ClinVar for MedGen (Select 414350) - ClinVar

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Items: 60

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24981401.	NM_004994.3(MMP9):c.151C>T (p.Arg51Cys) GRCh37: Chr20:44638517 GRCh38: Chr20:46009878	MMP9	R51C	Metaphyseal anadysplasia 2	Likely pathogenic (Mar 31, 2021)	criteria provided, single submitter
Select item 24981202.	NM_004994.3(MMP9):c.929del (p.Gly310fs) GRCh37: Chr20:44640317 GRCh38: Chr20:46011678	MMP9	G310fs	Metaphyseal anadysplasia 2	Likely pathogenic (Mar 31, 2021)	criteria provided, single submitter
Select item 15254603.	NM_004994.3(MMP9):c.458C>A (p.Pro153Gln) GRCh37: Chr20:44639208 GRCh38: Chr20:46010569	MMP9	P153Q	Metaphyseal anadysplasia 2, not provided	Uncertain significance (Jun 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13426154.	NM_004994.3(MMP9):c.1222G>A (p.Gly408Ser) GRCh37: Chr20:44641113 GRCh38: Chr20:46012474	MMP9	G408S	Metaphyseal anadysplasia 2	Uncertain significance (May 14, 2021)	criteria provided, single submitter
Select item 13016725.	NM_004994.3(MMP9):c.80C>T (p.Thr27Ile) GRCh37: Chr20:44637645 GRCh38: Chr20:46009006	MMP9	T27I	not provided, Metaphyseal anadysplasia 2	Uncertain significance (Aug 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10359346.	NM_004994.3(MMP9):c.2089G>A (p.Val697Met) GRCh37: Chr20:44644972 GRCh38: Chr20:46016333	LOC100128028, MMP9, SLC12A5-AS1	V697M	not provided, Metaphyseal anadysplasia 2	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10308657.	NM_004994.3(MMP9):c.987C>A (p.Cys329Ter) GRCh37: Chr20:44640376 GRCh38: Chr20:46011737	MMP9	C329*	Metaphyseal anadysplasia 2	Pathogenic (Jan 2, 2020)	criteria provided, single submitter
Select item 8988468.	NM_004994.3(MMP9):c.1925T>C (p.Val642Ala) GRCh37: Chr20:44643033 GRCh38: Chr20:46014394	LOC100128028, MMP9, SLC12A5-AS1	V642A	Metaphyseal anadysplasia 2	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 8988459.	NM_004994.3(MMP9):c.1906G>C (p.Asp636His) GRCh37: Chr20:44643014 GRCh38: Chr20:46014375	LOC100128028, MMP9, SLC12A5-AS1	D636H	Metaphyseal anadysplasia 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89878110.	NM_004994.3(MMP9):c.259G>A (p.Asp87Asn) GRCh37: Chr20:44638625 GRCh38: Chr20:46009986	MMP9	D87N	Metaphyseal anadysplasia 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89878011.	NM_004994.3(MMP9):c.206C>T (p.Pro69Leu) GRCh37: Chr20:44638572 GRCh38: Chr20:46009933	MMP9	P69L	not provided, Metaphyseal anadysplasia 2	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89877912.	NM_004994.3(MMP9):c.139-5C>T GRCh37: Chr20:44638500 GRCh38: Chr20:46009861	MMP9		not provided, Metaphyseal anadysplasia 2	Conflicting interpretations of pathogenicity (Sep 5, 2022)	criteria provided, conflicting interpretations
Select item 89768613.	NM_004994.3(MMP9):c.1532C>T (p.Pro511Leu) GRCh37: Chr20:44642095 GRCh38: Chr20:46013456	MMP9	P511L	Metaphyseal anadysplasia 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89768514.	NM_004994.3(MMP9):c.1404C>T (p.Cys468=) GRCh37: Chr20:44641967 GRCh38: Chr20:46013328	MMP9		not provided, Metaphyseal anadysplasia 2	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 89768415.	NM_004994.3(MMP9):c.1394C>T (p.Pro465Leu) GRCh37: Chr20:44641957 GRCh38: Chr20:46013318	MMP9	P465L	Metaphyseal anadysplasia 2	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89609816.	