A: The variant NC_000022.11:g.19764267del in gene TBX1 is classified as 'Pathogenic' for KBG_syndrome. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050,Orphanet:2332. Review status: no assertion criteria provided.