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How can gene variants affect health and development?
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Mutationsanddisorders

How can gene variants affect health and development?

Gene variants can alter or eliminate protein function, disrupting development and leading to genetic disorders.

Overview

Each cell relies on thousands of proteins to perform specific tasks at precise times and locations. When a gene variant (also called a mutation) changes the instructions for making a protein, the resulting protein may malfunction or fail to be produced. If the affected protein plays a critical role in the body, normal development can be disrupted or a health condition may arise. A condition caused by variants in one or more genes is termed a genetic disorder.

Impact of Severe Variants

Some gene variants are so severe that they prevent an embryo from surviving to birth. These changes occur in genes essential for early development and typically disrupt embryonic formation at its earliest stages. Because the effects are extremely serious, such variants are considered incompatible with life.

Clarifying Common Misconceptions

It is important to understand that genes themselves do not cause disease; rather, genetic disorders result from variants that alter or eliminate a gene’s function. For example, when people refer to someone having “the cystic fibrosis gene,” they are usually describing a version of the CFTR gene that contains a disease‑causing variant. Everyone, including individuals without cystic fibrosis, possesses a version of the CFTR gene.

Further Resources

The National Human Genome Research Institute (NHGRI) offers an introduction to genomics.

The Centers for Disease Control and Prevention (CDC) provides basic genetic concepts.

The Centre for Genetics Education offers a fact sheet about genetic changes.

Topics in the “Variants and Health” Chapter

  • What is a gene variant and how do variants occur?
  • How can gene variants affect health and development?
  • Do all gene variants affect health and development?
  • What kinds of gene variants are possible?
  • Can a change in the number of genes affect health and development?
  • Can changes in the number of chromosomes affect health and development?
  • Can changes in the structure of chromosomes affect health and development?
  • Can changes in noncoding DNA affect health and development?
  • Can changes in mitochondrial DNA affect health and development?
  • What are complex or multifactorial disorders?
  • What does it mean to have a genetic predisposition to a disease?
  • How are gene variants involved in evolution?
  • What information can statistics provide about a genetic condition?
  • How are genetic conditions and genes named?

Related Content

Other chapters in “Help Me Understand Genetics.”p>

Frequently Asked Questions

sk your genetic counselor to compare your variant with databases such as ClinVar or gnomAD, which list known disease associations and population frequencies. If the variant is classified as pathogenic or likely pathogenic, it is considered harmful. If it is benign or a VUS, the risk to offspring is lower, but confirm with a reproductive specialist.
variant of uncertain significance (VUS) is a change in DNA whose impact on health is not yet clear. It does not automatically mean you have a disease. Follow up with your healthcare provider to discuss whether additional family testing, functional studies, or periodic monitoring is recommended. Keep the result in your medical record and update it if new research reclassifies the variant.
Yes. Some variants lead to late‑onset disorders such as Huntington’s disease or certain cancers. These variants may not affect you until later in life, but they can still be inherited by your children. Discuss surveillance strategies and preventive measures with your clinician.
Contact your pediatrician or a newborn genetics specialist promptly. They will order confirmatory diagnostic tests, discuss treatment options, and arrange follow‑up care. Early intervention can improve outcomes for conditions like cystic fibrosis, phenylketonuria, or metabolic disorders.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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