A: The variant NC_000022.11:g.41150384_41156982delinsTG in gene EP300 is classified as 'Pathogenic' for Abnormal_facial_shape|Intellectual_disability|Postaxial_polydactyly. Molecular consequence: SO:0001574: splice_acceptor_variant,SO:0001575: splice_donor_variant. Variant type: Indel. Disease database links: Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|Human_Phenotype_Ontology:HP:0005808,Human_Phenotype_Ontology:HP:0100259,MONDO:MONDO:0020927,MedGen:C0220697,OMIM:PS174200. Review status: criteria provided, single submitter.