Carnitine Palmitoyltransferase II (CPT II) Deficiency

TITLE

CPT2

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Introduction

The CPT2 gene, carnitine palmitoyltransferase 2, is located on chromosome 1p32.3 and has 5 exons spanning ~20kb (1). It encodes a 685 amino acid nuclear protein, carnitine palmitoyltransferase II or CPT II, which is transported to the mitochondrial inner membrane (2). Together with carnitine palmitoyltransferase I, carnitine palmitoyltransferase II oxidizes long-chain fatty acids in the mitochondria (3). The protein is involved in the intramitochondrial synthesis of acylcarnitines from accumulated acyl-CoA metabolites (4,5) and their reconversion back into the respective acyl-CoA esters that can then undergo beta-oxidation, an essential step for the mitochondrial uptake of long-chain fatty acids and their subsequent beta-oxidation in the mitochondrion. The enzyme is active with medium (C8-C12) and long-chain (C14-C18) acyl-CoA esters (5).

The protein is expressed in liver, colon and other tissues (6).

More than 160 disease-causing variants in the CPT2 gene have been identified in CPT patients and are represented in this database. The variants occur across the entire length of the gene and include frameshift, splice site, copy-number, nonsense and missense variants (7).

Variant List

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

Gene Structure
Variant in the table
Search by allele to find variants reported together
Table Headers Definitions HGVS Nomenclature ACMG Classification
Variant_IDVariantAmino_Acid_ChangeProtein DomainDisplay ACMG CallACMG_Call_Last_Revised_DateVariant_TypeEffect_Typegene_symbolTimes_Observed_RangePMIDArticle_CountPhenotypeDisease subtypeVariant_StartLocation
CPT2_0001c.?p.Tyr290*mt-matrix (Mitochondrial matrix)Pathogenic03/01/2023CPT2<3146055001Abnormal renal morphology, Renal insufficiency/failureCPT2
CPT2_0002c.1769G>Ap.Ser590Asnmt-matrix (Mitochondrial matrix)Likely Pathogenic03/01/2023CPT2<3234752051Myalgia, MyoglobinuriaCPT21769
CPT2_0003c.1352G>Ap.Gly451Glumt-matrix (Mitochondrial matrix)Uncertain Significance03/01/2023CPT2<3234752051MyoglobinuriaCPT21352
CPT2_0004c.?p.His369Glnmt-matrix (Mitochondrial matrix)Likely Pathogenic03/01/2023CPT2<3239119071Muscle switching, Myalgia, MyoglobinuriaCPT2
CPT2_0005c.1436A>Tp.Tyr479Phemt-matrix (Mitochondrial matrix)Likely Pathogenic03/01/2023CPT23-512707442, 246024952MyoglobinuriaCPT21436
CPT2_0006c.1239_1240delGAp.Lys414Thrfs*7mt-matrix (Mitochondrial matrix)Pathogenic03/01/2023CPT2<3124102081Abnormal liver morphology, Abnormal renal morphology, Abnormality of metabolism/homeostasis, Arrhythmia, Cardiac-other, Diarrhea, Fever, Hypoglycemia, Lethargy, Nasal congestion, Poor feeding, Pulmonary/respiratory, Renal insufficiency/failure, Seizure, VomitingCPT21239
CPT2_0007c.?p.Phe448Leumt-matrix (Mitochondrial matrix)Likely Pathogenic03/01/2023CPT23-5114776131Abnormal liver morphology, Abnormal renal morphology, Abnormality of metabolism/homeostasis, Absence of corpus callosum, Brain calcifications, Cardiac-other, Intracerebral periventricular calcifications, Periventricular calcifications, Renal insufficiency/failure, Suspected cerebral hemorrhage, VentriculomegalyCPT2
CPT2_0008c.?p.Gly600Argmt-matrix (Mitochondrial matrix)Pathogenic03/01/2023CPT2<3146055001Arrhythmia, Hepatic failureCPT2
CPT2_0009c.1333T>Cp.Cys445Argmt-matrix (Mitochondrial matrix)Uncertain Significance03/01/2023CPT2<3308815201CPT21333
CPT2_0010c.?p.Val605Leumt-matrix (Mitochondrial matrix)Pathogenic03/01/2023CPT2<3313489951CPT2
CPT2_0011c.?p.Leu72Phemt-matrix (Mitochondrial matrix)Likely Pathogenic03/01/2023CPT2<3146055001CPT2
CPT2_0012c.28_29insAGCAAGp.Trp10*Not SpecifiedPathogenic03/01/2023InsertionNonsenseCPT2<3302939901Abnormal renal morphology, Facial dysmorphia, Polymicrogyria of cns with calcificationCPT228Exon 1
CPT2_0013c.38delp.Gly13Alafs*60Not SpecifiedPathogenic05/16/2023DeletionFrameshiftCPT2<3169962871CPT238Exon 1
CPT2_0014c.36_43dupp.Ala15Glyfs*61Not SpecifiedPathogenic03/01/2023DuplicationFrameshiftCPT2<3169962871CPT236Exon 1
CPT2_0015c.62C>Ap.Pro21HisNot SpecifiedLikely Pathogenic03/01/2023SNVMissenseCPT2<3224940761Gastrointestinal-other, Hypotonia, Muscle weakness, Poor oral intakeCPT262Exon 1
CPT2_0016c.98delp.Gln33Argfs*40mt-matrix (Mitochondrial matrix)Pathogenic03/01/2023DeletionFrameshiftCPT2<321913903, 309572552Muscle weakness, MyoglobinuriaCPT298Exon 1
CPT2_0017c.99G>Cp.Gln33Hismt-matrix (Mitochondrial matrix)Likely Pathogenic03/01/2023SNVMissenseCPT2<3224940761Gastrointestinal-other, Hypotonia, Muscle weakness, Poor oral intakeCPT299Exon 1
