ClinVar for Gene (Select 7010) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 446

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379851	NM_000459.5(TEK):c.2833G>T (p.Ala945Ser)	TEK (A797S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379850	NM_000459.5(TEK):c.1949T>C (p.Ile650Thr)	TEK (I503T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379849	NM_000459.5(TEK):c.1490-7T>C	TEK	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3376501	NM_000459.5(TEK):c.2491G>T (p.Gly831Trp)	TEK (G683W +4 more)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations +1 more	GLikely pathogenic
Select item 3372974	NM_000459.5(TEK):c.2917G>A (p.Gly973Ser)	TEK (G825S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372230	NM_000459.5(TEK):c.1031-5T>G	TEK	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3368368	NM_000459.5(TEK):c.605C>G (p.Ala202Gly)	TEK (A202G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3346112	NM_000459.5(TEK):c.3307G>A (p.Val1103Met)	TEK (V1059M +4 more)	Single nucleotide variant (missense variant)	TEK-related disorder	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 3343317	NM_000459.5(TEK):c.1328_1329dup (p.Leu444fs)	TEK (L297fs +2 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3340457	NM_000459.5(TEK):c.3324T>G (p.Tyr1108Ter)	TEK (Y1064* +4 more)	Single nucleotide variant (nonsense)	Multiple cutaneous and mucosal venous malformations	GPathogenic
Select item 3340431	NM_000459.5(TEK):c.3338dup (p.Tyr1113Ter)	TEK (Y1069* +4 more)	Duplication (nonsense +1 more)	Multiple cutaneous and mucosal venous malformations	GPathogenic
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 3325253	NM_000459.5(TEK):c.2291T>G (p.Leu764Trp)	TEK (L617W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3325251	NM_000459.5(TEK):c.1055T>C (p.Ile352Thr)	TEK (I352T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 3238638	NM_000459.5(TEK):c.2750G>T (p.Ser917Ile)	TEK (S769I +4 more)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations	GLikely pathogenic
Select item 3238632	NM_000459.5(TEK):c.2865G>C (p.Leu955Phe)	TEK (L807F +4 more)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations	GUncertain significance
Select item 3238631	NM_000459.5(TEK):c.3323_3324insCGTGAATACCACGCTTTATGAGAAGTAGTA (p.Tyr1108_Glu1109insValAsnThrThrLeuTyrGluLysTer)	TEK	Insertion (nonsense +2 more)	Multiple cutaneous and mucosal venous malformations	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 3236691	NM_000459.5(TEK):c.3011G>A (p.Trp1004Ter)	TEK (W1003* +4 more)	Single nucleotide variant (nonsense)	Glaucoma 3, primary congenital, E	GLikely pathogenic
Select item 3235894	NM_000459.5(TEK):c.3200+1G>A	TEK	Single nucleotide variant (splice donor variant)	Glaucoma 3, primary congenital, E	GLikely pathogenic
Select item 3233823	NM_000459.5(TEK):c.1319C>T (p.Ser440Phe)	TEK (S293F +2 more)	Single nucleotide variant (missense variant)	not specified	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 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 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 3175721	NM_000459.5(TEK):c.2174T>C (p.Phe725Ser)	TEK (F578S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175720	NM_000459.5(TEK):c.2012C>A (p.Thr671Asn)	TEK (T671N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175719	NM_000459.5(TEK):c.1604G>A (p.Arg535His)	TEK (R492H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175718	NM_000459.5(TEK):c.1135A>G (p.Thr379Ala)	TEK (T232A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3067803	NM_000459.5(TEK):c.3084A>G (p.Leu1028=)	TEK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3063106	GRCh37/hg19 9p21.2(chr9:27209491-27267535)x1	TEK	Copy number loss	not specified	GLikely pathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3050801	NM_000459.5(TEK):c.761-14_761-10del	TEK	Microsatellite (intron variant)	TEK-related disorder	GLikely benign
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 3048737	NM_000459.5(TEK):c.2712C>T (p.Tyr904=)	TEK	Single nucleotide variant (synonymous variant)	TEK-related disorder	GLikely benign
Select item 3046173	NM_000459.5(TEK):c.*8C>T	TEK	Single nucleotide variant (3 prime UTR variant)	TEK-related disorder	GBenign
Select item 3046101	NM_000459.5(TEK):c.*5G>A	TEK	Single nucleotide variant (3 prime UTR variant)	TEK-related disorder	GBenign
Select item 3034777	NM_000459.5(TEK):c.2878-8A>C	TEK	Single nucleotide variant (intron variant)	TEK-related disorder	GLikely benign
Select item 3025836	NM_000459.5(TEK):c.3306C>T (p.Tyr1102=)	TEK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987604	NM_000459.5(TEK):c.2209+15C>T	TEK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968809	NM_000459.5(TEK):c.1030+6G>A	TEK	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2896316	NM_000459.5(TEK):c.1538A>G (p.Tyr513Cys)	TEK (Y470C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892415	NM_000459.5(TEK):c.1274G>A (p.Ser425Asn)	TEK (S425N +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 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 2871089	NM_000459.5(TEK):c.2617C>T (p.Leu873=)	TEK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869353	NM_000459.5(TEK):c.2128G>A (p.Val710Met)	TEK (V710M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868100	NM_000459.5(TEK):c.2686+8G>C	TEK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2745108	NM_000459.5(TEK):c.3094G>C (p.Val1032Leu)	TEK (V1031L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	CREB3, STOML2 +188 more	Copy number gain	not provided	GPathogenic
