A: The variant NC_000023.11:g.13760348_13760349insTA in gene OFD1 is classified as 'Pathogenic' for Orofaciodigital_syndrome_I. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Insertion. Disease database links: MONDO:MONDO:0010702,MedGen:C1510460,OMIM:311200,Orphanet:2750. Review status: no assertion criteria provided.