rs139794067
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
rs104893750
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
MYBPC3 mutations are associated with a reduced super-relaxed state in patients with hypertrophic cardiomyopathy.
|
28658286 |
2017 |
rs104893750
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs199474703
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs199474706
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs199474703
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Whole exome sequencing combined with integrated variant annotation prediction identifies a causative myosin essential light chain variant in hypertrophic cardiomyopathy.
|
26443374 |
2016 |
rs104893750
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Widespread macromolecular interaction perturbations in human genetic disorders.
|
25910212 |
2015 |
rs104893750
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Mutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencing.
|
25342278 |
2014 |
rs199474703
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.
|
23283745 |
2013 |
rs104893750
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Mutations of ventricular essential myosin light chain disturb myosin binding and sarcomeric sorting.
|
22131351 |
2012 |
rs104893750
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy.
|
21823217 |
2011 |
rs199474706
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.
|
20031618 |
2009 |
rs199474703
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy.
|
18409188 |
2008 |
rs104893750
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology.
|
12021217 |
2002 |
rs199474703
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|