"Ambry Genetics"[submitter] AND "MMP9"[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3170134	NM_004994.3(MMP9):c.94C>T (p.Pro32Ser)	MMP9 (P32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3295354	NM_004994.3(MMP9):c.532G>C (p.Gly178Arg)	MMP9 (G178R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2276970	NM_004994.3(MMP9):c.571G>A (p.Ala191Thr)	MMP9 (A191T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1917871	NM_004994.3(MMP9):c.571G>C (p.Ala191Pro)	MMP9 (A191P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2362160	NM_004994.3(MMP9):c.607C>T (p.His203Tyr)	MMP9 (H203Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2173153	NM_004994.3(MMP9):c.638G>A (p.Gly213Asp)	MMP9 (G213D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2164220	NM_004994.3(MMP9):c.680G>A (p.Gly227Asp)	MMP9 (G227D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3169992	NM_004994.3(MMP9):c.719C>G (p.Ser240Cys)	MMP9 (S240C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295353	NM_004994.3(MMP9):c.728C>T (p.Ala243Val)	MMP9 (A243V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542443	NM_004994.3(MMP9):c.818G>T (p.Ser273Ile)	MMP9 (S273I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170046	NM_004994.3(MMP9):c.842G>C (p.Gly281Ala)	MMP9 (G281A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170080	NM_004994.3(MMP9):c.866A>G (p.Gln289Arg)	MMP9 (Q289R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614564	NM_004994.3(MMP9):c.928G>C (p.Gly310Arg)	MMP9 (G310R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266334	NM_004994.3(MMP9):c.969C>A (p.Asp323Glu)	MMP9 (D323E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609674	NM_004994.3(MMP9):c.985T>G (p.Cys329Gly)	MMP9 (C329G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1363910	NM_004994.3(MMP9):c.994C>G (p.Arg332Gly)	MMP9 (R332G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3295351	NM_004994.3(MMP9):c.1004C>G (p.Ser335Trp)	MMP9 (S335W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1369457	NM_004994.3(MMP9):c.1009G>A (p.Val337Met)	MMP9 (V337M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2269755	NM_004994.3(MMP9):c.1066A>G (p.Lys356Glu)	MMP9 (K356E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285162	NM_004994.3(MMP9):c.1090G>A (p.Glu364Lys)	MMP9 (E364K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1481351	NM_004994.3(MMP9):c.1094G>A (p.Gly365Asp)	MMP9 (G365D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2253543	NM_004994.3(MMP9):c.1097G>A (p.Arg366His)	MMP9 (R366H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529029	NM_004994.3(MMP9):c.1173A>C (p.Gln391His)	MMP9 (Q391H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2067320	NM_004994.3(MMP9):c.1208T>A (p.Phe403Tyr)	MMP9 (F403Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2908335	NM_004994.3(MMP9):c.1250C>T (p.Ala417Val)	MMP9 (A417V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2621461	NM_004994.3(MMP9):c.1268A>G (p.Tyr423Cys)	MMP9 (Y423C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607627	NM_004994.3(MMP9):c.1288C>T (p.Pro430Ser)	MMP9 (P430S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2056664	NM_004994.3(MMP9):c.1336C>G (p.Arg446Gly)	MMP9 (R446G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3169601	NM_004994.3(MMP9):c.1648C>T (p.Pro550Ser)	MMP9, SLC12A5-AS1 (P550S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3295352	NM_004994.3(MMP9):c.1694G>T (p.Arg565Leu)	MMP9, SLC12A5-AS1 (R565L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2223948	NM_004994.3(MMP9):c.1727C>G (p.Ser576Cys)	MMP9, SLC12A5-AS1 (S576C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3169663	NM_004994.3(MMP9):c.1910T>G (p.Val637Gly)	LOC130065978, MMP9 +1 more (V637G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2552100	NM_004994.3(MMP9):c.1912A>C (p.Lys638Gln)	LOC130065978, MMP9 +1 more (K638Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2392156	NM_004994.3(MMP9):c.2053C>T (p.Arg685Trp)	MMP9, SLC12A5-AS1 (R685W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2190412	NM_004994.3(MMP9):c.2107C>A (p.Gln703Lys)	MMP9, SLC12A5-AS1 (Q703K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3169759	NM_004994.3(MMP9):c.2108A>G (p.Gln703Arg)	MMP9, SLC12A5-AS1 (Q703R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 40