A: The variant NC_000022.11:g.50219438_50219439insA in gene TUBGCP6 is classified as 'Pathogenic' for Microcephaly_and_chorioretinopathy_1. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Insertion. Disease database links: MONDO:MONDO:0009624,MedGen:C3278481,OMIM:251270. Review status: no assertion criteria provided.