CPT2_0018c.110_111dupp.Ser38Alafs*36mt-matrix (Mitochondrial matrix)Pathogenic03/01/2023DuplicationFrameshiftCPT26-1010862092, 12410208, 12673791, 12840153, 16996287, 20505667, 21378393, 24898617, 300073569Abnormal liver morphology, Abnormal renal morphology, Abnormality of metabolism/homeostasis, Arrhythmia, Cardiac-other, Hypoglycemia, Myoglobinuria, Pain, Pulmonary/respiratory, Renal insufficiency/failure, Rhabdomyolysis, SeizureCPT2110Exon 1
CPT2_0019c.122C>Tp.Pro41Leumt-matrix (Mitochondrial matrix)Uncertain Significance03/01/2023SNVMissenseCPT2<3228990911RhabdomyolysisCPT2122Exon 1
CPT2_0020c.122_130delp.Pro41_Met43delmt-matrix (Mitochondrial matrix)Uncertain Significance03/01/2023DeletionDeletionCPT2<3352816631Encephalopathy, SeizureCPT2122Exon 1
CPT2_0021c.131_133delinsCCCp.His44_Tyr45delinsProHismt-matrix (Mitochondrial matrix)Uncertain Significance05/16/2023DelinsMissenseCPT2<30CPT2131Exon 1
CPT2_0022c.136C>Tp.Gln46*mt-matrix (Mitochondrial matrix)Pathogenic03/01/2023SNVNonsenseCPT2<3316384951Abnormality of metabolism/homeostasis, Hyperammonemia, Hypoglycemia, HypothermiaCPT2136Exon 1
CPT2_0023c.149C>Ap.Pro50Hismt-matrix (Mitochondrial matrix)Pathogenic05/16/2023SNVMissenseCPT230+10398218, 10862092, 12410208, 12673791, 12707442, 15622536, 16996287, 17936304, 20505667, 24602495, 29478820, 30455135, 30897730, 30957255, 31554424, 33123633, 34449523, 7711730, 904871819Decreased feeding, Diarrhea, Fever, Hypoglycemia, Lethargy, Myalgia, Myoglobinuria, Nasal congestion, Pain, Poor feeding, Renal insufficiency/failure, Rhabdomyolysis, VomitingCPT2149Exon 1
CPT2_0024c.151A>Gp.Arg51Glymt-matrix (Mitochondrial matrix)Uncertain Significance03/01/2023SNVMissenseCPT2<322841441, 295524942Abnormality of metabolism/homeostasis, Decreased liver function, Hypoglycemia, Myalgia, Reye syndrome-like episodes, Seizure, UnconsciousnessCPT2151Exon 1
CPT2_0025c.152+5G>AIntronicNot SpecifiedPathogenic05/16/2023SNVSplice regionCPT23-50CPT2152Intron 1
CPT2_0026c.161T>Gp.Ile54Sermt-matrix (Mitochondrial matrix)Uncertain Significance03/01/2023SNVMissenseCPT2<3358599601Fever, Reduced feeding, VomitingCPT2161Exon 2
CPT2_0027c.164C>Gp.Pro55Argmt-matrix (Mitochondrial matrix)Likely Pathogenic03/01/2023SNVMissenseCPT2<3185504081Abnormal renal morphology, Developmental delay, Periventricular calcifications, Prominent lenticulostriate vascular markings, VentriculomegalyCPT2164Exon 2
CPT2_0028c.182_203delp.Ile61Argfs*5mt-matrix (Mitochondrial matrix)Pathogenic03/01/2023DeletionFrameshiftCPT2<323475205, 30455135, 308977303Muscle weakness, MyoglobinuriaCPT2182Exon 2
CPT2_0029c.200C>Gp.Ala67Glymt-matrix (Mitochondrial matrix)Uncertain Significance03/01/2023SNVMissenseCPT2<3294788201Myalgia, Rhabdomyolysis, VomitingCPT2200Exon 2
CPT2_0030c.213_214delp.Leu72Glufs*2mt-matrix (Mitochondrial matrix)Pathogenic05/16/2023DeletionFrameshiftCPT2<30CPT2213Exon 2
CPT2_0031c.233+2T>AIntronicNot SpecifiedPathogenic03/01/2023SNVSplice donorCPT2<3287476901CPT2233Intron 2
CPT2_0032c.234-1G>AIntronicNot SpecifiedPathogenic03/01/2023SNVSplice acceptorCPT23-5125608721Abnormal liver morphology, Arrhythmia, Cardiac-other, Hypotonia, Lethargy, Pulmonary/respiratory, SeizureCPT2234Intron 2
CPT2_0033c.250T>Cp.Cys84Argmt-matrix (Mitochondrial matrix)Uncertain Significance03/01/2023SNVMissenseCPT2<3169962871CPT2250Exon 3
CPT2_0034c.256_257delp.Ser86Phefs*2mt-matrix (Mitochondrial matrix)Pathogenic03/01/2023DeletionFrameshiftCPT2<3169962871CPT2256Exon 3
CPT2_0035c.298delp.Val100Leufs*30mt-matrix (Mitochondrial matrix)Pathogenic03/01/2023DeletionFrameshiftCPT2<3361097951Myalgia, RhabdomyolysisCPT2298Exon 3
CPT2_0036c.302C>Tp.Ala101Valmt-matrix (Mitochondrial matrix)Likely Benign03/01/2023SNVMissenseCPT2<316996287, 329788412CPT2302Exon 3
CPT2_0037c.313C>Tp.Gln105*mt-matrix (Mitochondrial matrix)Pathogenic03/01/2023SNVNonsenseCPT2<3288010731RhabdomyolysisCPT2313Exon 3
CPT2_0038c.338C>Tp.Ser113Leumt-matrix (Mitochondrial matrix)Pathogenic05/16/2023SNVMissenseCPT230+10090476, 10398215, 10398218, 10734268, 10738923, 10862092, 10868782, 11001791, 11585077, 11595519, 11994355, 11999976, 12362414, 12673791, 12707442, 12809643, 12840153, 14605500, 14970749, 15613406, 15622536, 15776096, 16168441, 16225172, 16671104, 16996287, 17936304, 18471680, 18550408, 18645163, 20505667, 20810031, 21378393, 21913903, 23184072, 23475205, 24305961, 24398345, 24563797, 24602495, 24786990, 24843804, 24898617, 25513977, 26913919, 27034144, 27067077, 27085974, 27629963, 27843283, 28468868, 28779239, 28801073, 28871440, 29478820, 29731937, 29744303, 30007356, 30149802, 30262761, 30455135, 30514913, 30881520, 30897730, 30957255, 31070454, 31191612, 31235404, 31407473, 31517061, 31624327, 31638495, 32463482, 32721234, 32793418, 32928639, 32978841, 33122977, 33123633, 33201363, 33304817, 35256318, 36109795, 36422281, 36473042, 36478999, 36685561, 7711426, 7711730, 8651281, 9048718, 9309694, 