DNM2, dynamin 2, 1785

N. diseases: 178; N. variants: 30
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909091
rs121909091
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
Myopathy, Centronuclear, 1
T 0.800 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
dbSNP: rs397514735
rs397514735
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C3809272
Disease:
LETHAL CONGENITAL CONTRACTURE SYNDROME 5
0.800 GeneticVariation UNIPROT Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome. 23092955 2013
dbSNP: rs121909089
rs121909089
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
Myopathy, Centronuclear, 1
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Centronuclear and myotubular myopathies. 22617344 2012
dbSNP: rs121909089
rs121909089
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
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
dbSNP: rs121909090
rs121909090
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
Myopathy, Centronuclear, 1
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Centronuclear and myotubular myopathies. 22617344 2012
dbSNP: rs121909090
rs121909090
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
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
dbSNP: rs121909091
rs121909091
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
Myopathy, Centronuclear, 1
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Centronuclear and myotubular myopathies. 22617344 2012
dbSNP: rs121909091
rs121909091
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
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
dbSNP: rs121909092
rs121909092
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
Myopathy, Centronuclear, 1
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Centronuclear and myotubular myopathies. 22617344 2012
dbSNP: rs121909092
rs121909092
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
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
dbSNP: rs121909095
rs121909095
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
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
dbSNP: rs121909095
rs121909095
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
Myopathy, Centronuclear, 1
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Centronuclear and myotubular myopathies. 22617344 2012
dbSNP: rs587783595
rs587783595
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
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
dbSNP: rs587783595
rs587783595
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
Myopathy, Centronuclear, 1
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Centronuclear and myotubular myopathies. 22617344 2012
dbSNP: rs587783595
rs587783595
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
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: rs121909089
rs121909089
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
Myopathy, Centronuclear, 1
0.800 GeneticVariation UNIPROT Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. 20227276 2010
dbSNP: rs121909089
rs121909089
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
Myopathy, Centronuclear, 1
0.800 GeneticVariation UNIPROT Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation. 19932620 2010
dbSNP: rs121909089
rs121909089
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
Myopathy, Centronuclear, 1
0.800 GeneticVariation UNIPROT Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset. 19932619 2010
dbSNP: rs121909090
rs121909090
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
Myopathy, Centronuclear, 1
0.800 GeneticVariation UNIPROT Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation. 19932620 2010
dbSNP: rs121909090
rs121909090
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
Myopathy, Centronuclear, 1
0.800 GeneticVariation UNIPROT Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset. 19932619 2010
dbSNP: rs121909090
rs121909090
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
Myopathy, Centronuclear, 1
0.800 GeneticVariation UNIPROT Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. 20227276 2010
dbSNP: rs121909091
rs121909091
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
Myopathy, Centronuclear, 1
0.800 GeneticVariation UNIPROT Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation. 19932620 2010
dbSNP: rs121909091
rs121909091
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
Myopathy, Centronuclear, 1
T 0.800 CausalMutation CLINVAR Dynamin 2 mutants linked to centronuclear myopathies form abnormally stable polymers. 20529869 2010
dbSNP: rs121909091
rs121909091
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
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
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C4551952
Disease:
Myopathy, Centronuclear, 1
0.800 GeneticVariation UNIPROT Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. 20227276 2010