Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD)


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Introduction

Long-chain fatty acid oxidation disorders (LC-FAOD) are a group of rare inborn errors of metabolism leading to serious consequences due to inability to convert long-chain fat into energy (1). LC-FAOD nuclear genes encode mitochondrial proteins necessary for energy production. There are 6 enzyme deficiencies associated with LC-FAOD.

Transport of fatty acids into cells and the fatty acid breakdown are necessary for energy production when sugar, or glucose, levels are low. Without this energy supply, people with LC-FAOD may have symptoms that include, but are not limited to muscle pain, muscle weakness, low blood sugar, and fatigue (2).

ACADVL

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

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CPT1A

Carnitine Palmitoyltransferase I (CPT I) Deficiency

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CPT2

Carnitine Palmitoyltransferase II (CPT II) Deficiency

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HADHA

Long-Chain 3-Hydroxyl-acyl-CoA Dehydrogenase (LCHAD) Deficiency, Trifunctional Protein (TFP) Deficiency

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HADHB
Trifunctional Protein (TFP) Deficiency

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SLC25A20

Carnitine-Acylcarnitine Translocase (CACT) Deficiency

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Explore the LC-FAOD genotypes​
Search by allele to find variants reported together. ​

  • Filter genotypes by gene

Allele 1Allele 2Times ObservedPhenotypePMIDs
ACADVL:c.1001T>G (p.Met334Arg)_PathogenicACADVL:c.1844G>A (p.Arg615Gln)_Likely PathogenicUnder 5 times27209629
ACADVL:c.1009C>T (p.Leu337Phe)_PathogenicACADVL:c.996dup (p.Ala333Cysfs*26)_PathogenicUnder 5 times35400565
ACADVL:c.1019G>T (p.Gly340Val)_Uncertain SignificanceACADVL:c.753-27C>T (Intronic)_Uncertain SignificanceUnder 5 times27246109
ACADVL:c.1019G>T (p.Gly340Val)_Uncertain Significance
SLC25A20:c.868G>A (p.Ala290Thr)_Uncertain Significance*		Under 5 times
ACADVL:c.103_112dup (p.Arg38Profs*24)_PathogenicACADVL:c.103_112dup (p.Arg38Profs*24)_PathogenicUnder 5 times29768383
ACADVL:c.104del (p.Pro35Leufs*26)_PathogenicACADVL:c.104del (p.Pro35Leufs*26)_Pathogenic11-20 timesElevated circulating creatine kinase concentration (7), Myalgia (6), Exercise intolerance (5), Hypoglycemia (3), Arrhythmia (2), Cardiac-other (2), Cardiomyopathy (2), Malaise/fatigue ....17999356, 21333574, 24305961, 25834949, 26881790, 32061778, 32276429, 32463482
ACADVL:c.1052C>T (p.Thr351Ile)_Uncertain SignificanceACADVL:c.1281G>C (p.Trp427Cys)_Likely PathogenicUnder 5 times31031081, 33442025
ACADVL:c.1066A>G (p.Ile356Val)_Likely PathogenicACADVL:c.1504C>G (p.Leu502Val)_Likely PathogenicUnder 5 times23867825, 31031081
ACADVL:c.1066A>G (p.Ile356Val)_Likely PathogenicACADVL:c.533T>C (p.Leu178Pro)_Likely PathogenicUnder 5 times33123633
ACADVL:c.1066A>G (p.Ile356Val)_Likely PathogenicACADVL:c.63-2A>C (Intronic)_PathogenicUnder 5 times27209629
ACADVL:c.1072A>G (p.Lys358Glu)_Likely PathogenicACADVL:c.541dup (p.His181Profs*72)_PathogenicUnder 5 times25834949
ACADVL:c.1076C>T (p.Ala359Val)_Likely PathogenicACADVL:c.1076C>T (p.Ala359Val)_Likely PathogenicUnder 5 times26385305
ACADVL:c.1076C>T (p.Ala359Val)_Likely PathogenicACADVL:c.848T>C (p.Val283Ala)_PathogenicUnder 5 times27209629
ACADVL:c.1076C>T (p.Ala359Val)_Likely Pathogenic
ACADVL:c.839C>T (p.Thr280Ile)_Likely Pathogenic*		Under 5 times
ACADVL:c.1077+2T>C (Intronic)_PathogenicACADVL:c.1077+2T>C (Intronic)_PathogenicUnder 5 times25338548
ACADVL:c.1077+2T>C (Intronic)_PathogenicACADVL:c.1358G>A (p.Arg453Gln)_PathogenicUnder 5 times33986768
ACADVL:c.1077+2T>C (Intronic)_PathogenicACADVL:c.1538C>G (p.Ala513Gly)_Uncertain SignificanceUnder 5 times33986768
ACADVL:c.1077G>A (p.Ala359=)_Likely PathogenicACADVL:c.1077G>A (p.Ala359=)_Likely PathogenicUnder 5 times27246109
ACADVL:c.1077G>A (p.Ala359=)_Likely PathogenicACADVL:c.683T>C (p.Ile228Thr)_Uncertain SignificanceUnder 5 times35281663
ACADVL:c.1077G>A (p.Ala359=)_Likely Pathogenic
ACADVL:c.1077_1077+1delinsCAC (p.?)_Likely Pathogenic
ACADVL:c.1076dup (p.Val360Glyfs*6)_Pathogenic*		Under 5 times
ACADVL:c.1096C>T (p.Arg366Cys)_PathogenicACADVL:c.604C>G (p.Leu202Val)_Likely PathogenicUnder 5 times32793418
ACADVL:c.1096C>T (p.Arg366Cys)_Pathogenic*ACADVL:c.947G>A (p.Arg316Gln)_Pathogenic*Under 5 times
ACADVL:c.1097G>A (p.Arg366His)_PathogenicACADVL:c.1097G>A (p.Arg366His)_PathogenicUnder 5 times24263034
ACADVL:c.1097G>A (p.Arg366His)_PathogenicACADVL:c.898A>C (p.Met300Leu)_Likely PathogenicUnder 5 times28871440
ACADVL:c.1097G>A (p.Arg366His)_Pathogenic
ACADVL:c.1844G>A (p.Arg615Gln)_Likely Pathogenic		Under 5 times28755359
ACADVL:c.1097G>A (p.Arg366His)_Pathogenic
ACADVL:c.1844G>A (p.Arg615Gln)_Likely Pathogenic		ACADVL:c.1097G>A (p.Arg366His)_Pathogenic
ACADVL:c.1844G>A (p.Arg615Gln)_Likely Pathogenic		Under 5 times28755359
ACADVL:c.1102C>T (p.Gln368*)_PathogenicACADVL:c.1077+6T>A (Intronic)_Uncertain SignificanceUnder 5 times25652019
ACADVL:c.1103A>C (p.Gln368Pro)_Likely PathogenicACADVL:c.1141_1143del (p.Glu381del)_PathogenicUnder 5 times31031081
ACADVL:c.1103A>C (p.Gln368Pro)_Likely PathogenicACADVL:c.1434+14T>A (Intronic)_Uncertain SignificanceUnder 5 times31031081
ACADVL:c.1106T>G (p.Phe369Cys)_Uncertain SignificanceACADVL:c.1106T>G (p.Phe369Cys)_Uncertain SignificanceUnder 5 times26982752, 32558070
ACADVL:c.1117A>T (p.Ile373Phe)_Likely PathogenicACADVL:c.1153C>T (p.Arg385Trp)_PathogenicUnder 5 times16488171, 27246109, 25456746, 27246109
ACADVL:c.1127T>C (p.Phe376Ser)_PathogenicACADVL:c.1552G>A (p.Gly518Ser)_Uncertain SignificanceUnder 5 times31031081
ACADVL:c.1128T>G (p.Phe376Leu)_Uncertain Significance
ACADVL:c.856_857del (p.Arg286Glyfs*11)_Pathogenic*		Under 5 times
ACADVL:c.1141_1143del (p.Glu381del)_PathogenicACADVL:c.1141_1143del (p.Glu381del)_PathogenicUnder 5 times24305961, 26881790
ACADVL:c.1144A>C (p.Lys382Gln)_PathogenicACADVL:c.1144A>C (p.Lys382Gln)_Pathogenic5-10 timesMyalgia (3), Elevated circulating creatine kinase concentration (1), Malaise/fatigue (1), Muscle stiffness (1), Muscle weakness (1)15210884, 31497477, 35400565
ACADVL:c.1144A>C (p.Lys382Gln)_PathogenicACADVL:c.1339G>A (p.Gly447Arg)_Likely PathogenicUnder 5 times17999356, 21378393, 24898617
ACADVL:c.1144A>C (p.Lys382Gln)_PathogenicACADVL:c.388_390del (p.Glu130del)_PathogenicUnder 5 times8554073
ACADVL:c.1144A>C (p.Lys382Gln)_PathogenicACADVL:c.388_391del (p.Glu130Profs*86)_PathogenicUnder 5 times17999356, 20060901
ACADVL:c.1144A>C (p.Lys382Gln)_PathogenicACADVL:c.685C>T (p.Arg229*)_PathogenicUnder 5 times31844625, 29552494, 31372341
ACADVL:c.1144A>C (p.Lys382Gln)_PathogenicACADVL:c.996dup (p.Ala333Cysfs*26)_PathogenicUnder 5 times35400565
ACADVL:c.1144A>C (p.Lys382Gln)_PathogenicACADVL:c.997_998insT (p.Ala333Valfs*26)_PathogenicUnder 5 times17999356, 21378393
ACADVL:c.1144A>C (p.Lys382Gln)_PathogenicACADVL:c.? (p.Cys607Ser)_Likely PathogenicUnder 5 times35400565
ACADVL:c.1144A>C (p.Lys382Gln)_PathogenicACADVL:c.? (p.Gly447Arg)_Likely PathogenicUnder 5 times31844625, 35400565
ACADVL:c.1144A>C (p.Lys382Gln)_PathogenicACADVL:c.? (p.Met478Ile)_Uncertain SignificanceUnder 5 times35400565
ACADVL:c.1144A>C (p.Lys382Gln)_PathogenicACADVL:c.? (p.Phe113*)_PathogenicUnder 5 times31844625, 29552494, 31372341
ACADVL:c.1146G>C (p.Lys382Asn)_PathogenicACADVL:c.1844G>A (p.Arg615Gln)_Likely PathogenicUnder 5 times27209629
ACADVL:c.1146G>C (p.Lys382Asn)_PathogenicACADVL:c.343del (p.Glu115Lysfs*2)_PathogenicUnder 5 times31031081
ACADVL:c.1153C>T (p.Arg385Trp)_PathogenicACADVL:c.1127T>C (p.Phe376Ser)_PathogenicUnder 5 times28755359
ACADVL:c.1153C>T (p.Arg385Trp)_Pathogenic*ACADVL:c.1434G>A (p.Met478Ile)_Pathogenic*Under 5 times
ACADVL:c.1153C>T (p.Arg385Trp)_Pathogenic*ACADVL:c.481G>A (p.Ala161Thr)_Pathogenic*Under 5 times
ACADVL:c.1153C>T (p.Arg385Trp)_PathogenicACADVL:c.996dup (p.Ala333Cysfs*26)_PathogenicUnder 5 times35400565
ACADVL:c.1172A>G (p.Tyr391Cys)_Likely PathogenicACADVL:c.848T>C (p.Val283Ala)_PathogenicUnder 5 times16950999
ACADVL:c.1173dup (p.Val392Cysfs*3)_PathogenicACADVL:c.1806_1807del (p.Cys603*)_PathogenicUnder 5 times27209629
ACADVL:c.1174G>C (p.Val392Leu)_PathogenicACADVL:c.1752-2_1755del (Intronic)_PathogenicUnder 5 times28755359, 35281663
ACADVL:c.1182+1G>A (Intronic)_PathogenicACADVL:c.1182+1G>A (Intronic)_PathogenicUnder 5 times26602010
ACADVL:c.1182+1G>A (Intronic)_PathogenicACADVL:c.1406G>A (p.Arg469Gln)_PathogenicUnder 5 times36109795
ACADVL:c.1182+1G>A (Intronic)_PathogenicACADVL:c.566T>C (p.Ile189Thr)_Likely PathogenicUnder 5 times27209629, 34194748
ACADVL:c.1183-15A>G (Intronic)_Uncertain SignificanceACADVL:c.1183-15A>G (Intronic)_Uncertain SignificanceUnder 5 times32061778, 9973285
ACADVL:c.1198G>A (p.Val400Met)_Likely PathogenicACADVL:c.854A>G (p.Glu285Gly)_Likely PathogenicUnder 5 times31844625
ACADVL:c.1220G>C (p.Gly407Ala)_Pathogenic*HADHA:c.871C>T (p.Arg291*)_Pathogenic*Under 5 times
ACADVL:c.1228G>T (p.Asp410Tyr)_Uncertain SignificanceACADVL:c.1349G>A (p.Arg450His)_PathogenicUnder 5 times31893530
ACADVL:c.1238T>C (p.Ile413Thr)_Likely PathogenicACADVL:c.1837C>T (p.Arg613Trp)_PathogenicUnder 5 times35281659
ACADVL:c.1238T>G (p.Ile413Arg)_Likely PathogenicACADVL:c.577G>C (p.Gly193Arg)_Likely PathogenicUnder 5 times16950999
ACADVL:c.1241A>C (p.Glu414Ala)_Likely PathogenicACADVL:c.1241A>C (p.Glu414Ala)_Likely PathogenicUnder 5 times32518924
ACADVL:c.1246G>A (p.Ala416Thr)_PathogenicACADVL:c.1246G>A (p.Ala416Thr)_PathogenicUnder 5 times35400565
ACADVL:c.1246G>A (p.Ala416Thr)_PathogenicACADVL:c.1349G>A (p.Arg450His)_PathogenicUnder 5 times11158518, 11914034, 17999356, 21378393, 35400565
ACADVL:c.1246G>A (p.Ala416Thr)_PathogenicACADVL:c.1801del (p.Met601Cysfs*79)_PathogenicUnder 5 times11914034, 17999356, 20060901, 35400565
ACADVL:c.1246G>A (p.Ala416Thr)_PathogenicACADVL:c.430C>G (p.Leu144Val)_Likely PathogenicUnder 5 times30194637
ACADVL:c.1246G>A (p.Ala416Thr)_PathogenicACADVL:c.790A>G (p.Lys264Glu)_Likely PathogenicUnder 5 times32669490
ACADVL:c.1246G>A (p.Ala416Thr)_PathogenicACADVL:c.996dup (p.Ala333Cysfs*26)_PathogenicUnder 5 times31844625, 35400565
ACADVL:c.1246G>A (p.Ala416Thr)_PathogenicACADVL:c.997dup (p.Ala333Glyfs*26)_PathogenicUnder 5 times15210884
ACADVL:c.1246G>A (p.Ala416Thr)_PathogenicACADVL:c.? (p.Cys607Ser)_Likely PathogenicUnder 5 times35400565
ACADVL:c.1246G>T (p.Ala416Ser)_Likely PathogenicACADVL:c.1077+2T>A (Intronic)_PathogenicUnder 5 times30194637
ACADVL:c.1268C>T (p.Ser423Leu)_Uncertain SignificanceACADVL:c.1913C>T (p.Ser638Phe)_Uncertain SignificanceUnder 5 times27590926
ACADVL:c.1269+1G>A (Intronic)_PathogenicACADVL:c.1269+1G>A (Intronic)_PathogenicUnder 5 times25834949, 33742171, 4022672, 7479827, 7769092, 10077518
ACADVL:c.1269+1G>A (Intronic)_Pathogenic
ACADVL:c.949G>T (p.Val317Leu)_Likely Pathogenic		ACADVL:c.1269+1G>A (Intronic)_Pathogenic
ACADVL:c.949G>T (p.Val317Leu)_Likely Pathogenic		Under 5 times21531094
ACADVL:c.1269G>A (p.Ser423=)_Uncertain SignificanceACADVL:c.1468G>C (p.Ala490Pro)_PathogenicUnder 5 times30194637
ACADVL:c.1273G>A (p.Ala425Thr)_Pathogenic*HADHA:c.2027G>T (p.Arg676Leu)_Uncertain Significance
ACADVL:c.628A>C (p.Thr210Pro)_Uncertain Significance*		Under 5 times
ACADVL:c.1280G>A (p.Trp427*)_PathogenicACADVL:c.1280G>A (p.Trp427*)_PathogenicUnder 5 times35664874
ACADVL:c.1280G>A (p.Trp427*)_PathogenicACADVL:c.1345G>C (p.Glu449Gln)_Uncertain SignificanceUnder 5 times31620161
ACADVL:c.128G>A (p.Gly43Asp)_ConflictACADVL:c.49C>T (p.Leu17Phe)_ConflictUnder 5 times30445591
ACADVL:c.1310T>C (p.Met437Thr)_PathogenicACADVL:c.637G>A (p.Ala213Thr)_PathogenicUnder 5 times24801231
ACADVL:c.1310T>C (p.Met437Thr)_Pathogenic
ACADVL:c.1820G>C (p.Cys607Ser)_Pathogenic*		Under 5 times
ACADVL:c.1313G>A (p.Gly438Glu)_Likely PathogenicACADVL:c.1313G>A (p.Gly438Glu)_Likely PathogenicUnder 5 times32518924
ACADVL:c.1316G>A (p.Gly439Asp)_PathogenicACADVL:c.1328T>G (p.Met443Arg)_PathogenicUnder 5 times23480858, 27209629, 34194748
ACADVL:c.1316G>A (p.Gly439Asp)_PathogenicACADVL:c.491T>G (p.Val164Gly)_Likely PathogenicUnder 5 times272487, 23169530
ACADVL:c.1316G>A (p.Gly439Asp)_PathogenicACADVL:c.910G>A (p.Ala304Thr)_Likely PathogenicUnder 5 times17999356, 20060901
ACADVL:c.1322G>A (p.Gly441Asp)_PathogenicACADVL:c.1097G>A (p.Arg366His)_PathogenicUnder 5 times16488171, 27246109, 25456746, 25604974
ACADVL:c.1322G>A (p.Gly441Asp)_PathogenicACADVL:c.1183-7A>G (Intronic)_Uncertain SignificanceUnder 5 times31031081
ACADVL:c.1322G>A (p.Gly441Asp)_PathogenicACADVL:c.1322G>A (p.Gly441Asp)_Pathogenic5-10 timesElevated circulating creatine kinase concentration (3), Exercise intolerance (2)....21333574, 24305961, 30194637, 32061778
ACADVL:c.1322G>A (p.Gly441Asp)_PathogenicACADVL:c.1468G>C (p.Ala490Pro)_PathogenicUnder 5 times26453363
ACADVL:c.1322G>A (p.Gly441Asp)_PathogenicACADVL:c.1837C>T (p.Arg613Trp)_PathogenicUnder 5 times34194748
ACADVL:c.1322G>A (p.Gly441Asp)_PathogenicACADVL:c.1844G>A (p.Arg615Gln)_Likely PathogenicUnder 5 times26453363, 30194637
ACADVL:c.1322G>A (p.Gly441Asp)_PathogenicACADVL:c.753-2A>C (Intronic)_PathogenicUnder 5 times17999356, 21378393, 20060901
ACADVL:c.1322G>A (p.Gly441Asp)_Pathogenic*ACADVL:c.760G>A (p.Gly254Ser)_Pathogenic*Under 5 times
ACADVL:c.1322G>A (p.Gly441Asp)_PathogenicACADVL:c.877C>T (p.His293Tyr)_Likely PathogenicUnder 5 times32463482
ACADVL:c.1322G>A (p.Gly441Asp)_Pathogenic
ACADVL:c.1804C>A (p.Leu602Ile)_Likely Pathogenic		ACADVL:c.1141_1143del (p.Glu381del)_PathogenicUnder 5 times8845838
ACADVL:c.1322G>C (p.Gly441Ala)_PathogenicACADVL:c.848T>C (p.Val283Ala)_PathogenicUnder 5 times30617651
ACADVL:c.1328T>C (p.Met443Thr)_Likely PathogenicACADVL:c.1532G>A (p.Arg511Gln)_PathogenicUnder 5 times25652019
ACADVL:c.1332+2T>A (Intronic)_PathogenicACADVL:c.957G>A (p.Ser319=)_Uncertain SignificanceUnder 5 times30194637
ACADVL:c.1332G>A (p.Lys444Lys)_Uncertain SignificanceACADVL:c.1332G>A (p.Lys444Lys)_Uncertain SignificanceUnder 5 times24330285
ACADVL:c.1339G>A (p.Gly447Arg)_Likely PathogenicACADVL:c.1144A>C (p.Lys382Gln)_PathogenicUnder 5 times22841441
ACADVL:c.1345G>C (p.Glu449Gln)_Uncertain Significance
ACADVL:c.1024T>C (p.Phe342Leu)_Pathogenic*		Under 5 times
ACADVL:c.1349G>A (p.Arg450His)_PathogenicACADVL:c.1213G>C (p.Asp405His)_PathogenicUnder 5 times10518280, 10518280, 17999356, 20060901, 32558070
ACADVL:c.1349G>A (p.Arg450His)_PathogenicACADVL:c.1273G>A (p.Ala425Thr)_PathogenicUnder 5 times23700290
ACADVL:c.1349G>A (p.Arg450His)_PathogenicACADVL:c.1322G>A (p.Gly441Asp)_PathogenicUnder 5 times9546340, 32558070
ACADVL:c.1349G>A (p.Arg450His)_PathogenicACADVL:c.1349G>A (p.Arg450His)_Pathogenic5-10 timesCardiac-other (2), Cardiomyopathy (2), Rhabdomyolysis (2), Elevated circulating creatine kinase concentration (1), ....15210884, 29519241, 30840296, 31794763, 35400565
ACADVL:c.1349G>A (p.Arg450His)_PathogenicACADVL:c.1396G>T (p.Asp466Tyr)_Likely PathogenicUnder 5 times24801231
ACADVL:c.1349G>A (p.Arg450His)_PathogenicACADVL:c.1586_1590del (p.Leu529Serfs*31)_PathogenicUnder 5 times31794763
ACADVL:c.1349G>A (p.Arg450His)_PathogenicACADVL:c.1639G>A (p.Val547Met)_PathogenicUnder 5 times32939699
ACADVL:c.1349G>A (p.Arg450His)_PathogenicACADVL:c.1795G>A (p.Glu599Lys)_Uncertain SignificanceUnder 5 times25652019
ACADVL:c.1349G>A (p.Arg450His)_Pathogenic*ACADVL:c.190A>T (p.Lys64*)_Pathogenic*Under 5 times
ACADVL:c.1349G>A (p.Arg450His)_PathogenicACADVL:c.215C>T (p.Ser72Phe)_Uncertain SignificanceUnder 5 times24801231
ACADVL:c.1349G>A (p.Arg450His)_PathogenicACADVL:c.481G>A (p.Ala161Thr)_PathogenicUnder 5 times16488171, 27246109
ACADVL:c.1349G>A (p.Arg450His)_PathogenicACADVL:c.563G>A (p.Gly188Asp)_Likely PathogenicUnder 5 times31794763
ACADVL:c.1349G>A (p.Arg450His)_PathogenicACADVL:c.664G>C (p.Gly222Arg)_PathogenicUnder 5 times28771436
