9313[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 147379	GRCh38/hg38 11q22.1-22.3(chr11:98357901-106059146)x1	LOC132089949, LOC132089950 +149 more	Copy number loss	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 147688	GRCh38/hg38 11q22.1-22.3(chr11:101452984-104044105)x3	ANGPTL5, BIRC2 +73 more	Copy number gain	See cases	GPathogenic
Select item 301930	NM_004771.4(MMP20):c.*484T>C	MMP20	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 880327	NM_004771.4(MMP20):c.*481A>G	MMP20	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 301931	NM_004771.4(MMP20):c.*465A>G	MMP20	Single nucleotide variant (3 prime UTR variant)	Amelogenesis Imperfecta, Recessive	GUncertain significance
Select item 880328	NM_004771.4(MMP20):c.*427A>T	MMP20	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 880329	NM_004771.4(MMP20):c.*412G>A	MMP20	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 880330	NM_004771.4(MMP20):c.*299G>A	MMP20	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 880331	NM_004771.4(MMP20):c.*268T>C	MMP20	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 880332	NM_004771.4(MMP20):c.*227A>C	MMP20	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta hypomaturation type 2A2 +1 more	GBenign
Select item 301932	NM_004771.4(MMP20):c.*110A>T	MMP20	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 301933	NM_004771.4(MMP20):c.1430C>G (p.Ser477Cys)	MMP20 (S477C)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 877551	NM_004771.4(MMP20):c.1424T>C (p.Val475Ala)	MMP20 (V475A)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 301934	NM_004771.4(MMP20):c.1422G>A (p.Val474=)	MMP20	Single nucleotide variant (synonymous variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 877552	NM_004771.4(MMP20):c.1418G>A (p.Ser473Asn)	MMP20 (S473N)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta hypomaturation type 2A2	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 877553	NM_004771.4(MMP20):c.1366T>C (p.Phe456Leu)	MMP20 (F456L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 1262923	NM_004771.4(MMP20):c.1352-99T>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 1266612	NM_004771.4(MMP20):c.1351+275GTTTTTT[2]	MMP20	Microsatellite (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 1278244	NM_004771.4(MMP20):c.1351+247GT[7]	MMP20	Microsatellite (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 1280440	NM_004771.4(MMP20):c.1351+219GTTT[6]	MMP20	Microsatellite (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 3160189	NM_004771.4(MMP20):c.1330G>A (p.Asp444Asn)	MMP20 (D444N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 770979	NM_004771.4(MMP20):c.1313G>C (p.Gly438Ala)	MMP20 (G438A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 877554	NM_004771.4(MMP20):c.1296T>C (p.Thr432=)	MMP20	Single nucleotide variant (synonymous variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 878575	NM_004771.4(MMP20):c.1287A>G (p.Pro429=)	MMP20	Single nucleotide variant (synonymous variant)	Amelogenesis imperfecta hypomaturation type 2A2	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 1224930	NM_004771.4(MMP20):c.1248-58A>G	MMP20	Single nucleotide variant (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 1283839	NM_004771.4(MMP20):c.1248-259G>A	MMP20	Single nucleotide variant (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 1286460	NM_004771.4(MMP20):c.1247+220T>C	MMP20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 301935	NM_004771.4(MMP20):c.1247+8T>C	MMP20	Single nucleotide variant (intron variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 301936	NM_004771.4(MMP20):c.1219C>T (p.Leu407Phe)	MMP20 (L407F)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta hypomaturation type 2A2	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 2312993	NM_004771.4(MMP20):c.1171G>A (p.Val391Met)	MMP20 (V391M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 560224	NM_004771.4(MMP20):c.1139G>A (p.Arg380Gln)	MMP20 (R380Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 56	GUncertain significance
