rs142336618
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
Congenital muscular dystrophy (disorder)
0.010
GeneticVariation
BEFREE
We observe that c.79G>C (p.D27H ) is associated with a mild limb-girdle muscular dystrophy phenotype, whereas c.860G>A (p.R287Q) is associated with a relatively severe congenital muscular dystrophy typically involving brain development.
26310427
2015
rs202160208
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
Congenital muscular dystrophy (disorder)
0.010
GeneticVariation
BEFREE
We observe that c.79G>C (p.D27H) is associated with a mild limb-girdle muscular dystrophy phenotype, whereas c.860G>A (p.R287Q ) is associated with a relatively severe congenital muscular dystrophy typically involving brain development.
26310427
2015
rs142336618
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
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
rs142908436
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
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
rs202160208
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
T
0.700
CausalMutation
CLINVAR
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.
28478914
2017
rs202160208
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
T
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
rs559784211
GMPPB;RNF123
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
0.700
GeneticVariation
UNIPROT
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.
28478914
2017
rs559784211
GMPPB;RNF123
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
0.700
GeneticVariation
UNIPROT
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.
28433477
2017
rs771861177
GMPPB;RNF123
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
T
0.700
GeneticVariation
CLINVAR
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.
28433477
2017
rs771861177
GMPPB;RNF123
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
T
0.700
GeneticVariation
CLINVAR
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.
28433477
2017
rs781114909
GMPPB;RNF123
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
0.700
GeneticVariation
UNIPROT
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.
28433477
2017
rs781114909
GMPPB;RNF123
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
0.700
GeneticVariation
UNIPROT
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.
28478914
2017
rs142336618
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
Muscular Dystrophy
G
0.700
CausalMutation
CLINVAR
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).
27766311
2016
rs142336618
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
Muscular Dystrophy
G
0.700
CausalMutation
CLINVAR
Clinical features of the myasthenic syndrome arising from mutations in GMPPB.
27147698
2016
rs142908436
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
Muscular Dystrophy
A
0.700
GeneticVariation
CLINVAR
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).
27766311
2016
rs142908436
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
Muscular Dystrophy
A
0.700
GeneticVariation
CLINVAR
Clinical features of the myasthenic syndrome arising from mutations in GMPPB.
27147698
2016
rs142908436
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
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
rs199922550
GMPPB;RNF123
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
T
0.700
GeneticVariation
CLINVAR
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).
27766311
2016
rs199922550
GMPPB;RNF123
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
T
0.700
GeneticVariation
CLINVAR
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).
27766311
2016
rs202160208
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
T
0.700
CausalMutation
CLINVAR
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).
27766311
2016
rs142336618
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
G
0.700
CausalMutation
CLINVAR
Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype.
25770200
2015
rs142336618
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
Muscular Dystrophy
G
0.700
CausalMutation
CLINVAR
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
26133662
2015
rs142336618
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
G
0.700
CausalMutation
CLINVAR
Expanding the phenotype of GMPPB mutations.
25681410
2015
rs142336618
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
G
0.700
CausalMutation
CLINVAR
Expanding the phenotype of GMPPB mutations.
25681410
2015
rs142336618
×
Entrez Id:
29925
Gene Symbol:
GMPPB
GMPPB
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
G
0.700
CausalMutation
CLINVAR
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
26310427
2015