Select item 2664276	NM_000459.5(TEK):c.3323_3324del (p.Leu1107_Tyr1108insTer)	TEK	Deletion (nonsense +1 more)	Multiple cutaneous and mucosal venous malformations	GPathogenic
Select item 2662500	NM_000459.5(TEK):c.2161A>G (p.Ser721Gly)	TEK (S574G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659136	NM_000459.5(TEK):c.1949_1950insA (p.Thr651fs)	TEK (T504fs +2 more)	Insertion (frameshift variant)	not provided	GLikely pathogenic
Select item 2659135	NM_000459.5(TEK):c.1294A>T (p.Met432Leu)	TEK (M285L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659134	NM_000459.5(TEK):c.959G>A (p.Gly320Glu)	TEK (G320E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2633325	NM_000459.5(TEK):c.1340C>T (p.Pro447Leu)	TEK (P300L +2 more)	Single nucleotide variant (missense variant)	TEK-related disorder	GUncertain significance
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 2607399	NM_000459.5(TEK):c.2050C>T (p.His684Tyr)	TEK (H684Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593024	NM_000459.5(TEK):c.2304C>G (p.Ile768Met)	TEK (I768M +2 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 2572774	NM_000459.5(TEK):c.3278A>G (p.Asn1093Ser)	TEK (N1049S +4 more)	Single nucleotide variant (missense variant)	not provided	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 2570605	NM_000459.5(TEK):c.2062A>G (p.Lys688Glu)	TEK (K688E +2 more)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, E	GUncertain significance
Select item 2548939	NM_000459.5(TEK):c.2008A>G (p.Ile670Val)	TEK (I670V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548219	NM_000459.5(TEK):c.2848C>G (p.Arg950Gly)	TEK (R906G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528939	NM_000459.5(TEK):c.2165A>G (p.Asn722Ser)	TEK (N575S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528799	NM_000459.5(TEK):c.2422A>G (p.Lys808Glu)	TEK (K660E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525240	NM_000459.5(TEK):c.2932G>T (p.Ala978Ser)	TEK (A978S +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2521195	NM_000459.5(TEK):c.2369A>G (p.Glu790Gly)	TEK (E746G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2505742	NM_000459.5(TEK):c.1413T>G (p.Phe471Leu)	TEK (F324L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499371	NM_000459.5(TEK):c.2680C>T (p.His894Tyr)	TEK (H746Y +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2474927	NM_000459.5(TEK):c.1012C>A (p.Leu338Ile)	TEK (L338I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2473115	NM_000459.5(TEK):c.2443A>G (p.Ile815Val)	TEK (I667V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472517	NM_000459.5(TEK):c.2213C>T (p.Pro738Leu)	TEK (P738L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2434117	NM_000459.5(TEK):c.1293_1297del (p.Met432fs)	TEK (M285fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2423694	NC_000009.11:g.(?_27047252)_(27573526_?)dup	C9orf72, EQTN +3 more	Duplication	not provided	GUncertain significance
Select item 2423497	NC_000009.11:g.(?_26934991)_(27220163_?)dup	IFT74, LRRC19 +2 more	Duplication	not provided	GUncertain significance
Select item 2423496	NC_000009.11:g.(?_26946875)_(27109660_?)dup	IFT74, LRRC19 +2 more	Duplication	not provided	GUncertain significance
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 2404588	NM_000459.5(TEK):c.964A>G (p.Met322Val)	TEK (M322V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2394983	NM_000459.5(TEK):c.1249C>A (p.Pro417Thr)	TEK (P374T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389239	NM_000459.5(TEK):c.2720A>G (p.His907Arg)	TEK (H864R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2382943	NM_000459.5(TEK):c.2017C>T (p.Arg673Cys)	TEK (R526C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375731	NM_000459.5(TEK):c.2145G>C (p.Glu715Asp)	TEK (E672D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369326	NM_000459.5(TEK):c.2018G>A (p.Arg673His)	TEK (R630H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2317232	NM_000459.5(TEK):c.1866G>C (p.Gln622His)	TEK (Q579H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2311438	NM_000459.5(TEK):c.1978A>G (p.Thr660Ala)	TEK (T513A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297439	NM_000459.5(TEK):c.1303A>C (p.Lys435Gln)	TEK (K288Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295603	NM_000459.5(TEK):c.1825G>A (p.Glu609Lys)	TEK (E462K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274458	NM_000459.5(TEK):c.1249C>G (p.Pro417Ala)	TEK (P270A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 2265678	NM_000459.5(TEK):c.1861G>T (p.Ala621Ser)	TEK (A474S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	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

<< First< Prev

Page of 5