ClinVar for Gene (Select 4313) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336911	NM_004530.6(MMP2):c.1188C>A (p.Ser396Arg)	MMP2 (S320R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3295320	NM_004530.6(MMP2):c.277A>G (p.Thr93Ala)	MMP2 (T93A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3295319	NM_004530.6(MMP2):c.1270A>G (p.Ile424Val)	MMP2 (I348V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3295317	NM_004530.6(MMP2):c.983A>C (p.Lys328Thr)	MMP2 (K252T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3295316	NM_004530.6(MMP2):c.1523T>C (p.Leu508Pro)	MMP2 (L432P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3295315	NM_004530.6(MMP2):c.293G>A (p.Arg98Gln)	MMP2 (R48Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3253283	NM_004530.6(MMP2):c.1110C>A (p.Asp370Glu)	MMP2 (D294E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234889	NM_004530.6(MMP2):c.488A>G (p.His163Arg)	MMP2 (H113R +2 more)	Single nucleotide variant (missense variant)	Multicentric osteolysis, nodulosis, and arthropathy	GUncertain significance
Select item 3234888	NM_004530.6(MMP2):c.1345C>T (p.Pro449Ser)	MMP2 (P373S +2 more)	Single nucleotide variant (missense variant)	Multicentric osteolysis, nodulosis, and arthropathy	GUncertain significance
Select item 3159713	NM_004530.6(MMP2):c.814G>A (p.Gly272Ser)	MMP2 (G196S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3159691	NM_004530.6(MMP2):c.810G>C (p.Lys270Asn)	MMP2 (K194N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3159643	NM_004530.6(MMP2):c.802G>A (p.Asp268Asn)	MMP2 (D192N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3159402	NM_004530.6(MMP2):c.604G>C (p.Gly202Arg)	MMP2 (G202R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3159371	NM_004530.6(MMP2):c.598G>A (p.Gly200Ser)	MMP2 (G200S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3159183	NM_004530.6(MMP2):c.254A>T (p.Gln85Leu)	MMP2 (Q85L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158814	NM_004530.6(MMP2):c.1541C>T (p.Pro514Leu)	MMP2 (P464L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158599	NM_004530.6(MMP2):c.1152C>G (p.Asp384Glu)	MMP2 (D308E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063467	GRCh37/hg19 16q12.2-22.1(chr16:55329260-67180113)x1	ADGRG1, ADGRG3 +85 more	Copy number loss	not specified	GPathogenic
Select item 3046507	NM_004530.6(MMP2):c.501A>G (p.Ala167=)	MMP2	Single nucleotide variant (synonymous variant)	MMP2-related disorder	GLikely benign
Select item 3022880	NM_004530.6(MMP2):c.833-19C>T	MMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003362	NM_004530.6(MMP2):c.1081G>T (p.Glu361Ter)	MMP2 (E285* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2972770	NM_004530.6(MMP2):c.43A>C (p.Arg15=)	MMP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2970509	NM_004530.6(MMP2):c.380+15C>A	MMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968336	NM_004530.6(MMP2):c.1176C>T (p.Asp392=)	MMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959515	NM_004530.6(MMP2):c.833-15C>T	MMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956597	NM_004530.6(MMP2):c.380+9G>T	MMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2905351	NM_004530.6(MMP2):c.903C>T (p.Ser301=)	MMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900837	NM_004530.6(MMP2):c.1880-7A>G	MMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2892540	NM_004530.6(MMP2):c.765C>T (p.Gly255=)	MMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890851	NM_004530.6(MMP2):c.1848C>T (p.Asn616=)	MMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885487	NM_004530.6(MMP2):c.1254G>A (p.Gly418=)	MMP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2885273	NM_004530.6(MMP2):c.1875C>T (p.Gly625=)	MMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2839614	NM_004530.6(MMP2):c.513C>T (p.Ile171=)	MMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2833860	NM_004530.6(MMP2):c.250C>T (p.Pro84Ser)	MMP2 (P84S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2817125	NM_004530.6(MMP2):c.1336+11G>T	MMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2801096	NM_004530.6(MMP2):c.154-20G>C	MMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778588	NM_004530.6(MMP2):c.658+19G>A	MMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2737167	NM_004530.6(MMP2):c.1336+8T>C	MMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2716015	NM_004530.6(MMP2):c.585C>T (p.Phe195=)	MMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646536	NM_004530.6(MMP2):c.762T>C (p.Asp254=)	MMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636522	NM_004530.6(MMP2):c.1336+2T>G	MMP2	Single nucleotide variant (splice donor variant)	MMP2-related disorder	GLikely pathogenic
Select item 2613696	NM_004530.6(MMP2):c.1153C>T (p.Arg385Cys)	MMP2 (R385C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601730	NM_004530.6(MMP2):c.283G>A (p.Glu95Lys)	MMP2 (E19K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594705	NM_004530.6(MMP2):c.457G>A (p.Asp153Asn)	MMP2 (D153N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511946	NM_004530.6(MMP2):c.524G>T (p.Arg175Leu)	MMP2 (R99L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2426110	NC_000016.9:g.(?_53635988)_(55539614_?)del	FTO, IRX3 +4 more	Deletion	Meckel-Gruber syndrome +1 more	GPathogenic
