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. 2022 Oct 3;12(10):1417. doi: 10.3390/biom12101417
NGS Next-generation sequencing
VUS Variants of unknown significance
SCD Sudden cardiac death
HCM Hypertrophic cardiomyopathy
ACM Arrhythmogenic cardiomyopathy
DCM Dilated cardiomyopathy
LQTS Long QT syndrome
BrS Brugada syndrome
SQTS Short QT syndrome
CPVT Catecholaminergic polymorphic ventricular tachycardia
MYBPC3 Cardiac myosin binding protein 3
MYH7 β-myosin heavy chain
TNNT2 Cardiac troponin T
TNNI3 Cardiac troponin I
TPM1 α-tropomyosin
ACTC1 Cardiac α-actin
MYL2 Myosin regulatory light chain
MYL3 Myosin essential light chain
MYOZ2 Myozenin 2 gene
ACTN2 α-actinin-2
TTN Titin
MYOM1 Myomesin 1
ANKRD1 Cardiac ankyrin repeat protein 1
TCAP Telethonin
PKP2 Plakophilin
DSP Desmoplakin
DSC2 Desmocollin 2
DSG2 Desmoglein
TMEM43 Transmembrane protein 43
PLN Phospholamban
CDH2 Cadherin-2
CTNNA3 Catenin alpha 3
FLNC Filamin C
TJP1 Tight junction protein 1
ANK2 Ankyrin 2
TP63 Tumor protein P63
SCN10A sodium voltage-gated channel alpha subunit 10
CACNA1C Calcium voltage-gated channel subunit alpha1 c
ABCC9 ATP binding cassette subfamily c member 9
SCN1B Sodium voltage-gated channel beta subunit 1
KCNH2 Potassium voltage-gated channel subfamily h member 2
CACNB2 Calcium voltage-gated channel auxiliary subunit beta 2
TRPM4 Transient receptor potential cation channel subfamily m member 4
ANK3 Ankyrin 3
CACNA2D1 Calcium voltage-gated channel auxiliary subunit alpha2delta 1
FGF12 Fibroblast growth factor 12
GPD1L Glycerol-3-phosphate dehydrogenase 1 like
HCN4 Hyperpolarization activated cyclic nucleotide gated potassium channel 4
KCNQ1 Potassium voltage-gated channel subfamily q member 1
KCNH2 Potassium voltage-gated channel subfamily h member 2
SCN5A Sodium voltage-gated channel alpha subunit 5
AKAP9 a-Kinase anchoring protein 9
RYR2 Ryanodine receptor 2
CASQ2 Calsequestrin 2
CALM1 Calmodulin 1
CALM2 Calmodulin 2
CALM3 Calmodulin 3
KCNJ2 Potassium inwardly rectifying channel subfamily j member 2
TRDN Triadin
ACMG American College of Medical Genetics and Genomics
RAF1 RAF-1 proto-oncogene, serine/threonine kinase
LDLR Low-density lipoprotein receptor
GAA Glucosidase alpha, acid
LP Likely pathogenic
FHL1 Four and a half LIM domains 1
P Pathogenic
LP Likely pathogenic
B Benign
LB Likely benign
ESC European Society of Cardiology
AHA American Heart Association
ACC American College of Cardiology