A: The variant NC_000020.11:g.32433740TG[1] in gene ASXL1 is classified as 'Pathogenic' for Bohring-Opitz_syndrome|not_provided|Inborn_genetic_diseases. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Microsatellite. Disease database links: MONDO:MONDO:0011510,MedGen:C0796232,OMIM:605039,Orphanet:97297|MedGen:C3661900|MeSH:D030342,MedGen:C0950123. Review status: criteria provided, multiple submitters, no conflicts.