TECPR1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 2657695	NM_015395.3(TECPR1):c.3458C>T (p.Pro1153Leu)	TECPR1 (P1153L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2590269	NM_015395.3(TECPR1):c.3451C>G (p.Gln1151Glu)	TECPR1 (Q1151E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536662	NM_015395.3(TECPR1):c.3388G>A (p.Gly1130Ser)	TECPR1 (G1130S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175618	NM_015395.3(TECPR1):c.3353C>T (p.Pro1118Leu)	TECPR1 (P1118L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336661	NM_015395.3(TECPR1):c.3314G>A (p.Gly1105Glu)	TECPR1 (G1105E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657696	NM_015395.3(TECPR1):c.3219C>T (p.His1073=)	TECPR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2280017	NM_015395.3(TECPR1):c.3169T>G (p.Tyr1057Asp)	TECPR1 (Y1057D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366086	NM_015395.3(TECPR1):c.3121G>A (p.Ala1041Thr)	TECPR1 (A1041T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252592	NM_015395.3(TECPR1):c.3104G>A (p.Arg1035Lys)	TECPR1 (R1035K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611706	NM_015395.3(TECPR1):c.3095C>T (p.Pro1032Leu)	TECPR1 (P1032L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175615	NM_015395.3(TECPR1):c.2958C>A (p.Asp986Glu)	TECPR1 (D986E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175614	NM_015395.3(TECPR1):c.2947G>A (p.Val983Ile)	TECPR1 (V983I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175613	NM_015395.3(TECPR1):c.2926G>A (p.Ala976Thr)	TECPR1 (A976T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768180	NM_015395.3(TECPR1):c.2913G>A (p.Ser971=)	TECPR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3175612	NM_015395.3(TECPR1):c.2900G>A (p.Arg967His)	TECPR1 (R967H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244995	NM_015395.3(TECPR1):c.2900G>T (p.Arg967Leu)	TECPR1 (R967L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 982232	NM_015395.3(TECPR1):c.2899C>T (p.Arg967Cys)	TECPR1 (R967C)	Single nucleotide variant (missense variant)	Moyamoya angiopathy	GLikely pathogenic
Select item 3175610	NM_015395.3(TECPR1):c.2839G>A (p.Glu947Lys)	TECPR1 (E947K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175609	NM_015395.3(TECPR1):c.2797G>A (p.Ala933Thr)	TECPR1 (A933T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397934	NM_015395.3(TECPR1):c.2642C>T (p.Pro881Leu)	TECPR1 (P881L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302546	NM_015395.3(TECPR1):c.2635A>T (p.Ser879Cys)	TECPR1 (S879C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 916572	NM_015395.3(TECPR1):c.2617G>A (p.Asp873Asn)	TECPR1 (D873N)	Single nucleotide variant (missense variant)	Tracheoesophageal fistula	GLikely pathogenic
Select item 3175608	NM_015395.3(TECPR1):c.2585A>G (p.Lys862Arg)	TECPR1 (K862R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225937	NM_015395.3(TECPR1):c.2582C>T (p.Thr861Met)	TECPR1 (T861M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293676	NM_015395.3(TECPR1):c.2494G>A (p.Val832Ile)	TECPR1 (V832I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316371	NM_015395.3(TECPR1):c.2483G>C (p.Arg828Pro)	TECPR1 (R828P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175605	NM_015395.3(TECPR1):c.2350A>G (p.Ile784Val)	TECPR1 (I784V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768181	NM_015395.3(TECPR1):c.2337C>T (p.Gly779=)	TECPR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2588545	NM_015395.3(TECPR1):c.2312G>A (p.Arg771Gln)	TECPR1 (R771Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601080	NM_015395.3(TECPR1):c.2306A>G (p.His769Arg)	TECPR1 (H769R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776242	NM_015395.3(TECPR1):c.2256C>T (p.His752=)	TECPR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3175604	NM_015395.3(TECPR1):c.2242G>C (p.Asp748His)	TECPR1 (D748H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368953	