ACMG	American College of Medical Genetics and Genomics
AI	Artificial intelligence
ASD	Autism spectrum disorder
CADD	Combined Annotation Dependent Depletion
CNV	Copy number variant
DL	Deep learning
DSM-5	Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition
EVE	Evolutionary Model of Variant Effect
HPO	Human Phenotype Ontology
ID	Intellectual disability
ipTM	Interface predicted template modeling score
MAVE	Multiplexed assays of variant effect
ML	Machine learning
MSA	Multiple sequence alignments
NDD	Neurodevelopmental disorder
NGS	Next-generation sequencing
NMD	Nonsense-mediated decay
ORVAL	Oligogenic Resource for Variant AnaLysis
PAE	Predicted Aligned Error
pLDDT	Predicted Local Distance Difference Test
pTM	Predicted Template Modeling score
S2F	Sequence-to-function
REVEL	Rare Exome Variant Ensemble Learner
RMSD	Root-Mean-Square Deviation
WES	Whole exome sequencing