|RCV000723595\|RCV001804831;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900\|MedGen:CN169374	17	7128015	7128015	17:g.7128015T>C	ClinGen:CA220200	CN169374 not specified;
NM_000018.4(ACADVL):c.1736del (p.Val579fs)	37	ACADVL	Pathogenic	-1	RCV002953342;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128018	7128018	NC_000017.10:g.7128018del	-
NM_000018.4(ACADVL):c.1739_1751del (p.Val580fs)	37	ACADVL	Pathogenic	2142990005	RCV001956110;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128020	7128032	7128019	-
NM_000018.4(ACADVL):c.1744C>T (p.Leu582Phe)	37	ACADVL	Uncertain significance	1466587776	RCV001200713;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128026	7128026	17:g.7128026C>T	-
NM_000018.4(ACADVL):c.1745T>C (p.Leu582Pro)	37	ACADVL	Uncertain significance	2142990030	RCV001946509;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128027	7128027	7128027	-
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp)	37	ACADVL	Conflicting interpretations of pathogenicity	1085307648	RCV000489971\|RCV000675075\|RCV003409673;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|	17	7128030	7128030	17:g.7128030C>G	ClinGen:CA397725790	CN517202 not provided;
NM_000018.4(ACADVL):c.1748C>T (p.Ser583Leu)	37	ACADVL	Uncertain significance	1085307648	RCV000665031;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128030	7128030	17:g.7128030C>T	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1749G>A (p.Ser583=)	37	ACADVL	Likely benign	771471327	RCV001444836;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128031	7128031	7128031	-
NM_000018.4(ACADVL):c.1751G>C (p.Arg584Thr)	37	ACADVL	Uncertain significance	754123613	RCV001200714;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128033	7128033	17:g.7128033G>C	-
NM_000018.4(ACADVL):c.1751G>A (p.Arg584Lys)	37	ACADVL	Uncertain significance	-1	RCV003139564;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128033	7128033	NC_000017.10:g.7128033G>A	-
NM_000018.4(ACADVL):c.1751+1G>A	37	ACADVL	Likely pathogenic	1567569262	RCV000761524;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128034	7128034	NC_000017.10:g.7128034G>A	-
NM_000018.4(ACADVL):c.1751+2T>C	37	ACADVL	Likely pathogenic	1597539537	RCV000793280;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128035	7128035	17:g.7128035T>C	-
NM_000018.4(ACADVL):c.1751+2T>A	37	ACADVL	Likely pathogenic	1597539537	RCV001988268;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128035	7128035	7128035	-
NM_000018.4(ACADVL):c.1751+7_1751+9del	37	ACADVL	Likely benign	-1	RCV002823678;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128036	7128038	NC_000017.10:g.7128037AGG[1]	-
NM_000018.4(ACADVL):c.1751+7A>T	37	ACADVL	Likely benign	1438741226	RCV001392280;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128040	7128040	7128040	-
NM_000018.4(ACADVL):c.1751+9G>C	37	ACADVL	Likely benign	-1	RCV003020209;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128042	7128042	NC_000017.10:g.7128042G>C	-
NM_000018.4(ACADVL):c.1751+12G>A	37	ACADVL	Likely benign	1380275062	RCV002087621;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128045	7128045	7128045	-
NM_000018.4(ACADVL):c.1751+14C>T	37	ACADVL	Uncertain significance	-1	RCV003030913;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128047	7128047	NC_000017.10:g.7128047C>T	-
NM_000018.4(ACADVL):c.1751+16G>T	37	ACADVL	Likely benign	-1	RCV002603337;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128049	7128049	NC_000017.10:g.7128049G>T	-
NM_000018.4(ACADVL):c.1751+16G>C	37	ACADVL	Likely benign	-1	RCV003054725;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128049	7128049	NC_000017.10:g.7128049G>C	-
NM_000018.4(ACADVL):c.1751+18G>A	37	ACADVL	Conflicting interpretations of pathogenicity	528002997	RCV000432937\|RCV000671356;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128051	7128051	17:g.7128051G>A	ClinGen:CA8338238	CN169374 not specified;
