A: The variant NC_000023.11:g.13757672C>T in gene OFD1 is classified as 'Uncertain_significance' for not_provided|Simpson-Golabi-Behmel_syndrome_type_2. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0010265,MedGen:C1846175,OMIM:300209,Orphanet:79022. Review status: criteria provided, multiple submitters, no conflicts.