×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
CausalMutation
CLINVAR
A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure.
24444549 2014
×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
CausalMutation
CLINVAR
A rising titan: TTN review and mutation update.
24980681 2014
×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
CausalMutation
CLINVAR
Association between mutation status and left ventricular reverse remodelling in dilated cardiomyopathy.
28416588 2017
×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
GeneticVariation
CLINVAR
Atlas of the clinical genetics of human dilated cardiomyopathy.
25163546 2015
×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
CausalMutation
CLINVAR
Atlas of the clinical genetics of human dilated cardiomyopathy.
25163546 2015
×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
CausalMutation
CLINVAR
Atypical phenotypes in titinopathies explained by second titin mutations.
24395473 2014
×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
GeneticVariation
CLINVAR
Atypical phenotypes in titinopathies explained by second titin mutations.
24395473 2014
×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
CausalMutation
CLINVAR
Biophysical characterization of naturally occurring titin M10 mutations.
25739468 2015
×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
CausalMutation
CLINVAR
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.
17444505 2007
×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
GeneticVariation
CLINVAR
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.
17444505 2007
×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
CausalMutation
CLINVAR
Clinical and Pathological Findings of a Korean Family with Pathogenic Variants of the TTN Gene.
27868403 2017
×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
CausalMutation
CLINVAR
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.
28877744 2017
×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
CausalMutation
CLINVAR
Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy.
23418287 2013
×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
GeneticVariation
CLINVAR
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.
27353043 2016
×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
CausalMutation
CLINVAR
Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation.
26899768 2016
×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
GeneticVariation
CLINVAR
Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy.
26084686 2015
×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
CausalMutation
CLINVAR
HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy.
26315439 2015
×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
CausalMutation
CLINVAR
Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119 subdomain.
24636144 2014
×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
CausalMutation
CLINVAR
Hereditary myopathy with early respiratory failure: occurrence in various populations.
23606733 2014
×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
CausalMutation
CLINVAR
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.
25589632 2015
×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
GeneticVariation
CLINVAR
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.
25589632 2015
×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
CausalMutation
CLINVAR
LOVD v.2.0: the next generation in gene variant databases.
21520333 2011
×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
GeneticVariation
CLINVAR
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.
25214167 2014
×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
CausalMutation
CLINVAR
New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure.
25500009 2015
×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
CausalMutation
CLINVAR
Next generation sequencing for molecular diagnosis of neuromuscular diseases.
22526018 2012