NM_000018.4(ACADVL):c.1751+30C>T	37	ACADVL	Likely benign	757837505	RCV000671352;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128063	7128063	17:g.7128063C>T	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1751+46C>G	37	ACADVL	Likely benign	375203448	RCV000671348;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128079	7128079	17:g.7128079C>G	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1752-36G>A	37	ACADVL	Likely benign	200709964	RCV000671364\|RCV001797123;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7128092	7128092	17:g.7128092G>A	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1752-33C>T	37	ACADVL	Likely benign	760851448	RCV000671481;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128095	7128095	17:g.7128095C>T	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1752-32_1752-31del	37	ACADVL	Likely benign	758750087	RCV000671570;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128096	7128097	17:g.7128096_7128097del	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1752-23T>C	37	ACADVL	Likely benign	368009800	RCV000671666;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128105	7128105	17:g.7128105T>C	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1752-20C>A	37	ACADVL	Likely benign	-1	RCV003034284;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128108	7128108	NC_000017.10:g.7128108C>A	-
NM_000018.4(ACADVL):c.1752-19A>G	37	ACADVL	Likely benign	-1	RCV003087108;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128109	7128109	NC_000017.10:g.7128109A>G	-
NM_000018.4(ACADVL):c.1752-17C>T	37	ACADVL	Likely benign	750855741	RCV001972583;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128111	7128111	7128111	-
NM_000018.4(ACADVL):c.1752-15C>G	37	ACADVL	Likely benign	-1	RCV002810700;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128113	7128113	NC_000017.10:g.7128113C>G	-
NM_000018.4(ACADVL):c.1752-10T>C	37	ACADVL	Likely benign	-1	RCV002872446;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128118	7128118	NC_000017.10:g.7128118T>C	-
NM_000018.4(ACADVL):c.1752-3_1755del	37	ACADVL	Pathogenic	2071401309	RCV001200789;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128124	7128130	17:g.7128124_7128130del	-
NM_000018.4(ACADVL):c.1752-4C>T	37	ACADVL	Likely benign	-1	RCV003061390;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128124	7128124	NC_000017.10:g.7128124C>T	-
NM_000018.4(ACADVL):c.1752-2del	37	ACADVL	Likely pathogenic	1555529044	RCV000652039;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128126	7128126	NC_000017.10:g.7128126del	ClinGen:CA658798687	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1752-1G>A	37	ACADVL	Pathogenic	2142990593	RCV002249223;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128127	7128127	7128127	-
NM_000018.4(ACADVL):c.1754C>T (p.Ala585Val)	37	ACADVL	Uncertain significance	374729641	RCV000264459\|RCV000383480\|RCV002518985;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	17	7128130	7128130	17:g.7128130C>T	ClinGen:CA8338262	CN169374 not specified;
NM_000018.4(ACADVL):c.1754C>A (p.Ala585Asp)	37	ACADVL	Uncertain significance	374729641	RCV001880509;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128130	7128130	7128130	-
NM_000018.4(ACADVL):c.1755C>T (p.Ala585=)	37	ACADVL	Likely benign	886038215	RCV000246152\|RCV002057274;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128131	7128131	17:g.7128131C>T	ClinGen:CA10587279	CN169374 not specified;
NM_000018.4(ACADVL):c.1760G>A (p.Arg587Lys)	37	ACADVL	Uncertain significance	-1	RCV002624951;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128136	7128136	NC_000017.10:g.7128136G>A	-
NM_000018.4(ACADVL):c.1762T>C (p.Ser588Pro)	37	ACADVL	Uncertain significance	780655964	RCV001214979;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128138	7128138	17:g.7128138T>C	-
NM_000018.4(ACADVL):c.1765del (p.Ser588_Leu589insTer)	37	ACADVL	Likely pathogenic	1057516226	RCV000411935;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128139	7128139	NC_000017.10:g.7128141del	ClinGen:CA16041877	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1763C>T (p.Ser588Phe)	37	ACADVL	Uncertain significance	2071402000	RCV001200715;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128139	7128139	17:g.7128139C>T	-
