MFN2, mitofusin 2, 9927

N. diseases: 334; N. variants: 75
Disease: Hereditary motor and sensory neuropathy with optic atrophy (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119103265
rs119103265
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0393807
Disease:
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		0.820 GeneticVariation BEFREE The patient is a Caucasian male with HMSN VI (type 2A Charcot-Marie-Tooth disease and associated optic atrophy) and a c.1090C→T (p.R364W) mutation in the mitofusin 2 (MFN2) gene. 21707411 2011
dbSNP: rs119103265
rs119103265
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0393807
Disease:
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		0.820 GeneticVariation BEFREE We identified two HMSN VI families with the R364W mutation in the early onset group; however, two other families with the same mutation did not have optic atrophy. 16835246 2006
dbSNP: rs119103265
rs119103265
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0393807
Disease:
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		T 0.820 CausalMutation CLINVAR
dbSNP: rs119103265
rs119103265
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0393807
Disease:
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		0.820 GeneticVariation UNIPROT
dbSNP: rs119103263
rs119103263
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0393807
Disease:
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		T 0.800 CausalMutation CLINVAR
dbSNP: rs119103263
rs119103263
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0393807
Disease:
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		0.800 GeneticVariation UNIPROT
dbSNP: rs119103264
rs119103264
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0393807
Disease:
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		G 0.800 CausalMutation CLINVAR
dbSNP: rs119103264
rs119103264
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0393807
Disease:
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		0.800 GeneticVariation UNIPROT
dbSNP: rs119103266
rs119103266
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0393807
Disease:
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		0.800 GeneticVariation UNIPROT
dbSNP: rs119103266
rs119103266
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0393807
Disease:
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		T 0.800 CausalMutation CLINVAR
dbSNP: rs28940291
rs28940291
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0393807
Disease:
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		0.700 GeneticVariation UNIPROT Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy. 26085578 2015
dbSNP: rs28940291
rs28940291
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0393807
Disease:
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		0.700 GeneticVariation UNIPROT Application of whole exome sequencing in undiagnosed inherited polyneuropathies. 24604904 2014
dbSNP: rs28940291
rs28940291
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0393807
Disease:
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		0.700 GeneticVariation UNIPROT MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families. 20350294 2010
dbSNP: rs28940291
rs28940291
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0393807
Disease:
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		0.700 GeneticVariation UNIPROT Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. 16437557 2006
dbSNP: rs1057517987
rs1057517987
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0393807
Disease:
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs119103267
rs119103267
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0393807
Disease:
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs119103268
rs119103268
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0393807
Disease:
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1553145402
rs1553145402
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0393807
Disease:
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		AG 0.700 GeneticVariation CLINVAR
dbSNP: rs28940292
rs28940292
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0393807
Disease:
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		C 0.700 CausalMutation CLINVAR
dbSNP: rs864622480
rs864622480
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0393807
Disease:
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		G 0.700 GeneticVariation CLINVAR