Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587783595
rs587783595
DNM2
0.800 GeneticVariation UNIPROT Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. 22396310

2012
dbSNP: rs587783595
rs587783595
DNM2
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Centronuclear and myotubular myopathies. 22617344

2012
dbSNP: rs587783595
rs587783595
DNM2
A 0.800 CausalMutation CLINVAR Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy. 22096584

2011
dbSNP: rs587783595
rs587783595
DNM2
0.800 GeneticVariation UNIPROT Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset. 19932619

2010
dbSNP: rs587783595
rs587783595
DNM2
0.800 GeneticVariation UNIPROT Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation. 19932620

2010
dbSNP: rs587783595
rs587783595
DNM2
A 0.800 CausalMutation CLINVAR Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. 20227276

2010
dbSNP: rs587783595
rs587783595
DNM2
0.800 GeneticVariation UNIPROT Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. 20227276

2010
dbSNP: rs587783595
rs587783595
DNM2
0.800 GeneticVariation UNIPROT A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation. 19122038

2009
dbSNP: rs587783595
rs587783595
DNM2
0.800 GeneticVariation UNIPROT Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis. 19623537

2009
dbSNP: rs587783595
rs587783595
DNM2
0.800 GeneticVariation UNIPROT Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation. 17825552

2007
dbSNP: rs587783595
rs587783595
DNM2
0.800 GeneticVariation UNIPROT Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset. 17932957

2007
dbSNP: rs587783595
rs587783595
DNM2
0.800 GeneticVariation UNIPROT Mutations in dynamin 2 cause dominant centronuclear myopathy. 16227997

2005