| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.800 | CausalMutation | CLINVAR | Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). | 19562689 | 2009 |
|||
|
A | 0.800 | GeneticVariation | CLINVAR | Myopathy mutations in alpha-skeletal-muscle actin cause a range of molecular defects. | 15226407 | 2004 |
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|
A | 0.800 | CausalMutation | CLINVAR | Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. | 15236405 | 2004 |
|||
|
A | 0.800 | CausalMutation | CLINVAR | Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). | 12921789 | 2003 |
|||
|
A | 0.800 | CausalMutation | CLINVAR | Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). | 12921789 | 2003 |
|||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
C | 0.800 | GeneticVariation | CLINVAR | ||||||
|
T | 0.800 | GeneticVariation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic. | 27447704 | 2017 |
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|
T | 0.700 | CausalMutation | CLINVAR | Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations. | 26172852 | 2016 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations. | 26172852 | 2016 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. | 27854218 | 2016 |
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|
C | 0.700 | CausalMutation | CLINVAR | Hypoxic ischemic encephalopathy in a case of intranuclear rod myopathy without any prenatal sentinel event. | 24787270 | 2015 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Structure of the F-actin-tropomyosin complex. | 25470062 | 2015 |