A: The variant NC_000022.11:g.41152278_41152279insT in gene EP300 is classified as 'Pathogenic' for Rubinstein-Taybi_syndrome_due_to_CREBBP_mutations. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Insertion. Disease database links: MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783. Review status: criteria provided, single submitter.