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
139 132 697 356 108 1 5 1236

Condition and significance breakdown #

Total conditions: 37
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Condition pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance not provided total
Charcot-Marie-Tooth disease type 2 115 63 449 292 57 1 0 964
not provided 29 32 145 64 54 0 0 291
Charcot-Marie-Tooth disease 7 5 173 35 11 0 0 225
Inborn genetic diseases 8 4 76 38 0 0 0 126
Hereditary motor and sensory neuropathy with optic atrophy 6 4 38 11 43 0 0 102
not specified 2 0 21 38 27 0 0 83
Charcot-Marie-Tooth disease type 2A2 30 26 21 1 1 0 0 75
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; 11 10 7 0 0 0 0 24
MFN2-related condition 3 1 4 13 1 0 0 22
Hereditary motor and sensory neuropathy 0 0 8 3 0 0 0 11
Neuropathy, hereditary motor and sensory, type 6A 6 0 5 0 0 0 0 11
Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;; Neuropathy, hereditary motor and sensory, type 6A 1 0 1 4 1 0 0 7
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
Peripheral neuropathy 1 1 2 0 0 0 0 4
Charcot-Marie-Tooth disease type 4 0 0 3 0 0 0 0 3
MFN2-Related Disorders 2 1 0 0 0 0 0 3
Tip-toe gait 0 3 0 0 0 0 0 3
Charcot-Marie-Tooth disease type 2A2; Neuropathy, hereditary motor and sensory, type 6A 0 0 2 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: 83
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance not provided total
Invitae 115 63 408 280 36 1 0 903
GeneDx 14 20 73 71 59 0 0 237
Inherited Neuropathy Consortium 3 3 128 2 0 0 0 136
Ambry Genetics 8 4 76 38 0 0 0 126
Illumina Laboratory Services, Illumina 2 0 47 23 44 0 0 102
Athena Diagnostics Inc 13 7 46 6 11 0 0 83
Molecular Genetics Laboratory, London Health Sciences Centre 5 3 30 33 11 0 0 82
CeGaT Center for Human Genetics Tuebingen 14 5 38 15 3 0 0 75
PreventionGenetics, part of Exact Sciences 3 1 4 14 7 0 0 29
Genesis Genome Database 0 0 25 0 0 0 0 25
OMIM 23 0 0 0 0 0 0 23
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 3 0 5 6 9 0 0 23
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
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 1 13 0 0 0 15
Mendelics 2 5 4 1 1 0 0 13
Mayo Clinic Laboratories, Mayo Clinic 2 2 9 0 0 0 0 13
Baylor Genetics 4 1 7 0 0 0 0 12
3billion 7 2 1 0 0 0 0 10
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
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 3 2 4 0 0 0 0 9
Revvity Omics, Revvity 3 2 3 0 0 0 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 4 1 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, University of Leipzig Medical Center 2 3 1 0 0 0 0 6
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
CMT Laboratory, Bogazici University 3 1 0 0 0 0 0 4
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 2 2 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
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
Kariminejad - Najmabadi Pathology & Genetics Center 1 1 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 0 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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 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
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
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
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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 0 1 0 0 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 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
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 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
Coban-Akdemir Lab, University of Texas Health Science Center 0 0 1 0 0 0 0 1

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