| Code | Display | Definition |
| associated-therapy | Associated Therapy | The non-medication therapy (procedure) associated with this implication. |
| molecular-consequence | Molecular Consequence | The calculated or observed effect of a DNA variant on its downstream transcript and, if applicable, ensuing protein sequence. |
| feature-consequence | Feature Consequence | The structural implications of a variant (e.g. the variant disrupts a regulatory region, the variant is an inframe insertion). |
| diagnostic-implication | Diagnostic Implication | An observation linking a genomic finding with a knowledge base, providing context that may aid in diagnosing a patient with a particular phenotype or condition. |
| therapeutic-implication | Therapeutic Implication | An observation linking a genomic finding with a knowledge base, providing potential evidence of an interaction with a specified medication or non-medicinal therapy. Ramifications may include alterations in drug metabolism (or pharmacokinetics) that determine the concentration of the drug, prodrug, and/or break-down products over time; alterations in drug efficacy (or pharmacodynamics) that determine how effective a drug is at a given concentration; alterations that alter the risk of adverse drug events, or other types of implications that indicate altered responsiveness to other types of therapies. |
| functional-effect | Functional Effect | The effect of a variant on downstream biological products or pathways (from Sequence Ontology). |
| conclusion-string | Conclusion Text | Clinical conclusion (interpretation) of the observation. |
| condition-inheritance | Condition Inheritance | The transmission pattern of the condition/phenotype in a pedigree. |
| variant-confidence-status | Variant Confidence Status | The confidence of a true positive variant call. |
| repeat-motif | Repeat Expansion Motif | Nucleotides of a repeat expansion motif. |
| repeat-number | Number of Repeat Expansions | Number of repeats of a repeat expansion. |
| biomarker-category | A characterization of a given biomarker observation. | |
| protein-ref-seq | An identifier for the protein reference sequence. | |