| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T). | 27766311 | 2016 |
|||
|
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 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Clinical features of the myasthenic syndrome arising from mutations in GMPPB. | 27147698 | 2016 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. | 26133662 | 2015 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers. | 27527004 | 2016 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. | 26310427 | 2015 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
AAATG | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. | 29029362 | 2018 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy. | 28501893 | 2017 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. | 26976520 | 2016 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations. | 25891276 | 2015 |