9562964, 975871294Abnormal liver morphology, Abnormality of metabolism/homeostasis, Amenorrhoeic, Asthenia, Ataxia, Atn, Bilateral hearing loss, Cardiac arrest, Cardiac-other, Cardiomyopathy, Cola colored urine, Consciousness disturbances, Contractures, Decreased muscle tone, Diarrhea, Elevated circulating creatine kinase concentration, Exercise intolerance, Exercise-induced rhabdomyolysis, Exhausted, Fever, Gastrointestinal-other, Hyperammonemia, Hyperlipidemia, Hypertension, Hypoglycemia, Hypotonia, Icteric appearance, Inability to move legs for several hours, Indirect hyperbilirubinemia, Ira, Lethargy, Lipid storage myopathy, Loss of consciousness, Malaise/fatigue, Marked paucity of spontaneous movements, Muscle spasm, Muscle stiffness, Muscle weakness, Myalgia, Myoglobinemia, Myoglobinuria, Myopathy, Nausea, Pain, Pale, Pigmenturia, Polypneic, Pulmonary/respiratory, Recurrent, Recurrent myositis, Renal insufficiency/failure, Respiratory tract infection, Restricted movement, Rhabdomyolysis, Rigidity, Seizure, Unable to walk, Urine discoloration, Vomiting, Weakness of muscles of respirationCPT2338Exon 3
CPT2_0039c.340+1G>AIntronicNot SpecifiedPathogenic03/01/2023SNVSplice donorCPT2<323475205, 30455135, 308977303Muscle weakness, MyoglobinuriaCPT2340Intron 3
CPT2_0040c.340+3A>TIntronicNot SpecifiedLikely Pathogenic03/01/2023SNVSplice regionCPT2<328871440, 329286392CPT2340Intron 3
CPT2_0041c.340+5G>AIntronicNot SpecifiedLikely Pathogenic03/01/2023SNVSplice regionCPT23-512809643, 30455135, 308977303Muscle weakness, Myalgia, RhabdomyolysisCPT2340Intron 3
CPT2_0042c.341-2621_1121delIntronicNot SpecifiedUncertain Significance03/01/2023DeletionCPT2<3361097951Atn, Myoglobinuria, Myopathy, RhabdomyolysisCPT2341Exon 4, Intron 3
CPT2_0043c.341-2A>GIntronicNot SpecifiedPathogenic03/01/2023SNVSplice acceptorCPT2<3309572551CPT2341Intron 3
CPT2_0044c.359A>Gp.Tyr120Cysmt-matrix (Mitochondrial matrix)Pathogenic05/16/2023SNVMissenseCPT26-1010862092, 16996287, 185504083MyoglobinuriaCPT2359Exon 4
CPT2_0045c.362T>Ap.Leu121Glnmt-matrix (Mitochondrial matrix)Likely Pathogenic03/01/2023SNVMissenseCPT2<3219139031MyoglobinuriaCPT2362Exon 4
CPT2_0046c.365C>Tp.Ser122Phemt-matrix (Mitochondrial matrix)Likely Pathogenic03/01/2023SNVMissenseCPT23-5305149131CPT2365Exon 4
CPT2_0047c.370C>Tp.Arg124*mt-matrix (Mitochondrial matrix)Pathogenic03/01/2023SNVNonsenseCPT26-1016996287, 18645163, 22652984, 24305961, 32463482, 95629646Abnormal liver morphology, Abnormal renal morphology, Abnormality of metabolism/homeostasis, Arrhythmia, Calcification or vasculopathy in the basal ganglia, Cardiac-other, Cerebellar cortex, Cerebellum and brain stem), Hyperammonemia, Hypertension, Hypoglycemia, Increased oxygen requirement, Large, Lethargy, Loss of mature neurons, Low-set ears, Microcalcification, Micrognathia, Multiple intracranial cysts (in the neocortex, Muscle spasm, Muscle weakness, Myalgia, Polymicrogyria, Prominent philtrum, Pulmonary/respiratory, Renal insufficiency/failure, Rhabdomyolysis, Small nose with a beaked appearance, Soft dysmorphic features, Temperature lability, White matter of the cerebrum, Widespread gliosisCPT2370Exon 4
CPT2_0048c.371G>Ap.Arg124Glnmt-matrix (Mitochondrial matrix)Likely Pathogenic03/01/2023SNVMissenseCPT2<312673791, 12840153, 21378393, 248986174RhabdomyolysisCPT2371Exon 4
CPT2_0049c.371G>Cp.Arg124Promt-matrix (Mitochondrial matrix)Pathogenic03/01/2023SNVMissenseCPT2<3316384951Abnormality of metabolism/homeostasis, Hyperammonemia, Hypoglycemia, HypothermiaCPT2371Exon 4
CPT2_0050c.437A>Cp.Asn146Thrmt-matrix (Mitochondrial matrix)Likely Pathogenic03/01/2023SNVMissenseCPT2<312673791, 12840153, 213783933RhabdomyolysisCPT2437Exon 4
CPT2_0051c.451C>Tp.Arg151Trpmt-matrix (Mitochondrial matrix)Pathogenic03/01/2023SNVMissenseCPT26-1017936304, 28529889, 28801073, 30514913, 324898845Abnormal liver morphology, Abnormality of metabolism/homeostasis, Cardiac arrest, Cardiac-other, Decreased liver function, Fever, Hyperammonemia, Hypertrophic cardiomyopathy, Hypertrophy of the gallbladder wall, Hypoglycemia, Hypoketotic hypoglycemia, Lethargy, Pulmonary/respiratory, Renal insufficiency/failure, RhabdomyolysisCPT2451Exon 4
CPT2_0052c.452G>Ap.Arg151Glnmt-matrix (Mitochondrial matrix)Pathogenic03/01/2023SNVMissenseCPT211-2012673791, 14605500, 17936304, 18645163, 21913903, 27843283, 30455135, 30897730, 97587129Abnormality of the liver, Exercise intolerance, Hypotonia, Muscle spasm, Myalgia, Myoglobinuria, Pulmonary/respiratory, Renal insufficiency/failure, Rhabdomyolysis, SeizureCPT2452Exon 4
