Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909095
rs121909095
DNM2
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		T 0.700 CausalMutation CLINVAR Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort. 25957634

2015
dbSNP: rs121909095
rs121909095
DNM2
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		T 0.700 CausalMutation CLINVAR Dynamin-2 mutations associated with centronuclear myopathy are hypermorphic and lead to T-tubule fragmentation. 26199319

2015
dbSNP: rs121909095
rs121909095
DNM2
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		T 0.700 CausalMutation CLINVAR The myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing zebrafish. 24135484

2014
dbSNP: rs121909095
rs121909095
DNM2
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		T 0.700 CausalMutation CLINVAR Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy. 23338057

2013
dbSNP: rs121909095
rs121909095
DNM2
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		T 0.700 CausalMutation CLINVAR Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. 22396310

2012
dbSNP: rs121909095
rs121909095
DNM2
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		T 0.700 CausalMutation CLINVAR Dynamin GTPase regulation is altered by PH domain mutations found in centronuclear myopathy patients. 20700106

2010
dbSNP: rs121909095
rs121909095
DNM2
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		T 0.700 CausalMutation CLINVAR Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. 20227276

2010
dbSNP: rs121909095
rs121909095
DNM2
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		T 0.700 CausalMutation CLINVAR Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset. 17932957

2007