A: The variant NC_000019.10:g.41357950_41357957del in gene B9D2 is classified as 'Pathogenic/Likely_pathogenic' for Joubert_syndrome|Meckel-Gruber_syndrome. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564. Review status: criteria provided, single submitter.