NM_004994.3(MMP9):c.979G>C (p.Gly327Arg) GRCh37: Chr20:44640368 GRCh38: Chr20:46011729	MMP9	G327R	Metaphyseal anadysplasia 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89609717.	NM_004994.3(MMP9):c.916G>T (p.Gly306Cys) GRCh37: Chr20:44640305 GRCh38: Chr20:46011666	MMP9	G306C	Metaphyseal anadysplasia 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89609618.	NM_004994.3(MMP9):c.820G>A (p.Glu274Lys) GRCh37: Chr20:44639952 GRCh38: Chr20:46011313	MMP9	E274K	Metaphyseal anadysplasia 2, not provided	Uncertain significance (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89609519.	NM_004994.3(MMP9):c.782A>G (p.Asn261Ser) GRCh37: Chr20:44639914 GRCh38: Chr20:46011275	MMP9	N261S	Metaphyseal anadysplasia 2, not provided	Conflicting interpretations of pathogenicity (Sep 10, 2022)	criteria provided, conflicting interpretations
Select item 89588420.	NM_004994.3(MMP9):c.2071G>A (p.Val691Met) GRCh37: Chr20:44644954 GRCh38: Chr20:46016315	LOC100128028, MMP9, SLC12A5-AS1	V691M	Metaphyseal anadysplasia 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89581321.	NM_004994.3(MMP9):c.521-15G>C GRCh37: Chr20:44639546 GRCh38: Chr20:46010907	MMP9		Metaphyseal anadysplasia 2, not provided	Conflicting interpretations of pathogenicity (Sep 7, 2022)	criteria provided, conflicting interpretations
Select item 89581222.	NM_004994.3(MMP9):c.451G>A (p.Val151Met) GRCh37: Chr20:44639201 GRCh38: Chr20:46010562	MMP9	V151M	Metaphyseal anadysplasia 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89581123.	NM_004994.3(MMP9):c.344A>G (p.Lys115Arg) GRCh37: Chr20:44638710 GRCh38: Chr20:46010071	MMP9	K115R	Metaphyseal anadysplasia 2, not provided	Uncertain significance (Jul 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 78292924.	NM_004994.3(MMP9):c.840C>T (p.Asp280=) GRCh37: Chr20:44640229 GRCh38: Chr20:46011590	MMP9		Metaphyseal anadysplasia 2, not provided	Benign (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 77360925.	NM_004994.3(MMP9):c.559C>T (p.Leu187Phe) GRCh37: Chr20:44639599 GRCh38: Chr20:46010960	MMP9	L187F	Metaphyseal anadysplasia 2, not provided	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 73268826.	NM_004994.3(MMP9):c.2022C>T (p.Cys674=) GRCh37: Chr20:44644905 GRCh38: Chr20:46016266	LOC100128028, MMP9, SLC12A5-AS1		not provided, Metaphyseal anadysplasia 2	Benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 71976527.	NM_004994.3(MMP9):c.81C>T (p.Thr27=) GRCh37: Chr20:44637646 GRCh38: Chr20:46009007	MMP9		not provided, Metaphyseal anadysplasia 2	Conflicting interpretations of pathogenicity (Jul 23, 2022)	criteria provided, conflicting interpretations
Select item 70803528.	NM_004994.3(MMP9):c.113A>G (p.Asn38Ser) GRCh37: Chr20:44637678 GRCh38: Chr20:46009039	MMP9	N38S	not provided, Metaphyseal anadysplasia 2	Benign (Jan 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 70783629.	NM_004994.3(MMP9):c.70C>T (p.Arg24Cys) GRCh37: Chr20:44637635 GRCh38: Chr20:46008996	MMP9	R24C	not provided, Metaphyseal anadysplasia 2	Benign/Likely benign (Oct 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63237530.	NM_004994.3(MMP9):c.823+2_823+7del GRCh37: Chr20:44639956-44639961 GRCh38: Chr20:46011317-46011322	MMP9		Metaphyseal anadysplasia 2	Uncertain significance (Nov 28, 2017)	criteria provided, single submitter
