ClinVar Miner

Variants in gene MFN2

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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 total
76 72 468 134 76 693

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Charcot-Marie-Tooth disease, type 2 54 25 264 56 48 435
Charcot-Marie-Tooth disease 7 5 174 36 11 227
not provided 21 22 80 41 22 177
Hereditary motor and sensory neuropathy with optic atrophy 5 4 45 11 43 108
not specified 2 0 17 41 25 82
Charcot-Marie-Tooth disease, type 2A2A 23 16 10 1 0 47
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B 5 7 3 0 0 13
Hereditary motor and sensory neuropathy 0 0 8 3 0 11
none provided 0 0 2 3 5 10
Charcot-Marie-Tooth disease, type 2A2A; Hereditary motor and sensory neuropathy with optic atrophy; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B 3 0 1 0 0 4
Inborn genetic diseases 2 1 1 0 0 4
Charcot-Marie-Tooth disease type 4 0 0 3 0 0 3
Cerebellar ataxia 0 1 0 0 0 1
Charcot-Marie-Tooth disease, type I 0 0 1 0 0 1
Distal muscle weakness; Peripheral axonal neuropathy; Distal lower limb amyotrophy 0 1 0 0 0 1
Hereditary motor neuron disease 0 1 0 0 0 1
MFN2-Related Disorders 1 0 0 0 0 1
See cases 0 0 1 0 0 1
Short stature; Failure to thrive; Abnormality of the dentition; Microcephaly; Abnormality of dental enamel; 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 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 54 25 215 61 25 380
GeneDx 12 16 40 46 36 150
Inherited Neuropathy Consortium 3 3 129 2 0 137
Illumina Clinical Services Laboratory,Illumina 1 0 54 23 44 108
Molecular Genetics Laboratory,London Health Sciences Centre 5 3 30 34 11 83
Athena Diagnostics Inc 10 5 27 4 9 55
CeGaT Praxis fuer Humangenetik Tuebingen 8 3 25 6 0 42
Genesis Genome Database 0 0 26 0 0 26
OMIM 20 0 0 0 0 20
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 3 0 5 5 7 20
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 5 0 9 3 2 19
Mendelics 1 5 4 1 0 11
Baylor Genetics 3 0 4 0 0 7
PreventionGenetics, PreventionGenetics 0 0 0 1 6 7
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 4 3 0 0 0 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 2 3 0 0 7
Ambry Genetics 2 1 1 0 0 4
Institute of Human Genetics,Cologne University 2 2 0 0 0 4
CMT Laboratory,Bogazici University 3 1 0 0 0 4
Fulgent Genetics,Fulgent Genetics 3 0 0 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 1 2 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 3 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 2 1 0 0 3
Northcott Neuroscience Laboratory, ANZAC Research Institute 2 0 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 0 1 2
Kariminejad - Najmabadi Pathology & Genetics Center 1 1 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Institute of Human Genetics, Uniklinik RWTH Aachen 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 0 0 1
Human Genetics Unit,University of Colombo 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Department Of Genetics,Lifeline Super Speciality Hospital, Adoor. 0 0 1 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 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 1
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 0 1 0 0 0 1
Genome Medicine,Institute for Basic Research in Developmental Disabilities 0 1 0 0 0 1
Istituto Neurologico Mediterraneo,Istituto di Ricovero e Cura a Carattere Scientifico 1 0 0 0 0 1
Section for Clinical Neurogenetics,University of Tübingen 0 0 1 0 0 1

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