ClinVar for Gene (Select 9313) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3295325	NM_004771.4(MMP20):c.128C>G (p.Ala43Gly)	MMP20 (A43G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3295324	NM_004771.4(MMP20):c.131A>T (p.Tyr44Phe)	MMP20 (Y44F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3295323	NM_004771.4(MMP20):c.943T>G (p.Phe315Val)	MMP20 (F315V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3295322	NM_004771.4(MMP20):c.494C>A (p.Ala165Glu)	MMP20 (A165E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3295321	NM_004771.4(MMP20):c.68C>T (p.Ala23Val)	MMP20 (A23V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160946	NM_004771.4(MMP20):c.994C>T (p.Arg332Trp)	MMP20 (R332W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160577	NM_004771.4(MMP20):c.670G>A (p.Ala224Thr)	MMP20 (A224T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160557	NM_004771.4(MMP20):c.667G>T (p.Val223Phe)	MMP20 (V223F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160524	NM_004771.4(MMP20):c.657T>A (p.Asn219Lys)	MMP20 (N219K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160470	NM_004771.4(MMP20):c.488G>A (p.Gly163Glu)	MMP20 (G163E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160442	NM_004771.4(MMP20):c.461C>A (p.Pro154His)	MMP20 (P154H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160280	NM_004771.4(MMP20):c.163C>A (p.His55Asn)	MMP20 (H55N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160189	NM_004771.4(MMP20):c.1330G>A (p.Asp444Asn)	MMP20 (D444N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3159971	NM_004771.4(MMP20):c.1279G>A (p.Asp427Asn)	MMP20 (D427N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3053808	NM_004771.4(MMP20):c.1251C>T (p.Tyr417=)	MMP20	Single nucleotide variant (synonymous variant)	MMP20-related disorder	GLikely benign
Select item 3052668	NM_004771.4(MMP20):c.126+10T>C	MMP20	Single nucleotide variant (intron variant)	MMP20-related disorder	GLikely benign
Select item 3050989	NM_004771.4(MMP20):c.409G>A (p.Glu137Lys)	MMP20 (E137K)	Single nucleotide variant (missense variant)	MMP20-related disorder	GLikely benign
Select item 3043140	NM_004771.4(MMP20):c.825A>G (p.Val275=)	MMP20	Single nucleotide variant (synonymous variant)	MMP20-related disorder	GLikely benign
Select item 2684654	GRCh37/hg19 11q21-22.3(chr11:97147292-102979905)x3	ANGPTL5, ARHGAP42 +20 more	Copy number gain	not provided	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2543672	NM_004771.4(MMP20):c.968G>A (p.Arg323Gln)	MMP20 (R323Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540314	NM_004771.4(MMP20):c.1391A>G (p.Tyr464Cys)	MMP20 (Y464C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521322	NM_004771.4(MMP20):c.280G>A (p.Val94Met)	MMP20 (V94M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510525	NM_004771.4(MMP20):c.883C>A (p.Leu295Ile)	MMP20 (L295I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509041	NM_004771.4(MMP20):c.967C>T (p.Arg323Trp)	MMP20 (R323W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2504742	NM_004771.4(MMP20):c.164A>G (p.His55Arg)	MMP20 (H55R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2489899	NM_004771.4(MMP20):c.1322G>A (p.Gly441Asp)	MMP20 (G441D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482204	NM_004771.4(MMP20):c.817C>T (p.Arg273Trp)	MMP20 (R273W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473894	NM_004771.4(MMP20):c.981G>T (p.Leu327Phe)	MMP20 (L327F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462706	NM_004771.4(MMP20):c.1189G>T (p.Ala397Ser)	MMP20 (A397S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454460	NM_004771.4(MMP20):c.121G>A (p.Ala41Thr)	MMP20 (A41T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445443	NM_004771.4(MMP20):c.1126C>T (p.Gln376Ter)	MMP20 (Q376*)	Single nucleotide variant (nonsense)	Amelogenesis imperfecta hypomaturation type 2A2	GLikely pathogenic
Select item 2445442	NM_004771.4(MMP20):c.530G>A (p.Gly177Glu)	MMP20 (G177E)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 2445441	NM_004771.4(MMP20):c.359dup (p.Asn120fs)	MMP20 (N120fs)	Duplication (frameshift variant)	Amelogenesis imperfecta hypomaturation type 2A2	GLikely pathogenic
Select item 2445440	NM_004771.4(MMP20):c.1362C>G (p.Tyr454Ter)	MMP20 (Y454*)	Single nucleotide variant (nonsense)	Amelogenesis imperfecta hypomaturation type 2A2	GLikely pathogenic
Select item 2444100	NM_004771.4(MMP20):c.690T>G (p.His230Gln)	MMP20, MMP20-AS1 (H230Q)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 2427084	NC_000011.9:g.(?_101374735)_(103349981_?)dup	ANGPTL5, BIRC2 +17 more	Duplication	not provided	GUncertain significance
Select item 2399382	NM_004771.4(MMP20):c.983G>A (p.Arg328Gln)	MMP20 (R328Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387466	NM_004771.4(MMP20):c.952C>T (p.Arg318Trp)	MMP20 (R318W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382558	NM_004771.4(MMP20):c.434C>A (p.Ala145Asp)	MMP20 (A145D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376146	NM_004771.4(MMP20):c.202A>G (p.Met68Val)	MMP20 (M68V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342737	NM_004771.4(MMP20):c.818G>A (p.Arg273Gln)	MMP20 (R273Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316295	NM_004771.4(MMP20):c.587G>A (p.Gly196Glu)	MMP20 (G196E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312993	NM_004771.4(MMP20):c.1171G>A (p.Val391Met)	MMP20 (V391M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280504	NM_004771.4(MMP20):c.128C>T (p.Ala43Val)	MMP20 (A43V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279993	NM_004771.4(MMP20):c.1027C>A (p.Leu343Ile)	MMP20 (L343I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258082	NM_004771.4(MMP20):c.127G>C (p.Ala43Pro)	MMP20 (A43P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251366	NM_004771.4(MMP20):c.97A>C (p.Thr33Pro)	MMP20 (T33P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232414	NM_004771.4(MMP20):c.992T>C (p.Ile331Thr)	MMP20 (I331T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809349	GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	AMOTL1, ANGPTL5 +93 more	Copy number loss	not provided	GPathogenic
