ClinVar for Gene (Select 7075) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3348409	NM_005424.4(TIE1):c.3039delG	TIE1	Deletion	TIE1-related disorder	GUncertain significance
Select item 3345478	NM_005424.5(TIE1):c.2569A>G (p.Met857Val)	TIE1 (M812V +1 more)	Single nucleotide variant (missense variant)	TIE1-related disorder	GUncertain significance
Select item 3326118	NM_005424.5(TIE1):c.1510G>A (p.Val504Met)	TIE1 (V459M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326117	NM_005424.5(TIE1):c.463G>C (p.Asp155His)	TIE1 (D110H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326116	NM_005424.5(TIE1):c.1102C>A (p.Pro368Thr)	TIE1 (P323T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326115	NM_005424.5(TIE1):c.76A>G (p.Thr26Ala)	TIE1 (T26A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326114	NM_005424.5(TIE1):c.394G>T (p.Val132Phe)	TIE1 (V132F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326113	NM_005424.5(TIE1):c.2903A>C (p.Gln968Pro)	TIE1 (Q923P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326112	NM_005424.5(TIE1):c.322G>A (p.Gly108Ser)	TIE1 (G108S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326110	NM_005424.5(TIE1):c.1844A>G (p.His615Arg)	TIE1 (H615R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326109	NM_005424.5(TIE1):c.922C>T (p.Pro308Ser)	TIE1 (P263S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326108	NM_005424.5(TIE1):c.1552C>T (p.Arg518Cys)	TIE1 (R518C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326107	NM_005424.5(TIE1):c.1688G>A (p.Arg563Gln)	TIE1 (R518Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326106	NM_005424.5(TIE1):c.2236C>T (p.Pro746Ser)	TIE1 (P701S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326105	NM_005424.5(TIE1):c.2729G>A (p.Arg910Gln)	TIE1 (R865Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326104	NM_005424.5(TIE1):c.1918C>T (p.Pro640Ser)	TIE1 (P640S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247992	NC_000001.10:g.(?_42922237)_(43916151_?)del	C1orf210, C1orf50 +20 more	Deletion	not provided	GPathogenic
Select item 3236564	NM_005424.5(TIE1):c.3346-1G>C	TIE1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3177427	NM_005424.5(TIE1):c.727G>A (p.Glu243Lys)	TIE1 (E198K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177426	NM_005424.5(TIE1):c.566C>T (p.Ser189Leu)	TIE1 (S144L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177425	NM_005424.5(TIE1):c.529C>T (p.Arg177Trp)	TIE1 (R132W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177424	NM_005424.5(TIE1):c.434C>G (p.Ser145Cys)	TIE1 (S100C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177423	NM_005424.5(TIE1):c.3385G>C (p.Ala1129Pro)	TIE1 (A1129P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177422	NM_005424.5(TIE1):c.3277C>T (p.Arg1093Cys)	LOC126805720, TIE1 (R1093C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177421	NM_005424.5(TIE1):c.2798G>A (p.Arg933Gln)	TIE1 (R933Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177420	NM_005424.5(TIE1):c.274G>A (p.Gly92Ser)	TIE1 (G92S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177419	NM_005424.5(TIE1):c.2527G>A (p.Asp843Asn)	TIE1 (D843N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177418	NM_005424.5(TIE1):c.2411G>A (p.Gly804Asp)	TIE1 (G759D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177417	NM_005424.5(TIE1):c.223G>A (p.Gly75Arg)	TIE1 (G30R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177416	NM_005424.5(TIE1):c.2116C>T (p.Arg706Cys)	TIE1 (R661C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177415	NM_005424.5(TIE1):c.1988C>T (p.Thr663Ile)	TIE1 (T618I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177414	NM_005424.5(TIE1):c.1954G>A (p.Ala652Thr)	TIE1 (A607T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177413	NM_005424.5(TIE1):c.1909G>A (p.Val637Met)	TIE1 (V637M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177412	NM_005424.5(TIE1):c.1553G>A (p.Arg518His)	TIE1 (R518H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177411	NM_005424.5(TIE1):c.1445T>C (p.Leu482Pro)	TIE1 (L437P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177410	NM_005424.5(TIE1):c.1400C>T (p.Pro467Leu)	TIE1 (P467L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177409	NM_005424.5(TIE1):c.1342G>A (p.Val448Met)	TIE1 (V403M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177408	NM_005424.5(TIE1):c.1327G>A (p.Val443Met)	TIE1 (V398M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177407	NM_005424.5(TIE1):c.1321G>A (p.Val441Ile)	TIE1 (V396I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177406	NM_005424.5(TIE1):c.113G>T (p.Arg38Leu)	TIE1 (R38L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177405	NM_005424.5(TIE1):c.1097C>T (p.Thr366Met)	TIE1 (T321M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062343	GRCh38/hg38 1p34.2(chr1:42278946-43598390)	C1orf210, C1orf50 +91 more	Copy number loss	Epilepsy syndrome	GPathogenic
Select item 3040301	NM_005424.5(TIE1):c.2497G>A (p.Val833Met)	TIE1 (V788M +1 more)	Single nucleotide variant (missense variant)	TIE1-related disorder	GLikely benign
