| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
TCA | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 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 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations. | 25891276 | 2015 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. | 26133662 | 2015 |
|||
|
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 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. | 23768512 | 2013 |
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|
G | 0.700 | CausalMutation | CLINVAR | Expanding the phenotype of GMPPB mutations. | 25681410 | 2015 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T). | 27766311 | 2016 |