"Genome-Nilou Lab"[submitter] AND "MMP9"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 338548	NM_004994.3(MMP9):c.649+3G>T	MMP9	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 338550	NM_004994.3(MMP9):c.836A>G (p.Gln279Arg)	MMP9 (Q279R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 338554	NM_004994.3(MMP9):c.1174+7G>A	MMP9	Single nucleotide variant (intron variant)	Metaphyseal anadysplasia 2 +1 more	GBenign
Select item 282093	NM_004994.3(MMP9):c.1721G>C (p.Arg574Pro)	MMP9, SLC12A5-AS1 (R574P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GBenign
Select item 285363	NM_004994.3(MMP9):c.1821A>C (p.Gly607=)	MMP9, SLC12A5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Metaphyseal anadysplasia 2 +2 more	GBenign
Select item 338559	NM_004994.3(MMP9):c.2003G>A (p.Arg668Gln)	MMP9, SLC12A5-AS1 (R668Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Metaphyseal anadysplasia 2 +2 more	GBenign
Select item 338561	NM_004994.3(MMP9):c.2082G>A (p.Val694=)	MMP9, SLC12A5-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 338562	NM_004994.3(MMP9):c.*3C>T	MMP9, SLC12A5-AS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign

ClinVar