Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338671
rs80338671
0.810 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

dbSNP: rs80338671
rs80338671
0.810 CausalMutation CLINVAR Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design. 26199317

2016

dbSNP: rs80338671
rs80338671
0.810 GeneticVariation UNIPROT Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design. 26199317

2016

dbSNP: rs80338671
rs80338671
0.810 CausalMutation CLINVAR A novel mouse model that recapitulates adult-onset glycogenosis type 4. 26385640

2015

dbSNP: rs80338671
rs80338671
0.810 CausalMutation CLINVAR Adult Polyglucosan Body Disease (APBD): Anaplerotic diet therapy (Triheptanoin) and demonstration of defective methylation pathways. 20655781

2011

dbSNP: rs80338671
rs80338671
0.810 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
0.810 CausalMutation CLINVAR Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. 8613547

1996

dbSNP: rs80338671
rs80338671
0.810 GeneticVariation UNIPROT Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. 8613547

1996

dbSNP: rs80338671
rs80338671
0.810 CausalMutation CLINVAR Adult Polyglucosan Body Disease 20301758

1993

dbSNP: rs137852889
rs137852889
0.800 GeneticVariation UNIPROT Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). 15452297

2005

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

2005

dbSNP: rs80338673
rs80338673
0.800 CausalMutation CLINVAR Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). 15452297

2005

dbSNP: rs80338672
rs80338672
0.800 CausalMutation CLINVAR Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease. 10762170

2000

dbSNP: rs80338673
rs80338673
0.800 CausalMutation CLINVAR Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease. 10762170

2000

dbSNP: rs80338673
rs80338673
0.800 CausalMutation CLINVAR A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy. 10545044

1999

dbSNP: rs137852886
rs137852886
0.800 GeneticVariation UNIPROT Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. 8613547

1996

dbSNP: rs137852887
rs137852887
0.800 GeneticVariation UNIPROT Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. 8613547

1996

dbSNP: rs80338672
rs80338672
0.800 GeneticVariation UNIPROT Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. 8613547

1996

dbSNP: rs80338672
rs80338672
0.800 CausalMutation CLINVAR Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. 8613547

1996

dbSNP: rs137852886
rs137852886
0.800 CausalMutation CLINVAR Adult Polyglucosan Body Disease 20301758

1993

dbSNP: rs137852887
rs137852887
0.800 CausalMutation CLINVAR Adult Polyglucosan Body Disease 20301758

1993

dbSNP: rs137852889
rs137852889
0.800 CausalMutation CLINVAR Adult Polyglucosan Body Disease 20301758

1993

dbSNP: rs137852891
rs137852891
0.800 CausalMutation CLINVAR Adult Polyglucosan Body Disease 20301758

1993

dbSNP: rs80338672
rs80338672
0.800 CausalMutation CLINVAR Adult Polyglucosan Body Disease 20301758

1993

dbSNP: rs80338673
rs80338673
0.800 CausalMutation CLINVAR Adult Polyglucosan Body Disease 20301758

1993