A: The variant NC_000022.11:g.50222507G>A in gene TUBGCP6 is classified as 'Pathogenic' for Microcephaly_and_chorioretinopathy_with_or_without_intellectual_disability. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MedGen:CN233046. Review status: criteria provided, single submitter.