A: The variant NC_000023.11:g.13739002G>A in gene OFD1 is classified as 'Uncertain_significance' for Intellectual_disability|Joubert_syndrome|Orofaciodigital_syndrome_I|Retinitis_pigmentosa_23|Simpson-Golabi-Behmel_syndrome_type_2|Joubert_syndrome_10. Molecular consequence: SO:0001583: missense_variant,SO:0001623: 5_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475|MONDO:MONDO:0010702,MedGen:C1510460,OMIM:311200,Orphanet:2750|MONDO:MONDO:0010320,MedGen:C1419610,OMIM:300424,Orphanet:791|MONDO:MONDO:0010265,MedGen:C1846175,OMIM:300209,Orphanet:79022|MONDO:MONDO:0010431,MedGen:C2749019,OMIM:300804,Orphanet:2754. Review status: criteria provided, multiple submitters, no conflicts.