A: The variant NC_000019.10:g.41355008G>A in gene B9D2 is classified as 'Pathogenic/Likely_pathogenic' for Joubert_syndrome_34|Joubert_syndrome_and_related_disorders|Joubert_syndrome. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0800383,MedGen:C4539386|MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475. Review status: criteria provided, multiple submitters, no conflicts.