A: The variant NC_000022.11:g.41178822T>A in gene EP300 is classified as 'Likely_pathogenic' for Menke-Hennekam_syndrome_2. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0020769,MedGen:C5193035,OMIM:618333. Review status: criteria provided, single submitter.