A: The variant NC_000023.11:g.13746887A>C in gene OFD1 is classified as 'Uncertain_significance' for Simpson-Golabi-Behmel_syndrome_type_2|Retinitis_pigmentosa_23|Joubert_syndrome_10|Orofaciodigital_syndrome_I|Joubert_syndrome. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010265,MedGen:C1846175,OMIM:300209,Orphanet:79022|MONDO:MONDO:0010320,MedGen:C1419610,OMIM:300424,Orphanet:791|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. Review status: criteria provided, multiple submitters, no conflicts.