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 total
52 51 339 113 49 518

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Charcot-Marie-Tooth disease, type 2 31 14 144 38 2 228
not provided 15 17 69 51 39 178
Charcot-Marie-Tooth disease 4 2 149 2 0 155
not specified 2 0 17 41 25 82
Hereditary motor and sensory neuropathy 0 0 35 32 2 69
Charcot-Marie-Tooth disease, type 2A2A 22 14 4 1 0 39
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B 5 6 1 0 0 10
Hereditary motor and sensory neuropathy with optic atrophy 5 3 0 0 0 8
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
Charcot-Marie-Tooth disease type 4 0 0 3 0 0 3
Inborn genetic diseases 1 1 1 0 0 3
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
Genetic 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: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 31 14 111 47 25 228
GeneDx 12 16 40 46 36 150
Inherited Neuropathy Consortium 3 3 129 2 0 137
Illumina Clinical Services Laboratory,Illumina 1 0 36 33 2 72
Athena Diagnostics Inc 10 4 22 4 8 48
Genesis Genome Database 0 0 26 0 0 26
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 20 3 0 23
OMIM 20 0 0 0 0 20
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 5 0 9 3 2 19
Mendelics 1 5 4 1 0 11
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 0 2 1 3 8
PreventionGenetics,PreventionGenetics 0 0 0 1 6 7
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 4 3 0 0 0 7
Institute of Human Genetics,Cologne University 2 2 0 0 0 4
Ambry Genetics 1 1 1 0 0 3
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 0 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 1 1 0 0 0 2
Baylor Genetics 1 0 0 0 0 1
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 0 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
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: 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

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