Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338671
rs80338671
C 0.710 GeneticVariation CLINVAR The Y329S allele was also detected in another patient with the nonprogressive form of GSD-IV but not in 35 unrelated controls or in patients with the more severe forms of GSD-IV. 8613547

1996

dbSNP: rs80338671
rs80338671
0.710 GeneticVariation BEFREE The Y329S allele was also detected in another patient with the nonprogressive form of GSD-IV but not in 35 unrelated controls or in patients with the more severe forms of GSD-IV. 8613547

1996

dbSNP: rs80338671
rs80338671
G 0.710 CausalMutation CLINVAR The Y329S allele was also detected in another patient with the nonprogressive form of GSD-IV but not in 35 unrelated controls or in patients with the more severe forms of GSD-IV. 8613547

1996

dbSNP: rs137852888
rs137852888
A 0.710 CausalMutation CLINVAR

dbSNP: rs80338671
rs80338671
C 0.710 CausalMutation CLINVAR

dbSNP: rs192044702
rs192044702
G 0.700 CausalMutation CLINVAR Glycogen Storage Disease Type IV and Early Implantation Defect: Early Trophoblastic Involvement Associated with a New GBE1 Mutation. 25489661

2017

dbSNP: rs192044702
rs192044702
G 0.700 CausalMutation CLINVAR Teaching NeuroImages: Prominent spinal cord atrophy and white matter changes in adult polyglucosan body disease. 28507268

2017

dbSNP: rs192044702
rs192044702
G 0.700 CausalMutation CLINVAR Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy. 26886200

2016

dbSNP: rs192044702
rs192044702
G 0.700 CausalMutation CLINVAR Glycogen Storage Disease Type IV: A Case With Histopathologic Findings in First-Trimester Placental Tissue. 26166723

2016

dbSNP: rs886058900
rs886058900
C 0.700 GeneticVariation CLINVAR Adult polyglucosan body disease: clinical and histological heterogeneity of a large Italian family. 25728520

2015

dbSNP: rs201958741
rs201958741
T 0.700 GeneticVariation CLINVAR Branching enzyme deficiency: expanding the clinical spectrum. 24248152

2014

dbSNP: rs192044702
rs192044702
G 0.700 CausalMutation CLINVAR Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations. 23218673

2013

dbSNP: rs1057517315
rs1057517315
C 0.700 CausalMutation CLINVAR Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation. 21917543

2012

dbSNP: rs192044702
rs192044702
G 0.700 CausalMutation CLINVAR Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. 23034915

2012

dbSNP: rs192044702
rs192044702
G 0.700 CausalMutation CLINVAR Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations. 19813197

2010

dbSNP: rs192044702
rs192044702
G 0.700 CausalMutation CLINVAR Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder. 20058079

2010

dbSNP: rs886058900
rs886058900
C 0.700 GeneticVariation CLINVAR Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder. 20058079

2010

dbSNP: rs766935302
rs766935302
A 0.700 GeneticVariation CLINVAR Glycogen branching enzyme deficiency in an infant with severe congenital hypotonia: an emerging diagnosis of muscle weakness in the perinatal period. 19438752

2009

dbSNP: rs886058900
rs886058900
C 0.700 GeneticVariation CLINVAR Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene. 17994551

2008

dbSNP: rs766935302
rs766935302
A 0.700 CausalMutation CLINVAR Neuromuscular forms of glycogen branching enzyme deficiency. 17915577

2007

dbSNP: rs137852891
rs137852891
0.700 GeneticVariation UNIPROT Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). 15452297

2004

dbSNP: rs192044702
rs192044702
G 0.700 CausalMutation CLINVAR Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). 15452297

2004

dbSNP: rs766935302
rs766935302
A 0.700 CausalMutation CLINVAR "Neonatal type IV glycogen storage disease associated with ""null"" mutations in glycogen branching enzyme 1." 15520786

2004

dbSNP: rs766935302
rs766935302
A 0.700 CausalMutation CLINVAR Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). 15452297

2004

dbSNP: rs766935302
rs766935302
A 0.700 GeneticVariation CLINVAR Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). 15452297

2004