ClinVar for Gene (Select 9313) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3053808	NM_004771.4(MMP20):c.1251C>T (p.Tyr417=)	MMP20	Single nucleotide variant (synonymous variant)	MMP20-related condition	GLikely benign
Select item 3052668	NM_004771.4(MMP20):c.126+10T>C	MMP20	Single nucleotide variant (intron variant)	MMP20-related condition	GLikely benign
Select item 3050989	NM_004771.4(MMP20):c.409G>A (p.Glu137Lys)	MMP20 (E137K)	Single nucleotide variant (missense variant)	MMP20-related condition	GLikely benign
Select item 3043140	NM_004771.4(MMP20):c.825A>G (p.Val275=)	MMP20	Single nucleotide variant (synonymous variant)	MMP20-related condition	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	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-AS1, 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-AS1, 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, MMP20-AS1 (M68V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342737	NM_004771.4(MMP20):c.818G>A (p.Arg273Gln)	MMP20-AS1, 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-AS1, 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, MMP20-AS1 (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-AS1, 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-AS1, 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	GRIA4, GRIK4 +956 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	PCSK7, PGR +183 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
Select item 1192519	NM_004771.4(MMP20):c.911C>G (p.Ala304Gly)	MMP20 (A304G)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1192518	NM_004771.4(MMP20):c.1046C>T (p.Ala349Val)	MMP20 (A349V)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1192505	NM_004771.4(MMP20):c.[1046C>T;911C>G]	MMP20 (A349V +1 more)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta hypomaturation type 2A2	GPathogenic
Select item 1183133	NM_004771.4(MMP20):c.1091-125G>A	MMP20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180416	NM_004771.4(MMP20):c.1090+201G>C	MMP20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	PIH1D2, PIWIL4 +95 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 917993	NM_004771.4(MMP20):c.809_811+12delinsCCAG	MMP20, MMP20-AS1	Indel (splice donor variant)	Amelogenesis imperfecta hypomaturation type 2A2	GPathogenic
Select item 917992	NM_004771.4(MMP20):c.1122A>C (p.Gln374His)	MMP20 (Q374H)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta hypomaturation type 2A2	GPathogenic
Select item 917991	NM_004771.4(MMP20):c.710C>A (p.Ser237Tyr)	MMP20-AS1, MMP20 (S237Y)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta hypomaturation type 2A2	GPathogenic
Select item 917990	NM_004771.4(MMP20):c.625G>C (p.Glu209Gln)	MMP20 (E209Q)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta hypomaturation type 2A2	GLikely pathogenic
Select item 880372	NM_004771.4(MMP20):c.453C>T (p.Ser151=)	MMP20	Single nucleotide variant (synonymous variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 880371	NM_004771.4(MMP20):c.641G>C (p.Gly214Ala)	MMP20 (G214A)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 880370	NM_004771.4(MMP20):c.644C>T (p.Thr215Met)	MMP20 (T215M)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance

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