Highlighted variants are selected mutations that stay visible on the Gene page even when they are not found in the uploaded DNA file. This makes it easier to check well-known positions without searching for them manually.
Why show absent variants?
For some review workflows, absence matters. A known pathogenic variant, pharmacogenetic marker, or commonly discussed mutation may be relevant to check even when the uploaded genome does not contain it. Highlighted variants keep those positions in view so the review is explicit.
How to use the section
Use highlighted variants as a checklist. If a highlighted variant is present, review its genotype, consequence, frequency, ClinVar status, and predictor scores. If it is absent, the page still records that the position was checked in the context of that gene.
Curation
Highlighted variants are curated manually. Good candidates are variants that are well-known, often requested, or useful for recurring review workflows. The section is not meant to include every variant in a gene.