A: The variant NC_000023.11:g.13767195C>T in gene OFD1 is classified as 'Pathogenic/Likely_pathogenic' for not_provided|Joubert_syndrome_10|Orofaciodigital_syndrome_I|Joubert_syndrome|Retinal_dystrophy. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0010431,MedGen:C2749019,OMIM:300804,Orphanet:2754|MONDO:MONDO:0010702,MedGen:C1510460,OMIM:311200,Orphanet:2750|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862. Review status: criteria provided, multiple submitters, no conflicts.