| NGS | Next Generation Sequencing |
| DCG | Disease-causing gene |
| ACMG | American College of Medical Genetics |
| AMP | Association for Molecular Pathology |
| VUS | Variant of uncertain significance |
| NF1 | Neurofibromatosis type 1 |
| GAP | GTPase activating protein |
| CI | Variant with Conflicting Interpretation |
| LOVD | Leiden Open Variation Database |
| HGMD | Human Gene Mutation Database |