MMP9[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
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 17107	NM_004994.3(MMP9):c.2T>A (p.Met1Lys)	MMP9 (M1K)	Single nucleotide variant (missense variant +1 more)	Metaphyseal anadysplasia 2 +1 more	GUncertain significance
Select item 3295349	NM_004994.3(MMP9):c.13C>A (p.Gln5Lys)	MMP9 (Q5K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 793441	NM_004994.3(MMP9):c.15G>A (p.Gln5=)	MMP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2911737	NM_004994.3(MMP9):c.27G>T (p.Leu9=)	MMP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2728375	NM_004994.3(MMP9):c.28G>A (p.Val10Met)	MMP9 (V10M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2126556	NM_004994.3(MMP9):c.39G>T (p.Val13=)	MMP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2085871	NM_004994.3(MMP9):c.45C>A (p.Gly15=)	MMP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2167012	NM_004994.3(MMP9):c.48C>T (p.Cys16=)	MMP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 338545	NM_004994.3(MMP9):c.58G>A (p.Ala20Thr)	MMP9 (A20T)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia 2	GUncertain significance
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 707836	NM_004994.3(MMP9):c.70C>T (p.Arg24Cys)	MMP9 (R24C)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia 2 +1 more	GBenign/Likely benign
Select item 3002195	NM_004994.3(MMP9):c.71G>A (p.Arg24His)	MMP9 (R24H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1981818	NM_004994.3(MMP9):c.75G>A (p.Gln25=)	MMP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1301672	NM_004994.3(MMP9):c.80C>T (p.Thr27Ile)	MMP9 (T27I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 719765	NM_004994.3(MMP9):c.81C>T (p.Thr27=)	MMP9	Single nucleotide variant (synonymous variant)	Metaphyseal anadysplasia 2 +1 more	GConflicting classifications of pathogenicity
Select item 1595888	NM_004994.3(MMP9):c.87G>T (p.Val29=)	MMP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2020584	NM_004994.3(MMP9):c.93C>T (p.Phe31=)	MMP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3170134	NM_004994.3(MMP9):c.94C>T (p.Pro32Ser)	MMP9 (P32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1042984	NM_004994.3(MMP9):c.109A>G (p.Thr37Ala)	MMP9 (T37A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1657817	NM_004994.3(MMP9):c.120C>T (p.Thr40=)	MMP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1057022	NM_004994.3(MMP9):c.121G>A (p.Asp41Asn)	MMP9 (D41N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1198083	NM_004994.3(MMP9):c.139-153A>G	MMP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 898779	NM_004994.3(MMP9):c.139-5C>T	MMP9	Single nucleotide variant (intron variant)	Metaphyseal anadysplasia 2 +1 more	GConflicting classifications of pathogenicity
Select item 2029927	NM_004994.3(MMP9):c.139-3C>T	MMP9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1946758	NM_004994.3(MMP9):c.140A>G (p.Glu47Gly)	MMP9 (E47G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498140	NM_004994.3(MMP9):c.151C>T (p.Arg51Cys)	MMP9 (R51C)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia 2	GLikely pathogenic
Select item 2182747	NM_004994.3(MMP9):c.173C>T (p.Ala58Val)	MMP9 (A58V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195236	NM_004994.3(MMP9):c.175G>C (p.Glu59Gln)	MMP9 (E59Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1477791	NM_004994.3(MMP9):c.182G>A (p.Arg61His)	MMP9 (R61H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 898780	NM_004994.3(MMP9):c.206C>T (p.Pro69Leu)	MMP9 (P69L)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia 2 +1 more	GUncertain significance
Select item 1921058	NM_004994.3(MMP9):c.210G>A (p.Ala70=)	MMP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2755154	NM_004994.3(MMP9):c.240G>A (p.Leu80=)	MMP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1470311	NM_004994.3(MMP9):c.250G>T (p.Gly84Cys)	MMP9 (G84C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 898781	NM_004994.3(MMP9):c.259G>A (p.Asp87Asn)	MMP9 (D87N)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia 2	GUncertain significance
Select item 2956643	NM_004994.3(MMP9):c.264C>T (p.Ser88=)	MMP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864546	NM_004994.3(MMP9):c.275A>G (p.Lys92Arg)	MMP9 (K92R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1383105	NM_004994.3(MMP9):c.287C>G (p.Thr96Ser)	MMP9 (T96S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1974577	NM_004994.3(MMP9):c.301G>A (p.Val101Ile)	MMP9 (V101I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1503426	NM_004994.3(MMP9):c.326C>T (p.Thr109Ile)	MMP9 (T109I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 895811	NM_004994.3(MMP9):c.344A>G (p.Lys115Arg)	MMP9 (K115R)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia 2 +1 more	GUncertain significance
