A: The variant NC_000019.10:g.49595238_49595244dup in gene PRR12 is classified as 'Pathogenic' for Neuroocular_syndrome|Iris_coloboma|Abnormality_of_vision|Delayed_speech_and_language_development|Autism|Motor_delay. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0859193,MedGen:C5551362,OMIM:PS619539|Human_Phenotype_Ontology:HP:0000612,MONDO:MONDO:0020356,MedGen:C0240063,Orphanet:98944|Human_Phenotype_Ontology:HP:0000504,MedGen:C4025846|Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644|Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850|Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301. Review status: criteria provided, multiple submitters, no conflicts.