A: The variant NC_000023.11:g.13751320dup in gene OFD1 is classified as 'Conflicting_classifications_of_pathogenicity' for Simpson-Golabi-Behmel_syndrome_type_2|not_specified|not_provided|Orofaciodigital_syndrome_I|Joubert_syndrome|Primary_ciliary_dyskinesia. Molecular consequence: SO:0001589: frameshift_variant,SO:0001627: intron_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0010265,MedGen:C1846175,OMIM:300209,Orphanet:79022|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010702,MedGen:C1510460,OMIM:311200,Orphanet:2750|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244. Review status: criteria provided, conflicting classifications.