NM_000018.4(ACADVL):c.1764C>T (p.Ser588=)	37	ACADVL	Likely benign	-1	RCV002633484;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128140	7128140		-
NM_000018.4(ACADVL):c.1765C>T (p.Leu589=)	37	ACADVL	Likely benign	533344677	RCV001399813;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128141	7128141	17:g.7128141C>T	-
NM_000018.4(ACADVL):c.1770_1773del (p.Ser590fs)	37	ACADVL	Pathogenic	1555529048	RCV000673234;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128142	7128145	17:g.7128142_7128145del	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1766T>C (p.Leu589Pro)	37	ACADVL	Uncertain significance	1567569494	RCV000701465;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128142	7128142	17:g.7128142T>C	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1769G>T (p.Ser590Ile)	37	ACADVL	Uncertain significance	-1	RCV003072981;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128145	7128145	NC_000017.10:g.7128145G>T	-
NM_000018.4(ACADVL):c.1769G>A (p.Ser590Asn)	37	ACADVL	Uncertain significance	-1	RCV002574811;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128145	7128145	NC_000017.10:g.7128145G>A	-
NM_000018.4(ACADVL):c.1770T>C (p.Ser590=)	37	ACADVL	Likely benign	-1	RCV003059746;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128146	7128146		-
NM_000018.4(ACADVL):c.1777C>T (p.His593Tyr)	37	ACADVL	Uncertain significance	-1	RCV002644180;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128153	7128153	NC_000017.10:g.7128153C>T	-
NM_000018.4(ACADVL):c.1782C>A (p.Pro594=)	37	ACADVL	Likely benign	1373644425	RCV002185548;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128158	7128158	7128158	-
NM_000018.4(ACADVL):c.1782C>G (p.Pro594=)	37	ACADVL	Likely benign	1373644425	RCV002084698;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128158	7128158	7128158	-
NM_000018.4(ACADVL):c.1784C>T (p.Thr595Met)	37	ACADVL	Uncertain significance	-1	RCV003090690;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128160	7128160	NC_000017.10:g.7128160C>T	-
NM_000018.4(ACADVL):c.1784C>G (p.Thr595Arg)	37	ACADVL	Uncertain significance	-1	RCV003072383;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128160	7128160	NC_000017.10:g.7128160C>G	-
NM_000018.4(ACADVL):c.1785G>A (p.Thr595=)	37	ACADVL	Likely benign	774382482	RCV002182037;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128161	7128161	7128161	-
NM_000018.4(ACADVL):c.1788C>G (p.Ala596=)	37	ACADVL	Likely benign	1597540282	RCV001437882;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128164	7128164	7128164	-
NM_000018.4(ACADVL):c.1791G>A (p.Gln597=)	37	ACADVL	Likely benign	372453844	RCV000928160;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128167	7128167	17:g.7128167G>A	-
NM_000018.4(ACADVL):c.1801del (p.Met601fs)	37	ACADVL	Uncertain significance	-1	RCV002472386;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128174	7128174	NC_000017.10:g.7128177del	-
NM_000018.4(ACADVL):c.1800A>T (p.Lys600Asn)	37	ACADVL	Uncertain significance	2071403522	RCV001200716;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128176	7128176	17:g.7128176A>T	-
NM_000018.4(ACADVL):c.1801A>G (p.Met601Val)	37	ACADVL	Uncertain significance	-1	RCV003139570;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128177	7128177	NC_000017.10:g.7128177A>G	-
NM_000018.4(ACADVL):c.1803G>A (p.Met601Ile)	37	ACADVL	Uncertain significance	201462718	RCV000414590\|RCV001047994\|RCV002275021;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7128179	7128179	17:g.7128179G>A	ClinGen:CA8338273	CN169374 not specified;
NM_000018.4(ACADVL):c.1806_1807del (p.Leu602_Cys603insTer)	37	ACADVL	Likely pathogenic	796051917	RCV000185740\|RCV000666299;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128180	7128181	17:g.7128180_7128181del	ClinGen:CA312289	CN517202 not provided;
NM_000018.4(ACADVL):c.1807dup (p.Cys603fs)	37	ACADVL	Uncertain significance	1555529088	RCV000483312\|RCV001069851;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128182	7128183	17:g.7128182_7128183insT	ClinGen:CA16620602	CN517202 not provided;
NM_000018.4(ACADVL):c.1806C>G (p.Leu602=)	37	ACADVL	Likely benign	-1	RCV002912626;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128182	7128182		-
