rs397516248
|
|
Distal Myopathy 1
|
T |
0.710 |
CausalMutation
|
CLINVAR |
165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands.
|
19477645 |
2009 |
rs397516248
|
|
Cardiomyopathy, Hypertrophic, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs397516248
|
|
Cardiomyopathy, Hypertrophic, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A Wide and Specific Spectrum of Genetic Variants and Genotype-Phenotype Correlations Revealed by Next-Generation Sequencing in Patients with Left Ventricular Noncompaction.
|
28855170 |
2017 |
rs397516248
|
|
Cardiomyopathy, Hypertrophic, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.
|
27387980 |
2016 |
rs397516248
|
|
Cardiomyopathy, Dilated
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A rare mutation in MYH7 gene occurs with overlapping phenotype.
|
25576864 |
2015 |
rs397516248
|
|
Cardiomyopathy, Hypertrophic, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A rare mutation in MYH7 gene occurs with overlapping phenotype.
|
25576864 |
2015 |
rs397516248
|
|
Neuromuscular Diseases
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A rare mutation in MYH7 gene occurs with overlapping phenotype.
|
25576864 |
2015 |
rs397516248
|
|
Cardiomyopathy, Hypertrophic, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
|
24503780 |
2014 |
rs397516248
|
|
Neuromuscular Diseases
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.
|
24664454 |
2014 |
rs397516248
|
|
Cardiomyopathy, Hypertrophic, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.
|
24664454 |
2014 |
rs397516248
|
|
Left ventricular noncompaction cardiomyopathy
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.
|
24664454 |
2014 |
rs397516248
|
|
Cardiomyopathy, Dilated
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.
|
24664454 |
2014 |
rs397516248
|
|
Cardiomyopathy, Dilated
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Myosinopathies: pathology and mechanisms.
|
22918376 |
2013 |
rs397516248
|
|
Neuromuscular Diseases
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Myosinopathies: pathology and mechanisms.
|
22918376 |
2013 |
rs397516248
|
|
Neuromuscular Diseases
|
T |
0.700 |
CausalMutation
|
CLINVAR |
165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands.
|
19477645 |
2009 |
rs397516248
|
|
Left ventricular noncompaction cardiomyopathy
|
T |
0.700 |
CausalMutation
|
CLINVAR |
165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands.
|
19477645 |
2009 |
rs397516248
|
|
Cardiomyopathy, Dilated
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands.
|
19477645 |
2009 |
rs397516248
|
|
Cardiomyopathy, Hypertrophic, Familial
|
T |
0.700 |
CausalMutation
|
CLINVAR |
165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands.
|
19477645 |
2009 |
rs397516248
|
|
Cardiomyopathy, Dilated
|
T |
0.700 |
CausalMutation
|
CLINVAR |
165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands.
|
19477645 |
2009 |