Select item 2421565	NM_004530.6(MMP2):c.1738A>G (p.Thr580Ala)	MMP2 (T504A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2418434	NM_004530.6(MMP2):c.474G>T (p.Arg158=)	MMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2411160	NM_004530.6(MMP2):c.749C>A (p.Thr250Asn)	MMP2 (T200N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403719	NM_004530.6(MMP2):c.755G>A (p.Arg252His)	MMP2 (R202H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393988	NM_004530.6(MMP2):c.1339G>T (p.Ala447Ser)	MMP2 (A397S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330446	NM_004530.6(MMP2):c.427G>T (p.Ala143Ser)	MMP2 (A143S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328573	NM_004530.6(MMP2):c.1877G>A (p.Gly626Asp)	MMP2 (G576D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314920	NM_004530.6(MMP2):c.1295G>C (p.Arg432Pro)	MMP2 (R356P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309800	NM_004530.6(MMP2):c.788A>C (p.Tyr263Ser)	MMP2 (Y187S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304555	NM_004530.6(MMP2):c.1921G>C (p.Glu641Gln)	MMP2 (E641Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266634	NM_004530.6(MMP2):c.1546C>T (p.Leu516Phe)	MMP2 (L440F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252645	NM_004530.6(MMP2):c.956C>A (p.Thr319Asn)	MMP2 (T243N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252432	NM_004530.6(MMP2):c.1087T>G (p.Cys363Gly)	MMP2 (C287G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250703	NM_004530.6(MMP2):c.188A>G (p.Glu63Gly)	MMP2 (E13G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2220375	NM_004530.6(MMP2):c.647G>A (p.Gly216Glu)	MMP2 (G166E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211825	NM_004530.6(MMP2):c.224A>T (p.Lys75Met)	MMP2 (K25M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210876	NM_004530.6(MMP2):c.1649G>A (p.Arg550Gln)	MMP2 (R500Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2192443	NM_004530.6(MMP2):c.1659C>T (p.Pro553=)	MMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2183676	NM_004530.6(MMP2):c.1573G>A (p.Glu525Lys)	MMP2 (E449K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2179994	NM_004530.6(MMP2):c.1080T>C (p.Tyr360=)	MMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2176148	NM_004530.6(MMP2):c.473G>A (p.Arg158Gln)	MMP2 (R108Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170978	NM_004530.6(MMP2):c.975C>T (p.Arg325=)	MMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2168908	NM_004530.6(MMP2):c.23G>A (p.Gly8Asp)	MMP2 (G8D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2164935	NM_004530.6(MMP2):c.1751C>T (p.Ala584Val)	MMP2 (A508V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2137812	NM_004530.6(MMP2):c.856G>A (p.Ala286Thr)	MMP2 (A210T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2098690	NM_004530.6(MMP2):c.693G>A (p.Glu231=)	MMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2089123	NM_004530.6(MMP2):c.170T>C (p.Phe57Ser)	MMP2 (F7S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2084199	NM_004530.6(MMP2):c.863G>C (p.Gly288Ala)	MMP2 (G238A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2082094	NM_004530.6(MMP2):c.1770-1_1774del	MMP2	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2077080	NM_004530.6(MMP2):c.499G>A (p.Ala167Thr)	MMP2 (A117T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2067789	NM_004530.6(MMP2):c.1073A>G (p.Asn358Ser)	MMP2 (N358S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2055669	NM_004530.6(MMP2):c.124G>T (p.Ala42Ser)	MMP2 (A42S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2048391	NM_004530.6(MMP2):c.1645G>A (p.Glu549Lys)	MMP2 (E473K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2043520	NM_004530.6(MMP2):c.1336+10C>A	MMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2033727	NM_004530.6(MMP2):c.1524G>T (p.Leu508=)	MMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2031305	NM_004530.6(MMP2):c.1743_1744dup (p.Ile582fs)	MMP2 (I532fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2027524	NM_004530.6(MMP2):c.1260G>A (p.Leu420=)	MMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2020056	NM_004530.6(MMP2):c.442T>C (p.Phe148Leu)	MMP2 (F98L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2014632	NM_004530.6(MMP2):c.458A>G (p.Asp153Gly)	MMP2 (D103G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2005911	NM_004530.6(MMP2):c.603T>C (p.Val201=)	MMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2002936	NM_004530.6(MMP2):c.1043C>G (p.Pro348Arg)	MMP2 (P298R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1989507	NM_004530.6(MMP2):c.380+11A>G	MMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988896	NM_004530.6(MMP2):c.381-9C>T	MMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1982489	NM_004530.6(MMP2):c.1588G>A (p.Glu530Lys)	MMP2 (E454K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1981244	NM_004530.6(MMP2):c.1876G>A (p.Gly626Ser)	MMP2 (G576S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1980978	NM_004530.6(MMP2):c.976G>A (p.Asp326Asn)	MMP2 (D250N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1980571	NM_004530.6(MMP2):c.1471C>T (p.Arg491Trp)	MMP2 (R491W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1980269	NM_004530.6(MMP2):c.832+18T>A	MMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1980175	NM_004530.6(MMP2):c.658+20del	MMP2	Deletion (intron variant)	not provided	GLikely benign
Select item 1974855	NM_004530.6(MMP2):c.833-11C>T	MMP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1967032	NM_004530.6(MMP2):c.1_2del (p.Met1fs)	MMP2 (M1fs)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 1966055	NM_004530.6(MMP2):c.32C>T (p.Thr11Met)	MMP2 (T11M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1963414	NM_004530.6(MMP2):c.513C>A (p.Ile171=)	MMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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