ACADVL:c.1349G>A (p.Arg450His)_PathogenicACADVL:c.996dup (p.Ala333Cysfs*26)_PathogenicUnder 5 times31844625, 35400565
ACADVL:c.1349G>A (p.Arg450His)_PathogenicACADVL:c.? (p.Cys607Ser)_Likely PathogenicUnder 5 times35400565
ACADVL:c.1349G>A (p.Arg450His)_PathogenicACADVL:c.? (p.Phe112Leu)_Likely PathogenicUnder 5 times31844625
ACADVL:c.1357C>T (p.Arg453*)_PathogenicACADVL:c.? (p.Met478Ile)_Uncertain SignificanceUnder 5 times35400565
ACADVL:c.1358G>A (p.Arg453Gln)_PathogenicACADVL:c.1358G>A (p.Arg453Gln)_Pathogenic5-10 timesMalaise/fatigue (2), Muscle weakness (2), Difficulty getting up (1), Diminished reflexes (1), Elevated circulating ....17999356, 20060901, 30194637, 32558070, 9973285
ACADVL:c.1358G>A (p.Arg453Gln)_PathogenicACADVL:c.38_49del (p.Gln13_Arg16del)_Likely PathogenicUnder 5 times30194637
ACADVL:c.1360G>A (p.Asp454Asn)_Uncertain SignificanceACADVL:c.1375C>T (p.Arg459Trp)_Likely PathogenicUnder 5 times25085675
ACADVL:c.1360G>A (p.Asp454Asn)_Uncertain Significance
ACADVL:c.881G>A (p.Gly294Glu)_Likely Pathogenic*		Under 5 times
ACADVL:c.1367G>A (p.Arg456His)_PathogenicACADVL:c.1367G>A (p.Arg456His)_PathogenicUnder 5 times17206456
ACADVL:c.1367G>A (p.Arg456His)_PathogenicACADVL:c.1678+19_1678+31del (Intronic)_Uncertain SignificanceUnder 5 times35281663
ACADVL:c.1367G>A (p.Arg456His)_PathogenicACADVL:c.1844G>A (p.Arg615Gln)_Likely PathogenicUnder 5 times17999356, 21378393
ACADVL:c.1367G>A (p.Arg456His)_PathogenicACADVL:c.538G>A (p.Ala180Thr)_PathogenicUnder 5 times29268767
ACADVL:c.1372T>C (p.Phe458Leu)_PathogenicACADVL:c.1679-6G>A (Intronic)_PathogenicUnder 5 times9709714
ACADVL:c.1372T>C (p.Phe458Leu)_PathogenicACADVL:c.753-2A>C (Intronic)_PathogenicUnder 5 times10738914
ACADVL:c.1372T>C (p.Phe458Leu)_Pathogenic
HADHA:c.13C>T (p.Arg5Trp)_Uncertain Significance*		Under 5 times
ACADVL:c.1375C>T (p.Arg459Trp)_Likely PathogenicACADVL:c.1375C>T (p.Arg459Trp)_Likely PathogenicUnder 5 times27209629
ACADVL:c.1375dup (p.Arg459Profs*4)_PathogenicACADVL:c.1700G>A (p.Arg567Gln)_PathogenicUnder 5 times36109795
ACADVL:c.1376G>A (p.Arg459Gln)_PathogenicACADVL:c.1376G>A (p.Arg459Gln)_PathogenicUnder 5 times30194637
ACADVL:c.1376G>A (p.Arg459Gln)_PathogenicACADVL:c.1531C>T (p.Arg511Trp)_PathogenicUnder 5 times23798014
ACADVL:c.1376G>A (p.Arg459Gln)_PathogenicACADVL:c.1754C>T (p.Ala585Val)_Uncertain SignificanceUnder 5 times25214167
ACADVL:c.1376G>A (p.Arg459Gln)_PathogenicACADVL:c.277+1G>A (Intronic)_PathogenicUnder 5 times30194637
ACADVL:c.1376G>A (p.Arg459Gln)_Pathogenic*HADHB:c.305T>C (p.Ile102Thr)_Uncertain Significance
HADHA:c.1117G>A (p.Gly373Arg)_Uncertain Significance*		Under 5 times
ACADVL:c.138+2T>C (Intronic)_PathogenicACADVL:c.1366C>T (p.Arg456Cys)_Likely PathogenicUnder 5 times35281663
ACADVL:c.1387G>A (p.Gly463Arg)_Likely PathogenicACADVL:c.1684_1685del (p.Gln562Valfs*29)_PathogenicUnder 5 times31794763
ACADVL:c.1389dup (p.Thr464Aspfs*3)_Pathogenic
ACADVL:c.1106T>C (p.Phe369Ser)_Uncertain Significance*		Under 5 times
ACADVL:c.1391C>A (p.Thr464Lys)_Uncertain SignificanceACADVL:c.1391C>A (p.Thr464Lys)_Uncertain SignificanceUnder 5 times25085675
ACADVL:c.1405C>T (p.Arg469Trp)_PathogenicACADVL:c.1405C>T (p.Arg469Trp)_PathogenicUnder 5 times12208138, 17999356, 9973285
ACADVL:c.1405C>T (p.Arg469Trp)_PathogenicACADVL:c.1468G>C (p.Ala490Pro)_PathogenicUnder 5 times30194637
ACADVL:c.1405C>T (p.Arg469Trp)_Pathogenic*HADHA:c.2131C>A (p.Pro711Thr)_Uncertain Significance*Under 5 times
ACADVL:c.1405C>T (p.Arg469Trp)_Pathogenic
ACADVL:c.128G>A (p.Gly43Asp)_Conflict		ACADVL:c.1405C>T (p.Arg469Trp)_Pathogenic
ACADVL:c.128G>A (p.Gly43Asp)_Conflict		Under 5 times9973285
ACADVL:c.1406G>A (p.Arg469Gln)_PathogenicACADVL:c.1182+1G>A (Intronic)_PathogenicUnder 5 times34194748
ACADVL:c.1406G>A (p.Arg469Gln)_Pathogenic*ACADVL:c.1360G>A (p.Asp454Asn)_Uncertain Significance*Under 5 times
ACADVL:c.1406G>A (p.Arg469Gln)_PathogenicACADVL:c.1406G>A (p.Arg469Gln)_Pathogenic5-10 timesElevated circulating creatine kinase concentration (5), Myalgia (5), Malaise/fatigue (4), Myoglobinuria (3), Arrhyt....17514507, 24305961, 25834949, 26881790, 9973285
ACADVL:c.1411T>C (p.Phe471Leu)_Uncertain SignificanceACADVL:c.1411T>C (p.Phe471Leu)_Uncertain SignificanceUnder 5 times24305961, 25834949
ACADVL:c.1430G>A (p.Cys477Tyr)_PathogenicACADVL:c.753-2A>C (Intronic)_PathogenicUnder 5 times10738914, 2066862, 10738914
ACADVL:c.1434+2T>C (Intronic)_PathogenicACADVL:c.1349G>A (p.Arg450His)_PathogenicUnder 5 times30904546
ACADVL:c.1434G>A (p.Met478Ile)_PathogenicACADVL:c.1376G>A (p.Arg459Gln)_PathogenicUnder 5 times30904546
ACADVL:c.1444_1448del (p.Lys482Alafs*78)_PathogenicACADVL:c.1511_1516del (p.Glu504_Ala505del)_PathogenicUnder 5 times24305961
ACADVL:c.1468G>C (p.Ala490Pro)_Pathogenic
ACADVL:c.419G>A (p.Gly140Glu)_Pathogenic*		Under 5 times
ACADVL:c.1500_1502del (p.Leu502del)_PathogenicACADVL:c.1500_1502del (p.Leu502del)_Pathogenic5-10 timesExercise intolerance (3), Myalgia (3), Myoglobinuria (3), Rhabdomyolysis (3), Abnormality of metabolism/homeostasis (2), Dizziness (1), Elevated circulating creatine kinase concentration (1), Mobilization difficulties (1), Muscle ....16488171, 27246109, 19327992, 24765510, 25456746, 27246109, 27943070, 28871440, 32928639, 32793418
ACADVL:c.1502T>C (p.Leu501Pro)_Uncertain SignificanceACADVL:c.1502T>C (p.Leu501Pro)_Uncertain SignificanceUnder 5 times29373990
ACADVL:c.1504C>G (p.Leu502Val)_Likely PathogenicACADVL:c.1844G>A (p.Arg615Gln)_Likely PathogenicUnder 5 times27209629
ACADVL:c.1522C>T (p.Gln508*)_PathogenicACADVL:c.1349G>A (p.Arg450His)_PathogenicUnder 5 times31893530
ACADVL:c.1531C>T (p.Arg511Trp)_PathogenicACADVL:c.442A>G (p.Ser148Gly)_Likely PathogenicUnder 5 times17999356
ACADVL:c.1531C>T (p.Arg511Trp)_PathogenicACADVL:c.622+14del (Intronic)_Uncertain Significance
ACADVL:c.621_622+9del (Intronic)_Pathogenic		Under 5 times35095998
ACADVL:c.1531C>T (p.Arg511Trp)_Pathogenic
ACADVL:c.1678+3_1678+6del (Intronic)_Likely Pathogenic*		Under 5 times
ACADVL:c.1532G>A (p.Arg511Gln)_PathogenicACADVL:c.103_112dup (p.Arg38Profs*24)_PathogenicUnder 5 times29519241
ACADVL:c.1541G>A (p.Gly514Glu)_Likely PathogenicACADVL:c.1700G>A (p.Arg567Gln)_PathogenicUnder 5 times23480858
ACADVL:c.1557del (p.Ser520Valfs*10)_PathogenicACADVL:c.1557del (p.Ser520Valfs*10)_PathogenicUnder 5 times32518924
ACADVL:c.1567G>A (p.Gly523Arg)_Uncertain SignificanceACADVL:c.1820G>C (p.Cys607Ser)_PathogenicUnder 5 times28747690
ACADVL:c.1591C>T (p.Arg531Trp)_Pathogenic*ACADVL:c.1192_1206dup (p.Tyr398_Ala402dup)_Uncertain Significance*Under 5 times
ACADVL:c.1591C>T (p.Arg531Trp)_PathogenicACADVL:c.1269+1G>A (Intronic)_PathogenicUnder 5 times21932095
ACADVL:c.1591C>T (p.Arg531Trp)_PathogenicACADVL:c.1678+1G>C (Intronic)_PathogenicUnder 5 times35281659
ACADVL:c.1605+6_1605+7inv (Intronic)_Uncertain Significance
ACADVL:c.1240G>A (p.Glu414Lys)_Uncertain Significance*		Under 5 times
ACADVL:c.1606-3_1606-2del (Intronic)_PathogenicACADVL:c.265C>T (p.Pro89Ser)_PathogenicUnder 5 times17999356, 11131350, 11914034
ACADVL:c.1616C>A (p.Ala539Asp)_Likely Pathogenic
ACADVL:c.1612C>T (p.Arg538Trp)_Uncertain Significance*		Under 5 times
ACADVL:c.1617T>C (p.Ala539Ala)_Uncertain SignificanceACADVL:c.1708_1717dup (p.Ile573Argfs*22)_PathogenicUnder 5 times27209629
ACADVL:c.1619T>C (p.Leu540Pro)_PathogenicACADVL:c.1707_1715dup (p.Asp570_Ala572dup)_Likely PathogenicUnder 5 times34638902, 36078043
ACADVL:c.1619T>C (p.Leu540Pro)_PathogenicACADVL:c.1708_1716dup (p.Asp570_Ala572dup)_Likely PathogenicUnder 5 times28871440, 32928639, 34194748
ACADVL:c.1619T>C (p.Leu540Pro)_PathogenicACADVL:c.1708_1717dup (p.Ile573Argfs*22)_PathogenicUnder 5 times30445591
ACADVL:c.1639G>A (p.Val547Met)_PathogenicACADVL:c.727C>T (p.Leu243Phe)_PathogenicUnder 5 times31844625
ACADVL:c.1666_1668del (p.Lys556del)_Likely PathogenicACADVL:c.829_831del (p.Glu277del)_PathogenicUnder 5 times30194637
ACADVL:c.1673T>C (p.Ile558Thr)_Uncertain SignificanceACADVL:c.520G>A (p.Val174Met)_PathogenicUnder 5 times31191348, 32558070
ACADVL:c.1673T>C (p.Ile558Thr)_Uncertain Significance
ACADVL:c.332G>A (p.Arg111His)_Uncertain Significance*		Under 5 times
ACADVL:c.1678+4A>T (Intronic)_Uncertain Significance
ACADVL:c.1803G>A (p.Met601Ile)_Uncertain Significance*		Under 5 times
ACADVL:c.1678+4A>T (Intronic)_Uncertain Significance
ACADVL:c.1803G>A (p.Met601Ile)_Uncertain Significance
ACADVL:c.1682_1701del (p.Glu561Alafs*24)_Pathogenic*		Under 5 times
ACADVL:c.1679-6G>A (Intronic)_PathogenicACADVL:c.1679-6G>A (Intronic)_PathogenicUnder 5 times27943070, 9973285
ACADVL:c.1679_1680insCAGA (p.Glu561Argfs*2)_PathogenicACADVL:c.1679_1680insCAGA (p.Glu561Argfs*2)_PathogenicUnder 5 times8845838
ACADVL:c.1684_1685del (p.Gln562Valfs*29)_Pathogenic
CPT2:c.1429C>T (p.Arg477Trp)_Uncertain Significance*		Under 5 times
ACADVL:c.1700G>A (p.Arg567Gln)_Pathogenic*ACADVL:c.1531C>T (p.Arg511Trp)_Pathogenic*Under 5 times
ACADVL:c.1700G>A (p.Arg567Gln)_PathogenicACADVL:c.1700G>A (p.Arg567Gln)_PathogenicUnder 5 times30194637, 32518924
ACADVL:c.1700G>A (p.Arg567Gln)_PathogenicACADVL:c.753-6C>A (Intronic)_Uncertain SignificanceUnder 5 times23798014
ACADVL:c.1700G>A (p.Arg567Gln)_PathogenicACADVL:c.883C>A (p.Pro295Thr)_Likely PathogenicUnder 5 times30194637
ACADVL:c.1708_1717dup (p.Ile573Argfs*22)_PathogenicACADVL:c.1619T>C (p.Leu540Pro)_PathogenicUnder 5 times23480858
ACADVL:c.1748C>T (p.Ser583Leu)_PathogenicACADVL:c.1748C>T (p.Ser583Leu)_PathogenicUnder 5 times32518924
ACADVL:c.1754C>A (p.Ala585Asp)_Uncertain Significance
ACADVL:c.760G>A (p.Gly254Ser)_Pathogenic
CPT1A:c.1163+4C>T (Intronic)_Uncertain Significance*		Under 5 times
ACADVL:c.1793A>G (p.His598Arg)_Uncertain SignificanceACADVL:c.? (p.Cys607Ser)_Likely PathogenicUnder 5 times35400565
ACADVL:c.1801del (p.Met601Cysfs*79)_PathogenicACADVL:c.1246G>A (p.Ala416Thr)_PathogenicUnder 5 times15210884
ACADVL:c.1807dup (p.Cys603Leufs*2)_PathogenicACADVL:c.1807dup (p.Cys603Leufs*2)_PathogenicUnder 5 times27590926
ACADVL:c.1827+1G>A (Intronic)_PathogenicACADVL:c.1367G>A (p.Arg456His)_PathogenicUnder 5 times30194637
ACADVL:c.1837C>T (p.Arg613Trp)_PathogenicACADVL:c.1322G>A (p.Gly441Asp)_PathogenicUnder 5 times10077518, 28871440, 32928639
ACADVL:c.1837C>T (p.Arg613Trp)_PathogenicACADVL:c.1400T>C (p.Ile467Thr)_Likely PathogenicUnder 5 times27943070
ACADVL:c.1837C>T (p.Arg613Trp)_PathogenicACADVL:c.1541G>A (p.Gly514Glu)_Likely PathogenicUnder 5 times30194637
ACADVL:c.1837C>T (p.Arg613Trp)_Pathogenic*ACADVL:c.1605+3A>G (Intronic)_Uncertain Significance*Under 5 times
ACADVL:c.1837C>T (p.Arg613Trp)_PathogenicACADVL:c.1699_1700delinsTC (p.Arg567Ser)_Likely PathogenicUnder 5 times16183823
ACADVL:c.1837C>T (p.Arg613Trp)_PathogenicACADVL:c.1837C>T (p.Arg613Trp)_PathogenicUnder 5 times19327992, 33123633
ACADVL:c.1837C>T (p.Arg613Trp)_PathogenicACADVL:c.205-8_205-7delinsGC (Intronic)_Likely PathogenicUnder 5 times29111448, 33986768
ACADVL:c.1837C>T (p.Arg613Trp)_PathogenicACADVL:c.239G>A (p.Gly80Asp)_Likely PathogenicUnder 5 times30194637
ACADVL:c.1837C>T (p.Arg613Trp)_PathogenicACADVL:c.343-1del (Intronic)_Likely PathogenicUnder 5 times8554073, 7479827, 7769092, 4022672, 10077518
ACADVL:c.1837C>T (p.Arg613Trp)_PathogenicACADVL:c.685C>T (p.Arg229*)_PathogenicUnder 5 times17999356
ACADVL:c.1837C>T (p.Arg613Trp)_PathogenicACADVL:c.848T>C (p.Val283Ala)_PathogenicUnder 5 times30194637
ACADVL:c.1837C>T (p.Arg613Trp)_Pathogenic*ACADVL:c.956C>A (p.Ser319*)_Pathogenic*Under 5 times
ACADVL:c.1838G>A (p.Arg613Gln)_PathogenicACADVL:c.1678+4A>T (Intronic)_Uncertain SignificanceUnder 5 times30194637
ACADVL:c.1838G>A (p.Arg613Gln)_Pathogenic
CPT1A:c.1850G>A (p.Arg617Gln)_Uncertain Significance*		Under 5 times
ACADVL:c.1838G>C (p.Arg613Pro)_Likely PathogenicACADVL:c.1838G>C (p.Arg613Pro)_Likely PathogenicUnder 5 times16183823
ACADVL:c.1843C>T (p.Arg615*)_PathogenicACADVL:c.1292A>G (p.Asp431Gly)_Likely PathogenicUnder 5 times27029698
ACADVL:c.1843C>T (p.Arg615*)_PathogenicACADVL:c.? (p.Gly354Lys)_Uncertain SignificanceUnder 5 times11596652
ACADVL:c.1844G>A (p.Arg615Gln)_Likely PathogenicACADVL:c.911C>T (p.Ala304Val)_PathogenicUnder 5 times21932095
ACADVL:c.1894C>T (p.Arg632Cys)_Uncertain SignificanceACADVL:c.1968A>C (p.*656Cysext*54)_Uncertain SignificanceUnder 5 times27209629
ACADVL:c.1923G>C (p.Leu641Phe)_Likely Pathogenic
ACADVL:c.689C>T (p.Thr230Ile)_Uncertain Significance*		Under 5 times
ACADVL:c.1933_1934delinsAA (p.Gly645Asn)_Uncertain SignificanceACADVL:c.1037dup (p.Ala347Glyfs*12)_PathogenicUnder 5 times16183823
ACADVL:c.194C>T (p.Pro65Leu)_Conflict
ACADVL:c.739A>C (p.Lys247Gln)_Likely Pathogenic		ACADVL:c.194C>T (p.Pro65Leu)_Conflict
ACADVL:c.739A>C (p.Lys247Gln)_Likely Pathogenic		Under 5 times17999356, 10790204
ACADVL:c.199A>T (p.Lys67*)_PathogenicACADVL:c.1121A>C (p.His374Pro)_Likely PathogenicUnder 5 times30194637, 35281663
ACADVL:c.205-8_205-7delinsGC (Intronic)_Likely PathogenicACADVL:c.388_390del (p.Glu130del)_PathogenicUnder 5 times30194637
ACADVL:c.227G>A (p.Gly76Glu)_Likely PathogenicACADVL:c.227G>A (p.Gly76Glu)_Likely PathogenicUnder 5 times30194637
ACADVL:c.227G>A (p.Gly76Glu)_Likely PathogenicACADVL:c.614T>C (p.Leu205Pro)_Likely PathogenicUnder 5 times16860141, 16950999
ACADVL:c.253dup (p.Asp85Glyfs*19)_PathogenicACADVL:c.469A>G (p.Asn157Asp)_Likely PathogenicUnder 5 times31358473
ACADVL:c.265C>T (p.Pro89Ser)_PathogenicACADVL:c.? (p.Ala536Tyrfs*15)_PathogenicUnder 5 times25737446, 31844625
ACADVL:c.266C>A (p.Pro89Gln)_Likely PathogenicACADVL:c.? (p.Gly289Arg)_PathogenicUnder 5 times35400565
ACADVL:c.272C>A (p.Pro91Gln)_Likely PathogenicACADVL:c.577G>C (p.Gly193Arg)_Likely PathogenicUnder 5 times16435213, 17999356, 25737446, 25834949
ACADVL:c.272C>A (p.Pro91Gln)_Likely Pathogenic
ACADVL:c.1177A>G (p.Thr393Ala)_Uncertain Significance*		Under 5 times
ACADVL:c.272C>T (p.Pro91Leu)_Likely PathogenicACADVL:c.272C>T (p.Pro91Leu)_Likely PathogenicUnder 5 times23966064, 32558070
ACADVL:c.294_297del (p.Gln98Hisfs*18)_PathogenicACADVL:c.1182+1G>A (Intronic)_PathogenicUnder 5 times27209629
ACADVL:c.298_299del (p.Gln100Valfs*3)_PathogenicACADVL:c.298C>T (p.Gln100*)_PathogenicUnder 5 times24801231
ACADVL:c.305T>C (p.Leu102Pro)_Uncertain SignificanceACADVL:c.878+1G>C (Intronic)_PathogenicUnder 5 times35400565
ACADVL:c.307A>T (p.Lys103*)_PathogenicACADVL:c.? (p.Cys607Ser)_Likely PathogenicUnder 5 times35400565
ACADVL:c.329C>T (p.Ser110Phe)_Uncertain SignificanceACADVL:c.? (p.Met478Ile)_Uncertain SignificanceUnder 5 times35400565
ACADVL:c.339C>A (p.Phe113Leu)_Likely PathogenicACADVL:c.623G>A (p.Gly208Glu)_PathogenicUnder 5 times30194637
ACADVL:c.343del (p.Glu115Lysfs*2)_PathogenicACADVL:c.1146G>C (p.Lys382Asn)_PathogenicUnder 5 times23867825
ACADVL:c.343del (p.Glu115Lysfs*2)_PathogenicACADVL:c.1198G>A (p.Val400Met)_Likely PathogenicUnder 5 times34194748
ACADVL:c.343del (p.Glu115Lysfs*2)_PathogenicACADVL:c.1244C>T (p.Ala415Val)_Likely PathogenicUnder 5 times28871440, 32928639
ACADVL:c.343del (p.Glu115Lysfs*2)_PathogenicACADVL:c.343del (p.Glu115Lysfs*2)_PathogenicUnder 5 times35281659
ACADVL:c.364A>G (p.Asn122Asp)_PathogenicACADVL:c.1616C>A (p.Ala539Asp)_Likely PathogenicUnder 5 times27943070
ACADVL:c.364A>G (p.Asn122Asp)_PathogenicACADVL:c.364A>G (p.Asn122Asp)_PathogenicUnder 5 times16115821, 17999356, 20060901, 25737446, 34638902
ACADVL:c.378G>T (p.Glu126Asp)_Uncertain Significance
ACADVL:c.1064T>C (p.Ile355Thr)_Pathogenic*		Under 5 times
ACADVL:c.37C>T (p.Gln13*)_PathogenicACADVL:c.856A>G (p.Arg286Gly)_Likely PathogenicUnder 5 times17999356, 20060901
ACADVL:c.388_390del (p.Glu130del)_PathogenicACADVL:c.1621del (p.Glu541Serfs*11)_PathogenicUnder 5 times10077518
ACADVL:c.388_390del (p.Glu130del)_PathogenicACADVL:c.1843C>T (p.Arg615*)_PathogenicUnder 5 times10431122
ACADVL:c.388_390del (p.Glu130del)_PathogenicACADVL:c.277+2T>G (Intronic)_PathogenicUnder 5 times22847164
