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
42 43 179 81 30 328

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Charcot-Marie-Tooth disease, type 2 21 15 117 47 18 206
not provided 15 16 61 4 5 99
not specified 1 0 16 42 24 81
Hereditary motor and sensory neuropathy 0 0 35 32 2 69
Charcot-Marie-Tooth disease, type 2A2A 22 8 0 0 0 30
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B 5 5 1 0 0 9
Hereditary motor and sensory neuropathy with optic atrophy 5 2 0 0 0 7
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 1 1 1 0 0 3
Charcot-Marie-Tooth disease 1 0 0 0 0 1
Distal muscle weakness; Peripheral axonal neuropathy; Distal lower limb amyotrophy 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: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 21 15 84 16 16 152
GeneDx 12 15 40 38 23 128
Illumina Clinical Services Laboratory,Illumina 1 0 36 33 2 72
Athena Diagnostics Inc 10 4 18 4 4 40
OMIM 20 0 0 0 0 20
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 5 0 9 3 2 19
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 15 3 0 18
PreventionGenetics 0 0 0 1 6 7
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 4 3 0 0 0 7
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 2 0 2 5
Institute of Human Genetics,Cologne University 2 2 0 0 0 4
Ambry Genetics 1 1 1 0 0 3
Fulgent Genetics 3 0 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
Baylor Miraca Genetics Laboratories, 1 0 0 0 0 1
Mendelics 1 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 0 1 0 0 0 1
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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