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Beginning August 1, 2023, the University of Utah Department of Pathology and ARUP Laboratories will no longer host these mutation databases. Our clinical variant data will be consolidated and shared with free publicly accessible databases such as ClinVar. For any questions or concerns related to the removal of this database from our website, please click here and one of our molecular genetics medical directors will review your submission and get back to you.
Mutation Databases
The University of Utah Department of Pathology and ARUP Laboratories hosts a growing number of human gene variant-disease database collections.
Each database relies on both medical and molecular expertise, and uniquely displays sequence variation and clinical information together.
- ACVRL1 Database
- ALPORT (COL4A5)
- Biotinidase Deficiency (BTD)
- BRCA Database - Home
- ENG Database
- Galactosemia (GALT)
- Juvenile Polyposis Syndrome (SMAD4)
- Legius Syndrome (SPRED1)
- Multiple Endocrine Neoplasia type 2 (RET)
- Primary Carnitine Deficiency (SLC22A5)
- Pulmonary Arterial Hypertension (BMPR2)
- RASA1-related disorders