CPT2_0053c.481C>Tp.Arg161Trpmt-matrix (Mitochondrial matrix)Likely Pathogenic03/01/2023SNVMissenseCPT26-1012673791, 22854105, 28801073, 30514913, 31235404, 331236336Cardiac arrest, Cola colored urine, Diffuse brain edema, Encephalopathy, Generalized tonic-clonic seizures, Hyperammonemia, Hyperlipidemia, Hypertension, Hypoglycemia, Hypoketotic hypoglycemia, Malaise/fatigue, Myalgia, No voluntary movement of his limbs, Persistent hypertonic posture, Rhabdomyolysis, Seizure, Severe neurological sequelaeCPT2481Exon 4
CPT2_0054c.482G>Ap.Arg161Glnmt-matrix (Mitochondrial matrix)Likely Pathogenic03/01/2023SNVMissenseCPT2<3317702511Anuria, Fever, Malaise/fatigue, Myalgia, Pulmonary/respiratory, Renal insufficiency/failure, Rhabdomyolysis, Urine discolorationCPT2482Exon 4
CPT2_0055c.517C>Tp.Pro173Sermt-matrix (Mitochondrial matrix)Uncertain Significance03/01/2023SNVMissenseCPT2<3219139031Muscle weakness, MyoglobinuriaCPT2517Exon 4
CPT2_0056c.520G>Ap.Glu174Lysmt-matrix (Mitochondrial matrix)Pathogenic03/01/2023SNVMissenseCPT26-1018577113, 22841441, 25919294, 2752669, 28801073, 29552494, 30514913, 35360862, 8682496, 960045610Abnormal liver morphology, Abnormality of metabolism/homeostasis, Arrhythmia, Cardiac arrest, Cardiac-other, Cyanosis, Decreased liver function, Hyperammonemia, Hypoglycemia, Hypoketotic hypoglycemia, Intra-alveolar hemorrhage, Lethargy, Macrovesicular steatosis, Muscle weakness, Myalgia, Myoglobinuria, Pigmenturia, Pleural effusion, Reye syndrome-like episodes, Rhabdomyolysis, Seizure, Sudden death, UnconsciousnessCPT2520Exon 4
CPT2_0057c.534_558delinsTp.Leu178_Ile186delinsPhemt-matrix (Mitochondrial matrix)Pathogenic03/01/2023DelinsProtein alteringCPT211-2010862092, 12560872, 16168441, 16996287, 17936304, 21641254, 21913903, 30957255, 97587129Abnormal liver morphology, Abnormality of metabolism/homeostasis, Arrhythmia, Cardiac-other, Dandy-walker syndrome, Dysmorphic facial features, Fetal hydrocephalus, Fever, Hypotonia, Lethargy, Macrocephalus, Muscle weakness, Myalgia, Myoglobinuria, Pulmonary/respiratory, Renal insufficiency/failure, Seizure, Urine discolorationCPT2534Exon 4
CPT2_0058c.563T>Cp.Phe188SermtIM (Mitochondrial inner membrane)Likely Pathogenic03/01/2023SNVMissenseCPT2<3156134061Myalgia, RhabdomyolysisCPT2563Exon 4
CPT2_0059c.577C>Tp.Arg193CysmtIM (Mitochondrial inner membrane)Likely Pathogenic03/01/2023SNVMissenseCPT2<3264369621Limb-girdle muscular dystrophy, MyalgiaCPT2577Exon 4
CPT2_0060c.587C>Tp.Pro196LeumtIM (Mitochondrial inner membrane)Uncertain Significance03/01/2023SNVMissenseCPT2<3352816631CPT2587Exon 4
CPT2_0061c.593C>Gp.Ser198CysmtIM (Mitochondrial inner membrane)Uncertain Significance03/01/2023SNVMissenseCPT2<3355726071CPT2593Exon 4
CPT2_0062c.602G>Ap.Trp201*mtIM (Mitochondrial inner membrane)Pathogenic03/01/2023SNVNonsenseCPT2<320505667, 300073562Pain, RhabdomyolysisCPT2602Exon 4
CPT2_0063c.611C>Tp.Ala204ValmtIM (Mitochondrial inner membrane)Uncertain Significance05/16/2023SNVMissenseCPT2<30CPT2611Exon 4
CPT2_0064c.628T>Gp.Tyr210Aspmt-matrix (Mitochondrial matrix)Likely Pathogenic03/01/2023SNVMissenseCPT23-5146055001CardiomyopathyCPT2628Exon 4
CPT2_0065c.631C>Tp.Pro211Sermt-matrix (Mitochondrial matrix)Likely Pathogenic03/01/2023SNVMissenseCPT23-5353422661Limb-girdle muscle weakness, Muscle weakness, Myalgia, Myoglobinuria, RhabdomyolysisCPT2631Exon 4
CPT2_0066c.638A>Gp.Asp213Glymt-matrix (Mitochondrial matrix)Pathogenic03/01/2023SNVMissenseCPT23-515622536, 346266092Apnoea, Hypoglycemia, Hypothermia, Lethargy, Poor feeding, Pulmonary/respiratoryCPT2638Exon 4
CPT2_0067c.641T>Cp.Met214Thrmt-matrix (Mitochondrial matrix)Pathogenic03/01/2023SNVMissenseCPT2<312707442, 28801073, 305149133RhabdomyolysisCPT2641Exon 4
CPT2_0068c.647A>Gp.Gln216Argmt-matrix (Mitochondrial matrix)Likely Pathogenic03/01/2023SNVMissenseCPT2<3219214221CPT2647Exon 4
CPT2_0069c.656G>Ap.Arg219Glnmt-matrix (Mitochondrial matrix)Uncertain Significance05/16/2023SNVMissenseCPT2<3305149131CPT2656Exon 4
CPT2_0070c.680C>Tp.Pro227Leumt-matrix (Mitochondrial matrix)Pathogenic05/16/2023SNVMissenseCPT211-2018550408, 25827434, 9758712, None (Abstract only)4Abnormal cerebral cortex morphology, Abnormal liver morphology, Abnormal renal morphology, Arrhythmia, Bilateral polymicrogyria, Broad nasal bridge, Cardiac-other, Cerebellar vermix hypoplasia, Dandy-walker malformation, Dilatation of cerebral ventricles, Ductal plate malformation, Exophthalmos, Facial dysmorphism with macrocrania, Fetal cerebral dysgenesis, Heart and kidney, Hydrocephaly, Hyperammonemia, Hypertrophic cardiomyopathy, Hypoglycemia, Hypotonia, Lipid storage in liver, Macrocephaly, Massive edema, Occipital polymicrogyria, Prominent forehead, Pulmonary/respiratory, Renal insufficiency/failure, Right posterior temporal and left occipital infarcts, Seizure, Severe major hydrocephaly with pachygyria, Vermian agenesis, Vermian hypoplasiaCPT2680Exon 4
