A: The variant NC_000020.11:g.40688049del in gene MAFB is classified as 'Pathogenic' for Duane_retraction_syndrome_3_with_or_without_deafness|Duane_retraction_syndrome_2|Duane_syndrome_type_1. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014880,MedGen:C4310752,OMIM:617041,Orphanet:233|MONDO:MONDO:0011444,MedGen:C0751083,OMIM:604356,Orphanet:233|MONDO:MONDO:0024265,MedGen:C0994516,OMIM:126800,Orphanet:233. Review status: criteria provided, single submitter.