"GeneDx"[submitter] AND "MMP9"[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1326104	NC_000020.11:g.46008774AC[15]	MMP9	Microsatellite	not provided	GLikely benign
Select item 1272639	NC_000020.11:g.46008774AC[14]	MMP9	Microsatellite	not provided	GBenign
Select item 1266514	NC_000020.11:g.46008774AC[22]	MMP9	Microsatellite	not provided	GBenign
Select item 1261573	NC_000020.11:g.46008774AC[20]	MMP9	Microsatellite	not provided	GBenign
Select item 1231665	NC_000020.11:g.46008774AC[21]	MMP9	Microsatellite	not provided	GBenign
Select item 338544	NM_004994.3(MMP9):c.45C>T (p.Gly15=)	MMP9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 338546	NM_004994.3(MMP9):c.59C>T (p.Ala20Val)	MMP9 (A20V)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia 2 +1 more	GBenign/Likely benign
Select item 708035	NM_004994.3(MMP9):c.113A>G (p.Asn38Ser)	MMP9 (N38S)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia 2 +1 more	GBenign
Select item 1198083	NM_004994.3(MMP9):c.139-153A>G	MMP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220806	NM_004994.3(MMP9):c.371+44A>G	MMP9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238888	NM_004994.3(MMP9):c.372-155_372-154insCAAACAAAC	MMP9	Insertion (intron variant)	not provided	GBenign
Select item 1277818	NM_004994.3(MMP9):c.372-154_372-153insCAAACAAACAAAC	MMP9	Insertion (intron variant)	not provided	GBenign
Select item 2502568	NM_004994.3(MMP9):c.372-152_372-151insCAAACAAACA	MMP9	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1283309	NM_004994.3(MMP9):c.372-151_372-150insCAAACAAACAA	MMP9	Microsatellite (intron variant)	not provided	GBenign
Select item 1229682	NM_004994.3(MMP9):c.372-153_372-152insC	MMP9	Insertion (intron variant)	not provided	GBenign
Select item 1199837	NM_004994.3(MMP9):c.372-150_372-149insCAAAAAAAAACAAA	MMP9	Insertion (intron variant)	not provided	GLikely benign
Select item 1279794	NM_004994.3(MMP9):c.372-151_372-150insCAAACAAAC	MMP9	Insertion (intron variant)	not provided	GBenign
Select item 1277947	NM_004994.3(MMP9):c.372-151A>C	MMP9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211834	NM_004994.3(MMP9):c.372-148_372-147insCAAACAAACA	MMP9	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1281057	NM_004994.3(MMP9):c.521-50C>T	MMP9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 773609	NM_004994.3(MMP9):c.559C>T (p.Leu187Phe)	MMP9 (L187F)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia 2 +1 more	GBenign/Likely benign
Select item 338548	NM_004994.3(MMP9):c.649+3G>T	MMP9	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 338549	NM_004994.3(MMP9):c.716G>A (p.Arg239His)	MMP9 (R239H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 284343	NM_004994.3(MMP9):c.773C>T (p.Thr258Ile)	MMP9 (T258I)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia 2 +1 more	GConflicting classifications of pathogenicity
Select item 1253091	NM_004994.3(MMP9):c.824-74G>A	MMP9	Single nucleotide variant (intron variant)	not provided	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 198179	NM_004994.3(MMP9):c.886G>A (p.Gly296Ser)	MMP9 (G296S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 338553	NM_004994.3(MMP9):c.997+5C>T	MMP9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1218555	NM_004994.3(MMP9):c.997+127C>T	MMP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1707380	NM_004994.3(MMP9):c.997+179C>A	MMP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260043	NM_004994.3(MMP9):c.997+189A>G	MMP9	Single nucleotide variant (intron variant)	not provided	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 1707393	NM_004994.3(MMP9):c.1330+56T>G	MMP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187164	NM_004994.3(MMP9):c.1330+233G>A	MMP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263713	NM_004994.3(MMP9):c.1331-163G>A	MMP9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 338556	NM_004994.3(MMP9):c.1331-11T>A	MMP9	Single nucleotide variant (intron variant)	Metaphyseal anadysplasia 2 +1 more	GBenign
Select item 423424	NM_004994.3(MMP9):c.1468_1491del (p.Ser490_Pro497del)	MMP9	Deletion (inframe_deletion)	not provided	GUncertain significance
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 1197675	NM_004994.3(MMP9):c.1750+52A>G	MMP9, SLC12A5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1707132	NM_004994.3(MMP9):c.1750+75C>T	MMP9, LOC100128028 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1180110	NM_004994.3(MMP9):c.1750+97T>C	MMP9, SLC12A5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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 338558	NM_004994.3(MMP9):c.1891C>A (p.Arg631Ser)	LOC130065978, MMP9 +1 more (R631S)	Single nucleotide variant (non-coding transcript variant +1 more)	Metaphyseal anadysplasia 2 +1 more	GConflicting classifications of pathogenicity
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
Select item 338563	NM_004994.3(MMP9):c.*146T>C	MMP9, SLC12A5-AS1	Single nucleotide variant (3 prime UTR variant)	Metaphyseal anadysplasia 2 +1 more	GBenign
Select item 1258542	NC_000020.11:g.46016644del	MMP9, SLC12A5-AS1	Deletion	not provided	GBenign
Select item 1227598	NC_000020.11:g.46016643_46016644del	MMP9, SLC12A5-AS1	Deletion	not provided	GBenign
Select item 1260772	NC_000020.11:g.46016700G>A	MMP9, SLC12A5-AS1	Single nucleotide variant	not provided	GBenign

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Items: 50