KIT Gene Mutations: Linked Conditions and Clinical Trials
The KIT gene sits on chromosome 4q12, and its full name is KIT proto-oncogene, receptor tyrosine kinase. Orphanet links KIT to 18 rare conditions and lists variants in the gene as a cause of 16 of them. Trial Friend's Mastocytosis, Systemic Mastocytosis and Gastrointestinal Stromal Tumor pages list KIT among the genes behind each condition. As of September 29, 2026, 14 recruiting or soon-opening trials on ClinicalTrials.gov name KIT as a gene.
Other symbols for KIT in gene databases: C-Kit, CD117, SCFR.
What the KIT gene does
KIT makes a receptor on the surface of certain cells that switches on when a protein called stem cell factor attaches to it. Its signals control cell growth, division, survival and movement.
Summarized from the KIT page on MedlinePlus Genetics, U.S. National Library of Medicine, checked September 29, 2026.
Conditions linked to KIT on Trial Friend
These condition pages list KIT among the genes behind the condition, checked against genetics references when each page was written.
Most systemic mastocytosis carries an acquired (somatic) activating KIT variant tested in blood or bone marrow; it is not inherited. Additional somatic variants (e.g. TET2, SRSF2, ASXL1, RUNX1) mark more aggressive disease.
Most cases carry a somatic activating KIT variant (usually D816V) in mast cells; additional somatic changes in TET2, SRSF2, ASXL1, RUNX1 or DNMT3A mark more aggressive disease.
About 80% of GISTs carry a somatic KIT mutation and 10% PDGFRA; SDH-deficient GIST (under 10%) can reflect a germline SDHx variant, and rare familial KIT/PDGFRA GIST is autosomal dominant.
KIT mutation clinical trials
These recruiting or soon-opening trials mention KIT as a gene in their title, summary, eligibility rules or keywords. Some want people with a variant in it, and others study it more broadly, which is why each trial's own words are shown. In cancer trials the gene change is usually one found in the tumor rather than one a person inherited.
14 trials, checked September 29, 2026. The list refreshes from ClinicalTrials.gov every few hours.
All conditions linked to KIT gene mutations
Orphanet records how each gene relates to each condition. Orphanet links KIT to 18 rare conditions and lists variants in the gene as a cause of 16 of them.
- Causes it. Disease-causing variants in this gene are a direct cause of the condition.
- Causes it, acquired. Variants that arise during life in the tumor or affected cells cause the condition. They are not inherited.
- Tested as a marker. The gene is tested to help diagnose or classify the condition rather than as its cause.
KIT genetic test results and what a variant can mean
Labs sort each variant they find into 5 groups, from pathogenic and likely pathogenic through uncertain significance to likely benign and benign. Only the first 2 are usually treated as the cause of a condition. A variant of uncertain significance, or VUS, is one without enough evidence either way yet, and labs can reclassify it as research builds.
A genetic counselor or your doctor can explain what a specific result means for you and your family. Our genetic testing guide covers the terms, and MedlinePlus Genetics from the National Library of Medicine has a plain-language page on KIT.
KIT gene questions
What does the KIT gene do?
KIT makes a receptor on the surface of certain cells that switches on when a protein called stem cell factor attaches to it. Its signals control cell growth, division, survival and movement. This summary follows MedlinePlus Genetics from the U.S. National Library of Medicine.
Are there clinical trials for people with KIT gene variants?
As of September 29, 2026, 14 recruiting or soon-opening trials on ClinicalTrials.gov name KIT as a gene. Each one is listed on this page with the words from the trial that mention the gene. ClinicalTrials.gov also lists 21 open trials for Mastocytosis, 13 for Systemic Mastocytosis and 66 for Gastrointestinal Stromal Tumor, and Match Me on Trial Friend can check those against age, sex, location and treatment history.
What conditions are linked to the KIT gene?
Orphanet links KIT to 18 rare conditions and lists variants in the gene as a cause of 16 of them. They include Bullous diffuse cutaneous mastocytosis, Gastrointestinal stromal tumor, Isolated bone marrow mastocytosis, Pseudoxanthomatous diffuse cutaneous mastocytosis, Smoldering systemic mastocytosis, Systemic mastocytosis with associated hematologic neoplasm and 12 more. Orphanet is the European rare disease database run by INSERM in Paris.
Is Mastocytosis inherited?
Most systemic mastocytosis carries an acquired (somatic) activating KIT variant tested in blood or bone marrow; it is not inherited. Additional somatic variants (e.g. TET2, SRSF2, ASXL1, RUNX1) mark more aggressive disease.
Is Systemic Mastocytosis inherited?
Most cases carry a somatic activating KIT variant (usually D816V) in mast cells; additional somatic changes in TET2, SRSF2, ASXL1, RUNX1 or DNMT3A mark more aggressive disease.
What does a KIT variant of uncertain significance mean?
A variant of uncertain significance, or VUS, is a change in the gene that labs don't yet have enough evidence to call disease-causing or harmless. It is not used on its own to diagnose a condition, and labs can reclassify it as research builds. A genetic counselor can explain what a specific result means for you and your family.
Sources
- Gene and condition links from Orphadata (Orphanet, INSERM US14), used under CC BY 4.0, read September 29, 2026.
- Trials from ClinicalTrials.gov, read September 29, 2026.
- KIT gene, MedlinePlus Genetics, U.S. National Library of Medicine.
- Inheritance and gene notes from the Trial Friend condition pages above, each checked against genetics references.
Other gene pages
The gene search covers every gene Orphanet links to a rare disease.