Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518925
rs1057518925
COL6A2
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs121908110
rs121908110
FKRP
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		G 0.700 CausalMutation CLINVAR

dbSNP: rs142336618
rs142336618
GMPPB
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		G 0.700 CausalMutation CLINVAR Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy. 27874200

2017
dbSNP: rs142336618
rs142336618
GMPPB
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		G 0.700 CausalMutation CLINVAR Clinical features of the myasthenic syndrome arising from mutations in GMPPB. 27147698

2016
dbSNP: rs142336618
rs142336618
GMPPB
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		G 0.700 CausalMutation CLINVAR Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T). 27766311

2016
dbSNP: rs142336618
rs142336618
GMPPB
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		G 0.700 CausalMutation CLINVAR GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. 26310427

2015
dbSNP: rs142336618
rs142336618
GMPPB
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		G 0.700 CausalMutation CLINVAR Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. 26133662

2015
dbSNP: rs142336618
rs142336618
GMPPB
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		G 0.700 CausalMutation CLINVAR Expanding the phenotype of GMPPB mutations. 25681410

2015
dbSNP: rs142336618
rs142336618
GMPPB
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		G 0.700 CausalMutation CLINVAR Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. 23768512

2013
dbSNP: rs142908436
rs142908436
GMPPB
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		A 0.700 GeneticVariation CLINVAR Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy. 27874200

2017
dbSNP: rs142908436
rs142908436
GMPPB
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		A 0.700 GeneticVariation CLINVAR iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers. 27527004

2016
dbSNP: rs142908436
rs142908436
GMPPB
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		A 0.700 GeneticVariation CLINVAR Clinical features of the myasthenic syndrome arising from mutations in GMPPB. 27147698

2016
dbSNP: rs142908436
rs142908436
GMPPB
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		A 0.700 GeneticVariation CLINVAR Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T). 27766311

2016
dbSNP: rs142908436
rs142908436
GMPPB
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		A 0.700 GeneticVariation CLINVAR Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. 26133662

2015
dbSNP: rs142908436
rs142908436
GMPPB
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		A 0.700 GeneticVariation CLINVAR GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. 26310427

2015
dbSNP: rs1553264624
rs1553264624
LMNA
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553265369
rs1553265369
LMNA
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1553265433
rs1553265433
LMNA
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1553265436
rs1553265436
LMNA
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1553265761
rs1553265761
LMNA
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1553521119
rs1553521119
DYSF
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1553555585
rs1553555585
DYSF
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1553846331
rs1553846331
DOK7
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555421871
rs1555421871
CAPN3
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1556962271
rs1556962271
DMD
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		AAATG 0.700 GeneticVariation CLINVAR