ACADVL:c.388_390del (p.Glu130del)_PathogenicACADVL:c.829_831del (p.Glu277del)_PathogenicUnder 5 times27209629
ACADVL:c.419G>A (p.Gly140Glu)_PathogenicACADVL:c.1800A>C (p.Lys600Asn)_Uncertain SignificanceUnder 5 times15210884
ACADVL:c.419G>A (p.Gly140Glu)_PathogenicACADVL:c.1800A>T (p.Lys600Asn)_Uncertain SignificanceUnder 5 times35400565
ACADVL:c.425T>C (p.Phe142Ser)_Likely PathogenicACADVL:c.425T>C (p.Phe142Ser)_Likely PathogenicUnder 5 times27629047
ACADVL:c.428G>A (p.Gly143Asp)_Likely Pathogenic
ACADVL:c.655C>A (p.Pro219Thr)_Pathogenic*		Under 5 times
ACADVL:c.439C>T (p.Pro147Ser)_Uncertain SignificanceACADVL:c.956C>A (p.Ser319*)_PathogenicUnder 5 times27209629
ACADVL:c.454G>A (p.Gly152Ser)_Likely PathogenicACADVL:c.996dup (p.Ala333Cysfs*26)_PathogenicUnder 5 times31844625, 35400565
ACADVL:c.455G>A (p.Gly152Asp)_Likely PathogenicACADVL:c.833_835del (p.Lys278del)_PathogenicUnder 5 times19327992
ACADVL:c.481G>A (p.Ala161Thr)_PathogenicACADVL:c.1711G>A (p.Gly571Arg)_Likely PathogenicUnder 5 times33123633
ACADVL:c.481G>A (p.Ala161Thr)_PathogenicACADVL:c.848T>C (p.Val283Ala)_PathogenicUnder 5 times16950999
ACADVL:c.481G>A (p.Ala161Thr)_Pathogenic
ACADVL:c.902G>A (p.Gly301Asp)_Likely Pathogenic*		Under 5 times
ACADVL:c.481G>A (p.Ala161Thr)_Pathogenic
CPT1A:c.1685G>C (p.Cys562Ser)_Uncertain Significance
ACADVL:c.1908dup (p.Ile637Hisfs*53)_Pathogenic*		Under 5 times
ACADVL:c.506T>C (p.Met169Thr)_Uncertain SignificanceACADVL:c.606_609del (p.Pro203Serfs*13)_PathogenicUnder 5 times33996489
ACADVL:c.514C>G (p.Leu172Val)_Likely PathogenicACADVL:c.623-18_623-16del (Intronic)_Uncertain SignificanceUnder 5 times31844625, 35400565
ACADVL:c.515T>C (p.Leu172Pro)_Likely PathogenicACADVL:c.1332+2T>A (Intronic)_PathogenicUnder 5 times30194637
ACADVL:c.515T>C (p.Leu172Pro)_Likely PathogenicACADVL:c.538G>A (p.Ala180Thr)_PathogenicUnder 5 times31844625, 35400565
ACADVL:c.515T>C (p.Leu172Pro)_Likely PathogenicACADVL:c.637G>A (p.Ala213Thr)_PathogenicUnder 5 times34638902
ACADVL:c.520G>A (p.Val174Met)_PathogenicACADVL:c.1097G>A (p.Arg366His)_Pathogenic
ACADVL:c.1844G>A (p.Arg615Gln)_Likely Pathogenic		Under 5 times28755359, 35281663
ACADVL:c.520G>A (p.Val174Met)_PathogenicACADVL:c.1181A>T (p.Glu394Val)_Uncertain SignificanceUnder 5 times35342266
ACADVL:c.520G>A (p.Val174Met)_PathogenicACADVL:c.1349G>A (p.Arg450His)_PathogenicUnder 5 times18670371
ACADVL:c.520G>A (p.Val174Met)_PathogenicACADVL:c.1825G>A (p.Glu609Lys)_Likely PathogenicUnder 5 times30445591, 34638902, 36078043
ACADVL:c.520G>A (p.Val174Met)_PathogenicACADVL:c.520G>A (p.Val174Met)_PathogenicUnder 5 times16115821, 17999356, 20060901, 21378393
ACADVL:c.520G>A (p.Val174Met)_PathogenicACADVL:c.622+1G>T (Intronic)_PathogenicUnder 5 times32061778
ACADVL:c.520G>A (p.Val174Met)_PathogenicACADVL:c.833_835del (p.Lys278del)_PathogenicUnder 5 times23430950, 26881790, 32463482
ACADVL:c.520G>A (p.Val174Met)_Pathogenic*ACADVL:c.869G>A (p.Gly290Asp)_Uncertain Significance*Under 5 times
ACADVL:c.520G>A (p.Val174Met)_Pathogenic*ACADVL:c.946C>T (p.Arg316Trp)_Pathogenic*Under 5 times
ACADVL:c.520G>A (p.Val174Met)_Pathogenic*ACADVL:c.965T>C (p.Val322Ala)_Pathogenic*Under 5 times
ACADVL:c.535G>T (p.Gly179Trp)_Uncertain SignificanceACADVL:c.1613G>C (p.Arg538Pro)_Likely PathogenicUnder 5 times19327992
ACADVL:c.538G>A (p.Ala180Thr)_PathogenicACADVL:c.1367G>A (p.Arg456His)_PathogenicUnder 5 times30194637
ACADVL:c.538G>A (p.Ala180Thr)_PathogenicACADVL:c.790A>G (p.Lys264Glu)_Likely PathogenicUnder 5 times35400565
ACADVL:c.538G>A (p.Ala180Thr)_Pathogenic*ACADVL:c.947G>A (p.Arg316Gln)_Pathogenic*Under 5 times
ACADVL:c.538G>A (p.Ala180Thr)_Pathogenic*HADHA:c.2020dup (p.Gln674Profs*11)_Pathogenic*Under 5 times
ACADVL:c.541C>T (p.His181Tyr)_Likely PathogenicACADVL:c.541C>T (p.His181Tyr)_Likely PathogenicUnder 5 times27943070
ACADVL:c.541dup (p.His181Profs*72)_PathogenicACADVL:c.1040C>T (p.Ala347Val)_Uncertain SignificanceUnder 5 times32061778
ACADVL:c.541dup (p.His181Profs*72)_PathogenicACADVL:c.1072A>G (p.Lys358Glu)_Likely PathogenicUnder 5 times32463482
ACADVL:c.553G>A (p.Gly185Ser)_Pathogenic*ACADVL:c.1043_1065dup (p.Ile356Trpfs*5)_Pathogenic*Under 5 times
ACADVL:c.553G>A (p.Gly185Ser)_PathogenicACADVL:c.1153C>T (p.Arg385Trp)_PathogenicUnder 5 times32655480
ACADVL:c.553G>A (p.Gly185Ser)_PathogenicACADVL:c.1246G>A (p.Ala416Thr)_PathogenicUnder 5 times35400565
ACADVL:c.553G>A (p.Gly185Ser)_PathogenicACADVL:c.1276G>A (p.Ala426Thr)_Likely PathogenicUnder 5 times28771436
ACADVL:c.553G>A (p.Gly185Ser)_PathogenicACADVL:c.753-2A>C (Intronic)_PathogenicUnder 5 times17999356, 21378393, 20060901
ACADVL:c.553G>A (p.Gly185Ser)_PathogenicACADVL:c.848T>C (p.Val283Ala)_PathogenicUnder 5 times31620161
ACADVL:c.553G>A (p.Gly185Ser)_PathogenicACADVL:c.878+1G>C (Intronic)_PathogenicUnder 5 times22841441, 31844625, 35400565
ACADVL:c.553G>A (p.Gly185Ser)_PathogenicACADVL:c.881G>A (p.Gly294Glu)_Likely PathogenicUnder 5 times17999356, 25737446
ACADVL:c.553G>A (p.Gly185Ser)_PathogenicACADVL:c.? (p.Cys607Ser)_Likely PathogenicUnder 5 times35400565
ACADVL:c.553G>A (p.Gly185Ser)_Pathogenic*SLC25A20:c.198+4G>A (Intronic)_Uncertain Significance*Under 5 times
ACADVL:c.563G>A (p.Gly188Asp)_Likely PathogenicACADVL:c.1280G>A (p.Trp427*)_PathogenicUnder 5 times31794763
ACADVL:c.566T>C (p.Ile189Thr)_Likely PathogenicACADVL:c.1182+1G>A (Intronic)_PathogenicUnder 5 times23480858
ACADVL:c.577G>C (p.Gly193Arg)_Likely PathogenicACADVL:c.577G>C (p.Gly193Arg)_Likely PathogenicUnder 5 times24305961
ACADVL:c.587C>T (p.Ala196Val)_Uncertain Significance
SLC25A20:c.226G>C (p.Ala76Pro)_Uncertain Significance*		Under 5 times
ACADVL:c.602A>G (p.Tyr201Cys)_PathogenicACADVL:c.1468G>C (p.Ala490Pro)_PathogenicUnder 5 times17457695, 14517516
ACADVL:c.605T>A (p.Leu202His)_Likely PathogenicACADVL:c.1182+1G>A (Intronic)_PathogenicUnder 5 times36109795
ACADVL:c.605T>A (p.Leu202His)_Likely PathogenicACADVL:c.1591C>T (p.Arg531Trp)_PathogenicUnder 5 times31031081
ACADVL:c.605T>C (p.Leu202Pro)_PathogenicACADVL:c.1837C>T (p.Arg613Trp)_PathogenicUnder 5 times34194748
ACADVL:c.605T>C (p.Leu202Pro)_PathogenicACADVL:c.848T>C (p.Val283Ala)_PathogenicUnder 5 times27209629
ACADVL:c.614T>G (p.Leu205Arg)_Likely PathogenicACADVL:c.? (p.Cys607Ser)_Likely PathogenicUnder 5 times35400565
ACADVL:c.619T>C (p.Ser207Pro)_PathogenicACADVL:c.1770_1773del (p.Ser590Argfs*89)_PathogenicUnder 5 times26927351
ACADVL:c.619T>C (p.Ser207Pro)_PathogenicACADVL:c.878+1G>C (Intronic)_PathogenicUnder 5 times26927351
ACADVL:c.622G>A (p.Gly208Arg)_Likely PathogenicACADVL:c.689C>T (p.Thr230Ile)_Uncertain SignificanceUnder 5 times27209629
ACADVL:c.637G>A (p.Ala213Thr)_Pathogenic*ACADVL:c.1001T>G (p.Met334Arg)_Pathogenic
ACADVL:c.1370T>C (p.Ile457Thr)_Uncertain Significance*		Under 5 times
ACADVL:c.637G>A (p.Ala213Thr)_PathogenicACADVL:c.1065_1067del (p.Ile356del)_Likely PathogenicUnder 5 times28871440, 32928639
ACADVL:c.637G>A (p.Ala213Thr)_Pathogenic*ACADVL:c.1370T>C (p.Ile457Thr)_Uncertain Significance
ACADVL:c.505A>G (p.Met169Val)_Uncertain Significance*		Under 5 times
ACADVL:c.637G>A (p.Ala213Thr)_PathogenicACADVL:c.637G>A (p.Ala213Thr)_PathogenicUnder 5 times12213615, 9164788, 12213615
ACADVL:c.637G>C (p.Ala213Pro)_Likely PathogenicACADVL:c.637G>C (p.Ala213Pro)_Likely PathogenicUnder 5 times10077518
ACADVL:c.642_643del (p.Phe214Leufs*38)_PathogenicACADVL:c.1349G>A (p.Arg450His)_PathogenicUnder 5 times31620161
ACADVL:c.642_643del (p.Phe214Leufs*38)_PathogenicACADVL:c.642_643del (p.Phe214Leufs*38)_PathogenicUnder 5 times34465376
ACADVL:c.643T>C (p.Cys215Arg)_PathogenicACADVL:c.643T>C (p.Cys215Arg)_PathogenicUnder 5 times24305961, 25834949, 28755359, 32061778
ACADVL:c.644_647del (p.Cys215*)_PathogenicACADVL:c.1144A>C (p.Lys382Gln)_PathogenicUnder 5 times15210884
ACADVL:c.644_647del (p.Cys215*)_PathogenicACADVL:c.1349G>A (p.Arg450His)_PathogenicUnder 5 times15210884
ACADVL:c.652G>A (p.Glu218Lys)_PathogenicACADVL:c.652G>A (p.Glu218Lys)_PathogenicUnder 5 times34184355
ACADVL:c.652G>A (p.Glu218Lys)_Pathogenic
ACADVL:c.497_498del (p.Ile166Serfs*5)_Pathogenic*		Under 5 times
ACADVL:c.65C>A (p.Ser22*)_PathogenicACADVL:c.1280G>A (p.Trp427*)_PathogenicUnder 5 times24801231
ACADVL:c.65C>A (p.Ser22*)_PathogenicACADVL:c.65C>A (p.Ser22*)_PathogenicMore than 30 timesElevated circulating creatine kinase concentration (3), Rhabdomyolysis (3), Cardiomyopathy (1)10790204, 33549744, 28980192, 29789446, 32518924
ACADVL:c.661A>G (p.Ser221Gly)_Uncertain SignificanceACADVL:c.848T>C (p.Val283Ala)_PathogenicUnder 5 times33986768
ACADVL:c.664G>A (p.Gly222Arg)_PathogenicACADVL:c.1512G>C (p.Glu504Asp)_Likely PathogenicUnder 5 times16443431
ACADVL:c.664G>A (p.Gly222Arg)_PathogenicACADVL:c.1512G>T (p.Glu504Asp)_Likely PathogenicUnder 5 times17999356, 21378393, 24898617
ACADVL:c.664G>A (p.Gly222Arg)_PathogenicACADVL:c.664G>A (p.Gly222Arg)_PathogenicUnder 5 times17999356, 20060901
ACADVL:c.664G>C (p.Gly222Arg)_PathogenicACADVL:c.1605+1G>T (Intronic)_PathogenicUnder 5 times24801231
ACADVL:c.664G>C (p.Gly222Arg)_PathogenicACADVL:c.878+3G>T (Intronic)_Uncertain SignificanceUnder 5 times31844625
ACADVL:c.664G>C (p.Gly222Arg)_PathogenicACADVL:c.896A>T (p.Lys299Met)_PathogenicUnder 5 times25652019
ACADVL:c.685C>T (p.Arg229*)_PathogenicACADVL:c.1144A>C (p.Lys382Gln)_PathogenicUnder 5 times31497477, 35400565
ACADVL:c.685C>T (p.Arg229*)_PathogenicACADVL:c.1711G>A (p.Gly571Arg)_Likely PathogenicUnder 5 times27246109
ACADVL:c.685C>T (p.Arg229*)_PathogenicACADVL:c.685C>T (p.Arg229*)_PathogenicUnder 5 times26404456, 33549744
ACADVL:c.689C>T (p.Thr230Ile)_Uncertain SignificanceACADVL:c.428_467del (p.Gly143Alafs*61)_PathogenicUnder 5 times26404456, 33549744
ACADVL:c.694G>A (p.Ala232Thr)_Likely PathogenicACADVL:c.1388G>A (p.Gly463Glu)_Likely PathogenicUnder 5 times16895136, 28871440, 32928639
ACADVL:c.709T>C (p.Cys237Arg)_Likely PathogenicACADVL:c.1532G>A (p.Arg511Gln)_PathogenicUnder 5 times18670371
ACADVL:c.709T>C (p.Cys237Arg)_Likely PathogenicACADVL:c.709T>C (p.Cys237Arg)_Likely PathogenicUnder 5 times35400565
ACADVL:c.711_712del (p.Cys237Trpfs*15)_Pathogenic*ACADVL:c.711_712del (p.Cys237Trpfs*15)_Pathogenic*Under 5 times
ACADVL:c.727C>T (p.Leu243Phe)_PathogenicACADVL:c.1639G>A (p.Val547Met)_PathogenicUnder 5 times29552494, 30023301, 31372341, 30023301, 35400565
ACADVL:c.739A>G (p.Lys247Glu)_Likely PathogenicACADVL:c.896_898del (p.Lys299del)_PathogenicUnder 5 times10077518
ACADVL:c.761G>A (p.Gly254Asp)_PathogenicACADVL:c.761G>A (p.Gly254Asp)_PathogenicUnder 5 times28755359, 35281663
ACADVL:c.770del (p.Asp257Alafs*19)_PathogenicACADVL:c.1613G>C (p.Arg538Pro)_Likely PathogenicUnder 5 times27209629, 34194748
ACADVL:c.773T>C (p.Ile258Thr)_PathogenicACADVL:c.1358G>A (p.Arg453Gln)_PathogenicUnder 5 times33986768
ACADVL:c.773T>C (p.Ile258Thr)_PathogenicACADVL:c.865G>A (p.Gly289Arg)_PathogenicUnder 5 times30194637
ACADVL:c.778A>C (p.Thr260Pro)_Likely PathogenicACADVL:c.? (p.Cys607Ser)_Likely PathogenicUnder 5 times35400565
ACADVL:c.778_779dup (p.Val261Argfs*16)_PathogenicACADVL:c.778_779dup (p.Val261Argfs*16)_PathogenicUnder 5 times27943070
ACADVL:c.779C>T (p.Thr260Met)_PathogenicACADVL:c.1246G>A (p.Ala416Thr)_PathogenicUnder 5 times35400565
ACADVL:c.779C>T (p.Thr260Met)_PathogenicACADVL:c.1443A>T (p.Gly481=)_Uncertain SignificanceUnder 5 times27943070
ACADVL:c.779C>T (p.Thr260Met)_PathogenicACADVL:c.1500_1502del (p.Leu502del)_PathogenicUnder 5 times19327992
ACADVL:c.779C>T (p.Thr260Met)_PathogenicACADVL:c.1700G>A (p.Arg567Gln)_PathogenicUnder 5 times29268767
ACADVL:c.779C>T (p.Thr260Met)_PathogenicACADVL:c.1733T>C (p.Met578Thr)_Uncertain SignificanceUnder 5 times36109795
ACADVL:c.779C>T (p.Thr260Met)_PathogenicACADVL:c.1918_1921del (p.Ala640Trpfs*39)_PathogenicUnder 5 times17999356, 20060901
ACADVL:c.779C>T (p.Thr260Met)_PathogenicACADVL:c.779C>T (p.Thr260Met)_PathogenicUnder 5 times16950999, 19327992, 30194637, 32518924
ACADVL:c.779C>T (p.Thr260Met)_PathogenicACADVL:c.842C>A (p.Ala281Asp)_PathogenicUnder 5 times19327992, 27943070, 7583594, 8422439, 8845838, 19327992
ACADVL:c.779C>T (p.Thr260Met)_Pathogenic*ACADVL:c.887_888del (p.Pro296Argfs*17)_Pathogenic*Under 5 times
ACADVL:c.779C>T (p.Thr260Met)_PathogenicACADVL:c.896_898del (p.Lys299del)_PathogenicUnder 5 times10077518
ACADVL:c.779C>T (p.Thr260Met)_PathogenicACADVL:c.996dup (p.Ala333Cysfs*26)_PathogenicUnder 5 times35400565
ACADVL:c.779C>T (p.Thr260Met)_Pathogenic*HADHB:c.397A>G (p.Thr133Ala)_Uncertain Significance
ACADVL:c.877del (p.His293Metfs*60)_Pathogenic*		Under 5 times
ACADVL:c.790A>G (p.Lys264Glu)_Likely PathogenicACADVL:c.1153C>T (p.Arg385Trp)_PathogenicUnder 5 times15210884, 35400565
ACADVL:c.790A>G (p.Lys264Glu)_Likely PathogenicACADVL:c.1246G>A (p.Ala416Thr)_PathogenicUnder 5 times15210884, 35400565
ACADVL:c.790A>G (p.Lys264Glu)_Likely PathogenicACADVL:c.1309A>G (p.Met437Val)_Likely PathogenicUnder 5 times11914034, 17999356, 21378393, 31844625, 35400565
ACADVL:c.790A>G (p.Lys264Glu)_Likely PathogenicACADVL:c.1349G>A (p.Arg450His)_PathogenicUnder 5 times15210884, 35400565
ACADVL:c.790A>G (p.Lys264Glu)_Likely PathogenicACADVL:c.1748C>T (p.Ser583Leu)_PathogenicUnder 5 times15210884
ACADVL:c.790A>G (p.Lys264Glu)_Likely PathogenicACADVL:c.790A>G (p.Lys264Glu)_Likely Pathogenic5-10 timesMyalgia (1), Myopathy (1)15210884, 17999356, 21378393, 31844625, 35400565
ACADVL:c.790A>G (p.Lys264Glu)_Likely PathogenicACADVL:c.833_835del (p.Lys278del)_PathogenicUnder 5 times16895136
ACADVL:c.790A>G (p.Lys264Glu)_Likely PathogenicACADVL:c.996dup (p.Ala333Cysfs*26)_PathogenicUnder 5 times35400565
ACADVL:c.790A>G (p.Lys264Glu)_Likely PathogenicACADVL:c.? (p.Cys607Ser)_Likely PathogenicUnder 5 times35400565
ACADVL:c.796C>G (p.Pro266Ala)_Uncertain SignificanceACADVL:c.1153C>T (p.Arg385Trp)_PathogenicUnder 5 times25655073
ACADVL:c.799_802del (p.Val267Glnfs*8)_PathogenicACADVL:c.799_802del (p.Val267Glnfs*8)_PathogenicUnder 5 times10790204, 11914034, 33549744, 28283530
ACADVL:c.829_831del (p.Glu277del)_Pathogenic*ACADVL:c.1096C>T (p.Arg366Cys)_Pathogenic*Under 5 times
ACADVL:c.829_831del (p.Glu277del)_PathogenicACADVL:c.1370T>A (p.Ile457Asn)_Uncertain SignificanceUnder 5 times23430948
ACADVL:c.829_831del (p.Glu277del)_PathogenicACADVL:c.829_831del (p.Glu277del)_PathogenicUnder 5 times32518924
ACADVL:c.829_831del (p.Glu277del)_PathogenicACADVL:c.848T>C (p.Val283Ala)_Pathogenic
ACADVL:c.950T>C (p.Val317Ala)_Uncertain Significance		Under 5 times27209629
ACADVL:c.833_835del (p.Lys278del)_PathogenicACADVL:c.1376G>A (p.Arg459Gln)_PathogenicUnder 5 times19327992
ACADVL:c.833_835del (p.Lys278del)_PathogenicACADVL:c.833_835del (p.Lys278del)_PathogenicUnder 5 times24305961
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.104del (p.Pro35Leufs*26)_PathogenicUnder 5 times25834949, 27518779, 32061778
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.1072A>G (p.Lys358Glu)_Likely PathogenicUnder 5 times21932095
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.1081G>A (p.Asp361Asn)_Likely PathogenicUnder 5 times32061778
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.1097G>A (p.Arg366His)_PathogenicUnder 5 times27246109
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.1097G>A (p.Arg366His)_Pathogenic
ACADVL:c.950T>C (p.Val317Ala)_Uncertain Significance		Under 5 times27246109
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.1141_1143del (p.Glu381del)_PathogenicUnder 5 times25834949, 32276429, 33597881, 32463482
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic*ACADVL:c.1146G>C (p.Lys382Asn)_Pathogenic*Under 5 times
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.1153C>T (p.Arg385Trp)_PathogenicUnder 5 times23798014
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.1177A>G (p.Thr393Ala)_Uncertain SignificanceUnder 5 times33123633
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic*ACADVL:c.1182+1G>A (Intronic)_Pathogenic*Under 5 times
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.1182+3G>T (Intronic)_Uncertain SignificanceUnder 5 times23480858, 27209629, 30445591, 34194748
