Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516248
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

dbSNP: rs397516248
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

dbSNP: rs397516248
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

dbSNP: rs397516248
rs397516248
Cardiomyopathy, Hypertrophic, Familial
T 0.700 CausalMutation CLINVAR A rare mutation in MYH7 gene occurs with overlapping phenotype. 25576864

2015

dbSNP: rs397516248
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

dbSNP: rs397516248
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

dbSNP: rs397516248
rs397516248
Cardiomyopathy, Hypertrophic, Familial
T 0.700 CausalMutation CLINVAR 165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands. 19477645

2009