rs104894205
|
Entrez Id: |
8048 |
Gene Symbol: |
CSRP3 |
CSRP3
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs104894205
|
Entrez Id: |
8048 |
Gene Symbol: |
CSRP3 |
CSRP3
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
|
G |
0.800 |
GeneticVariation |
CLINVAR |
High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort.
|
22429680 |
2012 |
rs104894205
|
Entrez Id: |
8048 |
Gene Symbol: |
CSRP3 |
CSRP3
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.
|
18505755 |
2008 |
rs104894205
|
Entrez Id: |
8048 |
Gene Symbol: |
CSRP3 |
CSRP3
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin.
|
16352453 |
2006 |
rs104894204
|
Entrez Id: |
8048 |
Gene Symbol: |
CSRP3 |
CSRP3
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs104894205
|
Entrez Id: |
8048 |
Gene Symbol: |
CSRP3 |
CSRP3
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs104894205
|
Entrez Id: |
8048 |
Gene Symbol: |
CSRP3 |
CSRP3
|
CARDIOMYOPATHY, DILATED, 1M
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs761507504
|
Entrez Id: |
8048 |
Gene Symbol: |
CSRP3 |
CSRP3
|
CARDIOMYOPATHY, DILATED, 1M
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.
|
25351510 |
2015 |
rs761507504
|
Entrez Id: |
8048 |
Gene Symbol: |
CSRP3 |
CSRP3
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.
|
25351510 |
2015 |
rs761507504
|
Entrez Id: |
8048 |
Gene Symbol: |
CSRP3 |
CSRP3
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.
|
23396983 |
2013 |
rs761507504
|
Entrez Id: |
8048 |
Gene Symbol: |
CSRP3 |
CSRP3
|
CARDIOMYOPATHY, DILATED, 1M
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.
|
23396983 |
2013 |
rs104894205
|
Entrez Id: |
8048 |
Gene Symbol: |
CSRP3 |
CSRP3
|
CARDIOMYOPATHY, DILATED, 1M
|
G |
0.700 |
GeneticVariation |
CLINVAR |
High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort.
|
22429680 |
2012 |
rs104894205
|
Entrez Id: |
8048 |
Gene Symbol: |
CSRP3 |
CSRP3
|
CARDIOMYOPATHY, DILATED, 1M
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.
|
18505755 |
2008 |
rs104894205
|
Entrez Id: |
8048 |
Gene Symbol: |
CSRP3 |
CSRP3
|
CARDIOMYOPATHY, DILATED, 1M
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin.
|
16352453 |
2006 |
rs142019584
|
Entrez Id: |
8048 |
Gene Symbol: |
CSRP3 |
CSRP3
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1565050320
|
Entrez Id: |
8048 |
Gene Symbol: |
CSRP3 |
CSRP3
|
Cardiomyopathy, Dilated
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1565050709
|
Entrez Id: |
8048 |
Gene Symbol: |
CSRP3 |
CSRP3
|
Cardiomyopathies
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1565053085
|
Entrez Id: |
8048 |
Gene Symbol: |
CSRP3 |
CSRP3
|
Cardiomyopathy, Dilated
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1565053147
|
Entrez Id: |
8048 |
Gene Symbol: |
CSRP3 |
CSRP3
|
Cardiomyopathy, Dilated
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs193922667
|
Entrez Id: |
8048 |
Gene Symbol: |
CSRP3 |
CSRP3
|
Cardiomyopathies
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs281865416
|
Entrez Id: |
8048 |
Gene Symbol: |
CSRP3 |
CSRP3
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
|
CCCCT |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs876657767
|
Entrez Id: |
8048 |
Gene Symbol: |
CSRP3 |
CSRP3
|
Cardiomyopathy, Dilated
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs902082118
|
Entrez Id: |
8048 |
Gene Symbol: |
CSRP3 |
CSRP3
|
Cardiomyopathies
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|