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.1220G>C (p.Gly407Ala)_Pathogenic5-10 times23798014, 28755359, 35281663
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic*ACADVL:c.1226C>T (p.Thr409Met)_Pathogenic*Under 5 times
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.1253G>A (p.Ser418Asn)_Likely PathogenicUnder 5 times30194637
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.1258A>C (p.Ile420Leu)_PathogenicUnder 5 times23480858, 36078043
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.1270G>A (p.Glu424Lys)_Uncertain SignificanceUnder 5 times23798014
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.1273G>A (p.Ala425Thr)_PathogenicUnder 5 times27209629
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.1316G>A (p.Gly439Asp)_PathogenicUnder 5 times31031081
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.1316del (p.Gly439Valfs*5)_PathogenicUnder 5 times30194637
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.1322G>A (p.Gly441Asp)_Pathogenic5-10 timesElevated circulating creatine kinase concentration (3), Exercise intolerance (1), Fever (1), Hypoglycemia (1), Hypotonia (1), Lethargy (1), Limpness in extremiti....16443431, 32558070, 17999356, 21378393, 19333779, 25834949, 32061778
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.1357C>T (p.Arg453*)_PathogenicUnder 5 times29268767
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.1366C>G (p.Arg456Gly)_Likely PathogenicUnder 5 times32061778
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.1375dup (p.Arg459Profs*4)_PathogenicUnder 5 times36109795
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.1376G>A (p.Arg459Gln)_Pathogenic5-10 times14517516, 21429517, 30194637
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.1384G>A (p.Glu462Lys)_Likely PathogenicUnder 5 times17999356, 21378393
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.1405C>T (p.Arg469Trp)_PathogenicUnder 5 times27246109
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic*ACADVL:c.1434+14T>C (Intronic)_Uncertain Significance*Under 5 times
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.1444_1448del (p.Lys482Alafs*78)_Pathogenic
ACADVL:c.1511_1516del (p.Glu504_Ala505del)_Pathogenic		Under 5 times25834949, 26881790, 32463482
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic*ACADVL:c.1467T>G (p.Ser489Arg)_Uncertain Significance*Under 5 times
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.1468G>C (p.Ala490Pro)_PathogenicUnder 5 times10077518
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.1500_1502del (p.Leu502del)_PathogenicUnder 5 times30194637
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.1505T>C (p.Leu502Pro)_Likely PathogenicUnder 5 times27209629
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.1511_1516del (p.Glu504_Ala505del)_Pathogenic
ACADVL:c.1444_1448del (p.Lys482Alafs*78)_Pathogenic		Under 5 times32463482
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.1532G>C (p.Arg511Pro)_Likely PathogenicUnder 5 times27209629
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic*ACADVL:c.1591C>T (p.Arg531Trp)_Pathogenic
ACADVL:c.950T>C (p.Val317Ala)_Uncertain Significance*		Under 5 times
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.1699C>T (p.Arg567Trp)_Likely PathogenicUnder 5 times35281659
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.1700G>A (p.Arg567Gln)_PathogenicUnder 5 times32061778
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.1748C>T (p.Ser583Leu)_PathogenicUnder 5 times23774949
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.1814_1815del (p.Thr605Metfs*19)_PathogenicUnder 5 times30194637
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.1816T>C (p.Trp606Arg)_Uncertain SignificanceUnder 5 times35281659
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic*ACADVL:c.1826A>C (p.Glu609Ala)_Uncertain Significance*Under 5 times
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.1837C>T (p.Arg613Trp)_PathogenicUnder 5 times35281659
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.1838G>A (p.Arg613Gln)_PathogenicUnder 5 times35281659
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.1838G>C (p.Arg613Pro)_Likely PathogenicUnder 5 times35281659
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.1923G>C (p.Leu641Phe)_Likely PathogenicUnder 5 times27246109
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.1924G>A (p.Val642Met)_Uncertain SignificanceUnder 5 times31031081
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic*ACADVL:c.199A>T (p.Lys67*)_Pathogenic*Under 5 times
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.253dup (p.Asp85Glyfs*19)_PathogenicUnder 5 times27209629
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.260T>C (p.Val87Ala)_Likely PathogenicUnder 5 times30194637
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.277G>A (p.Val93Met)_Likely PathogenicUnder 5 times32061778
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.331C>T (p.Arg111Cys)_Uncertain SignificanceUnder 5 times30194637
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.335del (p.Phe112Serfs*5)_PathogenicUnder 5 times35281659
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.339C>A (p.Phe113Leu)_Likely PathogenicUnder 5 times21932095
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.342+1G>C (Intronic)_PathogenicUnder 5 times20060901
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.343-1G>A (Intronic)_PathogenicUnder 5 times31983732
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.343del (p.Glu115Lysfs*2)_PathogenicUnder 5 times27246109
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.388_390del (p.Glu130del)_PathogenicUnder 5 times30194637
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.476A>G (p.Gln159Arg)_PathogenicUnder 5 times25456746, 27246109
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic*ACADVL:c.491T>G (p.Val164Gly)_Likely Pathogenic*Under 5 times
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.495G>T (p.Glu165Asp)_Uncertain SignificanceUnder 5 times33123633
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.552del (p.Ile184Metfs*33)_PathogenicUnder 5 times24503138
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.605T>C (p.Leu202Pro)_PathogenicUnder 5 times30194637
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.623-21A>G (Intronic)_Uncertain SignificanceUnder 5 times31031081
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic*ACADVL:c.637G>A (p.Ala213Thr)_Pathogenic*Under 5 times
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.652G>A (p.Glu218Lys)_PathogenicUnder 5 times30194637
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.685C>T (p.Arg229*)_PathogenicUnder 5 times28755359, 35281663
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.694G>A (p.Ala232Thr)_Likely PathogenicUnder 5 times23798014
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.751A>G (p.Ser251Gly)_Uncertain SignificanceUnder 5 times26937394
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.753-2A>C (Intronic)_PathogenicUnder 5 times16488171, 27246109
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.770del (p.Asp257Alafs*19)_PathogenicUnder 5 times12682504
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.779C>T (p.Thr260Met)_PathogenicUnder 5 times30194637
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.829_831del (p.Glu277del)_Pathogenic5-10 times30194637, 32061778
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.833_835del (p.Lys278del)_PathogenicUnder 5 times30194637
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.848T>C (p.Val283Ala)_PathogenicMore than 30 timesElevated circulating creatine kinase concentration (3), Cardiac-other (2), Decreased body weight (2), Hyperbilirubinemia (2), Hypoglycemia (2), Myalgia (2), Autism/behavior (1), Constipation (1), Dehydration (1), Fever (1), Left aortic arch with aberrant right subclavian artery (1), Lethargy (1), Prematurity (1), Pulmonary/respiratory (1), Speech -language delay (1), Vomiting (1)14517516, 16115821, 16488171, 27246109, 17999356, 20547398, 21378393, 21932095, 23798014, 24898617, 25085675, 26385305, 26453363, 28755359, 29268767, 30194637, 30761551, 31031081, 32061778, 32793418, 33123633, 33549744, 35281659, 35281663
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic*ACADVL:c.848T>C (p.Val283Ala)_Pathogenic
HADHA:c.325G>A (p.Ala109Thr)_Uncertain Significance*		Under 5 times
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.865G>A (p.Gly289Arg)_Pathogenic5-10 times14517516, 23480858, 27246109, 33123633
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.879-8T>A (Intronic)_Uncertain SignificanceUnder 5 times19208414, 20668464, 32558070
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.883C>A (p.Pro295Thr)_Likely PathogenicUnder 5 times30194637
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic*ACADVL:c.889_891del (p.Glu297del)_Uncertain Significance*Under 5 times
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.896A>T (p.Lys299Met)_PathogenicUnder 5 times30194637, 35281659
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic*ACADVL:c.938_940del (p.Asp313del)_Uncertain Significance*Under 5 times
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic*ACADVL:c.950T>C (p.Val317Ala)_Uncertain Significance*Under 5 times
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.957G>A (p.Ser319=)_Uncertain SignificanceUnder 5 times30194637
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.963C>A (p.Asn321Lys)_Uncertain SignificanceUnder 5 times35281659
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.996del (p.Ala333Profs*20)_PathogenicUnder 5 times28755359, 35281663
ACADVL:c.848T>C (p.Val283Ala)_PathogenicACADVL:c.? (p.Pro89Hisfs*28)_PathogenicUnder 5 times26453363
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic*CPT1A:c.2142G>A (p.Pro714=)_Uncertain Significance*Under 5 times
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic*CPT1A:c.319G>A (p.Gly107Ser)_Uncertain Significance*Under 5 times
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic*CPT2:c.748_749del (p.Asn250Phefs*5)_Pathogenic
CPT2:c.1460A>C (p.Glu487Ala)_Pathogenic*		Under 5 times
ACADVL:c.848T>C (p.Val283Ala)_Pathogenic
ACADVL:c.950T>C (p.Val317Ala)_Uncertain Significance		ACADVL:c.1096C>T (p.Arg366Cys)_PathogenicUnder 5 times8845838
ACADVL:c.854A>G (p.Glu285Gly)_Likely PathogenicACADVL:c.1198G>A (p.Val400Met)_Likely PathogenicUnder 5 times27538624, 29552494, 31372341, 35400565
ACADVL:c.864C>T (p.Phe288Phe)_Uncertain SignificanceACADVL:c.848T>C (p.Val283Ala)_PathogenicUnder 5 times33549744
ACADVL:c.864C>T (p.Phe288Phe)_Uncertain SignificanceACADVL:c.864C>T (p.Phe288Phe)_Uncertain SignificanceUnder 5 times30194637
ACADVL:c.864dup (p.Gly289Argfs*9)_PathogenicACADVL:c.887_888del (p.Pro296Argfs*17)_PathogenicUnder 5 times30194637
ACADVL:c.865G>A (p.Gly289Arg)_PathogenicACADVL:c.1376G>A (p.Arg459Gln)_PathogenicUnder 5 times23798014
ACADVL:c.865G>A (p.Gly289Arg)_PathogenicACADVL:c.1501C>T (p.Leu501Leu)_Uncertain SignificanceUnder 5 times27209629
ACADVL:c.865G>A (p.Gly289Arg)_PathogenicACADVL:c.1592G>T (p.Arg531Leu)_Likely PathogenicUnder 5 times27209629
ACADVL:c.865G>A (p.Gly289Arg)_PathogenicACADVL:c.552del (p.Ile184Metfs*33)_PathogenicUnder 5 times31031081
ACADVL:c.865G>A (p.Gly289Arg)_PathogenicACADVL:c.561A>C (p.Lys187Asn)_Likely PathogenicUnder 5 times30194637
ACADVL:c.865G>A (p.Gly289Arg)_PathogenicACADVL:c.848T>C (p.Val283Ala)_PathogenicUnder 5 times23798014
ACADVL:c.869del (p.Gly290Alafs*63)_PathogenicACADVL:c.1097G>A (p.Arg366His)_PathogenicUnder 5 times32558070
ACADVL:c.869del (p.Gly290Alafs*63)_PathogenicACADVL:c.1310T>C (p.Met437Thr)_PathogenicUnder 5 times32558070
ACADVL:c.877C>T (p.His293Tyr)_Likely PathogenicACADVL:c.1322G>A (p.Gly441Asp)_PathogenicUnder 5 times25834949
ACADVL:c.881G>A (p.Gly294Glu)_Likely PathogenicACADVL:c.869G>A (p.Gly290Asp)_Uncertain SignificanceUnder 5 times12208138
ACADVL:c.887_888del (p.Pro296Argfs*17)_Pathogenic*ACADVL:c.1182+3G>T (Intronic)_Uncertain Significance*Under 5 times
ACADVL:c.887_888del (p.Pro296Argfs*17)_PathogenicACADVL:c.1679-6G>A (Intronic)_PathogenicUnder 5 times12122118, 27590926, 23480858, 34194748
ACADVL:c.887_888del (p.Pro296Argfs*17)_PathogenicACADVL:c.887_888del (p.Pro296Argfs*17)_PathogenicUnder 5 times31620161, 31737040
ACADVL:c.889_891del (p.Glu297del)_Uncertain SignificanceACADVL:c.1246G>T (p.Ala416Ser)_Likely PathogenicUnder 5 times25456746, 27246109
ACADVL:c.896A>T (p.Lys299Met)_PathogenicACADVL:c.1505T>A (p.Leu502Gln)_Likely PathogenicUnder 5 times16880373, 17999356
ACADVL:c.896A>T (p.Lys299Met)_PathogenicACADVL:c.1894C>T (p.Arg632Cys)_Uncertain SignificanceUnder 5 times35281659
ACADVL:c.896A>T (p.Lys299Met)_PathogenicACADVL:c.298_299del (p.Gln100Valfs*3)_PathogenicUnder 5 times31794763
ACADVL:c.896_898del (p.Lys299del)_PathogenicACADVL:c.1147C>G (p.Leu383Val)_Uncertain SignificanceUnder 5 times36078043
ACADVL:c.896_898del (p.Lys299del)_PathogenicACADVL:c.520G>A (p.Val174Met)_PathogenicUnder 5 times30904546
ACADVL:c.896_898del (p.Lys299del)_PathogenicACADVL:c.623-2A>C (Intronic)_PathogenicUnder 5 times10077518
ACADVL:c.896_898del (p.Lys299del)_PathogenicACADVL:c.753-2A>C (Intronic)_PathogenicUnder 5 times10738914
ACADVL:c.896_898del (p.Lys299del)_Pathogenic*HADHB:c.640G>A (p.Val214Ile)_Uncertain Significance*Under 5 times
ACADVL:c.898A>C (p.Met300Leu)_Likely PathogenicACADVL:c.1097G>A (p.Arg366His)_PathogenicUnder 5 times32928639
ACADVL:c.898A>G (p.Met300Val)_PathogenicACADVL:c.1532G>A (p.Arg511Gln)_PathogenicUnder 5 times27209629
ACADVL:c.899T>C (p.Met300Thr)_Likely PathogenicACADVL:c.899T>C (p.Met300Thr)_Likely PathogenicUnder 5 times27943070
ACADVL:c.900G>A (p.Met300Ile)_Likely PathogenicACADVL:c.900G>A (p.Met300Ile)_Likely PathogenicUnder 5 times32558070
ACADVL:c.911C>T (p.Ala304Val)_PathogenicACADVL:c.911C>T (p.Ala304Val)_PathogenicUnder 5 times32558070
ACADVL:c.925G>A (p.Glu309Lys)_PathogenicACADVL:c.925G>A (p.Glu309Lys)_PathogenicUnder 5 times34638902
ACADVL:c.925G>A (p.Glu309Lys)_Pathogenic
ACADVL:c.922G>T (p.Ala308Ser)_Likely Pathogenic
ACADVL:c.928G>C (p.Val310Leu)_Likely Pathogenic		Under 5 times21932095, 20547398
ACADVL:c.932del (p.Phe311Serfs*42)_PathogenicACADVL:c.623-1G>A (Intronic)_PathogenicUnder 5 times10077518
ACADVL:c.947G>A (p.Arg316Gln)_Pathogenic*ACADVL:c.1322G>C (p.Gly441Ala)_Pathogenic*Under 5 times
ACADVL:c.947G>A (p.Arg316Gln)_Pathogenic*ACADVL:c.947G>A (p.Arg316Gln)_Pathogenic*Under 5 times
ACADVL:c.950T>C (p.Val317Ala)_Uncertain SignificanceACADVL:c.950T>C (p.Val317Ala)_Uncertain SignificanceUnder 5 times9973285
ACADVL:c.953C>T (p.Pro318Leu)_PathogenicACADVL:c.1194C>A (p.Tyr398*)_PathogenicUnder 5 times10529389
ACADVL:c.961A>G (p.Asn321Asp)_Uncertain SignificanceACADVL:c.1751+1G>A (Intronic)_PathogenicUnder 5 times23700290
ACADVL:c.996dup (p.Ala333Cysfs*26)_PathogenicACADVL:c.1009C>T (p.Leu337Phe)_PathogenicUnder 5 times25242572
ACADVL:c.996dup (p.Ala333Cysfs*26)_PathogenicACADVL:c.1639G>A (p.Val547Met)_PathogenicUnder 5 times18670371
ACADVL:c.996dup (p.Ala333Cysfs*26)_PathogenicACADVL:c.552C>G (p.Ile184Met)_Uncertain SignificanceUnder 5 times29519241
ACADVL:c.996dup (p.Ala333Cysfs*26)_Pathogenic*CPT1A:c.1518C>T (p.Gly506=)_Uncertain Significance*Under 5 times
ACADVL:c.997_998insT (p.Ala333Valfs*26)_PathogenicACADVL:c.1770_1773del (p.Ser590Argfs*89)_PathogenicUnder 5 times29519241
ACADVL:c.997_998insT (p.Ala333Valfs*26)_PathogenicACADVL:c.454G>A (p.Gly152Ser)_Likely PathogenicUnder 5 times22841441
ACADVL:c.997_998insT (p.Ala333Valfs*26)_PathogenicACADVL:c.790A>G (p.Lys264Glu)_Likely PathogenicUnder 5 times17999356, 19589468, 22841441
ACADVL:c.? (p.Ala281Gly)_Likely PathogenicACADVL:c.1246G>A (p.Ala416Thr)_PathogenicUnder 5 times35400565
ACADVL:c.? (p.Cys607Ser)_Likely PathogenicACADVL:c.778A>C (p.Thr260Pro)_Likely PathogenicUnder 5 times31844625