Select item 1807932	GRCh37/hg19 11q22.1-22.3(chr11:99059204-103281943)x3	ANGPTL5, ARHGAP42 +22 more	Copy number gain	not provided	GUncertain significance
Select item 1807796	GRCh37/hg19 11q22.1-22.3(chr11:98770072-104602846)x1	ANGPTL5, ARHGAP42 +24 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807688	GRCh37/hg19 11q22.1-22.3(chr11:101371503-109306519)x1	ACAT1, ALKBH8 +47 more	Copy number loss	not provided	GPathogenic
Select item 1801415	NM_004771.4(MMP20):c.953+5103_953+5414del	MMP20	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1698209	NM_004771.4(MMP20):c.448A>C (p.Ser150Arg)	MMP20 (S150R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1527667	GRCh37/hg19 11q22.2(chr11:102308740-102676879)	LOC100128088, MMP1 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1455268	NC_000011.9:g.(?_101323686)_(103349981_?)del	ANGPTL5, BIRC2 +17 more	Deletion	not provided	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 1296798	NM_004771.4(MMP20):c.649+215C>T	MMP20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295096	NM_004771.4(MMP20):c.954-17_954-15del	MMP20	Deletion (intron variant)	not provided	GBenign
Select item 1290267	NM_004771.4(MMP20):c.953+40T>C	MMP20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289239	NM_004771.4(MMP20):c.1351+242_1351+243dup	MMP20	Duplication (intron variant)	not provided	GBenign
Select item 1288939	NM_004771.4(MMP20):c.1090+71C>T	MMP20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288199	NM_004771.4(MMP20):c.375-104C>T	MMP20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286460	NM_004771.4(MMP20):c.1247+220T>C	MMP20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283874	NM_004771.4(MMP20):c.1352-327G>A	MMP20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283839	NM_004771.4(MMP20):c.1248-259G>A	MMP20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282939	NM_004771.4(MMP20):c.812-108A>G	MMP20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280440	NM_004771.4(MMP20):c.1351+219GTTT[6]	MMP20	Microsatellite (intron variant)	not provided	GBenign
Select item 1278244	NM_004771.4(MMP20):c.1351+247GT[7]	MMP20	Microsatellite (intron variant)	not provided	GBenign
Select item 1277020	NM_004771.4(MMP20):c.812-149G>A	MMP20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275519	NM_004771.4(MMP20):c.811+244_811+245insT	MMP20	Insertion (intron variant)	not provided	GBenign
Select item 1271251	NM_004771.4(MMP20):c.953+307G>C	MMP20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266612	NM_004771.4(MMP20):c.1351+275GTTTTTT[2]	MMP20	Microsatellite (intron variant)	not provided	GBenign
Select item 1266261	NM_004771.4(MMP20):c.126+180G>A	MMP20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264163	NM_004771.4(MMP20):c.811+245_811+246insTTT	MMP20	Insertion (intron variant)	not provided	GBenign
Select item 1263264	NM_004771.4(MMP20):c.1248-78T>G	MMP20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262923	NM_004771.4(MMP20):c.1352-99T>C	MMP20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262118	NM_004771.4(MMP20):c.126+207C>G	MMP20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261513	NM_004771.4(MMP20):c.524-22G>A	MMP20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253689	NM_004771.4(MMP20):c.812-234C>T	MMP20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252305	NM_004771.4(MMP20):c.126+213G>T	MMP20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250384	NM_004771.4(MMP20):c.1351+275GTTTTTT[3]	MMP20	Microsatellite (intron variant)	not provided	GBenign
Select item 1246849	NM_004771.4(MMP20):c.954-158_954-157insG	MMP20	Insertion (intron variant)	not provided	GBenign
Select item 1246055	NM_004771.4(MMP20):c.953+260T>C	MMP20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244982	NM_004771.4(MMP20):c.953+220A>G	MMP20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241687	NM_004771.4(MMP20):c.1090+126G>A	MMP20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241072	NM_004771.4(MMP20):c.1351+120A>T	MMP20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238048	NM_004771.4(MMP20):c.811+113A>G	MMP20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233873	NM_004771.4(MMP20):c.954-155_954-152del	MMP20	Deletion (intron variant)	not provided	GBenign
Select item 1230506	NM_004771.4(MMP20):c.1248-290G>A	MMP20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228002	NM_004771.4(MMP20):c.811+250A>G	MMP20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227009	NM_004771.4(MMP20):c.524-317C>T	MMP20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226722	NM_004771.4(MMP20):c.954-15del	MMP20	Deletion (intron variant)	not provided	GBenign
Select item 1225318	NM_004771.4(MMP20):c.953+134T>G	MMP20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225145	NM_004771.4(MMP20):c.127-283C>T	MMP20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224930	NM_004771.4(MMP20):c.1248-58A>G	MMP20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222934	NM_004771.4(MMP20):c.811+130T>C	MMP20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221257	NM_004771.4(MMP20):c.811+119A>G	MMP20	Single nucleotide variant (intron variant)	not provided	GBenign

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