CPT2_0071c.691C>Tp.Arg231Trpmt-matrix (Mitochondrial matrix)Likely Pathogenic03/01/2023SNVMissenseCPT23-516996287, 24602495, 30455135, 308977304Myalgia, MyoglobinuriaCPT2691Exon 4
CPT2_0072c.733G>Ap.Val245Ilemt-matrix (Mitochondrial matrix)Uncertain Significance05/16/2023SNVMissenseCPT2<30CPT2733Exon 4
CPT2_0073c.739A>Tp.Arg247Trpmt-matrix (Mitochondrial matrix)Likely Pathogenic03/01/2023SNVMissenseCPT2<3179363041Exercise intolerance, Myalgia, Myoglobinuria, Renal insufficiency/failureCPT2739Exon 4
CPT2_0074c.746delp.Gly249Glufs*16mt-matrix (Mitochondrial matrix)Pathogenic03/01/2023DeletionFrameshiftCPT2<321921422, 259192942Brain edema, Bulged anterior fontanelle, Lethargy, Seizure, Sudden deathCPT2746Exon 4
CPT2_0075c.748_749delp.Asn250Phefs*5mt-matrix (Mitochondrial matrix)Pathogenic05/16/2023DeletionFrameshiftCPT23-5189256711CPT2748Exon 4
CPT2_0076c.853G>Ap.Glu285Lysmt-matrix (Mitochondrial matrix)Uncertain Significance05/16/2023SNVMissenseCPT2<30CPT2853Exon 4
CPT2_0077c.886C>Tp.Arg296*mt-matrix (Mitochondrial matrix)Pathogenic03/01/2023SNVNonsenseCPT2<314605500, 343941772Myalgia, RhabdomyolysisCPT2886Exon 4
CPT2_0078c.887G>Ap.Arg296Glnmt-matrix (Mitochondrial matrix)Pathogenic03/01/2023SNVMissenseCPT2<314605500, 350282652Abnormal liver morphology, Dehydration, Myalgia, Restlessness, Rhabdomyolysis, Seizure, VomitingCPT2887Exon 4
CPT2_0079c.887G>Tp.Arg296Leumt-matrix (Mitochondrial matrix)Likely Pathogenic03/01/2023SNVMissenseCPT2<3219139031Muscle weakness, MyoglobinuriaCPT2887Exon 4
CPT2_0080c.896_906dupp.Arg303Glyfs*8mt-matrix (Mitochondrial matrix)Pathogenic03/01/2023DuplicationFrameshiftCPT2<3353608621CPT2896Exon 4
CPT2_0081c.921_923delp.Met307_Ser308delinsIlemt-matrix (Mitochondrial matrix)Uncertain Significance05/16/2023DeletionDeletionCPT2<30CPT2921Exon 4
CPT2_0082c.930C>Tp.Gly310=mt-matrix (Mitochondrial matrix)Uncertain Significance03/01/2023SNVSilentCPT2<3169962871CPT2930Exon 4
CPT2_0083c.969_970delp.Phe323Leufs*6mt-matrix (Mitochondrial matrix)Pathogenic03/01/2023DeletionFrameshiftCPT2<3286495381Cardiac arrest, Lost consciousness, Reyes-like syndromeCPT2969Exon 4
CPT2_0084c.977G>Ap.Cys326Tyrmt-matrix (Mitochondrial matrix)Uncertain Significance03/01/2023SNVMissenseCPT2<3219139031MyoglobinuriaCPT2977Exon 4
CPT2_0085c.983A>Gp.Asp328Glymt-matrix (Mitochondrial matrix)Pathogenic03/01/2023SNVMissenseCPT26-1012673791, 12840153, 14634971, 213783934Abnormal liver morphology, Arrhythmia, Gastrointestinal-other, Hypertrophic cardiomyopathy, Hypoglycemia, Hypoketotic hypoglycemia, Hyporeactivity, Hypotonia, Renal insufficiency/failureCPT2983Exon 4
CPT2_0086c.989dupp.Ile332Hisfs*2mt-matrix (Mitochondrial matrix)Pathogenic03/01/2023DuplicationFrameshiftCPT2<3353608621CPT2989Exon 4
CPT2_0087c.1048C>Tp.Arg350Cysmt-matrix (Mitochondrial matrix)Uncertain Significance05/16/2023SNVMissenseCPT2<30CPT21048Exon 4
CPT2_0088c.1054T>Cp.Phe352Leumt-matrix (Mitochondrial matrix)Likely Pathogenic03/01/2023SNVMissenseCPT2<3353608621CPT21054Exon 4
CPT2_0089c.1073T>Gp.Leu358Argmt-matrix (Mitochondrial matrix)Likely Pathogenic03/01/2023SNVMissenseCPT2<3346266091Apnoea, Hypoglycemia, Hypothermia, Lethargy, Poor feeding, Pulmonary/respiratoryCPT21073Exon 4
CPT2_0090c.1115_1116delinsTTp.His372LeuActive Site (Proton acceptor)Uncertain Significance05/16/2023DelinsMissenseCPT2<30CPT21115Exon 4
CPT2_0091c.1117T>Cp.Ser373Promt-matrix (Mitochondrial matrix)Likely Pathogenic03/01/2023SNVMissenseCPT23-5301498021Muscle weakness, Myopathy, RhabdomyolysisCPT21117Exon 4
CPT2_0092c.1121G>Ap.Trp374*mt-matrix (Mitochondrial matrix)Pathogenic03/01/2023SNVNonsenseCPT2<3288010731Gastrointestinal-otherCPT21121Exon 4
CPT2_0093c.1130G>Ap.Gly377Aspmt-matrix (Mitochondrial matrix)Likely Pathogenic03/01/2023SNVMissenseCPT2<320505667, 300073562Pain, RhabdomyolysisCPT21130Exon 4
CPT2_0094c.1145G>Ap.Arg382Lysmt-matrix (Mitochondrial matrix)Uncertain Significance03/01/2023SNVMissenseCPT2<3106074721CPT21145Exon 4
CPT2_0095c.1148T>Ap.Phe383Tyrmt-matrix (Mitochondrial matrix)Pathogenic03/01/2023SNVMissenseCPT230+12673791, 17709715, 18363739, 21227726, 22854105, 23700290, 25919294, 27363342, 28516040, 28649538, 28747690, 28801073, 29552494, 30514913, 31372341, 32489884, 34394177, 34539730, 8682496, 960045620Abnormal liver morphology, Abnormality of metabolism/homeostasis, Brain edema, Bulged anterior fontanelle, Cardiac arrest, Decreased liver function, Diffuse brain edema, Elevated circulating creatine kinase concentration, Encephalopathy, Fever, Gastrointestinal-other, Generalized tonic-clonic seizures, Hepatic failure, Hyperammonemia, Hypoglycemia, Hypoketotic hypoglycemia, Hypotonia, Lethargy, Loss of consciousness, Macrovesicular steatosis, Myalgia, Myoglobinuria, No voluntary movement of his limbs, Persistent hypertonic posture, Pulmonary/respiratory, Reye syndrome-like episodes, Rhabdomyolysis, Seizure, Severe neurological sequelae, Sudden death, Urine discolorationCPT21148Exon 4
