Welcome to CiliaVar
Welcome to CiliaVar, the first dedicated open access gene variant database for the motile ciliopathy Primary Ciliary Dyskinesia (PCD).
This website is designed to support researchers, the general public, patients and their families by providing detailed, curated data on PCD-related gene variants.
We aim to enhance the understanding of PCD genetics and improve genetic diagnosis of PCD by classifying all known variants responsible for PCD, including published and clinical data.
CiliaVar has been developed as part of BEAT-PCD Work Package 2. More information is available here and on the BEAT-PCD website.
Purpose and appropriate use
CiliaVar is intended to serve as a valuable tool for the medical and scientific community, providing up-to-date information on genetic variants associated with PCD.
While researchers can utilise CiliaVar to explore the genetic underpinnings of PCD and better understand specific variants and combinations of variants, it is not designed for use as a standalone diagnostic tool or for making direct clinical or reproductive decisions. The interpretation of genetic variants can be complex and context-dependent.
The information contained within this database should not be used to self-diagnose or self-treat PCD or any related condition.
Users should always consult a qualified healthcare professional or genetic counsellor before making any medical decisions based on information from this site.
For patient information and support, we encourage users to visit the BEAT-PCD website, which provides extensive educational resources and community support for individuals and families affected by PCD. Further information for families is also available at: https://www.pcdfoundation.org/ and https://pcdsupport.org.uk/ .
Site Usage Agreement
CiliaVar is provided as an open-access resource to support understanding of the genetics of Primary Ciliary Dyskinesia (PCD). The content presented here is for informational and educational purposes only and should not replace professional medical advice or genetic counselling.
By continuing to use this website, you confirm that you have read and agree to the Privacy Policy and Legal Terms and Conditions governing the use of CiliaVar.