×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
GeneticVariation
CLINVAR
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
27532257 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
GeneticVariation
CLINVAR
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
23975875 2013
×
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
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
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
GeneticVariation
CLINVAR
Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy.
27813223 2017
×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
GeneticVariation
CLINVAR
Prevalence of Titin Truncating Variants in General Population.
26701604 2015
×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
GeneticVariation
CLINVAR
Truncations of titin causing dilated cardiomyopathy.
22335739 2012
×
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
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
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
GeneticVariation
CLINVAR
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).
18948003 2008
×
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
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
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
Next generation sequencing for molecular diagnosis of neuromuscular diseases.
22526018 2012
×
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
CausalMutation
CLINVAR
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).
18948003 2008
×
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
CausalMutation
CLINVAR
Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease.
28611029 2017
×
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
The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy.
29057560 2018
×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
CausalMutation
CLINVAR
Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies.
26735901 2016
×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
CausalMutation
CLINVAR
Truncations of titin causing dilated cardiomyopathy.
22335739 2012