ACADVL:c.? (p.Cys607Ser)_Likely PathogenicACADVL:c.? (p.Cys607Ser)_Likely PathogenicUnder 5 times31844625, 35400565
ACADVL:c.? (p.Gly289Arg)_PathogenicACADVL:c.623G>A (p.Gly208Glu)_PathogenicUnder 5 times20547398
ACADVL:c.? (p.Gly289Arg)_PathogenicACADVL:c.? (p.Cys607Ser)_Likely PathogenicUnder 5 times35400565
ACADVL:c.? (p.Gly481Asp)_Likely PathogenicACADVL:c.848T>C (p.Val283Ala)_PathogenicUnder 5 times16950999
ACADVL:c.? (p.Met478Ile)_Uncertain SignificanceACADVL:c.1532G>A (p.Arg511Gln)_PathogenicUnder 5 times35400565
ACADVL:c.? (p.Phe112Leu)_Likely PathogenicACADVL:c.1349G>A (p.Arg450His)_PathogenicUnder 5 times35400565
ACADVL:c.? (p.Trp249Arg)_Uncertain SignificanceACADVL:c.? (p.Cys607Ser)_Likely PathogenicUnder 5 times35400565
CPT1A:c.100T>C (p.Ser34Pro)_Uncertain SignificanceCPT1A:c.100T>C (p.Ser34Pro)_Uncertain Significance21-30 times35822099
CPT1A:c.1015C>T (p.Arg339*)_PathogenicCPT1A:c.748G>T (p.Val250Leu)_Uncertain SignificanceUnder 5 times29519241
CPT1A:c.1027T>G (p.Phe343Val)_Likely PathogenicCPT1A:c.1027T>G (p.Phe343Val)_Likely PathogenicUnder 5 times15110323
CPT1A:c.1069C>T (p.Arg357Trp)_Likely PathogenicCPT1A:c.1069C>T (p.Arg357Trp)_Likely PathogenicUnder 5 times11441142
CPT1A:c.1069C>T (p.Arg357Trp)_Likely PathogenicCPT1A:c.1451T>C (p.Leu484Pro)_Likely PathogenicUnder 5 times3211616, 11441142
CPT1A:c.1079A>G (p.Glu360Gly)_Likely PathogenicCPT1A:c.96T>G (p.Tyr32*)_PathogenicUnder 5 times12111367
CPT1A:c.1131G>C (p.Glu377Asp)_Likely PathogenicCPT1A:c.272T>C (p.Leu91Pro)_Likely PathogenicUnder 5 times34869124
CPT1A:c.1163+1G>A (Intronic)_PathogenicCPT1A:c.1163+1G>A (Intronic)_PathogenicUnder 5 times28748224
CPT1A:c.1163+1G>A (Intronic)_PathogenicCPT1A:c.1393G>A (p.Gly465Arg)_Likely PathogenicUnder 5 times27066452
CPT1A:c.1184_1186del (p.Arg395del)_Likely PathogenicCPT1A:c.1184_1186del (p.Arg395del)_Likely PathogenicUnder 5 times11441142
CPT1A:c.1241C>T (p.Ala414Val)_PathogenicCPT1A:c.1241C>T (p.Ala414Val)_PathogenicUnder 5 times27295194
CPT1A:c.1318G>A (p.Ala440Thr)_Likely PathogenicCPT1A:c.1318G>A (p.Ala440Thr)_Likely PathogenicUnder 5 times27295194
CPT1A:c.1328T>C (p.Leu443Pro)_Likely PathogenicCPT1A:c.1328T>C (p.Leu443Pro)_Likely PathogenicUnder 5 times35360862
CPT1A:c.1336G>A (p.Gly446Ser)_Likely PathogenicCPT1A:c.734G>A (p.Arg245Gln)_Likely PathogenicUnder 5 times30904546
CPT1A:c.1361A>G (p.Asp454Gly)_Likely PathogenicCPT1A:c.1361A>G (p.Asp454Gly)_Likely PathogenicUnder 5 times9691089
CPT1A:c.1364A>C (p.Lys455Thr)_PathogenicCPT1A:c.1364A>C (p.Lys455Thr)_Pathogenic5-10 timesHypoglycemia (3), Abnormality of metabolism/homeostasis (2), Liver abnormality (....15970898, 21962599, 21962599
CPT1A:c.1364A>C (p.Lys455Thr)_PathogenicCPT1A:c.1493A>C (p.Tyr498Ser)_Likely PathogenicUnder 5 times17060594, 21962599
CPT1A:c.1393G>T (p.Gly465Trp)_Likely PathogenicCPT1A:c.1393G>T (p.Gly465Trp)_Likely PathogenicUnder 5 times15110323
CPT1A:c.1394G>A (p.Gly465Glu)_Likely PathogenicCPT1A:c.1394G>A (p.Gly465Glu)_Likely PathogenicUnder 5 times32781271
CPT1A:c.1433C>T (p.Ala478Val)_Likely PathogenicCPT1A:c.1367C>T (p.Ser456Leu)_Likely PathogenicUnder 5 times23700290
CPT1A:c.1436C>T (p.Pro479Leu)_ConflictCPT1A:c.1436C>T (p.Pro479Leu)_Conflict11-20 timesHypoglycemia (4), Liver abnormality (1), Loss of consciousness (1), Muscle cramping (1), Rhabdomyolysis (1), Seizure (1), Vomiting (1)11441142, 36109795
CPT1A:c.1456_1458+1del (Intronic)_PathogenicCPT1A:c.1456_1458+1del (Intronic)_PathogenicUnder 5 times30617651
CPT1A:c.1600del (p.Leu534*)_PathogenicCPT1A:c.1600del (p.Leu534*)_PathogenicUnder 5 times16146704
CPT1A:c.167C>T (p.Pro56Leu)_Likely PathogenicCPT1A:c.167C>T (p.Pro56Leu)_Likely PathogenicUnder 5 times23430868
CPT1A:c.1737C>A (p.Tyr579*)_PathogenicCPT1A:c.1737C>A (p.Tyr579*)_PathogenicUnder 5 times16146704
CPT1A:c.1783C>T (p.Arg595Trp)_Likely PathogenicCPT1A:c.1783C>T (p.Arg595Trp)_Likely PathogenicUnder 5 times23430932
CPT1A:c.1817G>A (p.Arg606His)_Uncertain SignificanceCPT1A:c.1817G>A (p.Arg606His)_Uncertain SignificanceUnder 5 times35360862
CPT1A:c.1907C>T (p.Ala636Val)_Uncertain SignificanceCPT1A:c.1907C>T (p.Ala636Val)_Uncertain SignificanceUnder 5 times30617651
CPT1A:c.1910C>A (p.Ser637Tyr)_Likely PathogenicCPT1A:c.1910C>A (p.Ser637Tyr)_Likely PathogenicUnder 5 times35360862
CPT1A:c.1910C>T (p.Ser637Phe)_Uncertain SignificanceCPT1A:c.1065G>A (p.Lys355Lys)_Uncertain SignificanceUnder 5 times36246604
CPT1A:c.1964G>A (p.Arg655His)_Uncertain SignificanceCPT1A:c.968-11G>A (Intronic)_Uncertain SignificanceUnder 5 times31234250
CPT1A:c.205G>A (p.Val69Met)_Uncertain SignificanceCPT1A:c.740C>T (p.Pro247Leu)_Likely PathogenicUnder 5 times35360862
CPT1A:c.2122A>C (p.Ser708Arg)_Likely PathogenicCPT1A:c.2122A>C (p.Ser708Arg)_Likely PathogenicUnder 5 times35822099
CPT1A:c.2125G>A (p.Gly709Arg)_Likely PathogenicCPT1A:c.1295C>T (p.Pro432Leu)_Likely PathogenicUnder 5 times35360862
CPT1A:c.2125G>A (p.Gly709Arg)_Likely PathogenicCPT1A:c.1948G>A (p.Gly650Ser)_Uncertain SignificanceUnder 5 times35281663
CPT1A:c.2126G>A (p.Gly709Glu)_Likely PathogenicCPT1A:c.948del (p.Ile317Serfs*12)_PathogenicUnder 5 times14517221, 9048718
CPT1A:c.2129G>A (p.Gly710Glu)_Likely PathogenicCPT1A:c.2129G>A (p.Gly710Glu)_Likely Pathogenic5-10 timesHypoglycemia (5), Encephalopathy (5), Liver abnormality (4), Seizure (4), Diarrh....11350183, 1403388, 11350182, 11350183
CPT1A:c.2142G>A (p.Pro714=)_Uncertain Significance
ACADVL:c.797_798del (p.Pro266Argfs*31)_Pathogenic*		Under 5 times
CPT1A:c.2156G>A (p.Gly719Asp)_Likely PathogenicCPT1A:c.1339C>T (p.Arg447*)_PathogenicUnder 5 times19345525
CPT1A:c.2198A>G (p.Asn733Ser)_Uncertain SignificanceCPT1A:c.2198A>G (p.Asn733Ser)_Uncertain SignificanceUnder 5 times34023347
CPT1A:c.2201T>C (p.Phe734Ser)_Uncertain SignificanceCPT1A:c.1318G>A (p.Ala440Thr)_Likely PathogenicUnder 5 times34233743
CPT1A:c.2215A>G (p.Lys739Glu)_Likely PathogenicCPT1A:c.619C>T (p.Gln207*)_PathogenicUnder 5 times33123633
CPT1A:c.2246G>A (p.Arg749His)_Likely PathogenicCPT1A:c.1131G>C (p.Glu377Asp)_Likely PathogenicUnder 5 times35360862
CPT1A:c.2246G>A (p.Arg749His)_Likely PathogenicCPT1A:c.2246G>A (p.Arg749His)_Likely PathogenicUnder 5 times34374989
CPT1A:c.272T>C (p.Leu91Pro)_Likely PathogenicCPT1A:c.497G>T (p.Ser166Ile)_Uncertain SignificanceUnder 5 times23700290
CPT1A:c.281+1G>A (Intronic)_PathogenicCPT1A:c.956G>T (p.Gly319Val)_Uncertain SignificanceUnder 5 times35360862
CPT1A:c.298C>T (p.Gln100*)_PathogenicCPT1A:c.298C>T (p.Gln100*)_PathogenicUnder 5 times12189492
CPT1A:c.367C>T (p.Arg123Cys)_Likely PathogenicCPT1A:c.367C>T (p.Arg123Cys)_Likely PathogenicUnder 5 times11441142
CPT1A:c.478C>T (p.Arg160*)_PathogenicCPT1A:c.478C>T (p.Arg160*)_PathogenicUnder 5 times15110323, 16146704
CPT1A:c.526G>T (p.Val176Phe)_Uncertain SignificanceCPT1A:c.1762_1766dup (p.Tyr589*)_PathogenicUnder 5 times23430491
CPT1A:c.577del (p.Met194*)_PathogenicCPT1A:c.740C>T (p.Pro247Leu)_Likely PathogenicUnder 5 times35360862
CPT1A:c.601C>T (p.Arg201Trp)_Uncertain Significance
CPT1A:c.1497G>A (p.Ala499=)_Uncertain Significance*		Under 5 times
CPT1A:c.627del (p.Phe209Leufs*13)_PathogenicCPT1A:c.1006G>A (p.Val336Met)_Uncertain SignificanceUnder 5 times28466427
CPT1A:c.733C>T (p.Arg245*)_PathogenicCPT1A:c.733C>T (p.Arg245*)_PathogenicUnder 5 times28468868
CPT1A:c.734G>A (p.Arg245Gln)_Likely PathogenicCPT1A:c.1336G>A (p.Gly446Ser)_Likely PathogenicUnder 5 times34869124
CPT1A:c.740C>T (p.Pro247Leu)_Likely PathogenicCPT1A:c.1328T>C (p.Leu443Pro)_Likely PathogenicUnder 5 times35360862
CPT1A:c.823G>A (p.Ala275Thr)_Conflict
CPT1A:c.1241C>T (p.Ala414Val)_Pathogenic		CPT1A:c.1493A>G (p.Tyr498Cys)_Likely PathogenicUnder 5 times12189492, 2768784
CPT1A:c.823G>A (p.Ala275Thr)_Conflict
CPT1A:c.912C>G (p.Cys304Trp)_Likely Pathogenic		CPT1A:c.823G>A (p.Ala275Thr)_Conflict
CPT1A:c.912C>G (p.Cys304Trp)_Likely Pathogenic		Under 5 times11441142
CPT1A:c.823G>A (p.Ala275Thr)_Conflict
CPT1A:c.941C>T (p.Thr314Ile)_Likely Pathogenic		CPT1A:c.823G>A (p.Ala275Thr)_Conflict
CPT1A:c.941C>T (p.Thr314Ile)_Likely Pathogenic		Under 5 times15669684
CPT1A:c.946C>G (p.Arg316Gly)_Uncertain Significance*CPT1A:c.946C>G (p.Arg316Gly)_Uncertain Significance*Under 5 times
CPT1A:c.947G>A (p.Arg316Gln)_Likely PathogenicCPT1A:c.837_838insT (p.Leu280Serfs*34)_PathogenicUnder 5 times23969540, 29519241
CPT1A:c.968-3C>G (Intronic)_Uncertain SignificanceCPT1A:c.968-3C>G (Intronic)_Uncertain SignificanceUnder 5 times31319225
CPT1A:c.979C>T (p.His327Tyr)_Uncertain SignificanceCPT1A:c.1336G>A (p.Gly446Ser)_Likely PathogenicUnder 5 times35360862
CPT2:c.1054T>C (p.Phe352Leu)_Likely PathogenicCPT2:c.1301T>C (p.Phe434Ser)_Uncertain SignificanceUnder 5 times35360862
CPT2:c.1145G>A (p.Arg382Lys)_Uncertain SignificanceCPT2:c.1145G>A (p.Arg382Lys)_Uncertain SignificanceUnder 5 times10607472
CPT2:c.1148T>A (p.Phe383Tyr)_PathogenicCPT2:c.1121G>A (p.Trp374*)_PathogenicUnder 5 times28801073
CPT2:c.1148T>A (p.Phe383Tyr)_PathogenicCPT2:c.1148T>A (p.Phe383Tyr)_PathogenicUnder 5 times17709715, 18363739, 28516040, 28516040, 28801073, 32489884, 9600456
CPT2:c.1148T>A (p.Phe383Tyr)_PathogenicCPT2:c.1345C>A (p.Gln449Lys)_Uncertain SignificanceUnder 5 times28801073, 30514913
CPT2:c.1148T>A (p.Phe383Tyr)_PathogenicCPT2:c.1579G>A (p.Glu527Lys)_Uncertain SignificanceUnder 5 times28801073
CPT2:c.1148T>A (p.Phe383Tyr)_PathogenicCPT2:c.1678C>T (p.Arg560Trp)_Likely PathogenicUnder 5 times30514913
CPT2:c.1148T>A (p.Phe383Tyr)_PathogenicCPT2:c.1749C>A (p.Asn583Lys)_Uncertain SignificanceUnder 5 times34539730
CPT2:c.1148T>A (p.Phe383Tyr)_PathogenicCPT2:c.1803del (p.Phe602Leufs*20)_PathogenicUnder 5 times23700290
CPT2:c.1148T>A (p.Phe383Tyr)_PathogenicCPT2:c.1813G>C (p.Val605Leu)_PathogenicUnder 5 times18363739
CPT2:c.1148T>A (p.Phe383Tyr)_PathogenicCPT2:c.1931T>C (p.Leu644Ser)_Likely PathogenicUnder 5 times21227726
CPT2:c.1148T>A (p.Phe383Tyr)_PathogenicCPT2:c.233+2T>A (Intronic)_PathogenicUnder 5 times28747690
CPT2:c.1148T>A (p.Phe383Tyr)_PathogenicCPT2:c.451C>T (p.Arg151Trp)_PathogenicUnder 5 times28801073, 32489884
CPT2:c.1148T>A (p.Phe383Tyr)_PathogenicCPT2:c.481C>T (p.Arg161Trp)_Likely PathogenicUnder 5 times22854105, 28801073, 30514913
CPT2:c.1148T>A (p.Phe383Tyr)_PathogenicCPT2:c.520G>A (p.Glu174Lys)_PathogenicUnder 5 times8682496, 28801073, 9600456
CPT2:c.1148T>A (p.Phe383Tyr)_PathogenicCPT2:c.746del (p.Gly249Glufs*16)_PathogenicUnder 5 times25919294
CPT2:c.1239_1240del (p.Lys414Thrfs*7)_PathogenicCPT2:c.1239_1240del (p.Lys414Thrfs*7)_PathogenicUnder 5 times31428121
CPT2:c.1239_1240del (p.Lys414Thrfs*7)_Pathogenic*CPT2:c.1342T>C (p.Phe448Leu)_Uncertain Significance*Under 5 times
CPT2:c.1239_1240del (p.Lys414Thrfs*7)_Pathogenic
CPT2:c.1342T>C (p.Phe448Leu)_Uncertain Significance		CPT2:c.1239_1240del (p.Lys414Thrfs*7)_Pathogenic
CPT2:c.1342T>C (p.Phe448Leu)_Uncertain Significance		Under 5 times12673791, 19335026
CPT2:c.1239_1240del (p.Lys414Thrfs*7)_Pathogenic
CPT2:c.? (p.Phe448Leu)_Likely Pathogenic		CPT2:c.1239_1240del (p.Lys414Thrfs*7)_Pathogenic
CPT2:c.? (p.Phe448Leu)_Likely Pathogenic		Under 5 times11477613
CPT2:c.1239_1240delGA (p.Lys414Thrfs*7)_PathogenicCPT2:c.110_111dup (p.Ser38Alafs*36)_PathogenicUnder 5 times12410208
CPT2:c.1239_1240delGA (p.Lys414Thrfs*7)_PathogenicCPT2:c.149C>A (p.Pro50His)_PathogenicUnder 5 times12410208
CPT2:c.136C>T (p.Gln46*)_PathogenicCPT2:c.371G>C (p.Arg124Pro)_PathogenicUnder 5 times31638495
CPT2:c.1436A>G (p.Tyr479Cys)_Likely PathogenicCPT2:c.748_749del (p.Asn250Phefs*5)_PathogenicUnder 5 times18925671
CPT2:c.1459G>A (p.Glu487Lys)_Likely PathogenicCPT2:c.691C>T (p.Arg231Trp)_Likely PathogenicUnder 5 times30455135, 30897730
CPT2:c.1489G>A (p.Gly497Ser)_PathogenicCPT2:c.? (p.His369Gln)_Likely PathogenicUnder 5 times23911907
CPT2:c.1493G>T (p.Arg498Leu)_Uncertain SignificanceCPT2:c.482G>A (p.Arg161Gln)_Likely PathogenicUnder 5 times31770251
CPT2:c.149C>A (p.Pro50His)_PathogenicCPT2:c.1171A>G (p.Ser391Gly)_Uncertain SignificanceUnder 5 times29478820
CPT2:c.149C>A (p.Pro50His)_PathogenicCPT2:c.1369A>T (p.Lys457*)_PathogenicUnder 5 times33123633, 34449523
CPT2:c.149C>A (p.Pro50His)_PathogenicCPT2:c.149C>A (p.Pro50His)_PathogenicUnder 5 times12707442, 33123633, 7711730
CPT2:c.149C>A (p.Pro50His)_PathogenicCPT2:c.1645+5G>A (Intronic)_Uncertain SignificanceUnder 5 times16996287
CPT2:c.149C>A (p.Pro50His)_PathogenicCPT2:c.1646G>A (p.Gly549Asp)_PathogenicUnder 5 times10398218, 16996287
CPT2:c.149C>A (p.Pro50His)_PathogenicCPT2:c.1727A>G (p.Asp576Gly)_Likely PathogenicUnder 5 times17936304
CPT2:c.149C>A (p.Pro50His)_PathogenicCPT2:c.1822G>C (p.Asp608His)_Likely PathogenicUnder 5 times20505667
CPT2:c.149C>A (p.Pro50His)_PathogenicCPT2:c.534_558delinsT (p.Leu178_Ile186delinsPhe)_PathogenicUnder 5 times10862092
CPT2:c.149C>A (p.Pro50His)_Pathogenic*CPT2:c.680C>T (p.Pro227Leu)_Pathogenic*Under 5 times
CPT2:c.1505T>C (p.Ile502Thr)_PathogenicCPT2:c.1505T>C (p.Ile502Thr)_PathogenicUnder 5 times10398215, 10862092, 30957255
CPT2:c.1505T>C (p.Ile502Thr)_PathogenicCPT2:c.1646-1G>T (Intronic)_PathogenicUnder 5 times30957255
CPT2:c.1507C>T (p.Arg503Cys)_PathogenicCPT2:c.1507C>T (p.Arg503Cys)_PathogenicUnder 5 times17372854
CPT2:c.1511C>T (p.Pro504Leu)_PathogenicCPT2:c.1511C>T (p.Pro504Leu)_PathogenicUnder 5 times18550408, 26537576
CPT2:c.152+5G>A (Intronic)_Pathogenic*CPT2:c.152+5G>A (Intronic)_Pathogenic*Under 5 times
CPT2:c.1547T>C (p.Phe516Ser)_PathogenicCPT2:c.122_130del (p.Pro41_Met43del)_Uncertain SignificanceUnder 5 times35281663
CPT2:c.161T>G (p.Ile54Ser)_Uncertain SignificanceCPT2:c.161T>G (p.Ile54Ser)_Uncertain SignificanceUnder 5 times35859960
CPT2:c.1711C>A (p.Pro571Thr)_PathogenicCPT2:c.1711C>A (p.Pro571Thr)_PathogenicUnder 5 times28771436
CPT2:c.1711C>A (p.Pro571Thr)_PathogenicCPT2:c.520G>A (p.Glu174Lys)_PathogenicUnder 5 times35360862
CPT2:c.1784del (p.Pro595Glnfs*3)_PathogenicCPT2:c.122C>T (p.Pro41Leu)_Uncertain SignificanceUnder 5 times22899091
CPT2:c.1784del (p.Pro595Glnfs*3)_PathogenicCPT2:c.164C>G (p.Pro55Arg)_Likely PathogenicUnder 5 times18550408
CPT2:c.1798G>A (p.Gly600Arg)_PathogenicCPT2:c.1798G>A (p.Gly600Arg)_PathogenicUnder 5 times33123633
CPT2:c.1798G>A (p.Gly600Arg)_Pathogenic
CPT2:c.38del (p.Gly13Alafs*60)_Pathogenic*		Under 5 times
CPT2:c.1806del (p.Phe602Leufs*20)_PathogenicCPT2:c.1806del (p.Phe602Leufs*20)_PathogenicUnder 5 times31599017
CPT2:c.1810C>T (p.Pro604Ser)_Likely PathogenicCPT2:c.110_111dup (p.Ser38Alafs*36)_PathogenicUnder 5 times16996287
CPT2:c.1813G>C (p.Val605Leu)_PathogenicCPT2:c.1678C>T (p.Arg560Trp)_Likely PathogenicUnder 5 times30514913
CPT2:c.1813G>C (p.Val605Leu)_PathogenicCPT2:c.969_970del (p.Phe323Leufs*6)_PathogenicUnder 5 times28649538
CPT2:c.1838G>A (p.Gly613Glu)_Uncertain SignificanceCPT2:c.1838G>A (p.Gly613Glu)_Uncertain SignificanceUnder 5 times28468868
CPT2:c.1883A>C (p.Tyr628Ser)_PathogenicCPT2:c.1883A>C (p.Tyr628Ser)_PathogenicUnder 5 times1999498, 8651281, 12673791, 20661589
CPT2:c.1891C>T (p.Arg631Cys)_PathogenicCPT2:c.1223_1224del (p.Ser408Tyrfs*13)_PathogenicUnder 5 times15754283, 18363739
CPT2:c.1891C>T (p.Arg631Cys)_PathogenicCPT2:c.1891C>T (p.Arg631Cys)_Pathogenic5-10 timesMyoglobinuria (6), Muscle weakness (3), Myalgia (3), Renal insufficiency/failure (2), Pain (2), Muscle spasm (2), Sweating (1), Severe bra....1528846, 17651973, 20810031, 21913903, 21913903, 36422281
CPT2:c.1891C>T (p.Arg631Cys)_PathogenicCPT2:c.313C>T (p.Gln105*)_PathogenicUnder 5 times28801073
CPT2:c.1891C>T (p.Arg631Cys)_PathogenicCPT2:c.370C>T (p.Arg124*)_PathogenicUnder 5 times16996287, 18645163
CPT2:c.1925_1937del (p.Lys642Thrfs*6)_PathogenicCPT2:c.1925_1937del (p.Lys642Thrfs*6)_PathogenicUnder 5 times18550408
CPT2:c.234-1G>A (Intronic)_PathogenicCPT2:c.534_558delinsT (p.Leu178_Ile186delinsPhe)_PathogenicUnder 5 times12560872
CPT2:c.28_29insAGCAAG (p.Trp10*)_PathogenicCPT2:c.28_29insAGCAAG (p.Trp10*)_PathogenicUnder 5 times30293990
CPT2:c.298del (p.Val100Leufs*30)_PathogenicCPT2:c.338C>T (p.Ser113Leu)_PathogenicUnder 5 times36109795
