ClinVar for Gene (Select 2125) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3090907	NM_001988.4(EVPL):c.794G>A (p.Arg265Gln)	EVPL (R265Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090905	NM_001988.4(EVPL):c.6019G>A (p.Gly2007Ser)	EVPL (G2029S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090904	NM_001988.4(EVPL):c.58G>A (p.Ala20Thr)	EVPL (A20T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090903	NM_001988.4(EVPL):c.5802C>A (p.His1934Gln)	EVPL (H1934Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090902	NM_001988.4(EVPL):c.5761G>A (p.Val1921Ile)	EVPL (V1943I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3090900	NM_001988.4(EVPL):c.5736G>C (p.Lys1912Asn)	EVPL (K1934N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090899	NM_001988.4(EVPL):c.5528C>T (p.Thr1843Met)	EVPL (T1843M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090898	NM_001988.4(EVPL):c.5438C>G (p.Ser1813Cys)	EVPL (S1835C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090897	NM_001988.4(EVPL):c.5269C>T (p.Arg1757Cys)	EVPL (R1757C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090896	NM_001988.4(EVPL):c.4960G>A (p.Glu1654Lys)	EVPL (E1654K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090895	NM_001988.4(EVPL):c.4658G>A (p.Arg1553Gln)	EVPL (R1553Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090894	NM_001988.4(EVPL):c.4522G>A (p.Val1508Ile)	EVPL (V1530I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090892	NM_001988.4(EVPL):c.44C>G (p.Pro15Arg)	EVPL (P15R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090891	NM_001988.4(EVPL):c.4154G>A (p.Arg1385His)	EVPL (R1407H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3090890	NM_001988.4(EVPL):c.3856C>T (p.Arg1286Cys)	EVPL (R1308C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090889	NM_001988.4(EVPL):c.3683A>G (p.Glu1228Gly)	EVPL (E1250G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090888	NM_001988.4(EVPL):c.3677G>T (p.Gly1226Val)	EVPL (G1226V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090887	NM_001988.4(EVPL):c.3634C>G (p.Arg1212Gly)	EVPL (R1234G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090886	NM_001988.4(EVPL):c.3584G>A (p.Arg1195His)	EVPL (R1195H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090885	NM_001988.4(EVPL):c.3523G>A (p.Asp1175Asn)	EVPL (D1175N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090884	NM_001988.4(EVPL):c.3213G>T (p.Lys1071Asn)	EVPL (K1093N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090883	NM_001988.4(EVPL):c.3155G>A (p.Arg1052Gln)	EVPL (R1052Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3090881	NM_001988.4(EVPL):c.2960C>T (p.Ala987Val)	EVPL (A987V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090880	NM_001988.4(EVPL):c.2840C>T (p.Thr947Ile)	EVPL (T947I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090879	NM_001988.4(EVPL):c.2710T>C (p.Ser904Pro)	EVPL (S904P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090878	NM_001988.4(EVPL):c.2555G>T (p.Ser852Ile)	EVPL (S874I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090877	NM_001988.4(EVPL):c.2189G>A (p.Arg730His)	EVPL (R730H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090876	NM_001988.4(EVPL):c.208A>G (p.Asn70Asp)	EVPL (N70D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090875	NM_001988.4(EVPL):c.2057A>C (p.Gln686Pro)	EVPL (Q686P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090873	NM_001988.4(EVPL):c.2015T>A (p.Val672Asp)	EVPL (V694D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090872	NM_001988.4(EVPL):c.2014G>A (p.Val672Ile)	EVPL (V672I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090871	NM_001988.4(EVPL):c.1858G>A (p.Val620Met)	EVPL (V642M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090870	NM_001988.4(EVPL):c.1703G>A (p.Ser568Asn)	EVPL (S590N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090869	NM_001988.4(EVPL):c.1691G>T (p.Gly564Val)	EVPL (G586V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090868	NM_001988.4(EVPL):c.1666C>T (p.Pro556Ser)	EVPL (P556S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090867	NM_001988.4(EVPL):c.1663C>T (p.Arg555Cys)	EVPL (R577C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090866	NM_001988.4(EVPL):c.164G>A (p.Arg55Gln)	EVPL (R55Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090865	NM_001988.4(EVPL):c.1210C>T (p.Pro404Ser)	EVPL (P404S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684856	GRCh37/hg19 17q25.1(chr17:73264158-74039659)x3	ACOX1, CASKIN2 +24 more	Copy number gain	not provided	GUncertain significance
Select item 2648289	NM_001988.4(EVPL):c.2952G>A (p.Lys984=)	EVPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648288	NM_001988.4(EVPL):c.3484G>A (p.Glu1162Lys)	EVPL (E1162K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2648287	NM_001988.4(EVPL):c.5376C>T (p.Ile1792=)	EVPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648286	NM_001988.4(EVPL):c.5460C>T (p.Leu1820=)	EVPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2618627	NM_001988.4(EVPL):c.419T>C (p.Met140Thr)	EVPL (M140T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612791	NM_001988.4(EVPL):c.1387G>T (p.Ala463Ser)	EVPL (A463S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609996	NM_001988.4(EVPL):c.2876T>A (p.Val959Glu)	EVPL (V981E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606657	NM_001988.4(EVPL):c.3033G>C (p.Gln1011His)	EVPL (Q1033H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606232	NM_001988.4(EVPL):c.4451A>T (p.Asp1484Val)	EVPL (D1506V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603589	NM_001988.4(EVPL):c.5263T>G (p.Cys1755Gly)	EVPL (C1777G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602508	NM_001988.4(EVPL):c.3392A>G (p.Glu1131Gly)	EVPL (E1153G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601804	