Shown below are missense variants annotated as Pathogenic or Likely Pathogenic in ClinVar found at the equivalent amino acid residue of other members of the protein family by Paralogue Annotation.
The ClinVar version used is 20250623.
Paralogue Annotation utilizes information from evolutionarily related proteins, specifically paralogues, to help inform the clinical significance of missense variants associated with human diseases.
You can download the data here
Download all possible amino acid substitutions on all paralogous genes annotated by PARALOG Annotator for all possible missiense variants.
All data mapped to GRCh37 reference genome