A: The variant NC_000022.11:g.19765792C>G in gene TBX1 is classified as 'Uncertain_significance' for Conotruncal_heart_malformations. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0016581,MedGen:C1857586,OMIM:217095,Orphanet:2445,Orphanet:3384,Orphanet:3426. Review status: criteria provided, single submitter.