| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. | 9537420 | 1998 | |||||||
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0.700 | GeneticVariation | UNIPROT | Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. | 9537420 | 1998 | |||||||
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A | 0.800 | CausalMutation | CLINVAR | Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. | 10746614 | 2000 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. | 10746614 | 2000 | ||||||
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0.800 | GeneticVariation | UNIPROT | Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy. | 11001938 | 2000 | |||||||
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0.700 | GeneticVariation | UNIPROT | Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy. | 11001938 | 2000 | |||||||
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0.010 | GeneticVariation | BEFREE | Here we report on a 4-year-old girl presenting with myalgia and muscle cramps due to a caveolin-3 deficiency in her dystrophic skeletal muscle as a result of a heterozygous 136G-->A substitution in the caveolin-3 gene. | 11001938 | 2000 | |||||||
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0.010 | GeneticVariation | BEFREE | Here we report on a 4-year-old girl presenting with myalgia and muscle cramps due to a caveolin-3 deficiency in her dystrophic skeletal muscle as a result of a heterozygous 136G-->A substitution in the caveolin-3 gene. | 11001938 | 2000 | |||||||
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0.010 | GeneticVariation | BEFREE | Here we report on a 4-year-old girl presenting with myalgia and muscle cramps due to a caveolin-3 deficiency in her dystrophic skeletal muscle as a result of a heterozygous 136G-->A substitution in the caveolin-3 gene. | 11001938 | 2000 | |||||||
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0.010 | GeneticVariation | BEFREE | Here we report on a 4-year-old girl presenting with myalgia and muscle cramps due to a caveolin-3 deficiency in her dystrophic skeletal muscle as a result of a heterozygous 136G-->A substitution in the caveolin-3 gene. | 11001938 | 2000 | |||||||
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0.010 | GeneticVariation | BEFREE | Two rare G55S and C71W missense changes previously detected only in LGMD patients (and not detected in 100 normal controls from the American population) were now found in normal Brazilian controls. | 11251997 | 2001 | |||||||
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0.010 | GeneticVariation | BEFREE | In addition, we have identified a novel R125H missense change in one LGMD female patient that was also found in two of her unaffected siblings. | 11251997 | 2001 | |||||||
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A | 0.800 | CausalMutation | CLINVAR | Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. | 11431690 | 2001 | ||||||
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0.800 | GeneticVariation | UNIPROT | Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. | 11431690 | 2001 |