ClinVar for MedGen (Select 414350) - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2689435	NM_004994.3(MMP9):c.831C>A (p.Tyr277Ter)	MMP9 (Y277*)	Single nucleotide variant (nonsense)	Metaphyseal anadysplasia 2	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 2498120	NM_004994.3(MMP9):c.929del (p.Gly310fs)	MMP9 (G310fs)	Deletion (frameshift variant)	Metaphyseal anadysplasia 2	GLikely pathogenic
Select item 1525460	NM_004994.3(MMP9):c.458C>A (p.Pro153Gln)	MMP9 (P153Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1342615	NM_004994.3(MMP9):c.1222G>A (p.Gly408Ser)	MMP9 (G408S)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia 2	GUncertain significance
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 1035934	NM_004994.3(MMP9):c.2089G>A (p.Val697Met)	MMP9, SLC12A5-AS1 (V697M)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia 2 +1 more	GUncertain significance
Select item 1030865	NM_004994.3(MMP9):c.987C>A (p.Cys329Ter)	MMP9 (C329*)	Single nucleotide variant (nonsense)	Metaphyseal anadysplasia 2	GPathogenic
Select item 898846	NM_004994.3(MMP9):c.1925T>C (p.Val642Ala)	LOC130065978, MMP9 +1 more (V642A)	Single nucleotide variant (missense variant +1 more)	Metaphyseal anadysplasia 2	GUncertain significance
Select item 898845	NM_004994.3(MMP9):c.1906G>C (p.Asp636His)	LOC130065978, MMP9 +1 more (D636H)	Single nucleotide variant (missense variant +1 more)	Metaphyseal anadysplasia 2	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 898780	NM_004994.3(MMP9):c.206C>T (p.Pro69Leu)	MMP9 (P69L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 897686	NM_004994.3(MMP9):c.1532C>T (p.Pro511Leu)	MMP9 (P511L)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia 2	GUncertain significance
Select item 897685	NM_004994.3(MMP9):c.1404C>T (p.Cys468=)	MMP9	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 897684	NM_004994.3(MMP9):c.1394C>T (p.Pro465Leu)	MMP9 (P465L)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia 2	GUncertain significance
Select item 896098	NM_004994.3(MMP9):c.979G>C (p.Gly327Arg)	MMP9 (G327R)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia 2	GUncertain significance
Select item 896097	NM_004994.3(MMP9):c.916G>T (p.Gly306Cys)	MMP9 (G306C)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia 2	GUncertain significance
Select item 896096	NM_004994.3(MMP9):c.820G>A (p.Glu274Lys)	MMP9 (E274K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 896095	NM_004994.3(MMP9):c.782A>G (p.Asn261Ser)	MMP9 (N261S)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia 2 +1 more	GConflicting classifications of pathogenicity
Select item 895884	NM_004994.3(MMP9):c.2071G>A (p.Val691Met)	LOC100128028, MMP9 +1 more (V691M)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia 2	GUncertain significance
Select item 895813	NM_004994.3(MMP9):c.521-15G>C	MMP9	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 782929	NM_004994.3(MMP9):c.840C>T (p.Asp280=)	MMP9	Single nucleotide variant (synonymous variant)	MMP9-related condition +2 more	GBenign
Select item 773609	NM_004994.3(MMP9):c.559C>T (p.Leu187Phe)	MMP9 (L187F)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia 2 +2 more	GBenign/Likely benign
Select item 732688	NM_004994.3(MMP9):c.2022C>T (p.Cys674=)	MMP9, SLC12A5-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 708035	NM_004994.3(MMP9):c.113A>G (p.Asn38Ser)	MMP9 (N38S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 707836	NM_004994.3(MMP9):c.70C>T (p.Arg24Cys)	MMP9 (R24C)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 632375	NM_004994.3(MMP9):c.823+2_823+7del	MMP9	Deletion (splice donor variant)	Metaphyseal anadysplasia 2	GUncertain significance
Select item 631876	NM_004994.3(MMP9):c.1764G>A (p.Trp588Ter)	MMP9, SLC12A5-AS1 (W588*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 631875	NM_004994.3(MMP9):c.1679G>A (p.Trp560Ter)	MMP9, SLC12A5-AS1 (W560*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 631874	NM_004994.3(MMP9):c.1284dup (p.Pro429fs)	MMP9 (P429fs)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 338564	NM_004994.3(MMP9):c.*189C>T	LOC100128028, MMP9 +1 more	Single nucleotide variant (3 prime UTR variant)	Metaphyseal anadysplasia 2	GUncertain significance
Select item 338563	NM_004994.3(MMP9):c.*146T>C	SLC12A5-AS1, MMP9	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 338562	NM_004994.3(MMP9):c.*3C>T	SLC12A5-AS1, MMP9	Single nucleotide variant (3 prime UTR variant)	Metaphyseal anadysplasia 2 +1 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 338560	NM_004994.3(MMP9):c.2042G>A (p.Arg681His)	LOC100128028, MMP9 +1 more (R681H)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia 2	GUncertain significance
Select item 338559	NM_004994.3(MMP9):c.2003G>A (p.Arg668Gln)	MMP9, SLC12A5-AS1 (R668Q)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 338558	NM_004994.3(MMP9):c.1891C>A (p.Arg631Ser)	MMP9, SLC12A5-AS1 +1 more (R631S)	Single nucleotide variant (non-coding transcript variant +1 more)	Metaphyseal anadysplasia 2 +1 more	GConflicting classifications of pathogenicity
Select item 338557	NM_004994.3(MMP9):c.1671C>A (p.Ala557=)	MMP9, SLC12A5-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Metaphyseal anadysplasia 2	GUncertain significance
Select item 338556	NM_004994.3(MMP9):c.1331-11T>A	MMP9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 338555	NM_004994.3(MMP9):c.1174+14C>T	MMP9	Single nucleotide variant (intron variant)	Metaphyseal anadysplasia 2	GUncertain significance
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 338553	NM_004994.3(MMP9):c.997+5C>T	MMP9	Single nucleotide variant (intron variant)	Metaphyseal anadysplasia 2 +1 more	GBenign
Select item 338552	NM_004994.3(MMP9):c.906C>A (p.Cys302Ter)	MMP9 (C302*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 338551	NM_004994.3(MMP9):c.878T>A (p.Ile293Asn)	MMP9 (I293N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 338548	NM_004994.3(MMP9):c.649+3G>T	MMP9	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
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 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 338545	NM_004994.3(MMP9):c.58G>A (p.Ala20Thr)	MMP9 (A20T)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia 2	GUncertain significance
Select item 338544	NM_004994.3(MMP9):c.45C>T (p.Gly15=)	MMP9	Single nucleotide variant (synonymous variant)	Metaphyseal anadysplasia 2 +1 more	GBenign/Likely benign
Select item 285363	NM_004994.3(MMP9):c.1821A>C (p.Gly607=)	MMP9, SLC12A5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GBenign
Select item 284343	NM_004994.3(MMP9):c.773C>T (p.Thr258Ile)	MMP9 (T258I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 283364	NM_004994.3(MMP9):c.1414C>T (p.Pro472Ser)	MMP9 (P472S)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia 2 +1 more	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 provided +2 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 17107	NM_004994.3(MMP9):c.2T>A (p.Met1Lys)	MMP9 (M1K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance

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Links from MedGen

Items: 62