Genetics University — Research, Education, Medical Genetics

Knowledge Hub

Genes and variants

Reference entries for all genes from the institutional reference table — with chromosome, a plain-language explanation and the listed variants. Search by gene symbol, name, chromosome or rsID/SNP.

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Clinically annotated variants

Browse variants by type

These variants come from the institutional reference table. Clinical significance and variant type are reproduced exactly as recorded there (ClinVar terminology). Filter by pathogenic, likely pathogenic, uncertain significance, benign, drug response and further categories, or by molecular variant type.

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GenersIDClinical significanceVariant typePhenotypes
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Classifications come from the reference table and may change in public databases. They are educational and do not substitute for clinical assessment or genetic counselling.

Variant cards

Clinical interpretation cards

Infographic guides for individual genes and variants, organised by gene and selected variants. Search by gene symbol, variant or rsID (SNP).

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