rs397516373
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy.
|
29517769 |
2018 |
rs397516373
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Left ventricular non-compaction with Ebstein anomaly attributed to a TPM1 mutation.
|
29024827 |
2018 |
rs769139957
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features.
|
28630369 |
2017 |
rs397516373
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects.
|
28359939 |
2017 |
rs114638163
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.
|
27799064 |
2016 |
rs1057517686
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
|
27640307 |
2016 |
rs397516373
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs121912998
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young.
|
27435932 |
2016 |
rs397516373
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Ebstein anomaly, left ventricular non-compaction, and early onset heart failure associated with a de novo α-tropomyosin gene mutation.
|
27177193 |
2016 |
rs786205436
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.
|
26008905 |
2015 |
rs267606976
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Overexpression of G100S mutation in PRKAG2 causes Wolff-Parkinson-White syndrome in zebrafish.
|
23992123 |
2014 |
rs397516784
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics.
|
23785128 |
2013 |
rs869125101
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers.
|
23183350 |
2013 |
rs1024095026
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes.
|
23103869 |
2012 |
rs397516784
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy.
|
22820313 |
2012 |
rs56793579
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
On the other hand, affected subjects from three FPLD pedigrees with heterozygous R28W, R60G and R62G LMNA mutations in the amino-terminal had associated cardiomyopathy presenting as premature onset of congestive heart failure, dilated cardiomyopathy and conduction system disturbances.
|
20041886 |
2010 |
rs730880092
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities.
|
19924139 |
2010 |
rs397516784
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy.
|
16432188 |
2006 |
rs267606976
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Glycogen storage diseases presenting as hypertrophic cardiomyopathy.
|
15673802 |
2005 |
rs56793579
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
Post-mortem findings in familial partial lipodystrophy, Dunnigan variety.
|
12647844 |
2002 |
rs56793579
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene.
|
12015247 |
2002 |
rs76992529
|
|
A |
0.780 |
CausalMutation |
CLINVAR |
|
|
|
rs104894727
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057518905
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057519457
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|