NM_015395.3(TECPR1):c.2177C>T (p.Pro726Leu)	TECPR1 (P726L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175603	NM_015395.3(TECPR1):c.2174G>A (p.Arg725His)	TECPR1 (R725H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273757	NM_015395.3(TECPR1):c.2159G>A (p.Arg720Gln)	TECPR1 (R720Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405106	NM_015395.3(TECPR1):c.2128G>A (p.Ala710Thr)	TECPR1 (A710T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543556	NM_015395.3(TECPR1):c.2083G>T (p.Val695Leu)	TECPR1 (V695L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570077	NM_015395.3(TECPR1):c.2069G>A (p.Arg690Gln)	TECPR1 (R690Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595281	NM_015395.3(TECPR1):c.2050T>C (p.Tyr684His)	TECPR1 (Y684H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791570	NM_015395.3(TECPR1):c.1962C>T (p.His654=)	LOC129389829, TECPR1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2508194	NM_015395.3(TECPR1):c.1928G>A (p.Arg643Gln)	LOC129389829, TECPR1 (R643Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175601	NM_015395.3(TECPR1):c.1924G>A (p.Val642Ile)	LOC129389829, TECPR1 (V642I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175600	NM_015395.3(TECPR1):c.1918G>A (p.Asp640Asn)	LOC129389829, TECPR1 (D640N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370732	NM_015395.3(TECPR1):c.1910C>T (p.Thr637Met)	LOC129389829, TECPR1 (T637M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558034	NM_015395.3(TECPR1):c.1851G>C (p.Trp617Cys)	LOC129389829, TECPR1 (W617C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465275	NM_015395.3(TECPR1):c.1774C>T (p.Arg592Trp)	TECPR1 (R592W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175599	NM_015395.3(TECPR1):c.1754A>T (p.Gln585Leu)	TECPR1 (Q585L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539332	NM_015395.3(TECPR1):c.1748T>G (p.Phe583Cys)	TECPR1 (F583C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474839	NM_015395.3(TECPR1):c.1703T>C (p.Leu568Pro)	TECPR1 (L568P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570277	NM_015395.3(TECPR1):c.1667A>G (p.Gln556Arg)	TECPR1 (Q556R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471957	NM_015395.3(TECPR1):c.1595C>T (p.Pro532Leu)	TECPR1 (P532L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175598	NM_015395.3(TECPR1):c.1577A>T (p.Tyr526Phe)	TECPR1 (Y526F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175597	NM_015395.3(TECPR1):c.1574C>T (p.Pro525Leu)	TECPR1 (P525L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366766	NM_015395.3(TECPR1):c.1538C>T (p.Ser513Phe)	TECPR1 (S513F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402247	NM_015395.3(TECPR1):c.1495C>T (p.Pro499Ser)	TECPR1 (P499S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369464	NM_015395.3(TECPR1):c.1490A>G (p.Lys497Arg)	TECPR1 (K497R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3175595	NM_015395.3(TECPR1):c.1456C>T (p.Pro486Ser)	TECPR1 (P486S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175594	NM_015395.3(TECPR1):c.1433C>T (p.Pro478Leu)	TECPR1 (P478L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404506	NM_015395.3(TECPR1):c.1421C>T (p.Thr474Met)	TECPR1 (T474M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454779	NM_015395.3(TECPR1):c.1393G>A (p.Glu465Lys)	TECPR1 (E465K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525666	NM_015395.3(TECPR1):c.1388C>T (p.Pro463Leu)	TECPR1 (P463L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175593	NM_015395.3(TECPR1):c.1330T>A (p.Ser444Thr)	TECPR1 (S444T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205327	NM_015395.3(TECPR1):c.1321A>T (p.Thr441Ser)	TECPR1 (T441S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175591	NM_015395.3(TECPR1):c.1306G>A (p.Asp436Asn)	TECPR1 (D436N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280096	NM_015395.3(TECPR1):c.1297C>A (p.Pro433Thr)	TECPR1 (P433T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590268	NM_015395.3(TECPR1):c.1286T>C (p.Leu429Pro)	TECPR1 (L429P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520408	NM_015395.3(TECPR1):c.1263G>C (p.Glu421Asp)	TECPR1 (E421D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768182	NM_015395.3(TECPR1):c.1253C>T (p.Ser418Leu)	TECPR1 (S418L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2255723	NM_015395.3(TECPR1):c.1237G>A (p.Asp413Asn)	TECPR1 (D413N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507490	NM_015395.3(TECPR1):c.1222G>A (p.Glu408Lys)	TECPR1 (E408K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657697	NM_015395.3(TECPR1):c.1221C>T (p.Gly407=)	TECPR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2339972	NM_015395.3(TECPR1):c.1220G>A (p.Gly407Asp)	TECPR1 (G407D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175590	NM_015395.3(TECPR1):c.1133C>A (p.Ala378Asp)	TECPR1 (A378D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175589	NM_015395.3(TECPR1):c.1096G>A (p.Glu366Lys)	TECPR1 (E366K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175587	NM_015395.3(TECPR1):c.1066G>A (p.Val356Met)	TECPR1 (V356M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175623	NM_015395.3(TECPR1):c.983G>C (p.Trp328Ser)	TECPR1 (W328S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358000	NM_015395.3(TECPR1):c.977C>T (p.Thr326Ile)	TECPR1 (T326I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599771	NM_015395.3(TECPR1):c.944G>A (p.Arg315Gln)	TECPR1 (R315Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244408	NM_015395.3(TECPR1):c.748T>C (p.Cys250Arg)	TECPR1 (C250R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175622	NM_015395.3(TECPR1):c.612G>T (p.Glu204Asp)	TECPR1 (E204D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774656	NM_015395.3(TECPR1):c.606G>A (p.Thr202=)	TECPR1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3175621	NM_015395.3(TECPR1):c.543G>T (p.Lys181Asn)	TECPR1 (K181N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175620	NM_015395.3(TECPR1):c.515G>A (p.Arg172Gln)	TECPR1 (R172Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175619	NM_015395.3(TECPR1):c.514C>T (p.Arg172Trp)	TECPR1 (R172W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269140	NM_015395.3(TECPR1):c.425T>A (p.Ile142Asn)	TECPR1 (I142N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379882	NM_015395.3(TECPR1):c.393A>T (p.Glu131Asp)	TECPR1 (E131D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226386	NM_015395.3(TECPR1):c.375T>G (p.Asp125Glu)	TECPR1 (D125E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486064	NM_015395.3(TECPR1):c.329C>T (p.Ala110Val)	TECPR1 (A110V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175617	NM_015395.3(TECPR1):c.325G>C (p.Val109Leu)	TECPR1 (V109L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512592	NM_015395.3(TECPR1):c.311G>A (p.Arg104Gln)	TECPR1 (R104Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326985	NM_015395.3(TECPR1):c.310C>T (p.Arg104Trp)	TECPR1 (R104W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318262	NM_015395.3(TECPR1):c.270T>G (p.Ser90Arg)	TECPR1 (S90R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175607	NM_015395.3(TECPR1):c.247T>C (p.Phe83Leu)	TECPR1 (F83L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566103	NM_015395.3(TECPR1):c.244G>A (p.Gly82Ser)	TECPR1 (G82S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382409	NM_015395.3(TECPR1):c.226C>T (p.Arg76Cys)	TECPR1 (R76C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353410	NM_015395.3(TECPR1):c.206A>T (p.Glu69Val)	TECPR1 (E69V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278787	NM_015395.3(TECPR1):c.176G>A (p.Cys59Tyr)	TECPR1 (C59Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230490	NM_015395.3(TECPR1):c.176G>T (p.Cys59Phe)	TECPR1 (C59F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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