| ACMG | American College of Medical Genetics |
| ADHD | Attention-deficit/hyperactivity disorder |
| ASD | Directory of open access journals |
| IGV | Integrative Genomics Viewer |
| NDD | Neurodevelopmental disorder |
| NICD | NOTCH intracellular domain |
| ODD | Oppositional defiant disorder |
| RMSD | Root mean square deviation |
| UPS | Ubiquitin–proteasome system |
| VUS | Variant of uncertain significance |
| WES | Whole exome sequencing |