NM_000018.4(ACADVL):c.1807T>C (p.Cys603Arg)	37	ACADVL	Uncertain significance	2071403861	RCV001200717;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128183	7128183	17:g.7128183T>C	-
NM_000018.4(ACADVL):c.1808del (p.Cys603fs)	37	ACADVL	Uncertain significance	2142990894	RCV001388677;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128184	7128184	7128183	-
NM_000018.4(ACADVL):c.1813A>C (p.Thr605Pro)	37	ACADVL	Uncertain significance	2071404097	RCV001200718;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128189	7128189	17:g.7128189A>C	-
NM_000018.4(ACADVL):c.1814C>G (p.Thr605Ser)	37	ACADVL	Uncertain significance	-1	RCV002303401;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128190	7128190	7128190	-
NM_000018.4(ACADVL):c.1815C>G (p.Thr605=)	37	ACADVL	Likely benign	2142990923	RCV001499492;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128191	7128191	7128191	-
NM_000018.4(ACADVL):c.1815C>T (p.Thr605=)	37	ACADVL	Likely benign	2142990923	RCV002130918;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128191	7128191	7128191	-
NM_000018.4(ACADVL):c.1818G>A (p.Trp606Ter)	37	ACADVL	Uncertain significance	2071404265	RCV001200790;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128194	7128194	17:g.7128194G>A	-
NM_000018.4(ACADVL):c.1820G>A (p.Cys607Tyr)	37	ACADVL	Conflicting interpretations of pathogenicity	200117742	RCV000224548\|RCV001200778;	N	MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128196	7128196	17:g.7128196G>A	ClinGen:CA10581272	CN517202 not provided;
NM_000018.4(ACADVL):c.1820G>C (p.Cys607Ser)	37	ACADVL	Conflicting interpretations of pathogenicity	200117742	RCV000534253;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128196	7128196	17:g.7128196G>C	ClinGen:CA8338274	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1824C>T (p.Ile608=)	37	ACADVL	Conflicting interpretations of pathogenicity	146115467	RCV000324256\|RCV001718680\|RCV002411220;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	17	7128200	7128200	NC_000017.10:g.7128200C>T	ClinGen:CA8338276	CN169374 not specified;
NM_000018.4(ACADVL):c.1825G>A (p.Glu609Lys)	37	ACADVL	Uncertain significance	398123086	RCV000185732\|RCV000670696;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128201	7128201	17:g.7128201G>A	ClinGen:CA220202	CN169374 not specified;
NM_000018.4(ACADVL):c.1825G>C (p.Glu609Gln)	37	ACADVL	Uncertain significance	398123086	RCV001999465;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128201	7128201	7128201	-
NM_000018.4(ACADVL):c.1826A>C (p.Glu609Ala)	37	ACADVL	Uncertain significance	908625615	RCV001200719;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128202	7128202	17:g.7128202A>C	-
NM_000018.4(ACADVL):c.1827+8T>C	37	ACADVL	Likely benign	941400018	RCV000440947\|RCV001427489;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128211	7128211	17:g.7128211T>C	ClinGen:CA16608641	CN169374 not specified;
NM_000018.4(ACADVL):c.1827+9C>T	37	ACADVL	Likely benign	372630480	RCV001503800;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128212	7128212	17:g.7128212C>T	-
NM_000018.4(ACADVL):c.1827+10G>A	37	ACADVL	Conflicting interpretations of pathogenicity	766755156	RCV001200730;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128213	7128213	17:g.7128213G>A	-
NM_000018.4(ACADVL):c.1828-20C>T	37	ACADVL	Likely benign	757145035	RCV000840130\|RCV002068559;	N	MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128256	7128256	17:g.7128256C>T	-
NM_000018.4(ACADVL):c.1828-17T>G	37	ACADVL	Likely benign	-1	RCV002716514;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128259	7128259	NC_000017.10:g.7128259T>G	-
NM_000018.4(ACADVL):c.1828-4C>G	37	ACADVL	Conflicting interpretations of pathogenicity	184559206	RCV000251264\|RCV000549028\|RCV001706283;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7128272	7128272	17:g.7128272C>G	ClinGen:CA8338291	CN169374 not specified;
NM_000018.4(ACADVL):c.1828-4C>A	37	ACADVL	Likely benign	-1	RCV003078664;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128272	7128272	NC_000017.10:g.7128272C>A	-