CPT2_0096c.1171A>Gp.Ser391Glymt-matrix (Mitochondrial matrix)Uncertain Significance03/01/2023SNVMissenseCPT2<3294788201Myalgia, Renal insufficiency/failure, RhabdomyolysisCPT21171Exon 4
CPT2_0097c.1223_1224delp.Ser408Tyrfs*13mt-matrix (Mitochondrial matrix)Pathogenic03/01/2023DeletionFrameshiftCPT23-515754283, 183637392Malaise/fatigue, Myalgia, Pulmonary/respiratory, Renal insufficiency/failure, Rhabdomyolysis, Urine discolorationCPT21223Exon 4
CPT2_0098c.1234G>Tp.Val412Leumt-matrix (Mitochondrial matrix)Uncertain Significance03/01/2023SNVMissenseCPT2<3353422661CPT21234Exon 4
CPT2_0099c.1239G>Ap.Gln413=mt-matrix (Mitochondrial matrix)Uncertain Significance03/01/2023SNVSilentCPT2<3208100311Asthenia, Muscle stiffness, Myalgia, MyoglobinuriaCPT21239Exon 4
CPT2_0100c.1239_1240delp.Lys414Thrfs*7mt-matrix (Mitochondrial matrix)Pathogenic05/16/2023DeletionFrameshiftCPT230+10090476, 10398218, 11477613, 12362414, 12673791, 12707442, 14970749, 16996287, 18645163, 19335026, 21913903, 24602495, 28871440, 30455135, 30897730, 31428121, 31624327, 3292863918Abnormal liver morphology, Abnormal renal morphology, Abnormality of metabolism/homeostasis, Absence of corpus callosum, Amenorrhoeic, Brain calcifications, Cardiac-other, Exercise intolerance, Focal polymicrogyria in the brain, Hydrocephalus, Hypoglycemia, Hypospadias, Inability to move legs for several hours, Intracerebral periventricular calcifications, Lipid accumulation in the skeletal muscle, Macrocephaly, Mega cysterna magna, Micrognathia, Microvascular proliferative changes in the brain, Moderate bilateral ventriculomegaly, Muscle spasm, Muscle stiffness, Myalgia, Myoglobinuria, Oligohydramnios, Pain, Periventricular calcifications, Renal insufficiency/failure, Rhabdomyolysis, Suspected cerebral hemorrhage, Thin corpus callosum, Ventriculomegaly, Ventriculomegaly of the lateral ventriclesCPT21239Exon 4
CPT2_0101c.1273_1274delp.Thr425Trpfs*6mt-matrix (Mitochondrial matrix)Pathogenic03/01/2023DeletionFrameshiftCPT2<3169962871CPT21273Exon 4
CPT2_0102c.1301T>Cp.Phe434Sermt-matrix (Mitochondrial matrix)Uncertain Significance03/01/2023SNVMissenseCPT2<3353608621CPT21301Exon 4
CPT2_0103c.1342T>Cp.Phe448Leumt-matrix (Mitochondrial matrix)Uncertain Significance05/16/2023SNVMissenseCPT221-3010090476, 10398218, 12673791, 12707442, 19335026, 28871440, 31624327, 329286398Abnormal liver morphology, Abnormal renal morphology, Cardiac-other, Exercise intolerance, Focal polymicrogyria in the brain, Hypospadias, Lipid accumulation in the skeletal muscle, Micrognathia, Microvascular proliferative changes in the brain, Muscle spasm, Muscle stiffness, Myoglobinuria, Pain, Ventriculomegaly of the lateral ventriclesCPT21342Exon 4
CPT2_0104c.1345C>Ap.Gln449Lysmt-matrix (Mitochondrial matrix)Uncertain Significance03/01/2023SNVMissenseCPT2<328801073, 305149132HypoglycemiaCPT21345Exon 4
CPT2_0105c.1348A>Tp.Arg450*mt-matrix (Mitochondrial matrix)Pathogenic03/01/2023SNVNonsenseCPT2<320810031, 21913903, 315170613Asthenia, Muscle spasm, Muscle stiffness, Myalgia, MyoglobinuriaCPT21348Exon 4
CPT2_0106c.1369A>Tp.Lys457*CoA Binding SitePathogenic03/01/2023SNVNonsenseCPT23-516996287, 30094188, 33123633, 344495234Decreased feeding, Myalgia, VomitingCPT21369Exon 4
CPT2_0107c.1420G>Cp.Ala474Promt-matrix (Mitochondrial matrix)Uncertain Significance03/01/2023SNVMissenseCPT2<3294788201Myalgia, Renal insufficiency/failure, RhabdomyolysisCPT21420Exon 4
CPT2_0108c.1429C>Tp.Arg477Trpmt-matrix (Mitochondrial matrix)Uncertain Significance05/16/2023SNVMissenseCPT2<328801073, 29552494, 313723413CPT21429Exon 4
CPT2_0109c.1436A>Gp.Tyr479Cysmt-matrix (Mitochondrial matrix)Likely Pathogenic03/01/2023SNVMissenseCPT2<3189256711CPT21436Exon 4
CPT2_0110c.1438G>Ap.Gly480Argmt-matrix (Mitochondrial matrix)Uncertain Significance05/16/2023SNVMissenseCPT2<3169962871CPT21438Exon 4
CPT2_0111c.1444_1447delp.Thr482Trpfs*49mt-matrix (Mitochondrial matrix)Pathogenic03/01/2023DeletionFrameshiftCPT2<316996287, 331236332CPT21444Exon 4
CPT2_0112c.1459G>Ap.Glu487Lysmt-matrix (Mitochondrial matrix)Likely Pathogenic03/01/2023SNVMissenseCPT23-510868782, 30455135, 308977303Myalgia, Myoglobinuria, PigmenturiaCPT21459Exon 4
CPT2_0113c.1460A>Cp.Glu487Alamt-matrix (Mitochondrial matrix)Pathogenic05/16/2023SNVMissenseCPT2<30CPT21460Exon 4
CPT2_0114c.1489G>Ap.Gly497Sermt-matrix (Mitochondrial matrix)Pathogenic03/01/2023SNVMissenseCPT2<323911907, 308871172Muscle switching, Myalgia, MyoglobinuriaCPT21489Exon 4
CPT2_0115c.1493G>Tp.Arg498Leumt-matrix (Mitochondrial matrix)Uncertain Significance03/01/2023SNVMissenseCPT2<3317702511Anuria, Fever, Malaise/fatigue, Myalgia, Pulmonary/respiratory, Renal insufficiency/failure, Rhabdomyolysis, Urine discolorationCPT21493Exon 4
