| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | GeneticVariation | CLINVAR | Myopathy mutations in alpha-skeletal-muscle actin cause a range of molecular defects. | 15226407 | 2004 |
|||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
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 | Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. | 15236405 | 2004 |
|||
|
A | 0.800 | CausalMutation | CLINVAR | Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). | 19562689 | 2009 |
|||
|
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 | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
C | 0.800 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | Hypoxic ischemic encephalopathy in a case of intranuclear rod myopathy without any prenatal sentinel event. | 24787270 | 2015 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). | 19562689 | 2009 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy. | 24852243 | 2014 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). | 12921789 | 2003 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). | 19562689 | 2009 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1. | 20303757 | 2010 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR |