ClinVar for Gene (Select 7010) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	ABCA1, ABCA2 +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	ACER2, ACO1 +188 more	Copy number gain	not provided	GPathogenic
Select item 2664277	NM_000459.5(TEK):c.3339T>A (p.Tyr1113Ter)	TEK (Y1069* +4 more)	Single nucleotide variant (nonsense)	Multiple cutaneous and mucosal venous malformations	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	IFT74, TEK +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
Select item 2256359	NM_000459.5(TEK):c.3112C>G (p.Pro1038Ala)	TEK (P890A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256306	NM_000459.5(TEK):c.3253T>G (p.Phe1085Val)	TEK (F1084V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2229180	NM_000459.5(TEK):c.2833G>A (p.Ala945Thr)	TEK (A944T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 2128242	NM_000459.5(TEK):c.3331T>G (p.Phe1111Val)	TEK (F1068V +4 more)	Single nucleotide variant (missense variant)	not provided	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 2068190	NM_000459.5(TEK):c.3114C>G (p.Pro1038=)	TEK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2060952	NM_000459.5(TEK):c.2576-8C>T	TEK	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2054901	NM_000459.5(TEK):c.953A>G (p.Asn318Ser)	TEK (N318S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2021310	NM_000459.5(TEK):c.3033T>C (p.Asn1011=)	TEK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1988143	NM_000459.5(TEK):c.2362G>A (p.Val788Met)	TEK (V788M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1956797	NM_000459.5(TEK):c.1840C>T (p.Arg614Ter)	TEK (R571* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 1722353	NM_000459.5(TEK):c.1217T>G (p.Val406Gly)	TEK (V259G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1707628	GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	FOXD4, PLGRKT +199 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1704647	GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3	ACER2, ACO1 +169 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ABCA1, ABHD17B +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1703576	GRCh37/hg19 9p24.3-q13(chr9:203861-68342786)	ACER2, ACO1 +204 more	Copy number gain	Bradycardia	GPathogenic

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