A: The variant NC_000023.11:g.13746835dup in gene OFD1 is classified as 'Pathogenic' for Orofaciodigital_syndrome_I|Joubert_syndrome_10|Simpson-Golabi-Behmel_syndrome_type_2|Retinitis_pigmentosa_23|OFD1-related_disorder|Simpson-Golabi-Behmel_syndrome|not_provided. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0010702,MedGen:C1510460,OMIM:311200,Orphanet:2750|MONDO:MONDO:0010431,MedGen:C2749019,OMIM:300804,Orphanet:2754|MONDO:MONDO:0010265,MedGen:C1846175,OMIM:300209,Orphanet:79022|MONDO:MONDO:0010320,MedGen:C1419610,OMIM:300424,Orphanet:791|.|MONDO:MONDO:0010731,MedGen:C4317043,Orphanet:373|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.