Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908963
rs121908963
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		A 0.800 GeneticVariation CLINVAR The absence of dysferlin induces the expression of functional connexin-based hemichannels in human myotubes. 27229680

2016
dbSNP: rs121908963
rs121908963
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		A 0.800 GeneticVariation CLINVAR Two common mutations (p.Gln832X and c.663+1G>C) account for about a third of the DYSF mutations in Korean patients with dysferlinopathy. 22297152

2012
dbSNP: rs121908963
rs121908963
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		A 0.800 GeneticVariation CLINVAR Dysferlin-peptides reallocate mutated dysferlin thereby restoring function. 23185377

2012
dbSNP: rs121908963
rs121908963
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		A 0.800 GeneticVariation CLINVAR Ahnak1 abnormally localizes in muscular dystrophies and contributes to muscle vesicle release. 22057634

2011
dbSNP: rs121908963
rs121908963
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		A 0.800 GeneticVariation CLINVAR Analysis of the DYSF mutational spectrum in a large cohort of patients. 18853459

2009
dbSNP: rs121908963
rs121908963
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		A 0.800 GeneticVariation CLINVAR Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding. 16705711

2006
dbSNP: rs121908963
rs121908963
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		A 0.800 CausalMutation CLINVAR