A: The variant NC_000022.11:g.19766602del in gene TBX1 is classified as 'Pathogenic' for Conotruncal_anomaly_face_syndrome. Molecular consequence: SO:0001589: frameshift_variant,SO:0001627: intron_variant. Variant type: Deletion. Disease database links: MedGen:C0795907. Review status: no assertion criteria provided.