A: The variant NC_000022.11:g.41135903A>G in gene EP300 is classified as 'Likely_benign' for Thumb_deformity|Facial_grimacing|Global_developmental_delay|Feeding_difficulties|Micrognathia. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0001172,MONDO:MONDO:0008561,MedGen:C0575897,OMIM:188100|Human_Phenotype_Ontology:HP:0000273,MedGen:C0234853|Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874|Human_Phenotype_Ontology:HP:0011968,MedGen:C0232466|Human_Phenotype_Ontology:HP:0000210,Human_Phenotype_Ontology:HP:0000330,Human_Phenotype_Ontology:HP:0000345,Human_Phenotype_Ontology:HP:0000347,Human_Phenotype_Ontology:HP:0002005,Human_Phenotype_Ontology:HP:0002674,Human_Phenotype_Ontology:HP:0004669,Human_Phenotype_Ontology:HP:0005460,Human_Phenotype_Ontology:HP:0005470,MedGen:C0025990. Review status: criteria provided, single submitter.