NM_000018.4(ACADVL):c.1829C>T (p.Ala610Val)	37	ACADVL	Uncertain significance	1179668719	RCV001200720;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128277	7128277	17:g.7128277C>T	-
NM_000018.4(ACADVL):c.1832C>T (p.Ala611Val)	37	ACADVL	Uncertain significance	2071408325	RCV001246700;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128280	7128280	17:g.7128280C>T	-
NM_000018.4(ACADVL):c.1835C>G (p.Ala612Gly)	37	ACADVL	Uncertain significance	374898424	RCV000527141;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128283	7128283	17:g.7128283C>G	ClinGen:CA8338294	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1835C>T (p.Ala612Val)	37	ACADVL	Uncertain significance	-1	RCV002633308;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128283	7128283	NC_000017.10:g.7128283C>T	-
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp)	37	ACADVL	Likely pathogenic	118204014	RCV000001690\|RCV000185733;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7128285	7128285	17:g.7128285C>T	ClinGen:CA251903,UniProtKB:P49748#VAR_000365,OMIM:609575.0003	CN517202 not provided;
NM_000018.4(ACADVL):c.1838G>A (p.Arg613Gln)	37	ACADVL	Conflicting interpretations of pathogenicity	534647044	RCV000756953\|RCV001060887;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128286	7128286	NC_000017.10:g.7128286G>A	-
NM_000018.4(ACADVL):c.1838G>C (p.Arg613Pro)	37	ACADVL	Pathogenic	-1	RCV003086036;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128286	7128286	NC_000017.10:g.7128286G>C	-
NM_000018.4(ACADVL):c.1839del (p.Ile614fs)	37	ACADVL	Likely pathogenic	-1	RCV003465163;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128286	7128286		-
NM_000018.4(ACADVL):c.1839G>A (p.Arg613=)	37	ACADVL	Conflicting interpretations of pathogenicity	79125791	RCV000243077\|RCV000360248\|RCV001705322;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7128287	7128287	17:g.7128287G>A	ClinGen:CA8338296	CN169374 not specified;
NM_000018.4(ACADVL):c.1842C>G (p.Ile614Met)	37	ACADVL	Uncertain significance	-1	RCV002810458;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128290	7128290	NC_000017.10:g.7128290C>G	-
NM_000018.4(ACADVL):c.1843C>T (p.Arg615Ter)	37	ACADVL	Likely pathogenic	1057520507	RCV000438504\|RCV000537328;	N	MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128291	7128291	17:g.7128291C>T	ClinGen:CA16608642	CN517202 not provided;
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln)	37	ACADVL	Likely benign	148584617	RCV000176020\|RCV000193309\|RCV002307434;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN169374	17	7128292	7128292	17:g.7128292G>A	ClinGen:CA090895,UniProtKB:P49748#VAR_010106	CN517202 not provided;
NM_000018.4(ACADVL):c.1848G>A (p.Glu616=)	37	ACADVL	Likely benign	372886650	RCV001405167;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128296	7128296	17:g.7128296G>A	-
NM_000018.4(ACADVL):c.1848G>C (p.Glu616Asp)	37	ACADVL	Uncertain significance	372886650	RCV001348858;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128296	7128296	7128296	-
NM_000018.4(ACADVL):c.1849G>A (p.Gly617Ser)	37	ACADVL	Uncertain significance	752227163	RCV001200721;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128297	7128297	17:g.7128297G>A	-
NM_000018.4(ACADVL):c.1855G>A (p.Ala619Thr)	37	ACADVL	Uncertain significance	-1	RCV002781237;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128303	7128303	NC_000017.10:g.7128303G>A	-
NM_000018.4(ACADVL):c.1857C>T (p.Ala619=)	37	ACADVL	Likely benign	375730795	RCV001454675;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128305	7128305	7128305	-
NM_000018.4(ACADVL):c.1857C>G (p.Ala619=)	37	ACADVL	Likely benign	375730795	RCV002124415;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128305	7128305	7128305	-
NM_000018.4(ACADVL):c.1858G>A (p.Ala620Thr)	37	ACADVL	Uncertain significance	965557488	RCV001200722\|RCV003293989;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MeSH:D030342,MedGen:C0950123	17	7128306	7128306	17:g.7128306G>A	-
