A: The variant NC_000022.11:g.41157167A>G in gene EP300 is classified as 'Pathogenic/Likely_pathogenic' for CHARGE_syndrome|Rubinstein-Taybi_syndrome_due_to_CREBBP_mutations. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0008965,MedGen:C0265354,OMIM:214800,Orphanet:138|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783. Review status: no assertion criteria provided.