G2P is a publicly-accessible online system designed to facilitate the development, validation, curation and distribution of large-scale, evidence-based datasets for use in diagnostic variant filtering. Each G2P entry associates an allelic requirement and a mutational consequence at a defined locus with a disease entity. A confidence level and evidence link are assigned to each entry.


Cancer Panel

DD Panel

Eye Panel

Skin Panel

Cardiac Panel

Skeletal Panel


Citing Gene2Phenotype

If you have used Gene2Phenotype in your work please cite the website and the most recent article