7010[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	ACER2, ACO1 +1005 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	LOC132089671, LOC132089672 +1213 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	HRCT1, IFNA1 +1061 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	ABHD17B, ACER2 +1119 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	ACER2, ACO1 +882 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LINC03026, LINC03041 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153184	GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4	ACER2, ADAMTSL1 +484 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150819	GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3	ACER2, ADAMTSL1 +458 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001672, LOC130001673 +983 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	DMAC1, DMRT1 +898 more	Copy number gain	See cases	GPathogenic
Select item 150116	GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3	LOC126860601, LOC126860602 +581 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	ACER2, ACO1 +979 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LINC03041, LINC03106 +898 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59839	GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3	ACER2, ACO1 +538 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	LOC126860576, LOC126860577 +897 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LOC130001469, LOC130001470 +898 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +893 more	Copy number gain	See cases	GPathogenic
Select item 144555	GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3	ACER2, ADAMTSL1 +461 more	Copy number gain	See cases	GPathogenic
Select item 147501	GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3	ACER2, ADAMTSL1 +355 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ERVFRD-3, FAM219A +585 more	Copy number gain	See cases	GPathogenic
Select item 59878	GRCh38/hg38 9p23-21.1(chr9:9543538-30266463)x3	ACER2, ADAMTSL1 +243 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	ACER2, ACO1 +690 more	Copy number gain	See cases	GPathogenic
Select item 151162	GRCh38/hg38 9p22.1-21.1(chr9:19564275-28106622)x1	C9orf72, CAAP1 +136 more	Copy number loss	See cases	GPathogenic
Select item 1223054	NC_000009.12:g.27108812G>T	TEK	Single nucleotide variant	not provided	GBenign
Select item 1233757	NC_000009.12:g.27108977C>T	TEK	Single nucleotide variant	not provided	GBenign
Select item 366385	NM_000459.4(TEK):c.-425A>G	TEK	Single nucleotide variant (5 prime UTR variant)	Multiple cutaneous and mucosal venous malformations	GLikely benign
Select item 366386	NM_000459.5(TEK):c.-354A>G	TEK	Single nucleotide variant (5 prime UTR variant)	Multiple cutaneous and mucosal venous malformations	GUncertain significance
Select item 366387	NM_000459.5(TEK):c.-326A>G	TEK	Single nucleotide variant (5 prime UTR variant)	Multiple cutaneous and mucosal venous malformations	GUncertain significance
Select item 366388	NM_000459.5(TEK):c.-275dup	TEK	Duplication (5 prime UTR variant)	Multiple cutaneous and mucosal venous malformations	GBenign
Select item 366389	NM_000459.5(TEK):c.-96G>A	TEK	Single nucleotide variant (5 prime UTR variant)	Multiple cutaneous and mucosal venous malformations	GUncertain significance
Select item 366390	NM_000459.5(TEK):c.-21G>A	TEK	Single nucleotide variant (5 prime UTR variant)	Multiple cutaneous and mucosal venous malformations	GBenign
Select item 913742	NM_000459.5(TEK):c.12A>C (p.Leu4Phe)	TEK (L4F)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations	GBenign
Select item 1333692	NM_000459.5(TEK):c.32G>A (p.Gly11Glu)	TEK (G11E)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, E	GUncertain significance
Select item 1918899	NM_000459.5(TEK):c.38G>T (p.Ser13Ile)	TEK (S13I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2384790	NM_000459.5(TEK):c.50C>G (p.Ser17Cys)	TEK (S17C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2571330	NM_000459.5(TEK):c.59T>C (p.Val20Ala)	TEK (V20A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1383670	NM_000459.5(TEK):c.86T>C (p.Ile29Thr)	TEK (I29T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 366391	NM_000459.5(TEK):c.138C>T (p.Ala46=)	TEK	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1333491	NM_000459.5(TEK):c.154dup (p.His52fs)	TEK (H52fs)	Duplication (frameshift variant +1 more)	Glaucoma 3, primary congenital, E	GLikely pathogenic
Select item 2410753	NM_000459.5(TEK):c.158A>T (p.Glu53Val)	TEK (E53V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3049125	NM_000459.5(TEK):c.213G>A (p.Pro71=)	TEK	Single nucleotide variant (synonymous variant +1 more)	TEK-related condition	GLikely benign
Select item 2311439	NM_000459.5(TEK):c.232G>A (p.Val78Met)	TEK (V78M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2884778	NM_000459.5(TEK):c.233T>C (p.Val78Ala)	TEK (V78A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 366392	NM_000459.5(TEK):c.234G>A (p.Val78=)	TEK	Single nucleotide variant (synonymous variant +1 more)	Multiple cutaneous and mucosal venous malformations +1 more	GBenign
Select item 2216873	NM_000459.5(TEK):c.244T>C (p.Trp82Arg)	TEK (W82R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2260009	NM_000459.5(TEK):c.256G>A (p.Val86Ile)	TEK (V86I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 913743	NM_000459.5(TEK):c.267G>T (p.Lys89Asn)	TEK (K89N)	Single nucleotide variant (missense variant +1 more)	Multiple cutaneous and mucosal venous malformations +1 more	GConflicting classifications of pathogenicity
