Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119103267
rs119103267
MFN2
T 0.700 CausalMutation CLINVAR Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression. 28414270

2017
dbSNP: rs119103267
rs119103267
MFN2
T 0.700 CausalMutation CLINVAR Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy. 26085578

2015
dbSNP: rs119103267
rs119103267
MFN2
T 0.700 CausalMutation CLINVAR MFN2 deletion of exons 7 and 8: founder mutation in the UK population. 26114802

2015
dbSNP: rs119103267
rs119103267
MFN2
T 0.700 CausalMutation CLINVAR Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing. 25025039

2014
dbSNP: rs119103267
rs119103267
MFN2
T 0.700 CausalMutation CLINVAR Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients. 24126688

2013
dbSNP: rs119103267
rs119103267
MFN2
T 0.700 CausalMutation CLINVAR MFN2 mutations cause compensatory mitochondrial DNA proliferation. 22492563

2012
dbSNP: rs119103267
rs119103267
MFN2
T 0.700 CausalMutation CLINVAR MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families. 20350294

2010
dbSNP: rs119103267
rs119103267
MFN2
T 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. 20008656

2009
dbSNP: rs119103267
rs119103267
MFN2
T 0.700 CausalMutation CLINVAR Giant cell tumor of soft parts. An ultrastructural study. 184582

1976