Gene: CAV3 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs116840795
rs116840795
CAV3 ; SSUH2
A 0.700 GeneticVariation CLINVAR CAV3 mutation in a patient with transient hyperCKemia and myalgia. 27772553

2017
dbSNP: rs116840795
rs116840795
CAV3 ; SSUH2
A 0.700 GeneticVariation CLINVAR Myotonia associated with caveolin-3 mutation. 22581547

2012
dbSNP: rs116840778
rs116840778
CAV3 ; SSUH2
A 0.700 CausalMutation CLINVAR Rippling is not always electrically silent in rippling muscle disease. 21404291

2011
dbSNP: rs116840778
rs116840778
CAV3 ; SSUH2
A 0.700 CausalMutation CLINVAR Differential effects of myopathy-associated caveolin-3 mutants on growth factor signaling. 20472890

2010
dbSNP: rs116840778
rs116840778
CAV3 ; SSUH2
A 0.700 CausalMutation CLINVAR Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin. 19380584

2009
dbSNP: rs116840778
rs116840778
CAV3 ; SSUH2
A 0.700 CausalMutation CLINVAR Phenotypic variability in a Spanish family with a Caveolin-3 mutation. 18930476

2009
dbSNP: rs116840778
rs116840778
CAV3 ; SSUH2
A 0.700 CausalMutation CLINVAR Caveolinopathy--new mutations and additional symptoms. 18583131

2008
dbSNP: rs116840778
rs116840778
CAV3 ; SSUH2
A 0.700 CausalMutation CLINVAR Molecular and muscle pathology in a series of caveolinopathy patients. 15580566

2005
dbSNP: rs28936686
rs28936686
CAV3 ; SSUH2
A 0.700 GeneticVariation CLINVAR Autosomal recessive rippling muscle disease with homozygous CAV3 mutations. 15668980

2005
dbSNP: rs116840778
rs116840778
CAV3 ; SSUH2
A 0.700 CausalMutation CLINVAR Phenotypic variability associated with Arg26Gln mutation in caveolin3. 15318349

2004
dbSNP: rs116840795
rs116840795
CAV3 ; SSUH2
A 0.700 GeneticVariation CLINVAR A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia. 15099591

2004
dbSNP: rs116840778
rs116840778
CAV3 ; SSUH2
A 0.700 CausalMutation CLINVAR Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene. 12939441

2003
dbSNP: rs116840778
rs116840778
CAV3 ; SSUH2
A 0.700 CausalMutation CLINVAR Phosphofructokinase muscle-specific isoform requires caveolin-3 expression for plasma membrane recruitment and caveolar targeting: implications for the pathogenesis of caveolin-related muscle diseases. 14633633

2003
dbSNP: rs116840778
rs116840778
CAV3 ; SSUH2
A 0.700 CausalMutation CLINVAR Caveolin-3 gene mutation in Japanese with rippling muscle disease. 12807393

2003
dbSNP: rs28936686
rs28936686
CAV3 ; SSUH2
A 0.700 GeneticVariation CLINVAR Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease. 12666119

2003
dbSNP: rs116840778
rs116840778
CAV3 ; SSUH2
A 0.700 CausalMutation CLINVAR Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy. 11805270

2002
dbSNP: rs116840778
rs116840778
CAV3 ; SSUH2
A 0.700 CausalMutation CLINVAR Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. 11431690

2001
dbSNP: rs116840778
rs116840778
CAV3 ; SSUH2
A 0.700 CausalMutation CLINVAR A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation. 11756609

2001
dbSNP: rs116840778
rs116840778
CAV3 ; SSUH2
A 0.700 CausalMutation CLINVAR Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. 10746614

2000
dbSNP: rs1060502318
rs1060502318
CAV3 ; SSUH2
T 0.700 CausalMutation CLINVAR

dbSNP: rs778914298
rs778914298
CAV3 ; SSUH2
G 0.700 CausalMutation CLINVAR

dbSNP: rs796052171
rs796052171
CAV3 ; SSUH2
T 0.700 GeneticVariation CLINVAR