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic*ACADVL:c.1358G>A (p.Arg453Gln)_Pathogenic
ACADVL:c.1273G>A (p.Ala425Thr)_Pathogenic*		Under 5 times
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic*ACADVL:c.388_390del (p.Glu130del)_Pathogenic*Under 5 times
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic*ACADVL:c.848T>C (p.Val283Ala)_Pathogenic*Under 5 times
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic*CPT1A:c.884G>A (p.Arg295His)_Uncertain Significance*Under 5 times
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.110_111dup (p.Ser38Alafs*36)_Pathogenic5-10 timesRhabdomyolysis (2), Myoglobinuria (1), Pain (1)10862092, 12673791, 12673791, 12840153, 21378393, 24898617, 20505667, 30007356, 21378393
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic*CPT2:c.1115_1116delinsTT (p.His372Leu)_Uncertain Significance*Under 5 times
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.1117T>C (p.Ser373Pro)_Likely PathogenicUnder 5 times30149802
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.1130G>A (p.Gly377Asp)_Likely PathogenicUnder 5 times30007356, 20505667
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.1239G>A (p.Gln413=)_Uncertain SignificanceUnder 5 times20810031
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.1239_1240del (p.Lys414Thrfs*7)_Pathogenic11-20 timesMyoglobinuria (4), Myalgia (2), Rhabdomyolysis (2), Amenorrhoeic (1), Hypoglycemia (1), Inability to move legs for several hours (1), Muscle stiffness (1), Renal insufficiency/failure (1)12362414, 14970749, 16996287, 18645163, 21913903, 24602495, 28871440, 32928639, 30455135, 30897730
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.1239_1240del (p.Lys414Thrfs*7)_Pathogenic
CPT2:c.1342T>C (p.Phe448Leu)_Uncertain Significance		11-20 timesMyoglobinuria (4), Elevated circulating creatine kinase concentration (3), Exercise intolerance (3), Pain (3), Rhab....10090476, 10398218, 12707442, 28871440, 32928639
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.1273_1274del (p.Thr425Trpfs*6)_PathogenicUnder 5 times16996287
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic*CPT2:c.131_133delinsCCC (p.His44_Tyr45delinsProHis)_Uncertain Significance*Under 5 times
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.1333T>C (p.Cys445Arg)_Uncertain SignificanceUnder 5 times30881520
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.1342T>C (p.Phe448Leu)_Uncertain SignificanceUnder 5 times12673791
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.1348A>T (p.Arg450*)_PathogenicUnder 5 times20810031, 21913903
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.1352G>A (p.Gly451Glu)_Uncertain SignificanceUnder 5 times23475205
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.1369A>T (p.Lys457*)_PathogenicUnder 5 times16996287
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.1420G>C (p.Ala474Pro)_Uncertain SignificanceUnder 5 times29478820
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.1436A>T (p.Tyr479Phe)_Likely PathogenicUnder 5 times12707442, 24602495
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.1444_1447del (p.Thr482Trpfs*49)_PathogenicUnder 5 times16996287, 33123633
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.1459G>A (p.Glu487Lys)_Likely PathogenicUnder 5 times10868782
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.149C>A (p.Pro50His)_Pathogenic11-20 timesMyalgia (2), Myoglobinuria (1), Rhabdomyolysis (1)12673791, 12707442, 15622536, 16996287, 24602495, 29478820, 30455135, 30897730
CPT2:c.338C>T (p.Ser113Leu)_Pathogenic*CPT2:c.1511C>T (p.Pro504Leu)_Pathogenic*Under 5 times
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.1547T>C (p.Phe516Ser)_PathogenicUnder 5 times20810031, 21913903
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.1569_1570del (p.His523Glnfs*4)_PathogenicUnder 5 times16996287
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.1634_1636del (p.Glu545del)_Uncertain SignificanceUnder 5 times16996287
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.1646G>A (p.Gly549Asp)_PathogenicUnder 5 times16996287
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.1647_1650del (p.Gln550Alafs*32)_PathogenicUnder 5 times24602495
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.1657G>A (p.Asp553Asn)_PathogenicUnder 5 times17936304, 7711730
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.1660C>T (p.Arg554*)_PathogenicUnder 5 times17936304
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.1665C>G (p.His555Gln)_Uncertain SignificanceUnder 5 times29744303
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.1666_1667del (p.Leu556Valfs*16)_Pathogenic5-10 timesRhabdomyolysis (2), Diarrhea (1), Muscle weakness (1), Myalgia (1), Renal insufficiency/failure (1)28871440, 32928639, 29478820
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.1724T>C (p.Leu575Pro)_Likely PathogenicUnder 5 times20810031, 21913903
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.1769G>A (p.Ser590Asn)_Likely PathogenicUnder 5 times23475205
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.1784del (p.Pro595Glnfs*3)_PathogenicUnder 5 times18550408
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.1816_1817del (p.Val606Leufs*2)_PathogenicUnder 5 times16996287
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.1822G>C (p.Asp608His)_Likely PathogenicUnder 5 times12673791
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.182_203del (p.Ile61Argfs*5)_PathogenicUnder 5 times23475205, 30455135, 30897730
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.1883A>C (p.Tyr628Ser)_PathogenicUnder 5 times10734268, 12673791, 21378393, 15613406
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.1891C>T (p.Arg631Cys)_PathogenicUnder 5 times17936304, 21913903, 32463482
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.1892G>A (p.Arg631His)_Likely PathogenicUnder 5 times35256318
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.1932dup (p.Glu645Argfs*5)_Pathogenic5-10 timesMyoglobinuria (3), Myalgia (2), Elevated circulating creatine kinase concentration (1), Rhabdomyolysis (1), Seizure (1)17936304, 20810031, 21913903, 21913903
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.1933G>T (p.Glu645*)_PathogenicUnder 5 times30514913
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.200C>G (p.Ala67Gly)_Uncertain SignificanceUnder 5 times29478820
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.250T>C (p.Cys84Arg)_Uncertain SignificanceUnder 5 times16996287
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.256_257del (p.Ser86Phefs*2)_PathogenicUnder 5 times16996287
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.338C>T (p.Ser113Leu)_PathogenicMore than 30 timesMyoglobinuria (58), Myalgia (36), Rhabdomyolysis (33), Muscle weakness (18), Renal insufficiency/failure (12), Urine discoloration (9), Muscle spasm (8), Pain (8), Pulmonary/respiratory (7), Fever (7), Asthenia (6), Malaise/fatigue (4), Vomiting (4), Elevated circulating creatine kinase concentration (4), Exercise intolerance (3), Muscle stiffness (3), Respiratory tract infection (2), Myopathy (1), Nausea (1), Abnormality of metabolism/homeostasis (1), Pale (1), Polypneic (1), Recurrent (1), Myoglobinemia (1), Restricted movement (1), Rigidity (1), Seizure (1), Unable to walk (1), Recurrent myositis (1), Marked paucity of spontaneous movements (1), Loss of consciousness (1), Exhausted (1), Ataxia (1), Bilateral hearing loss (1), Cardiac-other (1), Cardiomyopathy (1), Consciousness disturbances (1), Decreased muscle tone (1), Exercise-induced rhabdomyolysis (1), Gastrointestinal-other (1), Liver abnormality (1), Hyperammonemia (1), Hypoglycemia (1), Hypotonia (1), Icteric appearance (1), Indirect hyperbilirubinemia (1), Ira (1), Lipid storage myopathy (1), Weakness of muscles of respiration (1)10090476, 10398215, 10398218, 10738923, 11585077, 11994355, 11999976, 12673791, 12707442, 14605500, 15613406, 16225172, 16671104, 16996287, 17936304, 18471680, 18645163, 20505667, 20505667, 30007356, 20810031, 21913903, 21913903, 24305961, 32463482, 24398345, 24563797, 24602495, 24786990, 25513977, 26913919, 27034144, 27067077, 27085974, 27629963, 27843283, 28468868, 28779239, 28871440, 32928639, 29478820, 29731937, 30262761, 30455135, 30897730, 31070454, 31191612, 31407473, 31517061, 32793418, 32978841, 33122977, 33201363, 33304817, 36422281, 36473042, 36478999, 8651281, 9309694, 9758712
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.340+1G>A (Intronic)_PathogenicUnder 5 times23475205, 30455135, 30897730
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.340+3A>T (Intronic)_Likely PathogenicUnder 5 times32928639, 28871440
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.340+5G>A (Intronic)_Likely PathogenicUnder 5 times12809643, 30455135, 30897730
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.359A>G (p.Tyr120Cys)_PathogenicUnder 5 times10862092
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.362T>A (p.Leu121Gln)_Likely PathogenicUnder 5 times21913903
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.36_43dup (p.Ala15Glyfs*61)_PathogenicUnder 5 times16996287
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.370C>T (p.Arg124*)_PathogenicUnder 5 times24305961, 32463482, 9562964
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.371G>A (p.Arg124Gln)_Likely PathogenicUnder 5 times24898617, 12673791, 21378393, 12840153
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.38del (p.Gly13Alafs*60)_PathogenicUnder 5 times16996287
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.437A>C (p.Asn146Thr)_Likely PathogenicUnder 5 times12673791, 21378393, 12840153
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.451C>T (p.Arg151Trp)_PathogenicUnder 5 times17936304
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.452G>A (p.Arg151Gln)_Pathogenic5-10 timesMyalgia (3), Myoglobinuria (3), Muscle spasm (2), Exercise intolerance (1), Pulmonary/respiratory (1), Renal insufficiency/failure (1), Rh....17936304, 18645163, 21913903, 27843283, 30455135, 30897730
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.481C>T (p.Arg161Trp)_Likely PathogenicUnder 5 times31235404, 33123633
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.517C>T (p.Pro173Ser)_Uncertain SignificanceUnder 5 times21913903
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.534_558delinsT (p.Leu178_Ile186delinsPhe)_Pathogenic5-10 timesMyoglobinuria (3), Fever (1), Muscle weakness (1), Myalgia (1), Renal insufficiency/failure (1), Urine discoloration (1)16168441, 17936304, 16996287, 21913903, 30957255, 9758712
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.563T>C (p.Phe188Ser)_Likely PathogenicUnder 5 times15613406
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.602G>A (p.Trp201*)_PathogenicUnder 5 times30007356, 20505667
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.638A>G (p.Asp213Gly)_PathogenicUnder 5 times15622536
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.641T>C (p.Met214Thr)_PathogenicUnder 5 times12707442, 28801073, 30514913
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.691C>T (p.Arg231Trp)_Likely PathogenicUnder 5 times16996287, 24602495
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.886C>T (p.Arg296*)_PathogenicUnder 5 times14605500
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.887G>A (p.Arg296Gln)_PathogenicUnder 5 times14605500
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.887G>T (p.Arg296Leu)_Likely PathogenicUnder 5 times21913903
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.977G>A (p.Cys326Tyr)_Uncertain SignificanceUnder 5 times21913903
CPT2:c.338C>T (p.Ser113Leu)_PathogenicCPT2:c.98del (p.Gln33Argfs*40)_PathogenicUnder 5 times21913903
CPT2:c.341-2621_1121del (Intronic)_Uncertain SignificanceCPT2:c.338C>T (p.Ser113Leu)_PathogenicUnder 5 times36109795
CPT2:c.359A>G (p.Tyr120Cys)_PathogenicCPT2:c.359A>G (p.Tyr120Cys)_PathogenicUnder 5 times18550408
CPT2:c.359A>G (p.Tyr120Cys)_Pathogenic
CPT2:c.878G>T (p.Ser293Ile)_Uncertain Significance*		Under 5 times
CPT2:c.370C>T (p.Arg124*)_PathogenicCPT2:c.370C>T (p.Arg124*)_PathogenicUnder 5 times22652984
CPT2:c.451C>T (p.Arg151Trp)_PathogenicCPT2:c.451C>T (p.Arg151Trp)_PathogenicUnder 5 times28801073, 28529889, 30514913
CPT2:c.452G>A (p.Arg151Gln)_PathogenicCPT2:c.452G>A (p.Arg151Gln)_PathogenicUnder 5 times12673791, 14605500
CPT2:c.452G>A (p.Arg151Gln)_PathogenicCPT2:c.680C>T (p.Pro227Leu)_PathogenicUnder 5 times9758712
CPT2:c.481C>T (p.Arg161Trp)_Likely PathogenicCPT2:c.481C>T (p.Arg161Trp)_Likely PathogenicUnder 5 times12673791
CPT2:c.520G>A (p.Glu174Lys)_PathogenicCPT2:c.151A>G (p.Arg51Gly)_Uncertain SignificanceUnder 5 times29552494, 22841441
CPT2:c.520G>A (p.Glu174Lys)_PathogenicCPT2:c.1737del (p.Tyr579*)_PathogenicUnder 5 times18577113
CPT2:c.520G>A (p.Glu174Lys)_PathogenicCPT2:c.520G>A (p.Glu174Lys)_PathogenicUnder 5 times25919294, 2752669, 9600456
CPT2:c.520G>A (p.Glu174Lys)_PathogenicCPT2:c.656G>A (p.Arg219Gln)_Uncertain SignificanceUnder 5 times30514913
CPT2:c.534_558delinsT (p.Leu178_Ile186delinsPhe)_PathogenicCPT2:c.359A>G (p.Tyr120Cys)_PathogenicUnder 5 times16996287
CPT2:c.534_558delinsT (p.Leu178_Ile186delinsPhe)_PathogenicCPT2:c.534_558delinsT (p.Leu178_Ile186delinsPhe)_PathogenicUnder 5 times21641254
CPT2:c.577C>T (p.Arg193Cys)_Likely PathogenicCPT2:c.577C>T (p.Arg193Cys)_Likely PathogenicUnder 5 times26436962
CPT2:c.587C>T (p.Pro196Leu)_Uncertain SignificanceCPT2:c.587C>T (p.Pro196Leu)_Uncertain SignificanceUnder 5 times35281663
CPT2:c.628T>G (p.Tyr210Asp)_Likely PathogenicCPT2:c.628T>G (p.Tyr210Asp)_Likely PathogenicUnder 5 times14605500
CPT2:c.62C>A (p.Pro21His)_Likely PathogenicCPT2:c.99G>C (p.Gln33His)_Likely PathogenicUnder 5 times22494076
CPT2:c.631C>T (p.Pro211Ser)_Likely PathogenicCPT2:c.631C>T (p.Pro211Ser)_Likely PathogenicUnder 5 times35342266
CPT2:c.638A>G (p.Asp213Gly)_PathogenicCPT2:c.1073T>G (p.Leu358Arg)_Likely PathogenicUnder 5 times34626609
CPT2:c.680C>T (p.Pro227Leu)_PathogenicCPT2:c.680C>T (p.Pro227Leu)_Pathogenic5-10 timesArrhythmia (3), Cardiac-other (3), Abnormal renal morphology (3), Hyperammonemia (2), Dandy-walker malformation (2)....18550408, 25827434, 25827434, 25827434, None (Abstract only)
CPT2:c.739A>T (p.Arg247Trp)_Likely PathogenicCPT2:c.739A>T (p.Arg247Trp)_Likely PathogenicUnder 5 times17936304
CPT2:c.746del (p.Gly249Glufs*16)_PathogenicCPT2:c.647A>G (p.Gln216Arg)_Likely PathogenicUnder 5 times21921422
CPT2:c.886C>T (p.Arg296*)_PathogenicCPT2:c.1148T>A (p.Phe383Tyr)_PathogenicUnder 5 times34394177
CPT2:c.887G>A (p.Arg296Gln)_PathogenicCPT2:c.1891C>T (p.Arg631Cys)_PathogenicUnder 5 times35028265
CPT2:c.896_906dup (p.Arg303Glyfs*8)_PathogenicCPT2:c.1711C>A (p.Pro571Thr)_PathogenicUnder 5 times35360862
CPT2:c.983A>G (p.Asp328Gly)_PathogenicCPT2:c.983A>G (p.Asp328Gly)_PathogenicUnder 5 times12673791, 12840153, 12673791, 12840153, 21378393, 14634971
CPT2:c.989dup (p.Ile332Hisfs*2)_PathogenicCPT2:c.1711C>A (p.Pro571Thr)_PathogenicUnder 5 times35360862
CPT2:c.98del (p.Gln33Argfs*40)_PathogenicCPT2:c.341-2A>G (Intronic)_PathogenicUnder 5 times30957255
CPT2:c.? (p.Gly600Arg)_PathogenicCPT2:c.? (p.Gly600Arg)_PathogenicUnder 5 times14605500
CPT2:c.? (p.Tyr290*)_PathogenicCPT2:c.? (p.Tyr290*)_PathogenicUnder 5 times14605500
HADHA:c.1025T>C (p.Leu342Pro)_Likely PathogenicHADHA:c.1493A>G (p.His498Arg)_Likely PathogenicUnder 5 times27117294
HADHA:c.1086-3_1092del (Intronic)_Pathogenic
CPT1A:c.1199G>C (p.Gly400Ala)_Uncertain Significance*		Under 5 times
HADHA:c.1195C>T (p.Arg399*)_PathogenicHADHA:c.1528G>C (p.Glu510Gln)_PathogenicUnder 5 times33638202
HADHA:c.1336_1393del (p.Glu446*)_PathogenicHADHA:c.556C>G (p.Gln186Glu)_Likely PathogenicUnder 5 times24305961
HADHA:c.1393_1479del (p.Pro467_Ile495del)_Likely PathogenicHADHA:c.1393_1479del (p.Pro467_Ile495del)_Likely PathogenicUnder 5 times26109258
