A: The variant NC_000023.11:g.13768140_13768146del in gene OFD1 is classified as 'Pathogenic' for Joubert_syndrome_10. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0010431,MedGen:C2749019,OMIM:300804,Orphanet:2754. Review status: no assertion criteria provided.