DNM2, dynamin 2, 1785

N. diseases: 178; N. variants: 30
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909092
rs121909092
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C1847902
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		A 0.700 CausalMutation CLINVAR Dynamin-2 mutations associated with centronuclear myopathy are hypermorphic and lead to T-tubule fragmentation. 26199319 2015
dbSNP: rs121909092
rs121909092
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C1847902
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		A 0.700 CausalMutation CLINVAR DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy. 26273216 2015
dbSNP: rs121909092
rs121909092
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C1847902
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		A 0.700 CausalMutation CLINVAR Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort. 25957634 2015
dbSNP: rs121909092
rs121909092
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C1847902
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		A 0.700 CausalMutation CLINVAR Clinical, pathological, and genetic features of dynamin-2-related centronuclear myopathy in China. 25501959 2015
dbSNP: rs121909092
rs121909092
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C1847902
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		A 0.700 CausalMutation CLINVAR N-WASP is required for Amphiphysin-2/BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy. 25262827 2014
dbSNP: rs121909092
rs121909092
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C1847902
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		A 0.700 CausalMutation CLINVAR Clinical and Pathological Features of Korean Patients with DNM2-Related Centronuclear Myopathy. 24465259 2014
dbSNP: rs121909092
rs121909092
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C1847902
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		A 0.700 CausalMutation CLINVAR Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy. 23338057 2013
dbSNP: rs121909092
rs121909092
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C1847902
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		A 0.700 CausalMutation CLINVAR Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort. 23394783 2013
dbSNP: rs121909092
rs121909092
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C1847902
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		A 0.700 CausalMutation CLINVAR Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. 22396310 2012
dbSNP: rs121909092
rs121909092
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C1847902
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		A 0.700 CausalMutation CLINVAR Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2. 22613877 2012
dbSNP: rs121909092
rs121909092
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C1847902
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		A 0.700 CausalMutation CLINVAR Phenotype variability and histopathological findings in centronuclear myopathy due to DNM2 mutations. 21221624 2011
dbSNP: rs121909092
rs121909092
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C1847902
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		A 0.700 CausalMutation CLINVAR Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies. 20927630 2011
dbSNP: rs121909092
rs121909092
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C1847902
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		A 0.700 CausalMutation CLINVAR Common membrane trafficking defects of disease-associated dynamin 2 mutations. 21762456 2011
dbSNP: rs121909092
rs121909092
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C1847902
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		A 0.700 CausalMutation CLINVAR Dynamin 2 mutants linked to centronuclear myopathies form abnormally stable polymers. 20529869 2010
dbSNP: rs121909092
rs121909092
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C1847902
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		A 0.700 CausalMutation CLINVAR Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. 20227276 2010
dbSNP: rs121909092
rs121909092
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C1847902
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		A 0.700 CausalMutation CLINVAR Dynamin 2-related centronuclear myopathy: clinical, histological and genetic aspects of further patients and review of the literature. 19130742 2009
dbSNP: rs121909092
rs121909092
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C1847902
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		A 0.700 CausalMutation CLINVAR A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy. 17008356 2006
dbSNP: rs121909092
rs121909092
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C1847902
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		A 0.700 CausalMutation CLINVAR Mutations in dynamin 2 cause dominant centronuclear myopathy. 16227997 2005