A: The variant NC_000022.11:g.38668112TC[5] in gene CBY1 is classified as 'Pathogenic' for Joubert_syndrome. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Microsatellite. Disease database links: MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475. Review status: no assertion criteria provided.