Genome Allele Amino Acid Autosome Base Pair Chromosome Copy Number Variation Deoxyribonucleic Acid (DNA) Double Helix Epigenetics Epigenome Exon Gene Gene Expression Genetics Genotype Germ Line Genomics Haplotype Heterozygous Homologous Recombination Homozygous Intron Karyotype Locus Loss of Heterozygosity (LOH) Methylation Microbiome Microsatellite Microsatellite Instability (MSI) Mosaicism Nucleotide Pedigree Promoter Protein Pseudogene Ribonucleic Acid (RNA) Telomere Tumor Suppressor Gene Variable Expressivity Wild-type gene Subcategory: Clinical Genomics Cascade Genetic Testing Penetrance Pathognomic Precision Medicine Pharmacogenomics Phenocopy Phenotype
Autosomal Dominant Autosomal Recessive First Degree Relative Mitochondrial Second Degree Relative Third Degree Relative X-Linked Dominant X-Linked Recessive Subcategory: Family History Consanguinity Founder Effect Pedigree Proband
Susceptibility Biomarker Diagnostic Biomarker Monitoring Biomarker Prognostic Biomarker Predictive Biomarker Pharmacodynamic Biomarker Safety Biomarker
Carrier Cell Free DNA Cytogenetics DNA Sequencing Fluorescence in situ hybridization (FISH) Germline Testing Immunohistochemistry (IHC) Karyotype Liquid Biopsy Multi-Gene Panel Testing Multiplex ligation-dependent probe amplification Next-Generation Sequencing (NGS) Polygenic Risk Score Sanger Sequencing Somatic Testing Somatic and Germline Paired Testing Variant Allele Frequency (VAF) Whole Exome Sequencing Whole Genomic Sequencing
De Novo Variant Deletion Duplication Frameshift Insertion Large Genomic Rearrangements Microsatellite Instability (MSI) Missense Nonsense Point Variant Polymorphism Single Nucleotide Polymorphism (SNP) Single Nucleotide Variant Substitution
Subcategory: Chromosomal Rearrangement Inversion Deletion Duplication Numerical Translocation
Germline Variant Classification Deleterious Pathogenic Variant Likely Pathogenic Variant Variant of Uncertain Significance Likely Benign Variant Benign Variant
Somatic Variants Somatic Driver Variants Passenger Variants Copy Number Variation
Somatic Variant Classification (based on actionability) Tier I Tier II Tier III Tier IV
Anticipatable Discovery Finding Secondary Finding Secondary Genomic Finding Unanticipatable