NM_001988.4(EVPL):c.1931C>T (p.Ala644Val)	EVPL (A644V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598358	NM_001988.4(EVPL):c.1334C>T (p.Pro445Leu)	EVPL (P445L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596665	NM_001988.4(EVPL):c.1912G>C (p.Glu638Gln)	EVPL (E660Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595505	NM_001988.4(EVPL):c.1717G>C (p.Ala573Pro)	EVPL (A595P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594078	NM_001988.4(EVPL):c.3305A>G (p.Asp1102Gly)	EVPL (D1102G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592602	NM_001988.4(EVPL):c.2161C>G (p.Gln721Glu)	EVPL (Q721E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591058	NM_001988.4(EVPL):c.4574G>A (p.Arg1525Gln)	EVPL (R1525Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578017	GRCh37/hg19 17q25.1(chr17:72718277-74142256)	ACOX1, ARMC7 +52 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 2568258	NM_001988.4(EVPL):c.5824G>A (p.Gly1942Arg)	EVPL (G1964R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561648	NM_001988.4(EVPL):c.5969G>A (p.Arg1990Gln)	EVPL (R1990Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558754	NM_001988.4(EVPL):c.5983G>A (p.Glu1995Lys)	EVPL (E1995K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552414	NM_001988.4(EVPL):c.3052G>A (p.Glu1018Lys)	EVPL (E1018K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550534	NM_001988.4(EVPL):c.5221C>T (p.Arg1741Cys)	EVPL (R1741C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540340	NM_001988.4(EVPL):c.2069T>C (p.Leu690Pro)	EVPL (L712P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539211	NM_001988.4(EVPL):c.5482G>C (p.Ala1828Pro)	EVPL (A1850P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538660	NM_001988.4(EVPL):c.4847A>C (p.Glu1616Ala)	EVPL (E1616A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535887	NM_001988.4(EVPL):c.1387G>A (p.Ala463Thr)	EVPL (A463T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529085	NM_001988.4(EVPL):c.427C>T (p.Pro143Ser)	EVPL (P143S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525341	NM_001988.4(EVPL):c.5455G>A (p.Gly1819Arg)	EVPL (G1841R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524175	NM_001988.4(EVPL):c.4799G>C (p.Arg1600Pro)	EVPL (R1600P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523528	NM_001988.4(EVPL):c.158T>C (p.Val53Ala)	EVPL (V53A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519917	NM_001988.4(EVPL):c.5078C>T (p.Thr1693Met)	EVPL (T1715M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519499	NM_001988.4(EVPL):c.6082G>A (p.Val2028Ile)	EVPL (V2028I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518802	NM_001988.4(EVPL):c.2780G>A (p.Arg927Gln)	EVPL (R927Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517945	NM_001988.4(EVPL):c.5360G>C (p.Ser1787Thr)	EVPL (S1809T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512822	NM_001988.4(EVPL):c.4704G>C (p.Glu1568Asp)	EVPL (E1590D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511296	NM_001988.4(EVPL):c.2401G>C (p.Glu801Gln)	EVPL (E823Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510469	NM_001988.4(EVPL):c.3724C>T (p.Arg1242Trp)	EVPL (R1264W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509791	NM_001988.4(EVPL):c.5261G>A (p.Arg1754His)	EVPL (R1754H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495316	NM_001988.4(EVPL):c.3523G>C (p.Asp1175His)	EVPL (D1197H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495233	NM_001988.4(EVPL):c.1823T>G (p.Val608Gly)	EVPL (V608G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494350	NM_001988.4(EVPL):c.3611C>T (p.Pro1204Leu)	EVPL (P1204L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491438	NM_001988.4(EVPL):c.5600G>A (p.Gly1867Asp)	EVPL (G1867D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489315	NM_001988.4(EVPL):c.2660A>G (p.Lys887Arg)	EVPL (K909R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486229	NM_001988.4(EVPL):c.5003G>A (p.Arg1668Gln)	EVPL (R1690Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485922	NM_001988.4(EVPL):c.4177G>A (p.Gly1393Arg)	EVPL (G1393R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2484638	NM_001988.4(EVPL):c.4466A>T (p.Lys1489Met)	EVPL (K1489M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476825	NM_001988.4(EVPL):c.3376G>C (p.Ala1126Pro)	EVPL (A1126P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475493	NM_001988.4(EVPL):c.188G>C (p.Arg63Thr)	EVPL (R63T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471604	NM_001988.4(EVPL):c.3740C>T (p.Thr1247Met)	EVPL (T1247M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467808	NM_001988.4(EVPL):c.5785G>A (p.Glu1929Lys)	EVPL (E1951K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465062	NM_001988.4(EVPL):c.148G>A (p.Ala50Thr)	EVPL (A50T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463892	NM_001988.4(EVPL):c.4871C>T (p.Thr1624Met)	EVPL (T1624M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463831	NM_001988.4(EVPL):c.3433G>A (p.Asp1145Asn)	EVPL (D1145N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457192	NM_001988.4(EVPL):c.5533G>A (p.Val1845Met)	EVPL (V1845M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2457030	NM_001988.4(EVPL):c.5996G>A (p.Arg1999His)	EVPL (R1999H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454489	NM_001988.4(EVPL):c.6086C>A (p.Pro2029Gln)	EVPL (P2029Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407080	NM_001988.4(EVPL):c.5438C>T (p.Ser1813Phe)	EVPL (S1813F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403131	NM_001988.4(EVPL):c.6064C>T (p.Arg2022Cys)	EVPL (R2044C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402555	NM_001988.4(EVPL):c.3415G>A (p.Val1139Met)	EVPL (V1139M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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