ACMG/AMP	American College of Medical Genetics and Genomics/Association for Molecular Pathology
AD	Autosomal dominant
AR	Autosomal recessive
ART	Assisted reproductive technologies
AUA/ASRM	American Urological Association/American Society for Reproductive Medicine
AZF	Azoospermia factor
CBAVD	Congenital bilateral absence of the vas deferens
CHH	Congenital hypogonadotropic hypogonadism
CI	Confidence interval
ClinGen	Clinical Genome Resource
CNV	Copy-number variant
CRISPR/Cas9	Clustered regularly interspaced short palindromic repeats/CRISPR-associated protein 9
DNA	Deoxyribonucleic acid
DSB	DNA double-strand break
FSH	Follicle-stimulating hormone
GDR	Gene-disease relationship
gnomAD	Genome Aggregation Database
GnRH	Gonadotropin-releasing hormone
ICSI	Intracytoplasmic sperm injection
IMIGC	International Male Infertility Genomics Consortium
LOEUF	Loss-of-function observed/expected upper bound fraction
LRS	Long-read sequencing
Micro-TESE	Microdissection testicular sperm extraction
MMAF	Multiple morphological abnormalities of the sperm flagella
NGS	Next-generation sequencing
NOA	Non-obstructive azoospermia
OA	Obstructive azoospermia
OMIM	Online Mendelian Inheritance in Man
PCR	Polymerase chain reaction
pLI	Probability of loss-of-function intolerance
SNV	Single-nucleotide variant
STS-PCR	Sequence-tagged site polymerase chain reaction
TESE	Testicular sperm extraction
VUS	Variant of uncertain significance
WES	Whole-exome sequencing
WGS	Whole-genome sequencing
XL	X-linked