NM_000018.4(ACADVL):c.1864C>T (p.Gln622Ter)	37	ACADVL	Uncertain significance	1555529172	RCV000665971;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128312	7128312	17:g.7128312C>T	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1865A>G (p.Gln622Arg)	37	ACADVL	Uncertain significance	-1	RCV002574168;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128313	7128313	NC_000017.10:g.7128313A>G	-
NM_000018.4(ACADVL):c.1866G>A (p.Gln622=)	37	ACADVL	Likely benign	373898227	RCV000616680\|RCV001465911;	N	MedGen:CN169374\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128314	7128314	17:g.7128314G>A	ClinGen:CA8338302	CN169374 not specified;
NM_000018.4(ACADVL):c.1870G>C (p.Asp624His)	37	ACADVL	Uncertain significance	1597541044	RCV001000834;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128318	7128318	17:g.7128318G>C	-
NM_000018.4(ACADVL):c.1873C>G (p.Pro625Ala)	37	ACADVL	Uncertain significance	377044444	RCV000794763;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128321	7128321	17:g.7128321C>G	-
NM_000018.4(ACADVL):c.1873C>T (p.Pro625Ser)	37	ACADVL	Uncertain significance	377044444	RCV002033343;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128321	7128321	7128321	-
NM_000018.4(ACADVL):c.1873C>A (p.Pro625Thr)	37	ACADVL	Uncertain significance	-1	RCV002642263;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128321	7128321	NC_000017.10:g.7128321C>A	-
NM_000018.4(ACADVL):c.1875C>G (p.Pro625=)	37	ACADVL	Likely benign	2071410938	RCV001395777;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128323	7128323	7128323	-
NM_000018.4(ACADVL):c.1875C>A (p.Pro625=)	37	ACADVL	Likely benign	-1	RCV002721150;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128323	7128323		-
NM_000018.4(ACADVL):c.1878G>A (p.Trp626Ter)	37	ACADVL	Conflicting interpretations of pathogenicity	1555529186	RCV000652044\|RCV002293468;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN517202	17	7128326	7128326	NC_000017.10:g.7128326G>A	ClinGen:CA397726083	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1881G>C (p.Gln627His)	37	ACADVL	Uncertain significance	931018661	RCV001052857;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128329	7128329	17:g.7128329G>C	-
NM_000018.4(ACADVL):c.1881G>A (p.Gln627=)	37	ACADVL	Conflicting interpretations of pathogenicity	931018661	RCV001559198;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128329	7128329	7128329	-
NM_000018.4(ACADVL):c.1882del (p.Gln628fs)	37	ACADVL	Uncertain significance	1597541142	RCV001001435;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128330	7128330	17:g.7128330_7128330del	-
NM_000018.4(ACADVL):c.1891dup (p.Tyr631fs)	37	ACADVL	Conflicting interpretations of pathogenicity	2071412066	RCV001200791\|RCV001266826;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MeSH:D030342,MedGen:C0950123	17	7128338	7128339	17:g.7128338_7128339insT	-
NM_000018.4(ACADVL):c.1890C>G (p.Leu630=)	37	ACADVL	Likely benign	-1	RCV002806720;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128338	7128338		-
NM_000018.4(ACADVL):c.1893C>T (p.Tyr631=)	37	ACADVL	Likely benign	780006187	RCV001435073\|RCV002409302;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MeSH:D030342,MedGen:C0950123	17	7128341	7128341	17:g.7128341C>T	-
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys)	37	ACADVL	Conflicting interpretations of pathogenicity	151254520	RCV000525816\|RCV002248780\|RCV001532300;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN169374\|MedGen:C3661900	17	7128342	7128342	17:g.7128342C>T	ClinGen:CA8338308	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1896dup (p.Asn633fs)	37	ACADVL	Uncertain significance	2071412513	RCV001200792;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128343	7128344	17:g.7128343_7128344insC	-
NM_000018.4(ACADVL):c.1895G>A (p.Arg632His)	37	ACADVL	Uncertain significance	-1	RCV003002361;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128343	7128343	NC_000017.10:g.7128343G>A	-
NM_000018.4(ACADVL):c.1899C>T (p.Asn633=)	37	ACADVL	Likely benign	2142991198	RCV001418966;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128347	7128347	7128347	-
