EEF2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	ABCA7, ABHD17A +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic
Select item 60070	GRCh38/hg38 19p13.3(chr19:2926238-4051635)x1	APBA3, ATCAY +121 more	Copy number loss	See cases	GPathogenic
Select item 148645	GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3	ANKRD24, APBA3 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 145080	GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1	LOC121852974, LOC125371451 +193 more	Copy number loss	See cases	GPathogenic
Select item 146498	GRCh38/hg38 19p13.3(chr19:3437996-4039217)x1	APBA3, ATCAY +71 more	Copy number loss	See cases	GPathogenic
Select item 60071	GRCh38/hg38 19p13.3(chr19:3554635-4690965)x1	ZFR2, ANKRD24 +142 more	Copy number loss	See cases	GPathogenic
Select item 155547	GRCh38/hg38 19p13.3(chr19:3788727-5147354)x1	ANKRD24, ARRDC5 +150 more	Copy number loss	See cases	GLikely pathogenic
Select item 144751	GRCh38/hg38 19p13.3(chr19:3947934-5196676)x3	ANKRD24, ARRDC5 +145 more	Copy number gain	See cases	GUncertain significance
Select item 1245296	NM_001961.4(EEF2):c.*299C>T	EEF2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1292369	NM_001961.4(EEF2):c.*231A>C	EEF2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1280735	NM_001961.4(EEF2):c.*111C>T	EEF2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 994601	NM_001961.4(EEF2):c.*3G>A	EEF2	Single nucleotide variant (3 prime UTR variant)	EEF2-related condition +2 more	GBenign
Select item 447301	NM_001961.4(EEF2):c.2530C>T (p.Leu844=)	EEF2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1723525	NM_001961.4(EEF2):c.2521C>T (p.Arg841Cys)	EEF2 (R841C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1343553	NM_001961.4(EEF2):c.2508G>A (p.Ala836=)	EEF2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2684182	NM_001961.4(EEF2):c.2507C>T (p.Ala836Val)	EEF2 (A836V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 712228	NM_001961.4(EEF2):c.2496C>T (p.Ser832=)	EEF2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2446641	NM_001961.4(EEF2):c.2475C>A (p.Phe825Leu)	EEF2 (F825L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 447300	NM_001961.4(EEF2):c.2463C>T (p.Pro821=)	EEF2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1256090	NM_001961.4(EEF2):c.2460G>T (p.Leu820=)	EEF2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 715638	NM_001961.4(EEF2):c.2460G>C (p.Leu820=)	EEF2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1327226	NM_001961.4(EEF2):c.2449T>G (p.Trp817Gly)	EEF2 (W817G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575667	NM_001961.4(EEF2):c.2441T>G (p.Phe814Cys)	EEF2 (F814C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1802116	NM_001961.4(EEF2):c.2432A>G (p.Gln811Arg)	EEF2 (Q811R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256089	NM_001961.4(EEF2):c.2430C>T (p.Pro810=)	EEF2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 791348	NM_001961.4(EEF2):c.2424G>A (p.Ala808=)	EEF2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1695651	NM_001961.4(EEF2):c.2423C>T (p.Ala808Val)	EEF2 (A808V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 447299	NM_001961.4(EEF2):c.2415C>T (p.Gly805=)	EEF2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2888049	NM_001961.4(EEF2):c.2384-3C>T	EEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006571	NM_001961.4(EEF2):c.2384-9C>T	EEF2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2979294	NM_001961.4(EEF2):c.2384-13C>T	EEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2047059	NM_001961.4(EEF2):c.2384-15C>G	EEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1987428	NM_001961.4(EEF2):c.2384-15C>T	EEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293357	NM_001961.4(EEF2):c.2384-118G>A	EEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1683836	NM_001961.4(EEF2):c.2384-163A>G	EEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1675231	NM_001961.4(EEF2):c.2384-197A>G	EEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021256	NM_001961.4(EEF2):c.2383+14C>T	EEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 804781	NM_001961.4(EEF2):c.2383+8C>T	EEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1986468	NM_001961.4(EEF2):c.2383+7G>T	EEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 773077	NM_001961.4(EEF2):c.2379C>T (p.Ser793=)	EEF2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2965216	NM_001961.4(EEF2):c.2373C>T (p.Asn791=)	EEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2179111	NM_001961.4(EEF2):c.2367C>T (p.Pro789=)	EEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2330662	NM_001961.4(EEF2):c.2342T>A (p.Met781Lys)	EEF2 (M781K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 585830	NM_001961.4(EEF2):c.2331C>T (p.Ala777=)	EEF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1696864	NM_001961.4(EEF2):c.2314G>A (p.Glu772Lys)	EEF2 (E772K)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 26	GLikely pathogenic