Select item 503879	NM_000459.5(TEK):c.270_271delinsGC (p.Glu91Gln)	TEK (E91Q)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 2512168	NM_000459.5(TEK):c.271G>C (p.Glu91Gln)	TEK (E91Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 366393	NM_000459.5(TEK):c.309A>C (p.Glu103Asp)	TEK (E103D)	Single nucleotide variant (missense variant +1 more)	TEK-related condition +3 more	GConflicting classifications of pathogenicity
Select item 2269775	NM_000459.5(TEK):c.316G>A (p.Val106Ile)	TEK (V106I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3175723	NM_000459.5(TEK):c.356G>A (p.Arg119His)	TEK (R119H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1295526	NM_000459.5(TEK):c.365-178G>A	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230329	NM_000459.5(TEK):c.365-60A>G	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280307	NM_000459.5(TEK):c.365-25G>A	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1330708	NM_000459.5(TEK):c.365-19G>A	TEK	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 913744	NM_000459.5(TEK):c.365-5A>G	TEK	Single nucleotide variant (intron variant)	Multiple cutaneous and mucosal venous malformations	GUncertain significance
Select item 2069173	NM_000459.5(TEK):c.369C>T (p.Ser123=)	TEK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736779	NM_000459.5(TEK):c.414C>T (p.Asn138=)	TEK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2232147	NM_000459.5(TEK):c.420C>A (p.Asn140Lys)	TEK (N140K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582395	NM_000459.5(TEK):c.434del (p.Lys145fs)	TEK (K145fs +1 more)	Deletion (frameshift variant)	Glaucoma 3, primary congenital, E	GLikely pathogenic
Select item 366395	NM_000459.5(TEK):c.443T>C (p.Ile148Thr)	TEK (I148T +1 more)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations +1 more	GBenign
Select item 2631025	NM_000459.5(TEK):c.447AGA[2] (p.Glu151del)	TEK (E151del +1 more)	Microsatellite (inframe_indel +1 more)	TEK-related condition	GUncertain significance
Select item 3175724	NM_000459.5(TEK):c.448G>A (p.Glu150Lys)	TEK (E150K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 374839	NM_000459.5(TEK):c.448G>T (p.Glu150Ter)	TEK (E150* +1 more)	Single nucleotide variant (nonsense)	Glaucoma 3, primary congenital, E	GPathogenic
Select item 1333408	NM_000459.5(TEK):c.470_471insTGGT (p.Lys157fs)	TEK (K157fs +1 more)	Insertion (frameshift variant)	Glaucoma 3, primary congenital, E	GLikely pathogenic
Select item 1295527	NM_000459.5(TEK):c.475+101T>C	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 914142	NM_000459.5(TEK):c.484A>T (p.Ile162Phe)	TEK (I162F +1 more)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations	GLikely benign
Select item 2273109	NM_000459.5(TEK):c.548C>T (p.Pro183Leu)	TEK (P183L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 804257	NM_000459.5(TEK):c.578A>G (p.Tyr193Cys)	TEK (Y193C +1 more)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, E	GLikely pathogenic
Select item 366396	NM_000459.5(TEK):c.677C>T (p.Ala226Val)	TEK (A226V +1 more)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations +1 more	GBenign/Likely benign
Select item 3175725	NM_000459.5(TEK):c.706G>A (p.Asp236Asn)	TEK (D236N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 932603	NM_000459.5(TEK):c.728C>T (p.Pro243Leu)	TEK (P139L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 778425	NM_000459.5(TEK):c.750G>A (p.Thr250=)	TEK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 914143	NM_000459.5(TEK):c.760+5G>T	TEK	Single nucleotide variant (intron variant)	Multiple cutaneous and mucosal venous malformations	GLikely benign
Select item 1272246	NM_000459.5(TEK):c.760+93C>A	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238504	NM_000459.5(TEK):c.761-158G>T	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261901	NM_000459.5(TEK):c.761-140G>A	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295525	NM_000459.5(TEK):c.761-138A>G	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239437	NM_000459.5(TEK):c.761-40C>T	TEK	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 3050801	NM_000459.5(TEK):c.761-14_761-10del	TEK	Microsatellite (intron variant)	TEK-related condition	GLikely benign
Select item 914144	NM_000459.5(TEK):c.776C>T (p.Thr259Met)	TEK (T259M +1 more)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations	GBenign
Select item 2878534	NM_000459.5(TEK):c.806G>T (p.Ser269Ile)	TEK (S165I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2226463	NM_000459.5(TEK):c.809G>A (p.Gly270Glu)	TEK (G270E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1333386	NM_000459.5(TEK):c.857G>T (p.Gly286Val)	TEK (G182V +1 more)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, E	GUncertain significance
Select item 618422	NM_000459.5(TEK):c.858G>T (p.Gly286=)	TEK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1986336	NM_000459.5(TEK):c.880A>C (p.Lys294Gln)	TEK (K294Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 914145	NM_000459.5(TEK):c.882G>C (p.Lys294Asn)	TEK (K190N +1 more)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations	GBenign
Select item 1258472	NM_000459.5(TEK):c.901+69T>C	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 366414	NM_000459.5(TEK):c.902-10C>T	TEK	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1367960	NM_000459.5(TEK):c.911C>T (p.Pro304Leu)	TEK (P304L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign

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