rs121909091
|
Entrez Id: |
1785 |
Gene Symbol: |
DNM2 |
DNM2
|
Myopathy, Centronuclear, 1
|
T |
0.800 |
CausalMutation |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
rs397514735
|
Entrez Id: |
1785 |
Gene Symbol: |
DNM2 |
DNM2
|
LETHAL CONGENITAL CONTRACTURE SYNDROME 5
|
|
0.800 |
GeneticVariation |
UNIPROT |
Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome.
|
23092955 |
2013 |
rs121909089
|
Entrez Id: |
1785 |
Gene Symbol: |
DNM2 |
DNM2
|
Myopathy, Centronuclear, 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical utility gene card for: Centronuclear and myotubular myopathies.
|
22617344 |
2012 |
rs121909089
|
Entrez Id: |
1785 |
Gene Symbol: |
DNM2 |
DNM2
|
Myopathy, Centronuclear, 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
|
22396310 |
2012 |
rs121909090
|
Entrez Id: |
1785 |
Gene Symbol: |
DNM2 |
DNM2
|
Myopathy, Centronuclear, 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical utility gene card for: Centronuclear and myotubular myopathies.
|
22617344 |
2012 |
rs121909090
|
Entrez Id: |
1785 |
Gene Symbol: |
DNM2 |
DNM2
|
Myopathy, Centronuclear, 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
|
22396310 |
2012 |
rs121909091
|
Entrez Id: |
1785 |
Gene Symbol: |
DNM2 |
DNM2
|
Myopathy, Centronuclear, 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical utility gene card for: Centronuclear and myotubular myopathies.
|
22617344 |
2012 |
rs121909091
|
Entrez Id: |
1785 |
Gene Symbol: |
DNM2 |
DNM2
|
Myopathy, Centronuclear, 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
|
22396310 |
2012 |
rs121909092
|
Entrez Id: |
1785 |
Gene Symbol: |
DNM2 |
DNM2
|
Myopathy, Centronuclear, 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical utility gene card for: Centronuclear and myotubular myopathies.
|
22617344 |
2012 |
rs121909092
|
Entrez Id: |
1785 |
Gene Symbol: |
DNM2 |
DNM2
|
Myopathy, Centronuclear, 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
|
22396310 |
2012 |
rs121909095
|
Entrez Id: |
1785 |
Gene Symbol: |
DNM2 |
DNM2
|
Myopathy, Centronuclear, 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
|
22396310 |
2012 |
rs121909095
|
Entrez Id: |
1785 |
Gene Symbol: |
DNM2 |
DNM2
|
Myopathy, Centronuclear, 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical utility gene card for: Centronuclear and myotubular myopathies.
|
22617344 |
2012 |
rs587783595
|
Entrez Id: |
1785 |
Gene Symbol: |
DNM2 |
DNM2
|
Myopathy, Centronuclear, 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
|
22396310 |
2012 |
rs587783595
|
Entrez Id: |
1785 |
Gene Symbol: |
DNM2 |
DNM2
|
Myopathy, Centronuclear, 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical utility gene card for: Centronuclear and myotubular myopathies.
|
22617344 |
2012 |
rs587783595
|
Entrez Id: |
1785 |
Gene Symbol: |
DNM2 |
DNM2
|
Myopathy, Centronuclear, 1
|
A |
0.800 |
CausalMutation |
CLINVAR |
Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy.
|
22096584 |
2011 |
rs121909089
|
Entrez Id: |
1785 |
Gene Symbol: |
DNM2 |
DNM2
|
Myopathy, Centronuclear, 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.
|
20227276 |
2010 |
rs121909089
|
Entrez Id: |
1785 |
Gene Symbol: |
DNM2 |
DNM2
|
Myopathy, Centronuclear, 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation.
|
19932620 |
2010 |
rs121909089
|
Entrez Id: |
1785 |
Gene Symbol: |
DNM2 |
DNM2
|
Myopathy, Centronuclear, 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset.
|
19932619 |
2010 |
rs121909090
|
Entrez Id: |
1785 |
Gene Symbol: |
DNM2 |
DNM2
|
Myopathy, Centronuclear, 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation.
|
19932620 |
2010 |
rs121909090
|
Entrez Id: |
1785 |
Gene Symbol: |
DNM2 |
DNM2
|
Myopathy, Centronuclear, 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset.
|
19932619 |
2010 |
rs121909090
|
Entrez Id: |
1785 |
Gene Symbol: |
DNM2 |
DNM2
|
Myopathy, Centronuclear, 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.
|
20227276 |
2010 |
rs121909091
|
Entrez Id: |
1785 |
Gene Symbol: |
DNM2 |
DNM2
|
Myopathy, Centronuclear, 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation.
|
19932620 |
2010 |
rs121909091
|
Entrez Id: |
1785 |
Gene Symbol: |
DNM2 |
DNM2
|
Myopathy, Centronuclear, 1
|
T |
0.800 |
CausalMutation |
CLINVAR |
Dynamin 2 mutants linked to centronuclear myopathies form abnormally stable polymers.
|
20529869 |
2010 |
rs121909091
|
Entrez Id: |
1785 |
Gene Symbol: |
DNM2 |
DNM2
|
Myopathy, Centronuclear, 1
|
T |
0.800 |
CausalMutation |
CLINVAR |
A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice.
|
20858595 |
2010 |
rs121909091
|
Entrez Id: |
1785 |
Gene Symbol: |
DNM2 |
DNM2
|
Myopathy, Centronuclear, 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.
|
20227276 |
2010 |