NM_000018.4(ACADVL):c.1901T>G (p.Phe634Cys)	37	ACADVL	Uncertain significance	2071412683	RCV001200723;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128349	7128349	17:g.7128349T>G	-
NM_000018.4(ACADVL):c.1908dup (p.Ile637fs)	37	ACADVL	Likely pathogenic	1555529204	RCV000673345;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128355	7128356	17:g.7128355_7128356insC	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1909_1912dup (p.Ser638fs)	37	ACADVL	Uncertain significance	2071413180	RCV001339031;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128356	7128357	7128356	-
NM_000018.4(ACADVL):c.1908C>T (p.Ser636=)	37	ACADVL	Likely benign	-1	RCV002900571;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128356	7128356		-
NM_000018.4(ACADVL):c.1911C>T (p.Ile637=)	37	ACADVL	Likely benign	2142991217	RCV001398091;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128359	7128359	7128359	-
NM_000018.4(ACADVL):c.1913C>T (p.Ser638Phe)	37	ACADVL	Uncertain significance	1210477732	RCV001938060;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128361	7128361	7128361	-
NM_000018.4(ACADVL):c.1915A>C (p.Lys639Gln)	37	ACADVL	Uncertain significance	771122302	RCV002012371;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128363	7128363	7128363	-
NM_000018.4(ACADVL):c.1922T>C (p.Leu641Ser)	37	ACADVL	Uncertain significance	2071413884	RCV001279288;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128370	7128370	17:g.7128370T>C	-
NM_000018.4(ACADVL):c.1923G>C (p.Leu641Phe)	37	ACADVL	Uncertain significance	1452402269	RCV000668695;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128371	7128371	17:g.7128371G>C	-	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1924G>A (p.Val642Met)	37	ACADVL	Likely pathogenic	-1	RCV003121509;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128372	7128372	NC_000017.10:g.7128372G>A	-
NM_000018.4(ACADVL):c.1929G>C (p.Glu643Asp)	37	ACADVL	Uncertain significance	1208010882	RCV000652032\|RCV000786080;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN517202	17	7128377	7128377	NC_000017.10:g.7128377G>C	ClinGen:CA397726201	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1929G>A (p.Glu643=)	37	ACADVL	Likely benign	1208010882	RCV001462403;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128377	7128377	7128377	-
NM_000018.4(ACADVL):c.1930C>T (p.Arg644Trp)	37	ACADVL	Uncertain significance	-1	RCV002587929;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128378	7128378	NC_000017.10:g.7128378C>T	-
NM_000018.4(ACADVL):c.1931G>C (p.Arg644Pro)	37	ACADVL	Uncertain significance	774762384	RCV001200724;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128379	7128379	17:g.7128379G>C	-
NM_000018.4(ACADVL):c.1931G>A (p.Arg644Gln)	37	ACADVL	Uncertain significance	774762384	RCV001756296\|RCV001882814\|RCV002266009;	N	MedGen:C3661900\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:CN169374	17	7128379	7128379	7128379	-
NM_000018.4(ACADVL):c.1932G>A (p.Arg644=)	37	ACADVL	Uncertain significance	886053375	RCV000260747;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128380	7128380	NC_000017.10:g.7128380G>A	ClinGen:CA10640461	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1932G>C (p.Arg644=)	37	ACADVL	Likely benign	886053375	RCV001452194;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128380	7128380	7128380	-
NM_000018.4(ACADVL):c.1937G>T (p.Gly646Val)	37	ACADVL	Uncertain significance	768878569	RCV001200725;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128385	7128385	17:g.7128385G>T	-
NM_000018.4(ACADVL):c.1941G>A (p.Val647=)	37	ACADVL	Likely benign	2142991254	RCV002171156;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128389	7128389	7128389	-
NM_000018.4(ACADVL):c.1944C>T (p.Val648=)	37	ACADVL	Likely benign	1171256173	RCV002196071;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128392	7128392	7128392	-
NM_000018.4(ACADVL):c.1953C>A (p.Asn651Lys)	37	ACADVL	Uncertain significance	1417091241	RCV001326035;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128401	7128401	7128401	-
NM_000018.4(ACADVL):c.1953C>T (p.Asn651=)	37	ACADVL	Likely benign	1417091241	RCV001438616;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128401	7128401	7128401	-