Select item 63187631.	NM_004994.3(MMP9):c.1764G>A (p.Trp588Ter) GRCh37: Chr20:44642776 GRCh38: Chr20:46014137	LOC100128028, MMP9, SLC12A5-AS1	W588*	not provided, Metaphyseal anadysplasia 2	Uncertain significance (Mar 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63187532.	NM_004994.3(MMP9):c.1679G>A (p.Trp560Ter) GRCh37: Chr20:44642364 GRCh38: Chr20:46013725	LOC100128028, MMP9, SLC12A5-AS1	W560*	not provided, Metaphyseal anadysplasia 2	Uncertain significance (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63187433.	NM_004994.3(MMP9):c.1284dup (p.Pro429fs) GRCh37: Chr20:44641171-44641172 GRCh38: Chr20:46012532-46012533	MMP9	P429fs	not provided, Metaphyseal anadysplasia 2	Conflicting interpretations of pathogenicity (Oct 19, 2022)	criteria provided, conflicting interpretations
Select item 33856434.	NM_004994.3(MMP9):c.*189C>T GRCh37: Chr20:44645196 GRCh38: Chr20:46016557	LOC100128028, MMP9, SLC12A5-AS1		Metaphyseal anadysplasia 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33856335.	NM_004994.3(MMP9):c.*146T>C GRCh37: Chr20:44645153 GRCh38: Chr20:46016514	LOC100128028, MMP9, SLC12A5-AS1		Metaphyseal anadysplasia 2, not provided	Benign (Mar 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 33856236.	NM_004994.3(MMP9):c.*3C>T GRCh37: Chr20:44645010 GRCh38: Chr20:46016371	LOC100128028, MMP9, SLC12A5-AS1		Metaphyseal anadysplasia 2, not provided	Benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33856137.	NM_004994.3(MMP9):c.2082G>A (p.Val694=) GRCh37: Chr20:44644965 GRCh38: Chr20:46016326	LOC100128028, MMP9, SLC12A5-AS1		Metaphyseal anadysplasia 2, not provided	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33856038.	NM_004994.3(MMP9):c.2042G>A (p.Arg681His) GRCh37: Chr20:44644925 GRCh38: Chr20:46016286	LOC100128028, MMP9, SLC12A5-AS1	R681H	Metaphyseal anadysplasia 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33855939.	NM_004994.3(MMP9):c.2003G>A (p.Arg668Gln) GRCh37: Chr20:44643111 GRCh38: Chr20:46014472	LOC100128028, MMP9, SLC12A5-AS1	R668Q	Metaphyseal anadysplasia 2, not specified, not provided	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33855840.	NM_004994.3(MMP9):c.1891C>A (p.Arg631Ser) GRCh37: Chr20:44642903 GRCh38: Chr20:46014264	LOC100128028, MMP9, SLC12A5-AS1	R631S	Metaphyseal anadysplasia 2, not provided	Conflicting interpretations of pathogenicity (Sep 9, 2022)	criteria provided, conflicting interpretations
Select item 33855741.	NM_004994.3(MMP9):c.1671C>A (p.Ala557=) GRCh37: Chr20:44642356 GRCh38: Chr20:46013717	MMP9, SLC12A5-AS1, LOC100128028		Metaphyseal anadysplasia 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33855642.	NM_004994.3(MMP9):c.1331-11T>A GRCh37: Chr20:44641883 GRCh38: Chr20:46013244	MMP9		Metaphyseal anadysplasia 2, not provided	Benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33855543.	NM_004994.3(MMP9):c.1174+14C>T GRCh37: Chr20:44640966 GRCh38: Chr20:46012327	MMP9		Metaphyseal anadysplasia 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33855444.	NM_004994.3(MMP9):c.1174+7G>A GRCh37: Chr20:44640959 GRCh38: Chr20:46012320	MMP9		Metaphyseal anadysplasia 2, not provided	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33855345.	NM_004994.3(MMP9):c.997+5C>T GRCh37: Chr20:44640391 GRCh38: Chr20:46011752	MMP9		Metaphyseal anadysplasia 2, not provided	Benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33855246.	NM_004994.3(MMP9):c.906C>A (p.Cys302Ter) GRCh37: Chr20:44640295 GRCh38: Chr20:46011656	MMP9	C302*	Metaphyseal anadysplasia 2, not provided	Conflicting interpretations of pathogenicity (Jun 4, 2022)	criteria provided, conflicting interpretations
