A: The variant NC_000020.11:g.6770343_6770344dup in gene BMP2 is classified as 'Pathogenic' for Short_stature,_facial_dysmorphism,_and_skeletal_anomalies_with_or_without_cardiac_anomalies. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0031439,MedGen:CN294045,OMIM:PS617877. Review status: criteria provided, single submitter.