Select item 2887540	NM_001961.4(EEF2):c.2313C>T (p.Phe771=)	EEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 994608	NM_001961.4(EEF2):c.2307C>T (p.His769=)	EEF2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2167328	NM_001961.4(EEF2):c.2285T>C (p.Val762Ala)	EEF2 (V762A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2046887	NM_001961.4(EEF2):c.2280C>T (p.Tyr760=)	EEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2502556	NM_001961.4(EEF2):c.2279A>G (p.Tyr760Cys)	EEF2 (Y760C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2703798	NM_001961.4(EEF2):c.2251-5G>C	EEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977916	NM_001961.4(EEF2):c.2251-7C>T	EEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1989039	NM_001961.4(EEF2):c.2251-7C>G	EEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1989320	NM_001961.4(EEF2):c.2251-14T>C	EEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1988171	NM_001961.4(EEF2):c.2251-19T>A	EEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1987576	NM_001961.4(EEF2):c.2250+13C>T	EEF2, LOC130063169	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 804780	NM_001961.4(EEF2):c.2250+10A>G	EEF2, LOC130063169	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2662094	NM_001961.4(EEF2):c.2245A>G (p.Ile749Val)	EEF2, LOC130063169 (I749V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 585829	NM_001961.4(EEF2):c.2241G>A (p.Val747=)	LOC130063169, EEF2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2267477	NM_001961.4(EEF2):c.2239G>A (p.Val747Met)	EEF2, LOC130063169 (V747M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 785601	NM_001961.4(EEF2):c.2205C>T (p.Thr735=)	EEF2, LOC130063169	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 729619	NM_001961.4(EEF2):c.2205C>G (p.Thr735=)	EEF2, LOC130063169	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2662577	NM_001961.4(EEF2):c.2191G>A (p.Ala731Thr)	EEF2, LOC130063169 (A731T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 128959	NM_001961.4(EEF2):c.2190T>C (p.Tyr730=)	EEF2, LOC130063169	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 26 +1 more	GBenign
Select item 2649020	NM_001961.4(EEF2):c.2185C>T (p.Leu729Phe)	EEF2, LOC130063169 (L729F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1490082	NM_001961.4(EEF2):c.2176C>T (p.Arg726Trp)	EEF2, LOC130063169 (R726W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 585828	NM_001961.4(EEF2):c.2175A>G (p.Ala725=)	EEF2, LOC130063169	Single nucleotide variant (synonymous variant)	EEF2-related condition +1 more	GBenign
Select item 447298	NM_001961.4(EEF2):c.2148C>T (p.Arg716=)	EEF2, LOC130063169	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 1931833	NM_001961.4(EEF2):c.2146C>T (p.Arg716Cys)	EEF2, LOC130063169 (R716C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 994607	NM_001961.4(EEF2):c.2136C>T (p.Asp712=)	EEF2, LOC130063169	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 585827	NM_001961.4(EEF2):c.2133C>T (p.Ala711=)	EEF2, LOC130063169	Single nucleotide variant (synonymous variant)	EEF2-related condition +1 more	GBenign/Likely benign
Select item 994606	NM_001961.4(EEF2):c.2130C>T (p.His710=)	EEF2, LOC130063169	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2428387	NM_001961.4(EEF2):c.2118C>T (p.Asp706=)	EEF2, LOC130063169	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 585826	NM_001961.4(EEF2):c.2115C>T (p.His705=)	EEF2, LOC130063169	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2026961	NM_001961.4(EEF2):c.2113C>T (p.His705Tyr)	EEF2, LOC130063169 (H705Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2886382	NM_001961.4(EEF2):c.2110G>A (p.Val704Ile)	EEF2, LOC130063169 (V704I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 447297	NM_001961.4(EEF2):c.2109C>T (p.Asp703=)	EEF2, LOC130063169	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2200564	NM_001961.4(EEF2):c.2103C>T (p.Arg701=)	EEF2, LOC130063169	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2247781	NM_001961.4(EEF2):c.2095G>A (p.Gly699Ser)	EEF2, LOC130063169 (G699S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 808421	NM_001961.4(EEF2):c.2090T>C (p.Met697Thr)	EEF2, LOC130063169 (M697T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964414	NM_001961.4(EEF2):c.2068-5C>A	EEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968492	NM_001961.4(EEF2):c.2068-15C>T	EEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1328763	NM_001961.4(EEF2):c.2067+55C>T	EEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 771511	NM_001961.4(EEF2):c.2067+10G>A	EEF2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2073915	NM_001961.4(EEF2):c.2067+9C>T	EEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1959967	NM_001961.4(EEF2):c.2059A>T (p.Thr687Ser)	EEF2 (T687S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958993	NM_001961.4(EEF2):c.2025C>A (p.Ile675=)	EEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971631	NM_001961.4(EEF2):c.2018A>G (p.Asn673Ser)	EEF2 (N673S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807544	NM_001961.4(EEF2):c.1992C>A (p.Asp664Glu)	EEF2 (D664E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256088	NM_001961.4(EEF2):c.1989C>T (p.Thr663=)	EEF2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 441103	NM_001961.4(EEF2):c.1979A>G (p.Asn660Ser)	EEF2 (N660S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965288	NM_001961.4(EEF2):c.1974C>T (p.Gly658=)	EEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3038979	NM_001961.4(EEF2):c.1971C>T (p.Thr657=)	EEF2	Single nucleotide variant (synonymous variant)	EEF2-related condition	GLikely benign
Select item 2418598	NM_001961.4(EEF2):c.1962C>T (p.Pro654=)	EEF2	Single nucleotide variant (synonymous variant)	EEF2-related condition +1 more	GLikely benign
Select item 447296	NM_001961.4(EEF2):c.1931C>T (p.Ala644Val)	EEF2 (A644V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2052846	NM_001961.4(EEF2):c.1926C>T (p.Asp642=)	EEF2	Single nucleotide variant (synonymous variant)	not provided	GBenign

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