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Condition caused by a genetic variant in a particular gene.

Use in clinical context

The majority of conditions and diseases are the result of multiple genetic and environmental factors. There are, however, some conditions that are the direct result of a genetic variant in a single gene. Examples include cystic fibrosis, where individuals with two copies of a recessive variant in the CFTR gene develop the condition, and Huntington disease where only a single variant of the HTT gene will lead to the disease.

Last updated on 2nd November, 2020