Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909527
rs121909527
ACTA1
0.700 GeneticVariation UNIPROT Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family. 25938801

2015
dbSNP: rs121909527
rs121909527
ACTA1
0.700 GeneticVariation UNIPROT Nemaline myopathy with dilated cardiomyopathy in childhood. 23650303

2013
dbSNP: rs121909527
rs121909527
ACTA1
0.700 GeneticVariation UNIPROT Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation. 22442437

2012
dbSNP: rs121909527
rs121909527
ACTA1
0.700 GeneticVariation UNIPROT Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness. 17705262

2007
dbSNP: rs121909527
rs121909527
ACTA1
0.700 GeneticVariation UNIPROT Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation. 16945537

2006
dbSNP: rs121909527
rs121909527
ACTA1
0.700 GeneticVariation UNIPROT Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred. 16427282

2006
dbSNP: rs121909527
rs121909527
ACTA1
0.700 GeneticVariation UNIPROT Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1). 15336687

2004
dbSNP: rs121909527
rs121909527
ACTA1
0.700 GeneticVariation UNIPROT Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms. 15198992

2004
dbSNP: rs121909527
rs121909527
ACTA1
0.700 GeneticVariation UNIPROT Missense mutations of ACTA1 cause dominant congenital myopathy with cores. 15520409

2004
dbSNP: rs121909527
rs121909527
ACTA1
0.700 GeneticVariation UNIPROT Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. 15236405

2004
dbSNP: rs121909527
rs121909527
ACTA1
0.700 GeneticVariation UNIPROT Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene. 11333380

2001
dbSNP: rs121909527
rs121909527
ACTA1
0.700 GeneticVariation UNIPROT Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene. 11166164

2001
dbSNP: rs121909527
rs121909527
ACTA1
0.700 GeneticVariation UNIPROT Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. 10508519

1999