DMD, dystrophin, 1756
N. diseases: 484; N. variants: 345
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.710 | GeneticVariation | BEFREE | A nonsense mutation (E1211X) due to a G to T transversion at the 28th nucleotide of exon 27 (G3839T) was identified in the dystrophin gene of a Japanese Becker muscular dystrophy case. | 9410897 | 1997 | |||||||
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0.710 | GeneticVariation | BEFREE | DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy. | 19793655 | 2009 | |||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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0.010 | GeneticVariation | BEFREE | The boy was diagnosed with BMD, despite remarkable reduction in GAA activity; further, he demonstrated heterozygosity for [p.Gly576Ser; p.Glu689Lys] polymorphism variants that indicated pseudodeficiency on another allele in GAA. | 29778277 | 2018 | |||||||
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A | 0.710 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD. | 23453023 | 2013 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan. | 28859693 | 2017 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. | 25525159 | 2015 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. | 19937601 | 2009 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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AG | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.710 | CausalMutation | CLINVAR | The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. | 27708273 | 2017 |