| ALT | Alanine transaminase |
| AST | Aspartate aminotransferase |
| BMI | Body mass index |
| CADD | Combined annotation-dependent depletion |
| CGL | Congenital generalized lipodystrophy |
| DEXA | Dual-energy X-ray absorptiometry |
| ELISA | Enzyme-linked immunoassay |
| FPLD | Familial partial lipodystrophy |
| GERP | Genomic evolutionary rate profiling |
| GnomAD | Genome aggregation database |
| HbA1c | Hemoglobin A1c |
| HDL-C | High-density lipoprotein concentration |
| HOMA-IR | Homeostatic model assessment of insulin resistance |
| LDL-C | Low-density lipoprotein concentration |
| MASLD | Metabolic dysfunction-associated steatotic liver disease |
| NIH | National Institutes of Health |
| PolyPhen | Polymorphism phenotyping |
| RIA | Radioimmunoassay |
| VUS | Variant of unknown significance |