A: The variant NC_000020.11:g.32436966_32436972delinsCTCAC in gene ASXL1 is classified as 'Pathogenic' for Bohring-Opitz_syndrome. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Indel. Disease database links: MONDO:MONDO:0011510,MedGen:C0796232,OMIM:605039,Orphanet:97297. Review status: criteria provided, single submitter.