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 |