A: The variant NC_000023.11:g.13757338G>A in gene OFD1 is classified as 'Pathogenic' for Simpson-Golabi-Behmel_syndrome_type_2. Molecular consequence: SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0010265,MedGen:C1846175,OMIM:300209,Orphanet:79022. Review status: criteria provided, single submitter.