A: The variant NC_000022.11:g.41177200GGA[1] in gene EP300 is classified as 'Pathogenic' for Menke-Hennekam_syndrome_2. Molecular consequence: SO:0001822: inframe_deletion. Variant type: Microsatellite. Disease database links: MONDO:MONDO:0020769,MedGen:C5193035,OMIM:618333. Review status: no assertion criteria provided.