| ACMG | American College of Medical Genetics |
| AD | Autosomal dominant |
| AR | Autosomal recessive |
| ASARM | Acidic, serine– and aspartate-rich motif |
| BP | Base pair |
| cNLS | Classical NLS |
| dB | Decibels |
| DNA | Deoxyribonucleic acid |
| GWAS | Genome-wide association study |
| HL | Hearing loss |
| Imp-α | Importin-α |
| Imp-β | Importin-β |
| KPNA7 | Karyopherin subunit α7 |
| LOD | Logarithm of odds |
| MAF | Minor allele frequency |
| ncNLS | Non-classical NLS |
| NL | Newfoundland and Labrador |
| NLS | Nuclear localization signal |
| OPG | Osteoprotegerin |
| OTSC | Otosclerosis genes/loci |
| PREMBA | Preimplantation embryo arrest |
| PTHrP | Parathyroid hormone-related protein |
| RANK | Receptor activator of nuclear factor Kβ |
| RANKL | Receptor activator of nuclear factor Kβ ligand |
| SNP | Single-nucleotide polymorphism |
| VUS | Variant of uncertain significance |
| WES | Whole exome sequencing |