Select item 301937	NM_004771.4(MMP20):c.1136C>T (p.Pro379Leu)	MMP20 (P379L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 878576	NM_004771.4(MMP20):c.1108A>G (p.Thr370Ala)	MMP20 (T370A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 1241687	NM_004771.4(MMP20):c.1090+126G>A	MMP20	Single nucleotide variant (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 878577	NM_004771.4(MMP20):c.1053C>T (p.Tyr351=)	MMP20	Single nucleotide variant (synonymous variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
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 2279993	NM_004771.4(MMP20):c.1027C>A (p.Leu343Ile)	MMP20 (L343I)	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 2232414	NM_004771.4(MMP20):c.992T>C (p.Ile331Thr)	MMP20 (I331T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2473894	NM_004771.4(MMP20):c.981G>T (p.Leu327Phe)	MMP20 (L327F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2509041	NM_004771.4(MMP20):c.967C>T (p.Arg323Trp)	MMP20 (R323W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 5428	NM_004771.4(MMP20):c.954-2A>T	MMP20	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 301938	NM_004771.4(MMP20):c.954-11del	MMP20	Deletion (intron variant)	Amelogenesis Imperfecta, Recessive	GUncertain significance
Select item 301939	NM_004771.4(MMP20):c.954-13del	MMP20	Deletion (intron variant)	Amelogenesis Imperfecta, Recessive	GUncertain significance
Select item 301940	NM_004771.4(MMP20):c.954-15_954-14del	MMP20	Deletion (intron variant)	Amelogenesis Imperfecta, Recessive	GUncertain significance
Select item 1295096	NM_004771.4(MMP20):c.954-17_954-15del	MMP20	Deletion (intron variant)	not provided	GBenign
Select item 1226722	NM_004771.4(MMP20):c.954-15del	MMP20	Deletion (intron variant)	not provided	GBenign
Select item 301941	NM_004771.4(MMP20):c.954-16_954-15del	MMP20	Deletion (intron variant)	Amelogenesis Imperfecta, Recessive +1 more	GBenign
Select item 1233873	NM_004771.4(MMP20):c.954-155_954-152del	MMP20	Deletion (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 162146	NM_004771.4(MMP20):c.954-4768T>C	MMP20	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 1801415	NM_004771.4(MMP20):c.953+5103_953+5414del	MMP20	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 1271251	NM_004771.4(MMP20):c.953+307G>C	MMP20	Single nucleotide variant (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 1225318	NM_004771.4(MMP20):c.953+134T>G	MMP20	Single nucleotide variant (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 2387466	NM_004771.4(MMP20):c.952C>T (p.Arg318Trp)	MMP20 (R318W)	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 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 301942	NM_004771.4(MMP20):c.910G>A (p.Ala304Thr)	MMP20 (A304T)	Single nucleotide variant (missense variant)	not provided +1 more	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 301943	NM_004771.4(MMP20):c.883C>G (p.Leu295Val)	MMP20 (L295V)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta hypomaturation type 2A2 +2 more	GUncertain significance
Select item 781031	NM_004771.4(MMP20):c.870A>T (p.Pro290=)	MMP20	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 879170	NM_004771.4(MMP20):c.855C>A (p.Ala285=)	MMP20	Single nucleotide variant (synonymous variant)	Amelogenesis imperfecta hypomaturation type 2A2	GUncertain significance
Select item 259542	NM_004771.4(MMP20):c.842C>A (p.Thr281Asn)	MMP20 (T281N)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta hypomaturation type 2A2 +2 more	GBenign
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 259541	NM_004771.4(MMP20):c.824T>C (p.Val275Ala)	MMP20 (V275A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
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 2482204	NM_004771.4(MMP20):c.817C>T (p.Arg273Trp)	MMP20 (R273W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1282939	NM_004771.4(MMP20):c.812-108A>G	MMP20	Single nucleotide variant (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 1253689	NM_004771.4(MMP20):c.812-234C>T	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 1264163	NM_004771.4(MMP20):c.811+245_811+246insTTT	MMP20	Insertion (intron variant)	not provided	GBenign
Select item 1275519	NM_004771.4(MMP20):c.811+244_811+245insT	MMP20	Insertion (intron variant)	not provided	GBenign

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