NM_000018.4(ACADVL):c.1956A>G (p.Pro652=)	37	ACADVL	Likely benign	2071415834	RCV002212473;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128404	7128404	7128404	-
NM_000018.4(ACADVL):c.1958T>C (p.Leu653Pro)	37	ACADVL	Uncertain significance	-1	RCV003110482;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128406	7128406	NC_000017.10:g.7128406T>C	-
NM_000018.4(ACADVL):c.1964T>A (p.Phe655Tyr)	37	ACADVL	Uncertain significance	377659973	RCV001200779;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128412	7128412	17:g.7128412T>A	-
NM_000018.4(ACADVL):c.1964T>C (p.Phe655Ser)	37	ACADVL	Uncertain significance	377659973	RCV001802416;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128412	7128412	7128412	-
NM_000018.4(ACADVL):c.1966T>A (p.Ter656Arg)	37	ACADVL	Uncertain significance	-1	RCV002286682;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128414	7128414	7128414	-
NM_000018.4(ACADVL):c.1967G>C (p.Ter656Ser)	37	ACADVL	Uncertain significance	2071416769	RCV001200793;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128415	7128415	17:g.7128415G>C	-
NM_000018.4(ACADVL):c.1968A>C (p.Ter656Cys)	37	ACADVL	Uncertain significance	-1	RCV002286689;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128416	7128416	7128416	-
NM_000018.4(ACADVL):c.*8del	37	ACADVL	Uncertain significance	398123078	RCV000077897\|RCV000316014;	N	MedGen:CN517202\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128422	7128422	17:g.7128422_7128422del	ClinGen:CA220188	CN169374 not specified;
NM_000018.4(ACADVL):c.*8C>T	37	ACADVL	Conflicting interpretations of pathogenicity	370513576	RCV001200797\|RCV001638052;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793\|MedGen:C3661900	17	7128424	7128424	17:g.7128424C>T	-
NM_000018.4(ACADVL):c.*32T>G	37	ACADVL	Uncertain significance	886053376	RCV000375152;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128448	7128448	NC_000017.10:g.7128448T>G	ClinGen:CA10640462	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.*53C>T	37	ACADVL	Uncertain significance	535274747	RCV000280760;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128469	7128469	NC_000017.10:g.7128469C>T	ClinGen:CA10650020	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.*116C>G	37	ACADVL	Uncertain significance	2071420563	RCV001123997;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128532	7128532	17:g.7128532C>G	-
NM_001365.5(DLG4):c.159+455G>T	-1	ACADVL;DLG4	Benign	-1	RCV003120300;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7121105	7121105		-
NM_000018.3(ACADVL):c.-64T>C	-1	ACADVL;DLG4	Benign	77051465	RCV000299039;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123240	7123240	NC_000017.10:g.7123240T>C	ClinGen:CA8337481	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.62G>A (p.Ser21Asn)	-1	ACADVL;DLG4	Likely pathogenic	753922855	RCV001802604;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7123365	7123365	7123365	-
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp)	-1	ACADVL;DVL2	Likely pathogenic	113994170	RCV000020073;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127359	7127359	17:g.7127359C>T	ClinGen:CA341519,UniProtKB:P49748#VAR_000362	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1468G>C (p.Ala490Pro)	-1	ACADVL;DVL2	Likely pathogenic	759775666	RCV000554101;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127498	7127498	NC_000017.10:g.7127498G>C	ClinGen:CA8338123	C3887523 201475 Very long chain acyl-CoA dehydrogenase deficiency;
NM_000018.4(ACADVL):c.1632del (p.Thr545fs)	-1	ACADVL;DVL2	Likely pathogenic	-1	RCV002310165;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7127824	7127824	7127823	-
NM_000018.4(ACADVL):c.1748C>A (p.Ser583Ter)	-1	ACADVL;DVL2	Likely pathogenic	-1	RCV002309119;	N	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7128030	7128030	7128030	-
NC_000017.10:g.(?_6328780)_(7606804_?)dup	-1	subset of 64 genes: DLG4:TP53	Uncertain significance	-1	RCV003109217\|RCV003119078;	N	MONDO:MONDO:0014581,MedGen:C4225374,OMIM:616313, Orphanet:590\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	6328780	7606804		-