App Store
Version 3.0.0 · 2026-08-18
- Variant Review! Search a gene or a specific variant, and learn what is known and predicted regarding its pathogenicity. Known clinical significance from ClinVar with review-confidence stars, population frequency from gnomAD, and computed pathogenicity (REVEL, AlphaMissense, CADD). You can also simply search a gene symbol to browse all of its pathogenic and likely-pathogenic variants. Each variant includes an "About this gene" summary of normal function and an interactive 3D protein structure (AlphaFold) with the variant residue highlighted. Improvements and fixes - Refined sudden-cardiac-death risk guidance for HCM, DSP, and PLN, with corrected ICD thresholds and clearer alerts when an…
Shortened here; the full notes are on the store listing.








