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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A | 0.710 | CausalMutation | CLINVAR | |||||||||
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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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T | 0.710 | CausalMutation | CLINVAR | The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. | 27708273 | 2017 | ||||||
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T | 0.710 | CausalMutation | CLINVAR | DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy. | 19793655 | 2009 | ||||||
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T | 0.710 | CausalMutation | CLINVAR | DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6. | 19206170 | 2009 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 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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0.700 | GeneticVariation | UNIPROT | ||||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array. | 22223181 | 2012 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. | 19937601 | 2009 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | A case report with the peculiar concomitance of 2 different genetic syndromes. | 27930565 | 2016 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients. | 17854090 | 2008 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy. | 17259292 | 2007 |