Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201958741
rs201958741
0.810 GeneticVariation BEFREE Autopsy of a 50-year-old woman with adult polyglucosan body disease and missense mutations (Arg515His, Arg524Gln) in the glycogen branching enzyme gene (GBE) revealed accumulation of polyglucosan bodies in the heart, brain, and nerve. 12874416

2004

dbSNP: rs201958741
rs201958741
0.810 GeneticVariation UNIPROT Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease. 10762170

2000

dbSNP: rs201958741
rs201958741
0.810 CausalMutation CLINVAR

dbSNP: rs80338671
rs80338671
0.720 GeneticVariation BEFREE A non-catalytic binding cleft, proximal to the site of the common APBD mutation p.Y329S, was found to bind the tetra- and hepta-saccharides and may represent a higher-affinity site employed to anchor the complex glycogen substrate for the branching reaction. 26199317

2016

dbSNP: rs80338671
rs80338671
0.720 GeneticVariation BEFREE Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene. 9851430

1999

dbSNP: rs80338671
rs80338671
0.720 CausalMutation CLINVAR

dbSNP: rs137852893
rs137852893
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs192044702
rs192044702
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs369574719
rs369574719
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs80338673
rs80338673
0.700 GeneticVariation UNIPROT

dbSNP: rs752711257
rs752711257
0.010 GeneticVariation BEFREE Therefore, we performed additional investigations that eventually led to the diagnosis of adult polyglucosan body disease caused by two novel missense mutations (p.Asp413His and p.Gly534Val) in the glycogen branching enzyme gene. 24380807

2014