A: The variant NC_000022.11:g.41152347_41152348del in gene EP300 is classified as 'Likely_pathogenic' for Menke-Hennekam_syndrome_2. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0020769,MedGen:C5193035,OMIM:618333. Review status: no assertion criteria provided.