Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553255354
rs1553255354
ACTA1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature. 25890230

2015
dbSNP: rs1553255354
rs1553255354
ACTA1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Review of Cardiac Disease in Nemaline Myopathy. 26507755

2015
dbSNP: rs1553255354
rs1553255354
ACTA1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Nemaline myopathy with dilated cardiomyopathy in childhood. 23650303

2013
dbSNP: rs1553255354
rs1553255354
ACTA1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). 19562689

2009
dbSNP: rs1553255354
rs1553255354
ACTA1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Variable presentation of nemaline myopathy: novel mutation of alpha actin gene. 16967490

2007
dbSNP: rs1553255354
rs1553255354
ACTA1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. 15236405

2004
dbSNP: rs1553255354
rs1553255354
ACTA1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Actin mutations are one cause of congenital fibre type disproportion. 15468086

2004
dbSNP: rs1553255354
rs1553255354
ACTA1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Clinical course correlates poorly with muscle pathology in nemaline myopathy. 12601110

2003
dbSNP: rs1553255354
rs1553255354
ACTA1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene. 11333380

2001