ACMG	American College of Medical Genetics and Genomics
AD	Autosomal dominant
AR	Autosomal recessive
ASD	Atrial septal defect
CO	Cryptorchidism
CFD	Craniofacial dysmorphism
DSPc	Dual-Specificity Phosphatase, catalytic domain
FH	Familial hypercholesterolemia
GDP	Guanosine diphosphate
GTP	Guanosine triphosphate
HCM	Hypertrophic cardiomyopathy
HGMD	Human Gene Mutation Database
HGVS	Human Genome Variation Society
ID	Intellectual disability
LVNC	Left ventricular non-compaction cardiomyopathy
MAPK	Mitogen-activated protein kinase pathway
NGS	Next-generation sequencing
NS	Noonan syndrome
NSML	Noonan syndrome with multiple lentigines, formerly known as LEOPARD syndrome
OMIM	Online Mendelian Inheritance in Man
OS	Ostium secundum
PCR-RFLP	Polymerase Chain Reaction–Restriction Fragment Length Polymorphism
PDA	Patent ductus arteriosus
PH	Pulmonary hypertension
PTPN11	Protein Tyrosine Phosphatase, Non-Receptor Type 11
PVS	Pulmonary valve stenosis
RAS/MAPK	Rat Sarcoma-/Mitogen-Activated Protein Kinase
RBBB	Right bundle branch block
STJ	Sinotubular junction
VUS	Variant of uncertain significance