A: The variant NC_000020.11:g.51791542dup in gene SALL4 is classified as 'Pathogenic' for Duane-radial_ray_syndrome. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0011812,MedGen:C1623209,OMIM:607323,Orphanet:93293,Orphanet:959. Review status: no assertion criteria provided.