Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909088
rs121909088
DNM2
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		G 0.800 CausalMutation CLINVAR

dbSNP: rs121909089
rs121909089
DNM2
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		A 0.800 CausalMutation CLINVAR

dbSNP: rs121909090
rs121909090
DNM2
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		T 0.800 CausalMutation CLINVAR

dbSNP: rs121909091
rs121909091
DNM2
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		T 0.800 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs121909091
rs121909091
DNM2
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		T 0.800 CausalMutation CLINVAR Dynamin 2 mutants linked to centronuclear myopathies form abnormally stable polymers. 20529869

2010
dbSNP: rs121909091
rs121909091
DNM2
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		T 0.800 CausalMutation CLINVAR A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice. 20858595

2010
dbSNP: rs121909091
rs121909091
DNM2
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		T 0.800 CausalMutation CLINVAR Mutations in dynamin 2 cause dominant centronuclear myopathy. 16227997

2005
dbSNP: rs121909092
rs121909092
DNM2
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		A 0.800 CausalMutation CLINVAR

dbSNP: rs121909093
rs121909093
DNM2
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		A 0.800 GeneticVariation CLINVAR

dbSNP: rs121909095
rs121909095
DNM2
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		G 0.800 CausalMutation CLINVAR

dbSNP: rs121909095
rs121909095
DNM2
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		T 0.800 GeneticVariation CLINVAR

dbSNP: rs121909095
rs121909095
DNM2
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		T 0.800 CausalMutation CLINVAR

dbSNP: rs267606772
rs267606772
DNM2
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		A 0.800 GeneticVariation CLINVAR

dbSNP: rs397514735
rs397514735
DNM2
CUI: C3809272
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 5
LETHAL CONGENITAL CONTRACTURE SYNDROME 5 		G 0.800 CausalMutation CLINVAR

dbSNP: rs587783595
rs587783595
DNM2
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
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
dbSNP: rs587783595
rs587783595
DNM2
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		A 0.800 CausalMutation CLINVAR Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. 20227276

2010
dbSNP: rs121909091
rs121909091
DNM2
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		T 0.720 CausalMutation CLINVAR

dbSNP: rs121909089
rs121909089
DNM2
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		A 0.710 CausalMutation CLINVAR

dbSNP: rs121909090
rs121909090
DNM2
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		T 0.710 CausalMutation CLINVAR

dbSNP: rs587783595
rs587783595
DNM2
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		A 0.710 CausalMutation CLINVAR

dbSNP: rs121909089
rs121909089
DNM2
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		A 0.700 CausalMutation CLINVAR Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells. 28676641

2017
dbSNP: rs121909089
rs121909089
DNM2
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		A 0.700 CausalMutation CLINVAR The coexistence of dynamin 2 mutation and multiple mitochondrial DNA (mtDNA) deletions in the background of severe cardiomyopathy and centronuclear myopathy. 25492887

2015
dbSNP: rs121909089
rs121909089
DNM2
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		A 0.700 CausalMutation CLINVAR A mutation associated with centronuclear myopathy enhances the size and stability of dynamin 2 complexes in cells. 24016602

2014
dbSNP: rs121909089
rs121909089
DNM2
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
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: rs121909089
rs121909089
DNM2
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
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