rs137852888
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
rs137852890
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1553690406
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs763016962
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs766935302
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).
|
15452297 |
2004 |
rs766935302
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).
|
15452297 |
2004 |
rs766935302
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Neuromuscular forms of glycogen branching enzyme deficiency.
|
17915577 |
2007 |
rs766935302
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
"Neonatal type IV glycogen storage disease associated with ""null"" mutations in glycogen branching enzyme 1."
|
15520786 |
2004 |
rs766935302
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
"Neonatal type IV glycogen storage disease associated with ""null"" mutations in glycogen branching enzyme 1."
|
15520786 |
2004 |
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 |
rs80338672
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs137852889
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs80338671
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.
|
26199317 |
2015 |
rs80338671
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.
|
23034915 |
2012 |
rs80338671
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.
|
25665141 |
2015 |
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 |
rs80338671
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
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 |
rs1057517315
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
A neonatal form of glycogen storage disease type IV.
|
12913206 |
2003 |
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 |
rs886058900
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Adult polyglucosan body disease: clinical and histological heterogeneity of a large Italian family.
|
25728520 |
2015 |
rs886058900
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder.
|
20058079 |
2010 |
rs137852886
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs137852886
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.
|
25665141 |
2015 |
rs137852886
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.
|
8613547 |
1996 |