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. 2020 Dec 7;10(12):1061. doi: 10.3390/diagnostics10121061
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