ClinVar Miner

Variants in gene MFN2

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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 pathogenic, low penetrance not provided total
152 147 752 386 108 1 5 1330

Condition and significance breakdown #

Total conditions: 39
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Condition pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance not provided total
Charcot-Marie-Tooth disease type 2 126 64 488 321 57 1 0 1043
not provided 31 37 173 71 64 0 0 340
Charcot-Marie-Tooth disease 7 5 173 35 11 0 0 225
Inborn genetic diseases 9 4 86 39 0 0 0 138
Hereditary motor and sensory neuropathy with optic atrophy 6 4 38 11 43 0 0 102
not specified 2 0 25 41 27 0 0 90
Charcot-Marie-Tooth disease type 2A2 31 34 27 1 1 0 0 87
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; 14 11 10 0 0 0 0 31
MFN2-related disorder 4 2 5 14 1 0 0 26
Neuropathy, hereditary motor and sensory, type 6A 7 1 8 0 0 0 0 16
Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;; Neuropathy, hereditary motor and sensory, type 6A 1 3 3 4 1 0 0 12
Hereditary motor and sensory neuropathy 0 0 8 3 0 0 0 11
Charcot-Marie-Tooth disease type 2A2; Hereditary motor and sensory neuropathy with optic atrophy; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; 2 0 0 0 0 0 2 4
Charcot-Marie-Tooth disease type 2A2; Neuropathy, hereditary motor and sensory, type 6A 1 0 3 0 0 0 0 4
Optic atrophy 0 0 4 0 0 0 0 4
Charcot-Marie-Tooth disease type 4 0 0 3 0 0 0 0 3
Peripheral neuropathy 0 1 2 0 0 0 0 3
Retinal dystrophy 0 0 3 0 0 0 0 3
Tip-toe gait 0 3 0 0 0 0 0 3
Charcot-Marie-Tooth disease type 2A2; Multiple symmetric lipomatosis; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;; Neuropathy, hereditary motor and sensory, type 6A 1 1 0 0 0 0 0 2
LIPOMATOSIS, MULTIPLE SYMMETRIC, WITH AXONAL PERIPHERAL NEUROPATHY 2 0 0 0 0 0 0 2
Auditory neuropathy 0 1 0 0 0 0 0 1
Cerebellar ataxia 0 1 0 0 0 0 0 1
Cerebral palsy 0 1 0 0 0 0 0 1
Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth disease type 2A1; Charcot-Marie-Tooth disease, type 2A; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;; Neuropathy, hereditary motor and sensory, type 6A 0 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; 0 1 0 0 0 0 1 1
Charcot-Marie-Tooth disease, type 2A 0 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease, type I 0 0 1 0 0 0 0 1
Distal muscle weakness; Peripheral axonal neuropathy; Distal lower limb amyotrophy 0 1 0 0 0 0 0 1
Global developmental delay 0 0 1 0 0 0 0 1
Hereditary motor and sensory neuropathy with optic atrophy; Charcot-Marie-Tooth disease, type 2A 0 0 0 0 0 0 1 1
Hereditary motor neuron disease 0 1 0 0 0 0 0 1
Multiple symmetric lipomatosis 1 0 0 0 0 0 0 1
Multiple symmetric lipomatosis; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; 0 0 1 0 0 0 0 1
Multiple system atrophy, cerebellar type 0 1 0 0 0 0 0 1
Peripheral axonal neuropathy 1 0 0 0 0 0 0 1
See cases 0 0 1 0 0 0 0 1
Severe early-onset axonal neuropathy due to MFN2 deficiency 1 0 0 0 0 0 0 1
Short stature; Failure to thrive; Abnormality of the dentition; Microcephaly; Abnormal dental enamel morphology; Hyperpigmentation of the skin; Alopecia of scalp; Distal muscle weakness; EMG abnormality; Decreased body weight; Scarring alopecia of scalp; Abnormal blistering of the skin; Nail dystrophy; Scarring 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 97
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance not provided total
Labcorp Genetics (formerly Invitae), Labcorp 126 64 447 309 36 1 0 983
GeneDx 15 23 99 71 59 0 0 267
Ambry Genetics 9 4 86 39 0 0 0 138
Inherited Neuropathy Consortium 3 3 128 2 0 0 0 136
Illumina Laboratory Services, Illumina 2 0 46 23 44 0 0 101
Athena Diagnostics 14 9 47 8 13 0 0 91
Molecular Genetics Laboratory, London Health Sciences Centre 5 3 30 33 11 0 0 82
CeGaT Center for Human Genetics Tuebingen 14 6 39 19 2 0 0 80
Breakthrough Genomics, Breakthrough Genomics 0 1 3 11 29 0 0 44
PreventionGenetics, part of Exact Sciences 3 1 5 15 7 0 0 31
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 3 1 9 7 10 0 0 30
Genesis Genome Database 0 0 25 0 0 0 0 25
OMIM 23 0 0 0 0 0 0 23
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 2 10 4 0 0 0 19
Eurofins Ntd Llc (ga) 5 0 8 3 2 0 0 18
Clinical Genetics, Academic Medical Center 2 0 1 5 9 0 0 17
Mayo Clinic Laboratories, Mayo Clinic 2 2 12 0 0 0 0 16
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 1 13 0 0 0 15
Baylor Genetics 5 1 8 0 0 0 0 14
Mendelics 2 5 4 1 1 0 0 13
Neuberg Centre For Genomic Medicine, NCGM 3 3 6 0 0 0 0 12
3billion 7 1 3 0 0 0 0 11
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo 8 2 0 0 0 0 0 10
Fulgent Genetics, Fulgent Genetics 3 0 1 4 1 0 0 9
Kariminejad - Najmabadi Pathology & Genetics Center 2 5 2 0 0 0 0 9
Revvity Omics, Revvity 3 2 3 0 0 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 2 1 0 0 0 0 7
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 4 3 0 0 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 2 3 0 0 0 0 7
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 0 6 0 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 2 3 1 0 0 0 0 6
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 3 2 0 0 0 0 0 5
Institute of Human Genetics, Cologne University 2 2 0 0 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 1 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 3 0 0 0 0 0 4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 2 1 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 3 0 1 0 0 0 0 4
CMT Laboratory, Bogazici University 3 1 0 0 0 0 0 4
Solve-RD Consortium 0 4 0 0 0 0 0 4
MGZ Medical Genetics Center 1 1 1 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 1 0 0 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 2 0 0 0 1 0 0 3
SIB Swiss Institute of Bioinformatics 0 2 1 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 3 0 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 3 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 1 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 1 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 0 0 0 0 0 2
Northcott Neuroscience Laboratory, ANZAC Research Institute 2 0 0 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 0 0 2 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 2 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 1 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 1 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 0 1
Laboratory of Applied Genomics, Kongju National University 1 0 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 0 0 1
Human Genetics Unit, University Of Colombo 0 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 0 1
Neurogenetics Research Program, University of Adelaide 0 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 0 1
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 0 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust 1 0 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 0 0 0 0 1
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 0 1 0 0 0 0 0 1
Genome Medicine, Institute for Basic Research in Developmental Disabilities 0 1 0 0 0 0 0 1
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico 1 0 0 0 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 1 0 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 0 1 0 0 0 0 1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 0 1 0 0 0 0 0 1
Genome-Nilou Lab 1 0 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 0 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 0 1
Inherited Neuropathy Consortium Ii, University Of Miami 1 0 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 0 1
Coban-Akdemir Lab, University of Texas Health Science Center 0 0 1 0 0 0 0 1
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 1 0 0 0 0 0 0 1

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