A: The variant NC_000020.11:g.46013717C>A in gene MMP9 is classified as 'Uncertain_significance' for Metaphyseal_anadysplasia_2. Molecular consequence: SO:0001619: non-coding_transcript_variant,SO:0001819: synonymous_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0013113,MedGen:C2751322,OMIM:613073,Orphanet:1040. Review status: criteria provided, single submitter.