HADHA:c.1480-139C>G (Intronic)_Uncertain SignificanceHADHA:c.1480-139C>G (Intronic)_Uncertain SignificanceUnder 5 times30747351
HADHA:c.1493A>G (p.His498Arg)_Likely PathogenicHADHA:c.1528G>C (p.Glu510Gln)_PathogenicUnder 5 times33638202
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic*ACADVL:c.1818G>A (p.Trp606*)_Pathogenic*Under 5 times
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.1025T>C (p.Leu342Pro)_Likely PathogenicUnder 5 times9266371
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.1058_1059delinsT (p.Lys353Ilefs*19)_PathogenicUnder 5 times21549624, 32253025
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.1072C>A (p.Gln358Lys)_Benign
HADHA:c.982G>A (p.Gly328Arg)_Likely Pathogenic		Under 5 times26109258, 35383965
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.1086-3_1092del (Intronic)_PathogenicUnder 5 times11241049
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.1108G>A (p.Gly370Arg)_Uncertain SignificanceUnder 5 times35782617
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.1132C>T (p.Gln378*)_Pathogenic5-10 timesLiver abnormality (1), Retinal/choroid disorder (1), Rhabdomyolysis (1)22030098, 24064340, 30912279, 7846063, 10352164, 11241049, 16040264, 16297647, 8809345
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.1195C>T (p.Arg399*)_PathogenicUnder 5 times21549624
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.1220+1G>C (Intronic)_PathogenicUnder 5 times21103935
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.1220+2T>C (Intronic)_PathogenicUnder 5 times12237653, 12413376
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.1381del (p.Glu461Lysfs*2)_PathogenicUnder 5 times21549624
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.1432G>C (p.Ala478Pro)_Uncertain SignificanceUnder 5 times21549624
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.1432del (p.Ala478Leufs*17)_PathogenicUnder 5 times35383965
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.1433C>T (p.Ala478Val)_Uncertain SignificanceUnder 5 times21549624
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.1528G>C (p.Glu510Gln)_PathogenicMore than 30 timesLiver abnormality (54), Hypoglycemia (51), Retinal/choroid disorder (43), Cardiomyopathy (34), Vomiting (26), Rhabdomyolysis (25), Hypotonia (24), Peripheral neuropathy (21), Cardiac-other (19), Abnormality of metabolism/homeostasis (18), Cardiac arrest (15), Decreased body weight (15), Pulmonary/respiratory (14), Seizure (12), Absent achilles reflex (11), Lethargy (9), Myalgia (8), Developmental delay (7), Diarrhea (7), Jaundice (6), Respiratory tract infection (6), Arrhythmia (6), Encephalopathy (5), Muscle weakness (5), Poor feeding (3), Gastrointestinal-other (3), Myopathy (3), Fever (3), Malaise/fatigue (2), Hypotension (2), Poor vision (2), Renal insufficiency/failure (2), Somnolence (2), Ataxia (2), Asphyxia (2), Hyperammonemia (2), Coma (2), Hypopallesthesia (1), Pulmonary hemorrhage (1), Unconsciousness (1), Tics (1), Thrombocytopenia (1), Desaturation (1), Cataract (1), Romberg (1), Axial hypotonia (1), Reye syndrome-like episodes (1), Acute decompensation (1), Drowsy (1), Exercise intolerance (1), Circulatory collapse (1), Feeding difficulties (1), Feeding problems (1), Capillary leakage syndrome (1), Paleness (1), Pain (1), Other (1), Fetal distress during delivery (1), Gait (1), Microcephaly (1), Depression (1), Loss of consciousness (1), Anaemia (1), Hyperbilirubinemia (1), Dehydration (1)10352164, 10384386, 10518281, 10789927, 11045847, 11241049, 11427446, 11427448, 11719334, 11773547, 11855930, 16040264, 12208138, 12237653, 12237653, 12413376, 12660866, 12745572, 12872842, 14605499, 15902556, 16040264, 16040264, 27491397, 16183823, 16297647, 16876451, 16996288, 17160563, 17431731, 18162058, 26545880, 18408953, 19399638, 20363656, 20583174, 20589231, 20659813, 21103935, 21549624, 22030098, 22473002, 23430524, 23430524, 25141826, 23430857, 23798014, 24064340, 30912279, 24305961, 26109258, 26653362, 26676313, 27117294, 27334895, 27491397, 27590926, 27769081, 28392417, 28871440, 28871440, 32928639, 29268767, 30029694, 30990523, 31025818, 32253025, 33123633, 33638202, 34578803, 35383965, 35677112, 35822088, 36109795, 7811722, 7846063, 7846063, 8294091, 8736409, 9593380, 8809345, 8938697, 9003853, 9403664, 9539533, 9593380
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.1533dup (p.Ile512Tyrfs*29)_PathogenicUnder 5 times21549624
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.157C>T (p.Arg53*)_PathogenicUnder 5 times20659813
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.1620+2_1620+6del (Intronic)_PathogenicUnder 5 times10352164, 16040264, 32999401
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.162del (p.Asn55Thrfs*7)_PathogenicUnder 5 times12237653
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.1646G>C (p.Arg549Thr)_Uncertain SignificanceUnder 5 times34578803
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.1663_1665del (p.Met555del)_Uncertain SignificanceUnder 5 times21549624
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.1664T>G (p.Met555Arg)_Uncertain SignificanceUnder 5 times34732400
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.1678C>T (p.Arg560*)_Pathogenic5-10 timesAbnormality of metabolism/homeostasis (1), And decreased oral intake (1), Cardiac-other (1), Coma (1), Fetal distress (1), Hyperpigmented macula (1), Hypoglycemia (1), Hypotonia (1), Irritability (1), Lethargy (1), Liver abnormality (1), Myalgia (1), Myoglobinuria (1), Retinal/choroid disorder (1),....11427448, 14630990, 20589231, 22030098, 24064340, 30912279, 32463482, 8865274, 10352164, 16040264, 16996288, 16876451, 27491397
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.1690-2A>G (Intronic)_PathogenicUnder 5 times23430857
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.1712T>C (p.Leu571Pro)_PathogenicUnder 5 times24305961, 26109258, 32463482
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.180+3A>G (Intronic)_Likely Pathogenic5-10 timesMyalgia (2), Rhabdomyolysis (2), Diminished ankle reflexes (1), Myoglobinuria (1), Urine discoloration (1)22030098, 23868323, 29268767, 26109258, 27491397, 30682426, 30912279
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.180_180+5delinsAT (Intronic)_PathogenicUnder 5 times33638202
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic*HADHA:c.1893del (p.Lys631Asnfs*13)_Pathogenic*Under 5 times
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.1915_1918del (p.Tyr639Argfs*4)_PathogenicUnder 5 times35281663
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.1967del (p.Leu656*)_PathogenicUnder 5 times10352164, 18045290, 21549624
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.1981_1999del (p.Leu661Serfs*12)_PathogenicUnder 5 times21549624
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.2000+1G>A (Intronic)_PathogenicUnder 5 times14630990
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.2027G>A (p.Arg676His)_Likely PathogenicUnder 5 times11427448, 15902556, 26109258
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.2059del (p.Met687Cysfs*43)_PathogenicUnder 5 times27652820
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.2099del (p.Gly700Glufs*30)_PathogenicUnder 5 times32978841, 35383965
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.2107G>A (p.Gly703Arg)_PathogenicUnder 5 times21103935
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.2132dup (p.Pro712Alafs*26)_PathogenicUnder 5 times9266371
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.2146+6_2146+18del (Intronic)_Uncertain SignificanceUnder 5 times21549624
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.2198T>C (p.Leu733Pro)_Uncertain SignificanceUnder 5 times8739956
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.2225_2228dup (p.Phe744Thrfs*10)_PathogenicUnder 5 times12237653, 21549624
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic*HADHA:c.240G>A (p.Trp80*)_Pathogenic*Under 5 times
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.266T>G (p.Val89Gly)_Uncertain SignificanceUnder 5 times21103935
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.274_278del (p.Ser92Lysfs*10)_Pathogenic11-20 timesHypoglycemia (4), Liver abnormality (3), Rhabdomyolysis (3), Cardiac-other (2), Peripheral neuropathy (1)10352164, 11241049, 16040264, 10352164, 16040264, 12237653, 12413376, 16876451, 16996288, 20589231, 21549624, 24064340, 30912279, 27491397, 33638202, 34578803
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.278C>G (p.Ser93*)_PathogenicUnder 5 times34578803
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.315-1G>A (Intronic)_PathogenicUnder 5 times19852779
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.315-2A>T (Intronic)_PathogenicUnder 5 times10352164
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.479_482delinsAATA (p.Ile160_Gln763delinsLys)_Likely PathogenicUnder 5 times10352164, 16876451, 16996288, 20589231, 27491397, 28871440, 32928639
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.509G>A (p.Gly170Asp)_Likely PathogenicUnder 5 times11427448
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.58del (p.Arg20Alafs*17)_PathogenicUnder 5 times34578803
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.703C>T (p.Arg235Trp)_PathogenicUnder 5 times28871440, 32928639, 34578803
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.761_764del (p.Lys254Argfs*14)_PathogenicUnder 5 times21103935
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.871C>T (p.Arg291*)_PathogenicUnder 5 times10352164, 23798014
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.914T>A (p.Ile305Asn)_PathogenicUnder 5 times32253025, 34578803
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.918+1G>A (Intronic)_PathogenicUnder 5 times21549624
HADHA:c.1528G>C (p.Glu510Gln)_PathogenicHADHA:c.918+6T>G (Intronic)_Uncertain SignificanceUnder 5 times21549624
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic*HADHA:c.975G>A (p.Gln325=)_Uncertain Significance*Under 5 times
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic*SLC25A20:c.160_163delinsTGGG (p.Gly54_Thr55delinsTrpAla)_Pathogenic
SLC25A20:c.536A>G (p.Asp179Gly)_Uncertain Significance*		Under 5 times
HADHA:c.1528G>C (p.Glu510Gln)_Pathogenic
ACADVL:c.1269+1G>A (Intronic)_Pathogenic		Under 5 times32793418
HADHA:c.1678C>T (p.Arg560*)_PathogenicHADHA:c.1678C>T (p.Arg560*)_PathogenicUnder 5 times21549624, 33123633
HADHA:c.1689+2T>G (Intronic)_PathogenicHADHA:c.1392+1G>A (Intronic)_PathogenicUnder 5 times27014569, 28515471
HADHA:c.1689+2T>G (Intronic)_PathogenicHADHA:c.1689+2T>G (Intronic)_PathogenicUnder 5 times17143551, 29519241
HADHA:c.1689+2T>G (Intronic)_PathogenicHADHA:c.361C>T (p.Gln121*)_PathogenicUnder 5 times28515471
HADHA:c.1712T>C (p.Leu571Pro)_PathogenicHADHA:c.446G>T (p.Gly149Val)_Uncertain SignificanceUnder 5 times29124685
HADHA:c.1793_1794del (p.His598Argfs*33)_PathogenicHADHA:c.1793_1794del (p.His598Argfs*33)_PathogenicUnder 5 times11855930, 12442268, 29519241
HADHA:c.1793_1794del (p.His598Argfs*33)_Pathogenic
HADHB:c.845G>A (p.Arg282His)_Uncertain Significance*		Under 5 times
HADHA:c.180+1G>A (Intronic)_PathogenicHADHA:c.180+3A>G (Intronic)_Likely PathogenicUnder 5 times10352164
HADHA:c.180+3A>G (Intronic)_Likely PathogenicHADHA:c.180+1G>A (Intronic)_PathogenicUnder 5 times8651282, 7738175
HADHA:c.180+3A>G (Intronic)_Likely PathogenicHADHA:c.180+3A>G (Intronic)_Likely PathogenicUnder 5 times33123633
HADHA:c.180_180+5delinsAT (Intronic)_PathogenicHADHA:c.180+3A>G (Intronic)_Likely PathogenicUnder 5 times10400133
HADHA:c.1828C>G (p.Arg610Gly)_Likely PathogenicHADHA:c.1528G>C (p.Glu510Gln)_PathogenicUnder 5 times21103935
HADHA:c.1828C>G (p.Arg610Gly)_Likely PathogenicHADHA:c.2281T>G (p.Phe761Val)_Likely Pathogenic5-10 timesAbsent deep tendon reflexes (3), Peripheral neuropathy (3), Ataxic gait (2), Hypotonia (1), Stumble (1)33638202, 35433174
HADHA:c.1925G>T (p.Gly642Val)_Uncertain Significance
ACADVL:c.205-2A>G (Intronic)_Likely Pathogenic
ACADVL:c.257A>G (p.Gln86Arg)_Uncertain Significance*		Under 5 times
HADHA:c.1970C>T (p.Ala657Val)_Uncertain Significance
ACADVL:c.757G>A (p.Gly253Arg)_Uncertain Significance*		Under 5 times
HADHA:c.1990_1991del (p.Lys664Valfs*2)_PathogenicHADHA:c.1990_1991del (p.Lys664Valfs*2)_PathogenicUnder 5 times21549624
HADHA:c.2026C>T (p.Arg676Cys)_Likely PathogenicHADHA:c.2027G>A (p.Arg676His)_Likely PathogenicUnder 5 times10352164
HADHA:c.2027G>A (p.Arg676His)_Likely PathogenicHADHA:c.1967del (p.Leu656*)_PathogenicUnder 5 times21549624
HADHA:c.2027G>T (p.Arg676Leu)_Uncertain SignificanceHADHA:c.2027G>T (p.Arg676Leu)_Uncertain SignificanceUnder 5 times24305961, 28283530
HADHA:c.2102A>G (p.Asp701Gly)_Likely PathogenicHADHA:c.1528G>C (p.Glu510Gln)_PathogenicUnder 5 times14630990, 22030098, 24064340, 26907176, 30912279
HADHA:c.2107G>A (p.Gly703Arg)_PathogenicHADHA:c.1336G>A (p.Glu446Lys)_Likely PathogenicUnder 5 times26109258
HADHA:c.2114T>A (p.Val705Asp)_Likely PathogenicHADHA:c.2114T>A (p.Val705Asp)_Likely PathogenicUnder 5 times26109258
HADHA:c.2200A>T (p.Lys734*)_Pathogenic
ACADVL:c.1496G>T (p.Gly499Val)_Uncertain Significance
ACADVL:c.1052C>A (p.Thr351Asn)_Uncertain Significance*		Under 5 times
HADHA:c.274_278del (p.Ser92Lysfs*10)_PathogenicHADHA:c.1528G>C (p.Glu510Gln)_PathogenicUnder 5 times12809642, 33204595
HADHA:c.274_278del (p.Ser92Lysfs*10)_PathogenicHADHA:c.2063G>A (p.Cys688Tyr)_Uncertain SignificanceUnder 5 times21549624
HADHA:c.274_278del (p.Ser92Lysfs*10)_PathogenicHADHA:c.274_278del (p.Ser92Lysfs*10)_PathogenicUnder 5 times21549624, 28392417
HADHA:c.389T>C (p.Leu130Pro)_Likely PathogenicHADHA:c.389T>C (p.Leu130Pro)_Likely PathogenicUnder 5 times12442268
HADHA:c.442G>A (p.Gly148Arg)_Uncertain SignificanceHADHA:c.442G>A (p.Gly148Arg)_Uncertain SignificanceUnder 5 times21549624
HADHA:c.453+1G>A (Intronic)_PathogenicHADHA:c.453+1G>A (Intronic)_PathogenicUnder 5 times35281663
HADHA:c.539C>T (p.Pro180Leu)_Uncertain SignificanceHADHA:c.539C>T (p.Pro180Leu)_Uncertain SignificanceUnder 5 times32657593
HADHA:c.556C>G (p.Gln186Glu)_Likely PathogenicHADHA:c.1392+1G>A (Intronic)_PathogenicUnder 5 times35758105
HADHA:c.574-2A>G (Intronic)_PathogenicHADHA:c.574-2A>G (Intronic)_PathogenicUnder 5 times10352164, 11241049, 11427448, 14630990
HADHA:c.602T>C (p.Met201Thr)_Uncertain SignificanceHADHA:c.602T>C (p.Met201Thr)_Uncertain SignificanceUnder 5 times33638202
HADHA:c.676+2T>C (Intronic)_PathogenicHADHA:c.676+2T>C (Intronic)_PathogenicUnder 5 times21549624
HADHA:c.703C>T (p.Arg235Trp)_PathogenicHADHA:c.2107G>A (p.Gly703Arg)_PathogenicUnder 5 times34878152
HADHA:c.703C>T (p.Arg235Trp)_PathogenicHADHA:c.703C>T (p.Arg235Trp)_PathogenicUnder 5 times19433283, 21549624, 34578803
HADHA:c.703C>T (p.Arg235Trp)_PathogenicHADHA:c.955G>A (p.Gly319Ser)_Likely PathogenicUnder 5 times33638202
HADHA:c.731C>T (p.Ala244Val)_Uncertain SignificanceHADHA:c.919-2A>G (Intronic)_PathogenicUnder 5 times15902556
HADHA:c.799+1G>A (Intronic)_Likely Pathogenic*HADHA:c.799+1G>A (Intronic)_Likely Pathogenic*Under 5 times
HADHA:c.845T>A (p.Val282Asp)_Likely PathogenicHADHA:c.845T>A (p.Val282Asp)_Likely PathogenicUnder 5 times10352164, 7748366, 9739053
HADHA:c.871C>T (p.Arg291*)_PathogenicHADHA:c.871C>T (p.Arg291*)_PathogenicUnder 5 times18485779
HADHA:c.914T>A (p.Ile305Asn)_PathogenicHADHA:c.138dup (p.Gly47Argfs*9)_PathogenicUnder 5 times21549624
HADHA:c.914T>A (p.Ile305Asn)_PathogenicHADHA:c.1528G>C (p.Glu510Gln)_Pathogenic5-10 timesDevelopmental delay (1)21549624, 26109258, 29268767
HADHA:c.914T>A (p.Ile305Asn)_PathogenicHADHA:c.871C>T (p.Arg291*)_PathogenicUnder 5 times10352164, 2019931, 9739053
HADHA:c.918+1G>A (Intronic)_PathogenicHADHA:c.918+1G>A (Intronic)_PathogenicUnder 5 times26109258
HADHA:c.955G>A (p.Gly319Ser)_Likely PathogenicHADHA:c.453+1G>T (Intronic)_PathogenicUnder 5 times30682426
HADHA:c.975+6C>T (Intronic)_Uncertain Significance
