A: The variant NC_000020.11:g.36240388G>A in gene AAR2 is classified as 'Likely_pathogenic' for Anteriorly_placed_anus|Cerebellar_malformation|Macule|Patent_foramen_ovale|Hypoplasia_of_the_corpus_callosum|Microcephaly|Ventricular_septal_defect|Global_developmental_delay. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0001545,MedGen:C1838705|Human_Phenotype_Ontology:HP:0002438,MedGen:C4025708,Orphanet:182061|Human_Phenotype_Ontology:HP:0012733,MedGen:C0332573|Human_Phenotype_Ontology:HP:0001655,MONDO:MONDO:0020439,MedGen:C0016522|Human_Phenotype_Ontology:HP:0002079,Human_Phenotype_Ontology:HP:0002319,Human_Phenotype_Ontology:HP:0007026,MedGen:C0344482|Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563|Human_Phenotype_Ontology:HP:0001629,Human_Phenotype_Ontology:HP:0001652,MONDO:MONDO:0002070,MedGen:C0018818,OMIM:PS614429,Orphanet:1480|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. Review status: no assertion criteria provided.