A: The variant NC_000023.11:g.13760586_13760589dup in gene OFD1 is classified as 'Pathogenic' for Simpson-Golabi-Behmel_syndrome_type_2|Orofaciodigital_syndrome_I. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0010265,MedGen:C1846175,OMIM:300209,Orphanet:79022|MONDO:MONDO:0010702,MedGen:C1510460,OMIM:311200,Orphanet:2750. Review status: no assertion criteria provided.