Select item 33855147.	NM_004994.3(MMP9):c.878T>A (p.Ile293Asn) GRCh37: Chr20:44640267 GRCh38: Chr20:46011628	MMP9	I293N	Metaphyseal anadysplasia 2, not provided	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33855048.	NM_004994.3(MMP9):c.836A>G (p.Gln279Arg) GRCh37: Chr20:44640225 GRCh38: Chr20:46011586	MMP9	Q279R	not provided, Metaphyseal anadysplasia 2	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33854949.	NM_004994.3(MMP9):c.716G>A (p.Arg239His) GRCh37: Chr20:44639848 GRCh38: Chr20:46011209	MMP9	R239H	not provided, Metaphyseal anadysplasia 2	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33854850.	NM_004994.3(MMP9):c.649+3G>T GRCh37: Chr20:44639692 GRCh38: Chr20:46011053	MMP9		not specified, not provided, Metaphyseal anadysplasia 2	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33854751.	NM_004994.3(MMP9):c.464C>T (p.Thr155Ile) GRCh37: Chr20:44639214 GRCh38: Chr20:46010575	MMP9	T155I	not provided, Metaphyseal anadysplasia 2	Uncertain significance (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33854652.	NM_004994.3(MMP9):c.59C>T (p.Ala20Val) GRCh37: Chr20:44637624 GRCh38: Chr20:46008985	MMP9	A20V	Metaphyseal anadysplasia 2, not provided	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33854553.	NM_004994.3(MMP9):c.58G>A (p.Ala20Thr) GRCh37: Chr20:44637623 GRCh38: Chr20:46008984	MMP9	A20T	Metaphyseal anadysplasia 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33854454.	NM_004994.3(MMP9):c.45C>T (p.Gly15=) GRCh37: Chr20:44637610 GRCh38: Chr20:46008971	MMP9		Metaphyseal anadysplasia 2, not provided	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28536355.	NM_004994.3(MMP9):c.1821A>C (p.Gly607=) GRCh37: Chr20:44642833 GRCh38: Chr20:46014194	MMP9, SLC12A5-AS1, LOC100128028		not specified, not provided, Metaphyseal anadysplasia 2	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28434356.	NM_004994.3(MMP9):c.773C>T (p.Thr258Ile) GRCh37: Chr20:44639905 GRCh38: Chr20:46011266	MMP9	T258I	not provided, Metaphyseal anadysplasia 2	Conflicting interpretations of pathogenicity (Oct 26, 2022)	criteria provided, conflicting interpretations
Select item 28336457.	NM_004994.3(MMP9):c.1414C>T (p.Pro472Ser) GRCh37: Chr20:44641977 GRCh38: Chr20:46013338	MMP9	P472S	not provided, Metaphyseal anadysplasia 2	Uncertain significance (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28209358.	NM_004994.3(MMP9):c.1721G>C (p.Arg574Pro) GRCh37: Chr20:44642406 GRCh38: Chr20:46013767	LOC100128028, MMP9, SLC12A5-AS1	R574P	not specified, not provided, Metaphyseal anadysplasia 2	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19817959.	NM_004994.3(MMP9):c.886G>A (p.Gly296Ser) GRCh37: Chr20:44640275 GRCh38: Chr20:46011636	MMP9	G296S	not provided, Metaphyseal anadysplasia 2	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 1710760.	NM_004994.3(MMP9):c.2T>A (p.Met1Lys) GRCh37: Chr20:44637567 GRCh38: Chr20:46008928	MMP9	M1K	not provided, Metaphyseal anadysplasia 2	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 60