Research use

For research use only. Not for use in diagnostic procedures.

What this tool does

VarInsight resolves what you type into a canonical variant, queries public registries, and shows what each one holds with a link to the record it came from. That is the whole of it. It is a faster way to read ClinVar, gnomAD and Europe PMC, not a different way.

What it does not do

It does not classify variants. It does not score, rank, weigh or reconcile the assertions it displays. When several ClinVar submitters disagree, you see the disagreement rather than a verdict, because the disagreement is the finding and choosing between them would be an interpretation this tool has no basis to make.

Nothing shown here is generated. Every classification is quoted from the registry that published it, in that registry's own words, beside a link to the submission. If a statement appears without a source link, that is a bug — please report it.

Gene constraint in particular

The constraint figures describe a gene as observed across a reference population. They say how depleted that gene is of loss-of-function variation in gnomAD. They are not a statement about the variant you entered, and a constrained gene does not make a variant in it damaging.

The words on a result

A result is written in the registries' own vocabulary, because paraphrasing an assertion is how a tool ends up reporting something nobody said. Every one of those terms is underlined on the result and carries a plain-English definition — hover it, tap it, or turn them all on in place with the switch above the result. The glossary lists them all, and every export carries the definitions for the terms it uses. Those definitions explain the vocabulary and link to the published definition they restate; none of them is a statement about the variant you looked up.

Before you rely on anything here

Open the source record. Registry content changes, this tool caches nothing, and the linked record is authoritative in a way that a rendering of it is not. Check the genome build shown on the result matches the build your coordinates are in — the same variant sits at different positions on GRCh37 and GRCh38, and both are valid positions.

Clinical decisions

Clinical interpretation of a variant requires the patient's phenotype, family history, inheritance pattern, and the judgement of a qualified professional working to an established framework such as the ACMG/AMP guidelines. None of that is present here.

If this is your own genetic data

Speak to a licensed clinician or a certified genetic counsellor before making any health decision based on what you read here.

This tool is built for people who read registries professionally, and it will happily show you a variant labelled pathogenic without any of the context that determines whether that label means anything for you. A classification in ClinVar describes a variant, not a person. Whether it matters in your case depends on your family history, the rest of your genome, how the variant was called in the first place, and how strong the evidence behind that submission actually is — none of which is on this page.

A genetic counsellor is the professional whose job is exactly this conversation. In the UK, ask your GP for a referral to clinical genetics; in the US, the National Society of Genetic Counselors maintains a public directory. Take the variant and the linked source records with you — they are more useful to a clinician than a screenshot.