Select item 2685798	GRCh37/hg19 1p34.2(chr1:43431433-43787962)x3	C1orf210, CFAP144 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2638745	NM_005424.5(TIE1):c.2142C>T (p.Tyr714=)	TIE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638744	NM_005424.5(TIE1):c.2031C>T (p.Tyr677=)	TIE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638743	NM_005424.5(TIE1):c.663G>T (p.Gly221=)	TIE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619068	NM_005424.5(TIE1):c.530G>A (p.Arg177Gln)	TIE1 (R132Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615339	NM_005424.5(TIE1):c.625C>T (p.Arg209Trp)	TIE1 (R209W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609270	NM_005424.5(TIE1):c.1540G>C (p.Gly514Arg)	TIE1 (G469R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608757	NM_005424.5(TIE1):c.1595G>T (p.Trp532Leu)	TIE1 (W487L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608381	NM_005424.5(TIE1):c.2577G>C (p.Lys859Asn)	TIE1 (K859N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601112	NM_005424.5(TIE1):c.1234G>A (p.Glu412Lys)	TIE1 (E412K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598263	NM_005424.5(TIE1):c.2383C>T (p.Arg795Cys)	TIE1 (R795C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570722	NM_005424.5(TIE1):c.3137T>C (p.Ile1046Thr)	LOC126805720, TIE1 (I1001T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2552128	NM_005424.5(TIE1):c.2828G>A (p.Arg943Gln)	TIE1 (R943Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552045	NM_005424.5(TIE1):c.257A>T (p.His86Leu)	TIE1 (H41L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547982	NM_005424.5(TIE1):c.2251C>T (p.Arg751Trp)	TIE1 (R751W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540620	NM_005424.5(TIE1):c.278T>G (p.Phe93Cys)	TIE1 (F48C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527173	NM_005424.5(TIE1):c.1105C>T (p.Arg369Trp)	TIE1 (R324W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519408	NM_005424.5(TIE1):c.208G>A (p.Val70Met)	TIE1 (V70M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519103	NM_005424.5(TIE1):c.2000C>T (p.Pro667Leu)	TIE1 (P622L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513636	NM_005424.5(TIE1):c.1309C>T (p.Arg437Trp)	TIE1 (R392W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512122	NM_005424.5(TIE1):c.3260G>A (p.Arg1087His)	LOC126805720, TIE1 (R1042H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486662	NM_005424.5(TIE1):c.215C>A (p.Thr72Asn)	TIE1 (T72N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478304	NM_005424.5(TIE1):c.637C>T (p.Arg213Trp)	TIE1 (R168W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478102	NM_005424.5(TIE1):c.340A>G (p.Thr114Ala)	TIE1 (T114A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473014	NM_005424.5(TIE1):c.638G>A (p.Arg213Gln)	TIE1 (R213Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472965	NM_005424.5(TIE1):c.19C>G (p.Pro7Ala)	TIE1 (P7A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2468386	NM_005424.5(TIE1):c.2110A>G (p.Ile704Val)	TIE1 (I704V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463766	NM_005424.5(TIE1):c.760C>T (p.Arg254Cys)	TIE1 (R254C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456339	NM_005424.5(TIE1):c.1732G>A (p.Asp578Asn)	TIE1 (D533N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2397205	NM_005424.5(TIE1):c.1943G>A (p.Arg648Gln)	TIE1 (R603Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395033	NM_005424.5(TIE1):c.2128G>A (p.Ala710Thr)	TIE1 (A665T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386062	NM_005424.5(TIE1):c.524A>T (p.Asp175Val)	TIE1 (D175V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374476	NM_005424.5(TIE1):c.350T>C (p.Ile117Thr)	TIE1 (I72T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368829	NM_005424.5(TIE1):c.836G>A (p.Arg279Gln)	TIE1 (R279Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364059	NM_005424.5(TIE1):c.2561T>G (p.Ile854Ser)	TIE1 (I854S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357041	NM_005424.5(TIE1):c.835C>T (p.Arg279Trp)	TIE1 (R234W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341997	NM_005424.5(TIE1):c.655C>T (p.Arg219Cys)	TIE1 (R174C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340113	NM_005424.5(TIE1):c.1183C>T (p.Leu395Phe)	TIE1 (L395F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323852	NM_005424.5(TIE1):c.11G>A (p.Arg4Gln)	TIE1 (R4Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2308000	NM_005424.5(TIE1):c.1672G>A (p.Gly558Ser)	TIE1 (G558S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304308	NM_005424.5(TIE1):c.2057G>T (p.Gly686Val)	TIE1 (G641V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292929	NM_005424.5(TIE1):c.1261A>T (p.Ser421Cys)	TIE1 (S376C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287641	NM_005424.5(TIE1):c.2654C>T (p.Ala885Val)	TIE1 (A840V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285523	NM_005424.5(TIE1):c.2384G>T (p.Arg795Leu)	TIE1 (R795L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279814	NM_005424.5(TIE1):c.502C>G (p.Leu168Val)	TIE1 (L168V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278899	NM_005424.5(TIE1):c.3035T>C (p.Met1012Thr)	TIE1 (M1012T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276215	NM_005424.5(TIE1):c.1814C>T (p.Ala605Val)	TIE1 (A560V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275069	NM_005424.5(TIE1):c.947G>A (p.Arg316Gln)	TIE1 (R271Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267662	NM_005424.5(TIE1):c.2257G>A (p.Ala753Thr)	TIE1 (A753T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263760	NM_005424.5(TIE1):c.616G>A (p.Ala206Thr)	TIE1 (A206T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262653	NM_005424.5(TIE1):c.2155C>T (p.Arg719Trp)	TIE1 (R674W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258779	NM_005424.5(TIE1):c.1297G>C (p.Gly433Arg)	TIE1 (G433R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247638	NM_005424.5(TIE1):c.2459G>A (p.Arg820Gln)	TIE1 (R775Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232834	NM_005424.5(TIE1):c.1310G>A (p.Arg437Gln)	TIE1 (R392Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232604	NM_005424.5(TIE1):c.1819C>G (p.Leu607Val)	TIE1 (L607V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227869	NM_005424.5(TIE1):c.2004G>C (p.Glu668Asp)	TIE1 (E668D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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