Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553255501
rs1553255501
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
C 0.700 GeneticVariation CLINVAR Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. 15236405

2004

dbSNP: rs1553255501
rs1553255501
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
C 0.700 GeneticVariation CLINVAR Clinical course correlates poorly with muscle pathology in nemaline myopathy. 12601110

2003

dbSNP: rs1553255501
rs1553255501
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
C 0.700 GeneticVariation CLINVAR Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene. 11333380

2001

dbSNP: rs1553255501
rs1553255501
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
C 0.700 GeneticVariation CLINVAR Nemaline myopathy with dilated cardiomyopathy in childhood. 23650303

2013

dbSNP: rs1553255501
rs1553255501
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
C 0.700 GeneticVariation CLINVAR Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature. 25890230

2015

dbSNP: rs1553255501
rs1553255501
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
C 0.700 GeneticVariation CLINVAR Variable presentation of nemaline myopathy: novel mutation of alpha actin gene. 16967490

2007

dbSNP: rs1553255501
rs1553255501
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
C 0.700 GeneticVariation CLINVAR Review of Cardiac Disease in Nemaline Myopathy. 26507755

2015

dbSNP: rs1553255501
rs1553255501
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
C 0.700 GeneticVariation CLINVAR Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). 19562689

2009

dbSNP: rs1553255501
rs1553255501
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
C 0.700 GeneticVariation CLINVAR Actin mutations are one cause of congenital fibre type disproportion. 15468086

2004

dbSNP: rs1553255354
rs1553255354
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
G 0.700 CausalMutation CLINVAR Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. 15236405

2004

dbSNP: rs1553255354
rs1553255354
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
G 0.700 CausalMutation CLINVAR Actin mutations are one cause of congenital fibre type disproportion. 15468086

2004

dbSNP: rs1553255354
rs1553255354
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
G 0.700 CausalMutation CLINVAR Review of Cardiac Disease in Nemaline Myopathy. 26507755

2015

dbSNP: rs1553255354
rs1553255354
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
G 0.700 CausalMutation CLINVAR Variable presentation of nemaline myopathy: novel mutation of alpha actin gene. 16967490

2007

dbSNP: rs1553255354
rs1553255354
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
G 0.700 CausalMutation CLINVAR Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene. 11333380

2001

dbSNP: rs1553255354
rs1553255354
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
G 0.700 CausalMutation CLINVAR Clinical course correlates poorly with muscle pathology in nemaline myopathy. 12601110

2003

dbSNP: rs1553255354
rs1553255354
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
G 0.700 CausalMutation CLINVAR Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). 19562689

2009

dbSNP: rs1553255354
rs1553255354
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
G 0.700 CausalMutation CLINVAR Nemaline myopathy with dilated cardiomyopathy in childhood. 23650303

2013

dbSNP: rs746547282
rs746547282
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
T 0.700 GeneticVariation CLINVAR Role of Gα(olf) in familial and sporadic adult-onset primary dystonia. 23449625

2013

dbSNP: rs746547282
rs746547282
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
T 0.700 GeneticVariation CLINVAR Structure, mechanism, and regulation of soluble adenylyl cyclases - similarities and differences to transmembrane adenylyl cyclases. 25193033

2014

dbSNP: rs746547282
rs746547282
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
T 0.700 GeneticVariation CLINVAR Cloning and expression of an adenylyl cyclase localized to the corpus striatum. 8429907

1993

dbSNP: rs746547282
rs746547282
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
T 0.700 GeneticVariation CLINVAR Localization of D1 and D2 dopamine receptors in brain with subtype-specific antibodies. 8415621

1993

dbSNP: rs746547282
rs746547282
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
T 0.700 GeneticVariation CLINVAR Isolation and characterization of a novel cardiac adenylylcyclase cDNA. 1618857

1992

dbSNP: rs746547282
rs746547282
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
T 0.700 GeneticVariation CLINVAR ADCY5-related dyskinesia presenting as familial myoclonus-dystonia. 28229249

2017

dbSNP: rs746547282
rs746547282
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
T 0.700 GeneticVariation CLINVAR Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series. 27052971

2016