HADHB:c.1000A>C (p.Lys334Gln)_Uncertain Significance*		Under 5 times
HADHB:c.-8-2780_109+2924del (Intronic)_PathogenicHADHB:c.788A>G (p.Asp263Gly)_PathogenicUnder 5 times21549624
HADHB:c.1091A>G (p.Glu364Gly)_Uncertain SignificanceHADHB:c.1348G>T (p.Gly450Cys)_Uncertain SignificanceUnder 5 times34578803
HADHB:c.1136A>G (p.His379Arg)_PathogenicHADHB:c.1136A>G (p.His379Arg)_PathogenicUnder 5 times25420603
HADHB:c.1136A>G (p.His379Arg)_PathogenicHADHB:c.1211dup (p.Arg405*)_PathogenicUnder 5 times29519241
HADHB:c.1137del (p.His379Glnfs*76)_PathogenicHADHB:c.1191G>A (p.Trp397*)_PathogenicUnder 5 times21549624
HADHB:c.1150-?_1389+?del (Deletion (Exons 14-15))_Likely Pathogenic
HADHB:c.443-10T>C (Intronic)_Uncertain Significance*		Under 5 times
HADHB:c.1154A>C (p.Gln385Pro)_Uncertain SignificanceHADHB:c.1154A>C (p.Gln385Pro)_Uncertain SignificanceUnder 5 times28112527
HADHB:c.1165A>G (p.Asn389Asp)_PathogenicHADHB:c.1165A>G (p.Asn389Asp)_PathogenicUnder 5 times21549624, 28392417
HADHB:c.1165A>G (p.Asn389Asp)_PathogenicHADHB:c.919A>G (p.Asn307Asp)_Likely PathogenicUnder 5 times17143551
HADHB:c.1175C>T (p.Ala392Val)_Likely PathogenicHADHB:c.1175C>T (p.Ala392Val)_Likely PathogenicUnder 5 times24664533
HADHB:c.1175C>T (p.Ala392Val)_Likely PathogenicHADHB:c.1364T>G (p.Val455Gly)_PathogenicUnder 5 times32509533, 28515471
HADHB:c.1175_1177del (p.Ala392_Met393delinsVal)_Uncertain SignificanceHADHB:c.1175_1177del (p.Ala392_Met393delinsVal)_Uncertain SignificanceUnder 5 times21549624
HADHB:c.1192T>C (p.Phe398Leu)_Uncertain SignificanceHADHB:c.1192T>C (p.Phe398Leu)_Uncertain SignificanceUnder 5 times28132977
HADHB:c.1198G>T (p.Glu400*)_PathogenicHADHB:c.442+663A>G (Intronic)_Uncertain SignificanceUnder 5 times30029694
HADHB:c.1228_1240del (p.Gly410Trpfs*41)_PathogenicHADHB:c.181C>T (p.Arg61Cys)_Likely PathogenicUnder 5 times31527676
HADHB:c.1279G>A (p.Gly427Arg)_Uncertain Significance*HADHB:c.1279G>A (p.Gly427Arg)_Uncertain Significance*Under 5 times
HADHB:c.1280G>A (p.Gly427Glu)_Uncertain SignificanceHADHB:c.206C>T (p.Thr69Ile)_Uncertain SignificanceUnder 5 times30193751
HADHB:c.1289T>C (p.Phe430Ser)_Pathogenic
HADHB:c.210-?_354+?del (Deletion (Exons 5-6))_Pathogenic*		Under 5 times
HADHB:c.1331G>A (p.Arg444Lys)_Likely PathogenicHADHB:c.1331G>A (p.Arg444Lys)_Likely PathogenicUnder 5 times26109258, 9259266, 9305349, 11239956, 19699128, 28515471
HADHB:c.1331G>A (p.Arg444Lys)_Likely PathogenicHADHB:c.520C>T (p.Arg174Cys)_PathogenicUnder 5 times22000755, 28515471
HADHB:c.1331G>A (p.Arg444Lys)_Likely PathogenicHADHB:c.776_777insT (p.Leu260Thrfs*4)_PathogenicUnder 5 times8645256, 9259266, 28515471, 19699128
HADHB:c.1364T>G (p.Val455Gly)_PathogenicHADHB:c.1364T>G (p.Val455Gly)_PathogenicUnder 5 times19699128
HADHB:c.1390-515_1390-499del (Intronic)_Likely PathogenicHADHB:c.1390-515_1390-499del (Intronic)_Likely PathogenicUnder 5 times28283530
HADHB:c.170_172del (p.Val57del)_Uncertain SignificanceHADHB:c.170_172del (p.Val57del)_Uncertain SignificanceUnder 5 times21549624
HADHB:c.176G>A (p.Gly59Asp)_Uncertain SignificanceHADHB:c.740G>A (p.Arg247His)_Likely PathogenicUnder 5 times12754706
HADHB:c.181C>T (p.Arg61Cys)_Likely PathogenicHADHB:c.181C>T (p.Arg61Cys)_Likely PathogenicUnder 5 times12754706
HADHB:c.181C>T (p.Arg61Cys)_Likely PathogenicHADHB:c.254+5G>A (Intronic)_Uncertain SignificanceUnder 5 times35383965
HADHB:c.181C>T (p.Arg61Cys)_Likely PathogenicHADHB:c.349A>G (p.Arg117Gly)_PathogenicUnder 5 times12754706
HADHB:c.182G>A (p.Arg61His)_Likely PathogenicHADHB:c.1289T>C (p.Phe430Ser)_PathogenicUnder 5 times16423905, 35383965, 35782614
HADHB:c.182G>A (p.Arg61His)_Likely PathogenicHADHB:c.740G>A (p.Arg247His)_Likely PathogenicUnder 5 times12754706, 15617873, 8651282
HADHB:c.184A>G (p.Thr62Ala)_Uncertain SignificanceHADHB:c.254+1G>A (Intronic)_PathogenicUnder 5 times24379101
HADHB:c.18C>A (p.Tyr6*)_PathogenicHADHB:c.631-1G>A (Intronic)_PathogenicUnder 5 times35383965
HADHB:c.209+1G>C (Intronic)_PathogenicHADHB:c.209+1G>C (Intronic)_PathogenicUnder 5 times21549624, 35383965
HADHB:c.209+1G>C (Intronic)_PathogenicHADHB:c.255-1G>A (Intronic)_PathogenicUnder 5 times33123633
HADHB:c.209+1G>C (Intronic)_PathogenicHADHB:c.397A>G (p.Thr133Ala)_Uncertain SignificanceUnder 5 times35403730
HADHB:c.209+1G>C (Intronic)_PathogenicHADHB:c.980T>C (p.Leu327Pro)_Uncertain SignificanceUnder 5 times28685493
HADHB:c.210-1G>C (Intronic)_PathogenicHADHB:c.686G>T (p.Arg229Leu)_PathogenicUnder 5 times24314034
HADHB:c.210-1G>T (Intronic)_Pathogenic*HADHB:c.210-1G>T (Intronic)_Pathogenic*Under 5 times
HADHB:c.248C>G (p.Ala83Gly)_Likely PathogenicHADHB:c.694G>A (p.Ala232Thr)_Likely PathogenicUnder 5 times35403730
HADHB:c.255-1G>A (Intronic)_PathogenicHADHB:c.998C>T (p.Pro333Leu)_Uncertain SignificanceUnder 5 times35433169
HADHB:c.340A>G (p.Asn114Asp)_Likely PathogenicHADHB:c.1148C>T (p.Ser383Leu)_Likely PathogenicUnder 5 times29519241
HADHB:c.340A>G (p.Asn114Asp)_Likely PathogenicHADHB:c.739C>T (p.Arg247Cys)_Likely PathogenicUnder 5 times29519241
HADHB:c.340A>G (p.Asn114Asp)_Likely PathogenicHADHB:c.919A>G (p.Asn307Asp)_Likely PathogenicUnder 5 times17143551, 29519241
HADHB:c.346G>T (p.Ala116Ser)_Uncertain Significance
HADHA:c.1393G>C (p.Val465Leu)_Uncertain Significance*		Under 5 times
HADHB:c.354+5del (Intronic)_Uncertain SignificanceHADHB:c.354+5del (Intronic)_Uncertain SignificanceUnder 5 times35383965
HADHB:c.357dup (p.Ala120Cysfs*8)_PathogenicHADHB:c.1364T>G (p.Val455Gly)_PathogenicUnder 5 times19880769
HADHB:c.392C>T (p.Ala131Val)_Uncertain SignificanceHADHB:c.427C>G (p.Gln143Glu)_Uncertain SignificanceUnder 5 times32348839
HADHB:c.397A>C (p.Thr133Pro)_Likely PathogenicHADHB:c.881C>G (p.Pro294Arg)_Likely PathogenicUnder 5 times12754706
HADHB:c.397A>G (p.Thr133Ala)_Uncertain SignificanceHADHB:c.1289T>C (p.Phe430Ser)_PathogenicUnder 5 times35403730
HADHB:c.397A>G (p.Thr133Ala)_Uncertain SignificanceHADHB:c.397A>G (p.Thr133Ala)_Uncertain SignificanceUnder 5 times35383965, 35403730
HADHB:c.407T>C (p.Met136Thr)_Likely PathogenicHADHB:c.421G>A (p.Ala141Thr)_Uncertain SignificanceUnder 5 times31521624
HADHB:c.407T>C (p.Met136Thr)_Likely PathogenicHADHB:c.520C>T (p.Arg174Cys)_PathogenicUnder 5 times32348839
HADHB:c.442+614A>G (Intronic)_Likely PathogenicHADHB:c.1136A>G (p.His379Arg)_PathogenicUnder 5 times18693053, 15056246
HADHB:c.443-20_624delinsCACACAAG (Intronic)_Uncertain SignificanceHADHB:c.443-20_624delinsCACACAAG (Intronic)_Uncertain SignificanceUnder 5 times31575911
HADHB:c.490G>A (p.Gly164Ser)_Uncertain SignificanceHADHB:c.686G>A (p.Arg229Gln)_Likely PathogenicUnder 5 times34712195
HADHB:c.522dup (p.His175Serfs*11)_PathogenicHADHB:c.1376C>A (p.Ala459Glu)_Uncertain SignificanceUnder 5 times15902556, 11196108
HADHB:c.580C>T (p.Gln194*)_PathogenicHADHB:c.1115A>T (p.Asp372Val)_Likely PathogenicUnder 5 times33638202
HADHB:c.607C>T (p.Arg203*)_PathogenicHADHB:c.881C>T (p.Pro294Leu)_Likely PathogenicUnder 5 times12754706
HADHB:c.686G>A (p.Arg229Gln)_Likely PathogenicHADHB:c.686G>A (p.Arg229Gln)_Likely PathogenicUnder 5 times30990523
HADHB:c.693del (p.Ala232Leufs*20)_PathogenicHADHB:c.881C>G (p.Pro294Arg)_Likely PathogenicUnder 5 times12754706
HADHB:c.694G>A (p.Ala232Thr)_Likely PathogenicHADHB:c.694G>A (p.Ala232Thr)_Likely PathogenicUnder 5 times35433169
HADHB:c.712C>T (p.Arg238Trp)_Uncertain SignificanceHADHB:c.712C>T (p.Arg238Trp)_Uncertain SignificanceUnder 5 times30682426
HADHB:c.725A>G (p.Asp242Gly)_Likely PathogenicHADHB:c.839G>A (p.Gly280Asp)_Uncertain SignificanceUnder 5 times12754706
HADHB:c.739C>T (p.Arg247Cys)_Likely PathogenicHADHB:c.739C>T (p.Arg247Cys)_Likely PathogenicUnder 5 times28649548
HADHB:c.739C>T (p.Arg247Cys)_Likely PathogenicHADHB:c.817del (p.Asp273Ilefs*20)_PathogenicUnder 5 times19699128, 22841441
HADHB:c.788A>G (p.Asp263Gly)_PathogenicHADHB:c.(-9+1_-8-1)_(109+1_110-1)del (Intronic)_PathogenicUnder 5 times28392417
HADHB:c.788A>G (p.Asp263Gly)_PathogenicHADHB:c.788A>G (p.Asp263Gly)_PathogenicUnder 5 times21549624
HADHB:c.811+82A>G (Intronic)_Uncertain SignificanceHADHB:c.255-713_811+86del (p.Gly86Lysfs*8)_Uncertain SignificanceUnder 5 times32257295
HADHB:c.88_91del (p.Gln31Tyrfs*15)_PathogenicHADHB:c.88_91del (p.Gln31Tyrfs*15)_PathogenicUnder 5 times20659813
HADHB:c.919A>G (p.Asn307Asp)_Likely PathogenicHADHB:c.1165A>G (p.Asn389Asp)_PathogenicUnder 5 times29519241
HADHB:c.976G>C (p.Ala326Pro)_Likely PathogenicHADHB:c.976G>C (p.Ala326Pro)_Likely PathogenicUnder 5 times12548384
SLC25A20:c.109C>T (p.Arg37*)_PathogenicSLC25A20:c.706C>T (p.Arg236*)_PathogenicUnder 5 times34626609
SLC25A20:c.10C>T (p.Gln4*)_Pathogenic
CPT1A:c.454-6C>G (Intronic)_Uncertain Significance
SLC25A20:c.779_781del (p.Glu260del)_Uncertain Significance*		Under 5 times
SLC25A20:c.110G>C (p.Arg37Pro)_Likely PathogenicSLC25A20:c.110G>C (p.Arg37Pro)_Likely PathogenicUnder 5 times31575911
SLC25A20:c.160_163delinsTGGG (p.Gly54_Thr55delinsTrpAla)_PathogenicSLC25A20:c.160_163delinsTGGG (p.Gly54_Thr55delinsTrpAla)_PathogenicUnder 5 times15365988
SLC25A20:c.199-10T>G (Intronic)_Likely PathogenicSLC25A20:c.199-10T>G (Intronic)_Likely Pathogenic11-20 timesHypoglycemia (6), Lethargy (6), Hypotonia (6), Arrhythmia (5), Pulmonary/respiratory (5), Cardiac arrest (4), Hyperammonemia (4), Encephalopathy (3), Liver abnormality (3), Seizure (3), Cardiomyopathy (3), Hypothermia (2), Gastrointestinal-other (1), Developmental delay (1), Anemia (1), Cyanosis (1....12559850, 25459972, 25604974, 26117549, 27066551, 29137068, 31108048, 33194920, 34626609, 35360862, 36419912, 8739960, 12559850
SLC25A20:c.199-10T>G (Intronic)_Likely PathogenicSLC25A20:c.1A>G (p.Met1Val)_PathogenicUnder 5 times29137068
SLC25A20:c.199-10T>G (Intronic)_Likely PathogenicSLC25A20:c.576G>A (p.Trp192*)_PathogenicUnder 5 times24088670
SLC25A20:c.199-10T>G (Intronic)_Likely PathogenicSLC25A20:c.84del (p.His29Thrfs*100)_PathogenicUnder 5 times1598097, 11592821
SLC25A20:c.1A>G (p.Met1Val)_PathogenicSLC25A20:c.199-10T>G (Intronic)_Likely PathogenicUnder 5 times35360862
SLC25A20:c.241G>A (p.Gly81Arg)_PathogenicSLC25A20:c.241G>A (p.Gly81Arg)_PathogenicUnder 5 times23322164, 23850792
SLC25A20:c.254T>A (p.Met85Lys)_Uncertain Significance
ACADVL:c.343-3C>G (Intronic)_Uncertain Significance*		Under 5 times
SLC25A20:c.270del (p.Phe91Leufs*38)_PathogenicSLC25A20:c.270del (p.Phe91Leufs*38)_PathogenicUnder 5 times8450053, 11592821
SLC25A20:c.270del (p.Phe91Leufs*38)_PathogenicSLC25A20:c.804del (p.Phe269Serfs*4)_PathogenicUnder 5 times35360862
SLC25A20:c.326+1del (Intronic)_PathogenicSLC25A20:c.10C>T (p.Gln4*)_PathogenicUnder 5 times36109795
SLC25A20:c.326+1del (Intronic)_PathogenicSLC25A20:c.199-10T>G (Intronic)_Likely PathogenicUnder 5 times11592821, 9290607
SLC25A20:c.326+1del (Intronic)_PathogenicSLC25A20:c.609-3C>G (Intronic)_PathogenicUnder 5 times16919490
SLC25A20:c.326+1del (Intronic)_PathogenicSLC25A20:c.691G>C (p.Asp231His)_PathogenicUnder 5 times15365988
SLC25A20:c.383T>A (p.Met128Lys)_Uncertain SignificanceSLC25A20:c.383T>A (p.Met128Lys)_Uncertain SignificanceUnder 5 times26589311
SLC25A20:c.397C>T (p.Arg133Trp)_PathogenicSLC25A20:c.658G>A (p.Gly220Arg)_Uncertain SignificanceUnder 5 times32905135
SLC25A20:c.397C>T (p.Arg133Trp)_PathogenicSLC25A20:c.718+1G>C (Intronic)_PathogenicUnder 5 times15365988
SLC25A20:c.397C>T (p.Arg133Trp)_PathogenicSLC25A20:c.752_761del (p.Asp251Glyfs*3)_PathogenicUnder 5 times21605995
SLC25A20:c.397C>T (p.Arg133Trp)_PathogenicSLC25A20:c.779_781del (p.Glu260del)_Uncertain SignificanceUnder 5 times21605995
SLC25A20:c.417+1G>T (Intronic)_PathogenicSLC25A20:c.3G>A (Intronic)_PathogenicUnder 5 times23322164, 23850792
SLC25A20:c.47C>T (p.Ala16Val)_Uncertain SignificanceSLC25A20:c.463T>C (p.Cys155Arg)_Likely PathogenicUnder 5 times31561269
SLC25A20:c.496C>T (p.Arg166*)_PathogenicSLC25A20:c.496C>T (p.Arg166*)_PathogenicUnder 5 times10384384, 10653336, 12559850
SLC25A20:c.496C>T (p.Arg166*)_PathogenicSLC25A20:c.528del (p.Met177Cysfs*12)_PathogenicUnder 5 times21605995
SLC25A20:c.50G>C (p.Gly17Ala)_Uncertain SignificanceSLC25A20:c.326+1del (Intronic)_PathogenicUnder 5 times32070364
SLC25A20:c.532C>T (p.Arg178*)_PathogenicSLC25A20:c.160_163delinsTGGG (p.Gly54_Thr55delinsTrpAla)_PathogenicUnder 5 times15365988, 25614308, 25614308
SLC25A20:c.532C>T (p.Arg178*)_PathogenicSLC25A20:c.532C>T (p.Arg178*)_PathogenicUnder 5 times12801121
SLC25A20:c.532C>T (p.Arg178*)_PathogenicSLC25A20:c.533G>A (p.Arg178Gln)_PathogenicUnder 5 times12559850
SLC25A20:c.532C>T (p.Arg178*)_PathogenicSLC25A20:c.94G>A (p.Asp32Asn)_Likely PathogenicUnder 5 times12559850
SLC25A20:c.533G>A (p.Arg178Gln)_PathogenicSLC25A20:c.533G>A (p.Arg178Gln)_PathogenicUnder 5 times12559850
SLC25A20:c.536A>G (p.Asp179Gly)_Uncertain SignificanceSLC25A20:c.536A>G (p.Asp179Gly)_Uncertain SignificanceUnder 5 times25614308
SLC25A20:c.576G>A (p.Trp192*)_PathogenicSLC25A20:c.106-2A>T (Intronic)_PathogenicUnder 5 times24088670
SLC25A20:c.59G>A (p.Gly20Asp)_Uncertain SignificanceSLC25A20:c.59G>A (p.Gly20Asp)_Uncertain SignificanceUnder 5 times25614308
SLC25A20:c.609-3C>G (Intronic)_PathogenicSLC25A20:c.326+1del (Intronic)_PathogenicUnder 5 times25604974
SLC25A20:c.609-3C>G (Intronic)_PathogenicSLC25A20:c.609-3C>G (Intronic)_PathogenicUnder 5 times16919490
SLC25A20:c.673_782del (p.Ala225Serfs*27)_Likely PathogenicSLC25A20:c.261_388del (p.Val88Trpfs*53)_PathogenicUnder 5 times9686371, 21605995
SLC25A20:c.67T>C (p.Cys23Arg)_Likely PathogenicSLC25A20:c.67T>C (p.Cys23Arg)_Likely PathogenicUnder 5 times21605995
SLC25A20:c.689C>G (p.Pro230Arg)_Likely PathogenicSLC25A20:c.609-1G>A (Intronic)_PathogenicUnder 5 times12559850
SLC25A20:c.691G>C (p.Asp231His)_PathogenicSLC25A20:c.65_69dup (p.Leu24Cysfs*107)_PathogenicUnder 5 times12559850
SLC25A20:c.713A>G (p.Gln238Arg)_PathogenicSLC25A20:c.713A>G (p.Gln238Arg)_PathogenicUnder 5 times15057979, 23867825
SLC25A20:c.715A>C (p.Thr239Pro)_Uncertain SignificanceSLC25A20:c.715A>C (p.Thr239Pro)_Uncertain SignificanceUnder 5 times31319225
SLC25A20:c.719-9_719-1dup (Intronic)_Uncertain SignificanceSLC25A20:c.199-10T>G (Intronic)_Likely PathogenicUnder 5 times31108048, 33194920
SLC25A20:c.804del (p.Phe269Serfs*4)_PathogenicSLC25A20:c.160_163delinsTGGG (p.Gly54_Thr55delinsTrpAla)_PathogenicUnder 5 times21605995
SLC25A20:c.804del (p.Phe269Serfs*4)_PathogenicSLC25A20:c.804del (p.Phe269Serfs*4)_PathogenicUnder 5 times12559850
SLC25A20:c.823C>T (p.Arg275*)_PathogenicSLC25A20:c.? (Deletion (Exon 5-9))_PathogenicUnder 5 times21605995
SLC25A20:c.824G>A (p.Arg275Gln)_Likely PathogenicSLC25A20:c.824G>A (p.Arg275Gln)_Likely PathogenicUnder 5 times32337051
SLC25A20:c.82G>T (p.Gly28Cys)_PathogenicSLC25A20:c.82G>T (p.Gly28Cys)_PathogenicUnder 5 times33123633, 34374989, 9544911, 12559850
SLC25A20:c.842C>T (p.Ala281Val)_PathogenicSLC25A20:c.842C>T (p.Ala281Val)_PathogenicUnder 5 times15365988
SLC25A20:c.843+4_843+50del (Intronic)_Likely PathogenicSLC25A20:c.843+4_843+50del (Intronic)_Likely PathogenicUnder 5 times10472533, 15365988
SLC25A20:c.897dup (p.Asn300Glnfs*24)_PathogenicSLC25A20:c.269T>G (p.Phe90Cys)_Likely PathogenicUnder 5 times36109795
SLC25A20:c.897dup (p.Asn300Glnfs*24)_PathogenicSLC25A20:c.897dup (p.Asn300Glnfs*24)_PathogenicUnder 5 times11162577, 9399886
SLC25A20:c.897dup (p.Asn300Glnfs*24)_Pathogenic
SLC25A20:c.10C>T (p.Gln4*)_Pathogenic*		Under 5 times

  • * Indicates variants where the phase is unknown, and it cannot be determined whether the variants represent a single allele. In these instances, the variant with the higher frequency is placed in the Allele 1 column for display purposes only.
  • Don’t see a variant of interest? Contribute data through the Register Variant form.

      • References:

    1. Merritt JL, et al. Rev Endocr Metab Disord. 2020;21:479-493.
    2. www.faodinfocus.com
    3. Vockley et al. Molecular Genetics and Metabolism v 116, (1-2), 2015, pp 53-60.

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