Gene ID Description Disorders/Phenotypes Gene ID Description Disorders/Phenotypes
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 Dilated Cardiomyopathy DSG2 Desmoglein 2 Arrhythmogenic right ventricular Cardiomyopathy
CASQ2 Calsequestrin 2 (cardiac muscle) Catecholaminergic polymorphic ventricular tachycardia DSP Desmoplakin Dilated Cardiomyopathy, Arrhythmogenic right ventricular Cardiomyopathy
CAV3 Caveolin 3 Hypertrophic Cardiomyopathy LMNA Laminin, alpha 1 Dilated Cardiomyopathy
COX15 cytochrome c oxidase assembly protein (yeast) Hypertrophic Cardiomyopathy MYBPC3 Myosin binding protein C, cardiac Hypertrophic Cardiomyopathy
DES Desmin Dilated Cardiomyopathy MYH7 Myosin, heavy chain 7, cardiac muscle, beta Hypertrophic Cardiomyopathy
DMD Dystrophin Dilated Cardiomyopathy MYL2 Myosin light chain 2, regulatory ventricular Hypertrophic Cardiomyopathy
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19 Dilated Cardiomyopathy with ataxia syndrome MYL3 Myosin light chain, alkali; ventricular and skeletal slow Hypertrophic Cardiomyopathy
DSC2 Desmocollin 2 Arrhythmogenic right ventricular Cardiomyopathy PKP2 Plakophilin 2 Arrhythmogenic right ventricular dysplasia/cardiomyopathy
      TNNT2 Troponin T2, Cardiac Hypertrophic Cardiomyopathy
Table 1: The genes with splice site mutations in cardiomyopathy.