rs121912992
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
rs121912992
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
rs121912992
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
rs121912992
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs141026028
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Korean Monozygotic Twins with Lethal Acantholytic Epidermolysis Bullosa Caused by Two Novel DSP Mutations.
|
28442525 |
2017 |
rs141026028
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation.
|
28527814 |
2017 |
rs141026028
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs1554108859
|
|
TA |
0.700 |
CausalMutation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs1561701401
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs1561702640
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation.
|
28527814 |
2017 |
rs1561703363
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation.
|
28527814 |
2017 |
rs1561704475
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation.
|
28527814 |
2017 |
rs34738426
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
rs794728137
|
|
AG |
0.700 |
CausalMutation |
CLINVAR |
Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation.
|
28527814 |
2017 |
rs140474226
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.
|
27831900 |
2016 |
rs1554106742
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies.
|
26735901 |
2016 |
rs1057517903
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy.
|
25227139 |
2015 |
rs113726158
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy.
|
25227139 |
2015 |
rs1236464864
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members.
|
25820315 |
2015 |
rs1554106830
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy.
|
25227139 |
2015 |
rs1554107741
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy.
|
25227139 |
2015 |
rs34738426
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
rs794728124
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers.
|
25616645 |
2015 |
rs794728137
|
|
AG |
0.700 |
CausalMutation |
CLINVAR |
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.
|
26187847 |
2015 |
rs1057517903
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
|
24503780 |
2014 |