| ACMG | American College of Medical Genetics and Genomics |
| ACTA1 | Actin alpha skeletal muscle |
| ACTC1 | Actin alpha cardiac muscle 1 |
| ACTN2 | Actinin alpha 2 |
| ANKRD1 | Ankyrin repeat domain-containing protein 1 |
| AMP | Association for Molecular Pathology |
| B | benign |
| BRAF | Serine/threonine-protein kinase B-raf |
| BWA-MEM | Burrows-Wheeler Aligner-Maximal Exact Match |
| CALR3 | Calreticulin 3 |
| CASQ2 | Calsequestrin 2 |
| CAV3 | Caveolin-3 |
| COX15 | Cytochrome c oxidase assembly protein COX15 homolog |
| CRYAB | Alpha-crystallin B chain |
| CSRP3 | Cysteine and glycine-rich protein 3 |
| DES | Desmin |
| DNA | deoxyribonucleic acid |
| ESC | European Society of Cardiology |
| FHL1 | Four and a half LIM domains protein 1 |
| FXN | Frataxin |
| GAA | Lysosomal alpha-glucosidase |
| GATK | Genome Analysis Toolkit |
| GLA | Alpha-galactosidase A |
| HCM | hypertrophic cardiomyopathy |
| HGMD | Human Gene Mutation Database |
| JPH2 | Junctophilin-2 |
| KLF10 | Krueppel-like factor 10 |
| LAMP2 | Lysosome-associated membrane glycoprotein 2 |
| LB | likely benign |
| LDB3 | LIM domain-binding protein 3 |
| LP | likely pathogenic |
| LV | left ventricle |
| LVH | left ventricular hypertrophy |
| MAP2K1 | Dual specificity mitogen-activated protein kinase kinase 1 |
| MAP2K2 | Dual specificity mitogen-activated protein kinase kinase 2 |
| mtDNA | mitochondrial DNA |
| MYBPC3 | cardiac myosin binding protein C |
| MYH6 | Myosin heavy chain 6 |
| MYH7 | β-myosin heavy chain |
| MYL2 | Myosin regulatory light chain 2 |
| MYL3 | Myosin light chain 3 |
| MYLK2 | Myosin light chain kinase 2 |
| MYO6 | Myosin-VI |
| MYOZ2 | Myozenin-2 |
| MYPN | Myopalladin |
| NEXN | Nexilin |
| NGS | next generation sequencing |
| P | pathogenic |
| PDLIM3 | PDZ and LIM domain protein 3 |
| PLN | Cardiac phospholamban |
| PRKAG2 | 5′-AMP-activated protein kinase subunit gamma-2 |
| PTPN11 | Tyrosine-protein phosphatase non-receptor type 11 |
| RAF1 | RAF proto-oncogene serine/threonine-protein kinase |
| SLC25A4 | ADP/ATP translocase 1 |
| SOS1 | Son of sevenless homolog 1 |
| TCAP | Telethonin |
| TNNC | Troponin C |
| TNNI3 | Troponin I |
| TNNT2 | Troponin T |
| TPM1 | Tropomyosin alpha-1 chain |
| TRIM63 | E3 ubiquitin-protein ligase TRIM63 |
| TTN | Titin |
| VCF | variant call format |
| VCL | vinculin |
| VUS | variant of uncertain significance |