A: The variant NC_000020.11:g.46689399CT[3] in gene TP53RK is classified as 'Pathogenic' for Galloway-Mowat_syndrome_4|Microcephaly. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Microsatellite. Disease database links: MONDO:MONDO:0033008,MedGen:C4540270,OMIM:617730|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. Review status: criteria provided, single submitter.