CPT2_0116c.1505T>Cp.Ile502Thrmt-matrix (Mitochondrial matrix)Pathogenic03/01/2023SNVMissenseCPT26-1010398215, 10862092, 309572553MyoglobinuriaCPT21505Exon 4
CPT2_0117c.1507C>Tp.Arg503Cysmt-matrix (Mitochondrial matrix)Pathogenic03/01/2023SNVMissenseCPT211-2010090476, 10398218, 10873395, 11001791, 17372854, 19762733, 21913903, 85157568Abnormal liver morphology, Cardiac-other, Cyanosis, Hepatic failure, Lethargy, Pulmonary/respiratoryCPT21507Exon 4
CPT2_0118c.1511C>Tp.Pro504Leumt-matrix (Mitochondrial matrix)Pathogenic05/16/2023SNVMissenseCPT211-2016996287, 17936304, 18306170, 18550408, 26537576, 28801073, 28871440, 30514913, 31638495, 3292863910CPT21511Exon 4
CPT2_0119c.1525A>Gp.Thr509Alamt-matrix (Mitochondrial matrix)Likely Benign03/01/2023SNVMissenseCPT2<328801073, 305149132CPT21525Exon 4
CPT2_0120c.1547T>Cp.Phe516Sermt-matrix (Mitochondrial matrix)Pathogenic03/01/2023SNVMissenseCPT2<320810031, 21913903, 352816633Asthenia, Contractures, Encephalopathy, Muscle spasm, Muscle weakness, Myalgia, Myoglobinuria, Pulmonary/respiratory, SeizureCPT21547Exon 4
CPT2_0121c.1569_1570delp.His523Glnfs*4mt-matrix (Mitochondrial matrix)Pathogenic03/01/2023DeletionFrameshiftCPT2<3169962871CPT21569Exon 4
CPT2_0122c.1579G>Ap.Glu527Lysmt-matrix (Mitochondrial matrix)Uncertain Significance03/01/2023SNVMissenseCPT2<3288010731Myalgia, RhabdomyolysisCPT21579Exon 4
CPT2_0123c.1634A>Cp.Glu545Alamt-matrix (Mitochondrial matrix)Conflict03/01/2023SNVMissenseCPT2<320952238, 28801073, 305149133CPT21634Exon 4
CPT2_0124c.1634_1636delp.Glu545delmt-matrix (Mitochondrial matrix)Uncertain Significance03/01/2023DeletionDeletionCPT2<3169962871CPT21634Exon 4
CPT2_0125c.1645+5G>AIntronicNot SpecifiedUncertain Significance03/01/2023SNVSplice regionCPT2<3169962871CPT21645Intron 4
CPT2_0126c.1645+20C>TIntronicNot SpecifiedUncertain Significance05/16/2023SNVIntronicCPT2<30CPT21645Intron 4
CPT2_0127c.1646-1G>TIntronicNot SpecifiedPathogenic03/01/2023SNVSplice acceptorCPT2<3309572551CPT21646Intron 4
CPT2_0128c.1646G>Ap.Gly549Aspmt-matrix (Mitochondrial matrix)Pathogenic03/01/2023SNVMissenseCPT23-510398218, 169962872CPT21646Exon 5
CPT2_0129c.1647_1650delp.Gln550Alafs*32mt-matrix (Mitochondrial matrix)Pathogenic03/01/2023DeletionFrameshiftCPT2<3246024951MyoglobinuriaCPT21647Exon 5
CPT2_0130c.1649A>Gp.Gln550Argmt-matrix (Mitochondrial matrix)Uncertain Significance03/01/2023SNVMissenseCPT2<397587121CPT21649Exon 5
CPT2_0131c.1657G>Ap.Asp553Asnmt-matrix (Mitochondrial matrix)Pathogenic03/01/2023SNVMissenseCPT2<317936304, 77117302MyoglobinuriaCPT21657Exon 5
CPT2_0132c.1660C>Tp.Arg554*mt-matrix (Mitochondrial matrix)Pathogenic03/01/2023SNVNonsenseCPT2<3179363041MyoglobinuriaCPT21660Exon 5
CPT2_0133c.1665C>Gp.His555Glnmt-matrix (Mitochondrial matrix)Uncertain Significance03/01/2023SNVMissenseCPT23-5297443031Lethargy, Muscle spasm, Muscle weakness, Myalgia, Urine discolorationCPT21665Exon 5
CPT2_0134c.1666_1667delp.Leu556Valfs*16mt-matrix (Mitochondrial matrix)Pathogenic03/01/2023DeletionFrameshiftCPT23-528871440, 29478820, 329286393Diarrhea, Muscle weakness, Myalgia, Renal insufficiency/failure, RhabdomyolysisCPT21666Exon 5
CPT2_0135c.1678C>Tp.Arg560Trpmt-matrix (Mitochondrial matrix)Likely Pathogenic03/01/2023SNVMissenseCPT23-5305149131RhabdomyolysisCPT21678Exon 5
CPT2_0136c.1679G>Ap.Arg560Glnmt-matrix (Mitochondrial matrix)Likely Pathogenic03/01/2023SNVMissenseCPT2<3169962871CPT21679Exon 5
CPT2_0137c.1711C>Ap.Pro571Thrmt-matrix (Mitochondrial matrix)Pathogenic03/01/2023SNVMissenseCPT23-528771436, 353608622CPT21711Exon 5
CPT2_0138c.1724T>Cp.Leu575Promt-matrix (Mitochondrial matrix)Likely Pathogenic03/01/2023SNVMissenseCPT2<320810031, 219139032Asthenia, Malaise/fatigue, Muscle weakness, Myoglobinuria, Pulmonary/respiratoryCPT21724Exon 5
CPT2_0139c.1727A>Gp.Asp576Glymt-matrix (Mitochondrial matrix)Likely Pathogenic03/01/2023SNVMissenseCPT2<3179363041MyoglobinuriaCPT21727Exon 5
CPT2_0140c.1737delp.Tyr579*mt-matrix (Mitochondrial matrix)Pathogenic03/01/2023DeletionFrameshiftCPT2<3185771131Abnormal liver morphology, Arrhythmia, Cardiac-other, Cyanosis, Intra-alveolar hemorrhage, Pleural effusionCPT21737Exon 5
CPT2_0141c.1749C>Ap.Asn583Lysmt-matrix (Mitochondrial matrix)Uncertain Significance03/01/2023SNVMissenseCPT2<3345397301CPT21749Exon 5
CPT2_0142c.1763C>Gp.Ser588Cysmt-matrix (Mitochondrial matrix)Likely Benign03/01/2023SNVMissenseCPT2<3169962871CPT21763Exon 5
CPT2_0143c.1784delp.Pro595Glnfs*3mt-matrix (Mitochondrial matrix)Pathogenic03/01/2023DeletionFrameshiftCPT23-518550408, 228990912Abnormal renal morphology, Developmental delay, Periventricular calcifications, Prominent lenticulostriate vascular markings, Rhabdomyolysis, VentriculomegalyCPT21784Exon 5
