ClinVar Miner

Variants in gene CPT2

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Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
71 71 215 115 21 1 1 2 429

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
Carnitine palmitoyltransferase II deficiency 60 12 177 91 16 0 0 1 326
Carnitine palmitoyltransferase II deficiency, infantile 9 51 28 0 2 0 0 0 86
not provided 11 3 31 25 5 0 1 0 72
not specified 0 0 8 17 11 0 0 0 36
Carnitine palmitoyltransferase II deficiency, lethal neonatal 7 22 0 0 0 0 0 1 30
Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced 10 20 0 0 0 0 0 0 29
Carnitine palmitoyltransferase II deficiency, infantile; Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced; Carnitine palmitoyltransferase II deficiency, lethal neonatal; Encephalopathy, acute, infection-induced, 4, susceptibility to 4 2 6 0 0 0 0 0 12
Carnitine palmitoyltransferase II deficiency, infantile; Carnitine palmitoyltransferase II deficiency, lethal neonatal 4 1 0 0 2 0 0 0 7
Encephalopathy, acute, infection-induced, 4, susceptibility to 0 0 1 0 0 1 0 0 2
Genu valgum; Pes planus; Hyperextensibility of the finger joints; Generalized hypotonia; Myopathic facies; Hyperextensible hand joints; Hyperextensibility at elbow 0 1 1 0 0 0 0 0 2
none provided 0 0 0 0 2 0 0 0 2
Inborn genetic diseases 1 0 0 0 0 0 0 0 1
Microcephaly 0 0 1 0 0 0 0 0 1
Myopathy; Nephropathy; Rhabdomyolysis 0 0 1 0 0 0 0 0 1
Pancytopenia; Arthritis; Dysautonomia; Gastrointestinal dysmotility; Polyarticular arthritis; Sinus tachycardia; Chronic pain; Inappropriate sinus tachycardia 1 0 0 0 0 0 0 0 1
Rhabdomyolysis 0 1 0 0 0 0 0 0 1
Seizures; Abnormality of the nervous system 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
Invitae 51 9 128 99 13 0 0 0 300
Counsyl 1 51 20 0 0 0 0 0 72
Natera, Inc. 7 2 39 6 7 0 0 0 61
Illumina Clinical Services Laboratory,Illumina 3 0 44 6 5 0 0 0 58
GeneDx 9 2 7 18 9 0 0 0 45
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 5 0 17 2 6 0 1 0 31
GeneReviews 19 0 1 0 3 0 0 0 23
OMIM 17 0 0 0 0 1 0 0 18
Integrated Genetics/Laboratory Corporation of America 9 2 3 0 3 0 0 0 17
Athena Diagnostics Inc 1 0 7 1 4 0 0 0 13
Fulgent Genetics,Fulgent Genetics 4 2 6 0 0 0 0 0 12
Baylor Genetics 5 1 4 0 0 0 0 0 10
CeGaT Praxis fuer Humangenetik Tuebingen 4 1 2 0 0 0 0 0 7
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 1 3 0 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 2 0 2 0 1 0 0 0 5
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 2 0 0 0 0 0 4
Gharavi Laboratory,Columbia University 0 0 4 0 0 0 0 0 4
Mendelics 1 0 0 0 2 0 0 0 3
Myriad Women's Health, Inc. 3 0 0 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 1 0 0 0 0 0 2
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 0 2 0 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 0 0 2
Phosphorus, Inc. 0 0 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 0 2 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 1 0 0 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 1 1 0 0 0 0 0 0 2
Pars Genome Lab 1 0 1 0 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 0 0 1
Ambry Genetics 1 0 0 0 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 0 0 1
Yale Center for Mendelian Genomics,Yale University 0 1 0 0 0 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 0 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 1 0 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 0 0 1

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