"GeneDx"[submitter] AND "TEK"[gene] - ClinVar

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Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 503879	NM_000459.5(TEK):c.270_271delinsGC (p.Glu91Gln)	TEK (E91Q)	Indel (missense variant +1 more)	not provided	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 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 1295527	NM_000459.5(TEK):c.475+101T>C	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 1258472	NM_000459.5(TEK):c.901+69T>C	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3372230	NM_000459.5(TEK):c.1031-5T>G	TEK	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1288906	NM_000459.5(TEK):c.1183-232C>T	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227718	NM_000459.5(TEK):c.1327+135T>G	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288994	NM_000459.5(TEK):c.1328-278G>T	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 366425	NM_000459.5(TEK):c.1456G>A (p.Val486Ile)	TEK (V486I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1230247	NM_000459.5(TEK):c.1489+202C>T	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260150	NM_000459.5(TEK):c.1489+261T>C	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290318	NM_000459.5(TEK):c.1489+304C>T	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228880	NM_000459.5(TEK):c.1490-157G>A	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276472	NM_000459.5(TEK):c.1624+56G>A	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262397	NM_000459.5(TEK):c.1625-31T>G	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 366427	NM_000459.5(TEK):c.1680T>C (p.Asn560=)	TEK	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 366430	NM_000459.5(TEK):c.1798G>T (p.Val600Leu)	TEK (V600L +2 more)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations +1 more	GBenign
Select item 1229087	NM_000459.5(TEK):c.1909+76G>T	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233447	NM_000459.5(TEK):c.1910-156C>T	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272139	NM_000459.5(TEK):c.1910-155G>A	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250185	NM_000459.5(TEK):c.1910-92A>T	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182583	NM_000459.5(TEK):c.1910-91T>C	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 366434	NM_000459.5(TEK):c.1962A>G (p.Ser654=)	TEK	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 431835	NM_000459.5(TEK):c.2078C>T (p.Thr693Ile)	TEK (T693I +2 more)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations +2 more	GUncertain significance
Select item 366437	NM_000459.5(TEK):c.2094G>A (p.Gln698=)	TEK	Single nucleotide variant (synonymous variant)	Multiple cutaneous and mucosal venous malformations +1 more	GBenign
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 366438	NM_000459.5(TEK):c.2170G>A (p.Ala724Thr)	TEK (A724T +2 more)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations +1 more	GBenign
Select item 518397	NM_000459.5(TEK):c.2209+17A>G	TEK	Single nucleotide variant (intron variant)	Multiple cutaneous and mucosal venous malformations +2 more	GBenign
Select item 1285713	NM_000459.5(TEK):c.2210-205_2210-204dup	TEK	Duplication (intron variant)	not provided	GBenign
Select item 1277048	NM_000459.5(TEK):c.2210-204dup	TEK	Duplication (intron variant)	not provided	GBenign
Select item 1271370	NM_000459.5(TEK):c.2210-205T>A	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255078	NM_000459.5(TEK):c.2210-202dup	TEK	Duplication (intron variant)	not provided	GBenign
Select item 1241146	NM_000459.5(TEK):c.2210-204T>A	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222770	NM_000459.5(TEK):c.2210-111G>A	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229567	NM_000459.5(TEK):c.2210-107A>G	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 366439	NM_000459.5(TEK):c.2322G>A (p.Arg774=)	TEK	Single nucleotide variant (synonymous variant)	Multiple cutaneous and mucosal venous malformations +1 more	GBenign
Select item 1297942	NM_000459.5(TEK):c.2364+172T>A	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251056	NM_000459.5(TEK):c.2364+215G>T	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260077	NM_000459.5(TEK):c.2365-273A>C	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235122	NM_000459.5(TEK):c.2575+35G>T	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224741	NM_000459.5(TEK):c.2575+172A>G	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289038	NM_000459.5(TEK):c.2576-262G>T	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
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 1262069	NM_000459.5(TEK):c.2686+193G>A	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 981227	NM_000459.5(TEK):c.2743C>T (p.Arg915Cys)	TEK (R767C +4 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 452884	NM_000459.5(TEK):c.2753G>A (p.Arg918His)	TEK (R918H +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2229180	NM_000459.5(TEK):c.2833G>A (p.Ala945Thr)	TEK (A944T +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1221625	NM_000459.5(TEK):c.2877+71T>C	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257295	NM_000459.5(TEK):c.2877+166G>A	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226670	NM_000459.5(TEK):c.2878-113T>C	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
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 366447	NM_000459.5(TEK):c.2976T>C (p.Tyr992=)	TEK	Single nucleotide variant (synonymous variant)	Multiple cutaneous and mucosal venous malformations +1 more	GBenign
Select item 1264245	NM_000459.5(TEK):c.2991+17G>C	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255206	NM_000459.5(TEK):c.2991+177C>T	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248839	NM_000459.5(TEK):c.2991+301G>A	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245793	NM_000459.5(TEK):c.2992-303G>T	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295533	NM_000459.5(TEK):c.2992-289G>A	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274588	NM_000459.5(TEK):c.2992-163_2992-160del	TEK	Microsatellite (intron variant)	not provided	GBenign
Select item 1276590	NM_000459.5(TEK):c.2992-164G>A	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241214	NM_000459.5(TEK):c.3062+35dup	TEK	Duplication (intron variant)	not provided	GBenign
Select item 1237552	NM_000459.5(TEK):c.3062+54C>T	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252255	NM_000459.5(TEK):c.3062+66G>A	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252420	NM_000459.5(TEK):c.3062+75_3062+79dup	TEK	Duplication (intron variant)	not provided	GBenign
Select item 1269009	NM_000459.5(TEK):c.3062+95G>C	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274401	NM_000459.5(TEK):c.3062+191T>C	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179880	NM_000459.5(TEK):c.3062+236T>G	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281279	NM_000459.5(TEK):c.3063-60C>A	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284051	NM_000459.5(TEK):c.3063-49C>T	TEK	Single nucleotide variant (intron variant)	Multiple cutaneous and mucosal venous malformations +2 more	GBenign
Select item 1275312	NM_000459.5(TEK):c.3103+145A>T	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287629	NM_000459.5(TEK):c.3103+205C>G	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260132	NM_000459.5(TEK):c.3103+215_3103+233dup	TEK	Duplication (intron variant)	not provided	GBenign
Select item 1283378	NM_000459.5(TEK):c.3103+243G>A	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1302998	NM_000459.5(TEK):c.3110C>T (p.Thr1037Ile)	TEK (T1036I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 366450	NM_000459.5(TEK):c.3123G>A (p.Gly1041=)	TEK	Single nucleotide variant (synonymous variant)	Multiple cutaneous and mucosal venous malformations +1 more	GBenign
Select item 1285968	NM_000459.5(TEK):c.3201-182A>G	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270677	NM_000459.5(TEK):c.3201-146T>G	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
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 1260020	NM_000459.5(TEK):c.3300+200C>T	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233683	NM_000459.5(TEK):c.3300+229G>A	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254947	NM_000459.5(TEK):c.3300+261G>A	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282106	NM_000459.5(TEK):c.3301-57G>A	TEK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 366455	NM_000459.5(TEK):c.3301-15T>C	TEK	Single nucleotide variant (intron variant)	Multiple cutaneous and mucosal venous malformations +1 more	GBenign
Select item 253667	GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253633	GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253592	GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4	ACER2, ACO1 +202 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 99