Select item 2883512	NM_004994.3(MMP9):c.359A>G (p.Asn120Ser)	MMP9 (N120S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 708644	NM_004994.3(MMP9):c.366C>A (p.Thr122=)	MMP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3039334	NM_004994.3(MMP9):c.371+7C>G	MMP9	Single nucleotide variant (intron variant)	MMP9-related disorder	GLikely benign
Select item 1661721	NM_004994.3(MMP9):c.371+8G>A	MMP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1982577	NM_004994.3(MMP9):c.371+12C>T	MMP9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1671808	NM_004994.3(MMP9):c.371+14G>A	MMP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2191807	NM_004994.3(MMP9):c.371+17G>A	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 1500856	NM_004994.3(MMP9):c.372-10_372-9dup	MMP9	Duplication (intron variant)	not provided	GLikely benign
Select item 1518632	NM_004994.3(MMP9):c.381C>G (p.Asn127Lys)	MMP9 (N127K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 713798	NM_004994.3(MMP9):c.384C>T (p.Tyr128=)	MMP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1363396	NM_004994.3(MMP9):c.386C>G (p.Ser129Trp)	MMP9 (S129W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3064054	NM_004994.3(MMP9):c.393C>A (p.Asp131Glu)	MMP9 (D131E)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia 2	Gnot provided
Select item 2848875	NM_004994.3(MMP9):c.396G>A (p.Leu132=)	MMP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2420436	NM_004994.3(MMP9):c.397C>T (p.Pro133Ser)	MMP9 (P133S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1925682	NM_004994.3(MMP9):c.404C>T (p.Ala135Val)	MMP9 (A135V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1445391	NM_004994.3(MMP9):c.431C>G (p.Ala144Gly)	MMP9 (A144G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2778315	NM_004994.3(MMP9):c.438A>G (p.Ala146=)	MMP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 895812	NM_004994.3(MMP9):c.451G>A (p.Val151Met)	MMP9 (V151M)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia 2	GUncertain significance
Select item 1525460	NM_004994.3(MMP9):c.458C>A (p.Pro153Gln)	MMP9 (P153Q)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia 2 +1 more	GUncertain significance
Select item 338547	NM_004994.3(MMP9):c.464C>T (p.Thr155Ile)	MMP9 (T155I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2973050	NM_004994.3(MMP9):c.484C>T (p.Arg162Trp)	MMP9 (R162W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1493307	NM_004994.3(MMP9):c.487G>A (p.Asp163Asn)	MMP9 (D163N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1414399	NM_004994.3(MMP9):c.493G>A (p.Asp165Asn)	MMP9 (D165N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987011	NM_004994.3(MMP9):c.504C>A (p.Ile168=)	MMP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1919501	NM_004994.3(MMP9):c.518C>A (p.Ala173Glu)	MMP9 (A173E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1056493	NM_004994.3(MMP9):c.519G>A (p.Ala173=)	MMP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1353697	NM_004994.3(MMP9):c.520+3G>A	MMP9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1550580	NM_004994.3(MMP9):c.520+9G>A	MMP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976137	NM_004994.3(MMP9):c.520+18G>A	MMP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2797301	NM_004994.3(MMP9):c.520+19A>C	MMP9	Single nucleotide variant (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 2872450	NM_004994.3(MMP9):c.521-19T>C	MMP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 895813	NM_004994.3(MMP9):c.521-15G>C	MMP9	Single nucleotide variant (intron variant)	Metaphyseal anadysplasia 2 +1 more	GConflicting classifications of pathogenicity
Select item 1913430	NM_004994.3(MMP9):c.521-10G>A	MMP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1505237	NM_004994.3(MMP9):c.521A>G (p.Glu174Gly)	MMP9 (E174G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3295354	NM_004994.3(MMP9):c.532G>C (p.Gly178Arg)	MMP9 (G178R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2719872	NM_004994.3(MMP9):c.543C>T (p.Phe181=)	MMP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3169824	NM_004994.3(MMP9):c.548G>C (p.Gly183Ala)	MMP9 (G183A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1010195	NM_004994.3(MMP9):c.548G>A (p.Gly183Glu)	MMP9 (G183E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2174759	NM_004994.3(MMP9):c.559C>G (p.Leu187Val)	MMP9 (L187V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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