| ASD | Autism spectrum disorder |
| ADHD | Attention-deficit hyperactivity disorder |
| BP1-BP2 | Breakpoint 1–Breakpoint 2 |
| CHD | Congenital heart disease |
| DECIPHER | DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources |
| GTEx | Gene-Tissue Expression Project |
| OMIM | Online Mendelian Inheritance in Man |
| POE | Parent-of-origin effect |
| VOUS | Variant of uncertain (clinical) significance |
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