A: The variant NC_000019.10:g.41354921G>A in gene B9D2 is classified as 'Uncertain_significance' for Joubert_syndrome|Meckel-Gruber_syndrome|Meckel_syndrome,_type_10. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564|MONDO:MONDO:0013609,MedGen:C3280036,OMIM:614175,Orphanet:564. Review status: criteria provided, multiple submitters, no conflicts.