| HNF1B | Hepatocyte Nuclear Factor 1-Beta |
| CAKUT | Congenital Anomalies of the Kidney and Urinary Tract |
| CKD | Chronic Kidney Disease |
| CNV | Copy-Number Variant |
| eGFR | Estimated Glomerular Filtration Rate |
| HSPN | Hellenic Society of Pediatric Nephrology |
| MLPA | Multiplex Ligation-Dependent Probe Amplification |
| MODY5 | Maturity-Onset Diabetes of the Young Type 5 |
| NGS | Next-Generation Sequencing |
| VUS | Variant of Uncertain Significance |
| WES | Whole-Exome Sequencing |