MFN2 Chromosome 1

Mitofusin 2
229 variants 229 Health Risk

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What This Gene Does
This gene encodes a mitochondrial membrane protein that participates in mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network. This protein is involved in the regulation of vascular smooth muscle cell proliferation, and it may play a role in the pathophysiology of obesity. Mutations in this gene cause Charcot-Marie-Tooth disease type 2A2, and hereditary motor and sensory neuropathy VI, which are both disorders of the peripheral nervous system. Defects in this gene have also been associated with early-onset stroke. Two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Mitofusin family
Locus Type
gene with protein product
Location
1p36.22
Ensembl
ENSG00000116688
Associated Conditions (38)
Charcot-Marie-Tooth disease type 2
Hereditary motor and sensory neuropathy with optic atrophy
Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease
axonal
autosomal recessive
type 2a2b
Multiple symmetric lipomatosis
Neuropathy
hereditary motor and sensory
type 6A
Inborn genetic diseases
Optic atrophy
Tip-toe gait
Retinal dystrophy
MFN2-related disorder
Hepatocellular carcinoma
Charcot-Marie-Tooth disease type 4
Autosomal dominant and autosomal recessive MFN2-related disorders
Hereditary ataxia
+18 more conditions
Key Variants
RS1040702840
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2
Health Risk
RS1057520619
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS1060501917
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2
Health Risk
RS1064794571
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, axonal
Health Risk
RS1064797107
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS111723244
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2A2
Health Risk
RS1131691782
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS119103264
Conflicting classifications of pathogenicity
Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2A2, Inborn genetic diseases
Health Risk
RS1205882839
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2
Health Risk
RS137960129
Conflicting classifications of pathogenicity
Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
Health Risk
RS138072432
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2
Health Risk
RS138345244
Conflicting classifications of pathogenicity
Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
Health Risk
All Variants (229)
RSID Category Clinical Significance Conditions
RS1040702840 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2
RS1057520619 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1060501917 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2
RS1064794571 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, axonal
RS1064797107 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS111723244 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2A2
RS1131691782 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS119103264 Health Risk Conflicting classifications of pathogenicity Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2A2, Inborn genetic diseases
RS1205882839 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2
RS137960129 Health Risk Conflicting classifications of pathogenicity Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS138072432 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2
RS138345244 Health Risk Conflicting classifications of pathogenicity Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS138382758 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2A2, Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease
RS139827903 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS140234726 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, Inborn genetic diseases
RS140924661 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, Inborn genetic diseases
RS141468012 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease
RS141974160 Health Risk Conflicting classifications of pathogenicity Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2, MFN2-related disorder
RS144860227 Health Risk Conflicting classifications of pathogenicity Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS145654854 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, Inborn genetic diseases
RS145994616 Health Risk Conflicting classifications of pathogenicity Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS147136530 Health Risk Conflicting classifications of pathogenicity Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS1478175861 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, axonal, autosomal recessive
RS148441213 Health Risk Conflicting classifications of pathogenicity Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS1553141680 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1553141706 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
RS1553141707 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
RS1553144066 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
RS1553145409 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1553146551 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1557515779 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A2
RS1557519001 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS1557521949 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS1569815882 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS1569816262 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS1569829573 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, axonal, autosomal recessive
RS1569842627 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS1569842685 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1569842714 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS1569854381 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease
RS1638734576 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1639045962 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2
RS1639171700 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A2
RS1639390139 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2
RS190961216 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS200441797 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2
RS201715603 Health Risk Conflicting classifications of pathogenicity Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS2100802936 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2
RS2100858186 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2
RS2523010703 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
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