Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913642
rs121913642
0.700 CausalMutation CLINVAR Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel. 29300372

2018

dbSNP: rs397516089
rs397516089
0.700 GeneticVariation CLINVAR Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel. 29300372

2018

dbSNP: rs397516248
rs397516248
0.700 GeneticVariation CLINVAR Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel. 29300372

2018

dbSNP: rs397516253
rs397516253
0.700 GeneticVariation CLINVAR Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel. 29300372

2018

dbSNP: rs397516254
rs397516254
0.700 GeneticVariation CLINVAR Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel. 29300372

2018

dbSNP: rs727503254
rs727503254
0.700 GeneticVariation CLINVAR Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel. 29300372

2018

dbSNP: rs397516142
rs397516142
0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017

dbSNP: rs727503253
rs727503253
0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017

dbSNP: rs727503253
rs727503253
0.700 CausalMutation CLINVAR Genetic Testing in Pediatric Left Ventricular Noncompaction. 29212898

2017

dbSNP: rs727503254
rs727503254
0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017

dbSNP: rs397516254
rs397516254
0.700 CausalMutation CLINVAR Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. 24664454

2015

dbSNP: rs397516254
rs397516254
0.700 CausalMutation CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780

2015

dbSNP: rs45544633
rs45544633
0.700 GeneticVariation CLINVAR Prognostic Relevance of Gene-Environment Interactions in Patients With Dilated Cardiomyopathy: Applying the MOGE(S) Classification. 26383716

2015

dbSNP: rs45544633
rs45544633
0.700 GeneticVariation CLINVAR The sarcomeric M-region: a molecular command center for diverse cellular processes. 25961035

2015

dbSNP: rs397516190
rs397516190
0.700 GeneticVariation CLINVAR Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation. 23956225

2014

dbSNP: rs45544633
rs45544633
0.700 GeneticVariation CLINVAR Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy. 24119082

2014

dbSNP: rs730880850
rs730880850
0.700 CausalMutation CLINVAR Interpreting secondary cardiac disease variants in an exome cohort. 23861362

2014

dbSNP: rs121913642
rs121913642
0.700 CausalMutation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266

2013

dbSNP: rs121913642
rs121913642
0.700 CausalMutation CLINVAR Elevated rates of force development and MgATP binding in F764L and S532P myosin mutations causing dilated cardiomyopathy. 23313350

2013

dbSNP: rs377491278
rs377491278
0.700 GeneticVariation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266

2013

dbSNP: rs397516123
rs397516123
0.700 GeneticVariation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266

2013

dbSNP: rs397516142
rs397516142
0.700 GeneticVariation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266

2013

dbSNP: rs397516190
rs397516190
0.700 GeneticVariation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266

2013

dbSNP: rs397516224
rs397516224
0.700 GeneticVariation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266

2013

dbSNP: rs397516252
rs397516252
0.700 GeneticVariation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266

2013