|
rs1553650442
|
|
Multiple congenital anomalies
|
ACC |
0.700 |
CausalMutation
|
CLINVAR |
Atypical phenotypes in titinopathies explained by second titin mutations.
|
24395473 |
2014 |
|
rs1553650442
|
|
Multiple congenital anomalies
|
ACC |
0.700 |
CausalMutation
|
CLINVAR |
Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.
|
24105469 |
2014 |
|
rs1553650442
|
|
Multiple congenital anomalies
|
ACC |
0.700 |
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 |
|
rs1553650442
|
|
Multiple congenital anomalies
|
ACC |
0.700 |
CausalMutation
|
CLINVAR |
Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2.
|
23518707 |
2013 |
|
rs1553650442
|
|
Multiple congenital anomalies
|
ACC |
0.700 |
CausalMutation
|
CLINVAR |
Truncations of titin causing dilated cardiomyopathy.
|
22335739 |
2012 |
|
rs1553650442
|
|
Multiple congenital anomalies
|
ACC |
0.700 |
CausalMutation
|
CLINVAR |
Contribution of genetic factors to the pathogenesis of dilated cardiomyopathy: the cause of dilated cardiomyopathy: genetic or acquired? (genetic-side).
|
21617319 |
2011 |
|
rs1553650442
|
|
Multiple congenital anomalies
|
ACC |
0.700 |
CausalMutation
|
CLINVAR |
Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes.
|
21810661 |
2011 |
|
rs1553650442
|
|
Multiple congenital anomalies
|
ACC |
0.700 |
CausalMutation
|
CLINVAR |
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).
|
18948003 |
2008 |
|
rs1553650442
|
|
Multiple congenital anomalies
|
ACC |
0.700 |
CausalMutation
|
CLINVAR |
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.
|
17444505 |
2007 |
|
rs1553650442
|
|
Multiple congenital anomalies
|
ACC |
0.700 |
CausalMutation
|
CLINVAR |
Left ventricular systolic dysfunction and ischemic cardiomyopathy.
|
12669942 |
2003 |
|
rs1553650442
|
|
Multiple congenital anomalies
|
ACC |
0.700 |
CausalMutation
|
CLINVAR |
Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.
|
12145747 |
2002 |
|
rs1553650442
|
|
Multiple congenital anomalies
|
ACC |
0.700 |
CausalMutation
|
CLINVAR |
The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system.
|
11717165 |
2001 |
|
rs1553650442
|
|
Multiple congenital anomalies
|
ACC |
0.700 |
CausalMutation
|
CLINVAR |
Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene.
|
10462489 |
1999 |
|
rs1553650442
|
|
Multiple congenital anomalies
|
ACC |
0.700 |
CausalMutation
|
CLINVAR |
Muscular dystrophy with separate clinical phenotypes in a large family.
|
1745277 |
1991 |