CPT2_0144c.1798G>Ap.Gly600Argmt-matrix (Mitochondrial matrix)Pathogenic05/16/2023SNVMissenseCPT23-5331236331CPT21798Exon 5
CPT2_0145c.1803delp.Phe602Leufs*20mt-matrix (Mitochondrial matrix)Pathogenic03/01/2023DeletionFrameshiftCPT2<3237002901Abnormal liver morphology, Abnormality of metabolism/homeostasis, Hepatic failure, HypoglycemiaCPT21803Exon 5
CPT2_0146c.1806delp.Phe602Leufs*20mt-matrix (Mitochondrial matrix)Pathogenic03/01/2023DeletionFrameshiftCPT23-5315990171Abnormal liver morphology, Abnormal renal morphology, Micrognathia, Oligohydramnios, Pulmonary/respiratoryCPT21806Exon 5
CPT2_0147c.1810C>Tp.Pro604Sermt-matrix (Mitochondrial matrix)Likely Pathogenic03/01/2023SNVMissenseCPT2<316996287, 97587122CPT21810Exon 5
CPT2_0148c.1813G>Cp.Val605Leumt-matrix (Mitochondrial matrix)Pathogenic03/01/2023SNVMissenseCPT26-1018306170, 18363739, 28649538, 28801073, 305149135Cardiac arrest, Encephalopathy, Hypoketotic hypoglycemia, Hypotonia, Loss of consciousness, Lost consciousness, Myoglobinuria, Reye syndrome-like episodes, Reyes-like syndrome, Rhabdomyolysis, SeizureCPT21813Exon 5
CPT2_0149c.1816_1817delp.Val606Leufs*2mt-matrix (Mitochondrial matrix)Pathogenic03/01/2023DeletionFrameshiftCPT2<3169962871CPT21816Exon 5
CPT2_0150c.1822G>Cp.Asp608Hismt-matrix (Mitochondrial matrix)Likely Pathogenic03/01/2023SNVMissenseCPT2<312673791, 205056672Pain, RhabdomyolysisCPT21822Exon 5
CPT2_0151c.1838G>Ap.Gly613Glumt-matrix (Mitochondrial matrix)Uncertain Significance03/01/2023SNVMissenseCPT2<3284688681Abnormal renal morphology, Hypertrophic cardiomyopathy, Hypoglycemia, IugrCPT21838Exon 5
CPT2_0152c.1858T>Cp.Trp620Argmt-matrix (Mitochondrial matrix)Uncertain Significance05/16/2023SNVMissenseCPT2<30CPT21858Exon 5
CPT2_0153c.1883A>Cp.Tyr628Sermt-matrix (Mitochondrial matrix)Pathogenic03/01/2023SNVMissenseCPT26-1010398215, 10734268, 12673791, 15613406, 1999498, 20661589, 21378393, 86512818Abnormal liver morphology, Abnormality of metabolism/homeostasis, Arrhythmia, Cardiac arrest, Cardiac-other, Duodenal stenosis, Gastrointestinal-other, Hypoketotic hypoglycemia, Jaundice, Lethargy, Myalgia, Myoglobinuria, Pulmonary/respiratory, Renal insufficiency/failure, Rhabdomyolysis, Seizure, Sudden deathCPT21883Exon 5
CPT2_0154c.1891C>Tp.Arg631Cysmt-matrix (Mitochondrial matrix)Pathogenic05/16/2023SNVMissenseCPT230+1528846, 15754283, 16996287, 17651973, 17936304, 18363739, 18645163, 20810031, 21913903, 28801073, 32463482, 35028265, 35372350, 3642228114Abnormal liver morphology, Cardiac-other, Cardiomyopathy, Coma, Dehydration, Dilated cardiomyopathy, Fever, Hypoglycemia, Hypoketotic hypoglycemia, Hypotonia, Lethargy, Malaise/fatigue, Muscle spasm, Muscle weakness, Myalgia, Myoglobinuria, Pain, Pulmonary/respiratory, Renal insufficiency/failure, Restlessness, Rhabdomyolysis, Seizure, Severe brain damage, Sweating, Urine discoloration, VomitingCPT21891Exon 5
CPT2_0155c.1892G>Ap.Arg631Hismt-matrix (Mitochondrial matrix)Likely Pathogenic03/01/2023SNVMissenseCPT2<3352563181Muscle weakness, Myalgia, RhabdomyolysisCPT21892Exon 5
CPT2_0156c.1925_1937delp.Lys642Thrfs*6mt-matrix (Mitochondrial matrix)Pathogenic03/01/2023DeletionFrameshiftCPT2<3185504081Abnormal liver morphology, Abnormal renal morphology, Abnormality of metabolism/homeostasis, Absence of corpus callosum, Cardiac-other, Intracerebral periventricular calcifications, Periventricular calcifications, Renal insufficiency/failure, VentriculomegalyCPT21925Exon 5
CPT2_0157c.1931T>Cp.Leu644Sermt-matrix (Mitochondrial matrix)Likely Pathogenic03/01/2023SNVMissenseCPT2<3212277261Cardiac arrestCPT21931Exon 5
CPT2_0158c.1932dupp.Glu645Argfs*5mt-matrix (Mitochondrial matrix)Pathogenic05/16/2023DuplicationFrameshiftCPT26-1017936304, 20810031, 219139033Myalgia, Myoglobinuria, SeizureCPT21932Exon 5
CPT2_0159c.1933G>Tp.Glu645*mt-matrix (Mitochondrial matrix)Pathogenic03/01/2023SNVNonsenseCPT2<3305149131RhabdomyolysisCPT21933Exon 5
CPT2_0160c.1964C>Ap.Ser655Tyrmt-matrix (Mitochondrial matrix)Uncertain Significance05/16/2023SNVMissenseCPT2<30CPT21964Exon 5
    Notes:
  • * All variants are referencing NM_000098.3 and there is no change between these versions with respect to the coding sequence.
  • * Genomic coordinates are calculated based on variant data provided: in some cases coordinates are estimated in order to allow users to sort the variants linearly, by approximation.
    Definition of acronyms:
  • "*": Referenced a stop codon insertion when listed under amino acid change.
  • ACMG: American College of Medical Genetics and Genomics
  • CNV: Copy number variant which here describes a change 100 DNA nucleotides or larger.
  • SNV: Single DNA nucleotide variant
  • del: Deletion
  • dup: Duplication
  • fs: Frameshift
  • ins: Insertion

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