A: The variant NC_000019.10:g.41354927T>G in gene B9D2 is classified as 'Pathogenic' for Joubert_syndrome_and_related_disorders|Meckel_syndrome,_type_10. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0015369,MedGen:C5679612,Orphanet:140874|MONDO:MONDO:0013609,MedGen:C3280036,OMIM:614175,Orphanet:564. Review status: criteria provided, single submitter.