The non-medication therapy (procedure) associated with this implication.

The calculated or observed effect of a DNA variant on its downstream transcript and, if applicable, ensuing protein sequence.

The structural implications of a variant (e.g. the variant disrupts a regulatory region, the variant is an inframe insertion).

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.

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.

The effect of a variant on downstream biological products or pathways (from Sequence Ontology).

Clinical conclusion (interpretation) of the observation.

The transmission pattern of the condition/phenotype in a pedigree.

The confidence of a true positive variant call.

Nucleotides of a repeat expansion motif.

Number of repeats of a repeat expansion.