Skip to main content
. 2026 May 30;27(11):4985. doi: 10.3390/ijms27114985
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