A: The variant NC_000022.11:g.41152222_41152223del in gene EP300 is classified as 'Pathogenic' for Rubinstein-Taybi_syndrome. Molecular consequence: SO:0001587: nonsense. Variant type: Deletion. Disease database links: MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783. Review status: criteria provided, single submitter.