|
rs119103267
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissue.
|
30158064 |
2019 |
|
rs119103267
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Catalogue of inherited disorders found among the Irish Traveller population.
|
29358271 |
2018 |
|
rs119103267
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression.
|
28414270 |
2017 |
|
rs119103267
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Genetic heterogeneity of motor neuropathies.
|
28251916 |
2017 |
|
rs119103267
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.
|
26085578 |
2015 |
|
rs119103267
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
MFN2 deletion of exons 7 and 8: founder mutation in the UK population.
|
26114802 |
2015 |
|
rs119103267
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.
|
25025039 |
2014 |
|
rs119103267
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
T |
0.800 |
GeneticVariation
|
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 |
|
rs119103267
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
MFN2 mutations cause compensatory mitochondrial DNA proliferation.
|
22492563 |
2012 |
|
rs119103267
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families.
|
20350294 |
2010 |
|
rs119103267
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations.
|
20008656 |
2009 |
|
rs119103267
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations.
|
18458227 |
2008 |
|
rs119103267
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
T |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs28940292
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
|
26257172 |
2015 |
|
rs28940292
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
|
15064763 |
2004 |
|
rs28940294
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
A |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs119103265
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs119103268
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs1266361856
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs1557522849
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs369140232
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs763492075
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
|
26257172 |
2015 |
|
rs794729198
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.
|
26378787 |
2016 |
|
rs794729198
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan.
|
21326314 |
2011 |
|
rs879253777
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.
|
26378787 |
2016 |