TEK[gene] - 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 +1006 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ADGRD2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	FAM95B1, FAM95C +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC129390066, LOC129390067 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860762, LOC126860763 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	LOC124292579, LOC124292580 +3786 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001496, LOC130001497 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	ABHD17B, ACER2 +1120 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	DENND4C, DIPK1B +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA2, ACER2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	ACER2, ACO1 +883 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	ABHD17B, ACER2 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC130001660, LOC130001661 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153184	GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4	LOC130001517, LOC130001518 +484 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LOC126860587, LOC126860588 +3786 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	ACER2, ACO1 +984 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	ACER2, ACO1 +899 more	Copy number gain	See cases	GPathogenic
Select item 150116	GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3	ACER2, ACO1 +582 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	SPATA31A5, SPATA31A6 +980 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LINC01235, LINC01239 +899 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59839	GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3	ACER2, ACO1 +539 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	ACER2, ACO1 +898 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LOC130001820, LOC130001821 +899 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	LOC130001624, LOC130001625 +894 more	Copy number gain	See cases	GPathogenic
Select item 144555	GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3	SLC1A1, SLC24A2 +461 more	Copy number gain	See cases	GPathogenic
Select item 147501	GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3	LOC126860594, LOC126860595 +355 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ACER2, ACO1 +586 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)	SLC24A2, SLC25A51 +691 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	not provided +1 more	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 3325249	NM_000459.5(TEK):c.148C>T (p.Arg50Cys)	TEK (R50C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3345189	NM_000459.5(TEK):c.194T>C (p.Met65Thr)	TEK (M65T)	Single nucleotide variant (missense variant +1 more)	TEK-related disorder	GUncertain significance
Select item 3049125	NM_000459.5(TEK):c.213G>A (p.Pro71=)	TEK	Single nucleotide variant (synonymous variant +1 more)	TEK-related disorder	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)	not provided +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)	Inborn genetic diseases +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)	Multiple cutaneous and mucosal venous malformations +2 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 3325254	NM_000459.5(TEK):c.437T>A (p.Val146Glu)	TEK (V42E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 366395	NM_000459.5(TEK):c.443T>C (p.Ile148Thr)	TEK (I148T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2631025	NM_000459.5(TEK):c.447AGA[2] (p.Glu151del)	TEK (E151del +1 more)	Microsatellite (inframe_deletion +1 more)	TEK-related disorder	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 3236693	NM_000459.5(TEK):c.475+1G>T	TEK	Single nucleotide variant (splice donor 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 3325250	NM_000459.5(TEK):c.665A>T (p.His222Leu)	TEK (H222L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 366396	NM_000459.5(TEK):c.677C>T (p.Ala226Val)	TEK (A226V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3325252	NM_000459.5(TEK):c.695T>C (p.Val232Ala)	TEK (V232A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 disorder	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

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