Gene: DYSF ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908959
rs121908959
DYSF
T 0.710 CausalMutation CLINVAR The new R1905X DYSF founder mutation produced the 3 possible dysferlinopathy phenotypes without intrafamilial heterogeneity. 16087766

2005
dbSNP: rs727503909
rs727503909
DYSF
T 0.700 CausalMutation CLINVAR Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement. 25821721

2019
dbSNP: rs201869739
rs201869739
DYSF
A 0.700 CausalMutation CLINVAR Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders. 27363342

2017
dbSNP: rs398123799
rs398123799
DYSF
CA 0.700 CausalMutation CLINVAR Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic. 27447704

2017
dbSNP: rs766341386
rs766341386
DYSF
C 0.700 CausalMutation CLINVAR Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing. 28403181

2017
dbSNP: rs766341386
rs766341386
DYSF
CT 0.700 CausalMutation CLINVAR Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic. 27447704

2017
dbSNP: rs121908955
rs121908955
DYSF
T 0.700 CausalMutation CLINVAR Dysferlin-mediated phosphatidylserine sorting engages macrophages in sarcolemma repair. 27641898

2016
dbSNP: rs121908955
rs121908955
DYSF
T 0.700 CausalMutation CLINVAR Dysferlin mutations and mitochondrial dysfunction. 27666772

2016
dbSNP: rs140108514
rs140108514
DYSF
A 0.700 CausalMutation CLINVAR Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 27854218

2016
dbSNP: rs1423123313
rs1423123313
DYSF
T 0.700 CausalMutation CLINVAR Isotretinoin treatment of autosomal recessive congenital ichthyosis complicated by coexisting dysferlinopathy. 26620441

2016
dbSNP: rs150877497
rs150877497
DYSF
A 0.700 CausalMutation CLINVAR Clinical Reasoning: A 30-year-old man with progressive weakness and atrophy. 27821570

2016
dbSNP: rs369607332
rs369607332
DYSF
T 0.700 CausalMutation CLINVAR Dysferlinopathy: mitochondrial abnormalities in human skeletal muscle. 26000923

2016
dbSNP: rs373585652
rs373585652
DYSF
T 0.700 CausalMutation CLINVAR Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy. 27647186

2016
dbSNP: rs398123799
rs398123799
DYSF
CA 0.700 CausalMutation CLINVAR The Clinical Outcome Study for dysferlinopathy: An international multicenter study. 27602406

2016
dbSNP: rs746243052
rs746243052
DYSF
T 0.700 GeneticVariation CLINVAR Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing. 25783436

2016
dbSNP: rs746243052
rs746243052
DYSF
T 0.700 GeneticVariation CLINVAR Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy. 27647186

2016
dbSNP: rs766341386
rs766341386
DYSF
CT 0.700 CausalMutation CLINVAR Precise Correction of Disease Mutations in Induced Pluripotent Stem Cells Derived From Patients With Limb Girdle Muscular Dystrophy. 26916285

2016
dbSNP: rs766341386
rs766341386
DYSF
C 0.700 CausalMutation CLINVAR The absence of dysferlin induces the expression of functional connexin-based hemichannels in human myotubes. 27229680

2016
dbSNP: rs886044131
rs886044131
DYSF
A 0.700 GeneticVariation CLINVAR Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy. 27647186

2016
dbSNP: rs150877497
rs150877497
DYSF
A 0.700 CausalMutation CLINVAR Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy. 25868377

2015
dbSNP: rs150877497
rs150877497
DYSF
A 0.700 CausalMutation CLINVAR Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy. 25591676

2015
dbSNP: rs201869739
rs201869739
DYSF
A 0.700 CausalMutation CLINVAR Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy. 25591676

2015
dbSNP: rs369607332
rs369607332
DYSF
T 0.700 CausalMutation CLINVAR Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy. 25591676

2015
dbSNP: rs398123763
rs398123763
DYSF
A 0.700 GeneticVariation CLINVAR Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy. 25591676

2015
dbSNP: rs398123799
rs398123799
DYSF
CA 0.700 CausalMutation CLINVAR Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells. 27858744

2015