rs398122853
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Becker Muscular Dystrophy
T
0.710
CausalMutation
CLINVAR
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
27708273
2017
rs398122853
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Becker Muscular Dystrophy
0.710
GeneticVariation
BEFREE
DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy .
19793655
2009
rs398122853
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Becker Muscular Dystrophy
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
rs398122853
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Becker Muscular Dystrophy
T
0.710
CausalMutation
CLINVAR
DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6.
19206170
2009
rs267606771
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Becker Muscular Dystrophy
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
rs267606771
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Becker Muscular Dystrophy
A
0.710
CausalMutation
CLINVAR
rs6631478
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Ankle brachial pressure index (observable entity)
T
0.700
GeneticVariation
GWASCAT
Variants Associated with the Ankle Brachial Index Differ by Hispanic/Latino Ethnic Group: a genome-wide association study in the Hispanic Community Health Study/Study of Latinos.
31388106
2019
rs398123942
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Muscular Dystrophy, Duchenne
A
0.700
CausalMutation
CLINVAR
Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases.
26968818
2018
rs1057522454
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
A
0.700
CausalMutation
CLINVAR
Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center.
27593222
2017
rs128626246
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
T
0.700
CausalMutation
CLINVAR
Clinical and mutational characteristics of Duchenne muscular dystrophy patients based on a comprehensive database in South China.
28318817
2017
rs1379871
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Body mass index
C
0.700
GeneticVariation
GWASCAT
Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.
28892062
2017
rs1556040444
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Muscular Dystrophy, Duchenne
T
0.700
CausalMutation
CLINVAR
Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center.
27593222
2017
rs1556503937
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Muscular Dystrophy, Duchenne
T
0.700
CausalMutation
CLINVAR
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.
28859693
2017
rs1556789913
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
T
0.700
CausalMutation
CLINVAR
Genetic analysis of the dystrophin gene in children with Duchenne and Becker muscular dystrophies.
27750387
2017
rs1557374667
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Muscular Dystrophy, Duchenne
A
0.700
CausalMutation
CLINVAR
Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center.
27593222
2017
rs1569530432
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
A
0.700
CausalMutation
CLINVAR
Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center.
27593222
2017
rs1569559106
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
C
0.700
CausalMutation
CLINVAR
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.
28859693
2017
rs398122853
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
T
0.700
CausalMutation
CLINVAR
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
27708273
2017
rs398122853
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Muscular Dystrophy, Duchenne
T
0.700
CausalMutation
CLINVAR
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
27708273
2017
rs398123832
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
A
0.700
CausalMutation
CLINVAR
Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center.
27593222
2017
rs398123923
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
A
0.700
CausalMutation
CLINVAR
Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center.
27593222
2017
rs398123935
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
A
0.700
CausalMutation
CLINVAR
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.
28859693
2017
rs398123953
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
A
0.700
CausalMutation
CLINVAR
Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center.
27593222
2017
rs398124050
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
A
0.700
CausalMutation
CLINVAR
Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center.
27593222
2017
rs398124094
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
T
0.700
CausalMutation
CLINVAR
Cryptic splice activation but not exon skipping is observed in minigene assays of dystrophin c.9361+1G>A mutation identified by NGS.
28100912
2017