A: The variant NC_000022.11:g.50220688_50221093del in gene TUBGCP6 is classified as 'Likely_pathogenic' for Microcephaly_and_chorioretinopathy_1. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0009624,MedGen:C3278481,OMIM:251270. Review status: criteria provided, single submitter.