ClinVar for Gene (Select 6785) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3088476	NM_022726.4(ELOVL4):c.863C>A (p.Ala288Glu)	ELOVL4 (A288E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3009543	NM_022726.4(ELOVL4):c.163C>T (p.Leu55Phe)	ELOVL4 (L55F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003795	NM_022726.4(ELOVL4):c.542-15G>C	ELOVL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995781	NM_022726.4(ELOVL4):c.1A>G (p.Met1Val)	ELOVL4 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2993927	NM_022726.4(ELOVL4):c.405A>G (p.Lys135=)	ELOVL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989773	NM_022726.4(ELOVL4):c.492G>T (p.Thr164=)	ELOVL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988959	NM_022726.4(ELOVL4):c.942T>G (p.Asp314Glu)	ELOVL4 (D314E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985194	NM_022726.4(ELOVL4):c.30T>C (p.Ser10=)	ELOVL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983659	NM_022726.4(ELOVL4):c.289-13A>G	ELOVL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979332	NM_022726.4(ELOVL4):c.204G>A (p.Lys68=)	ELOVL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900754	NM_022726.4(ELOVL4):c.537A>G (p.Gly179=)	ELOVL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2862697	NM_022726.4(ELOVL4):c.100G>A (p.Asp34Asn)	ELOVL4 (D34N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858810	NM_022726.4(ELOVL4):c.651C>A (p.Tyr217Ter)	ELOVL4 (Y217*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2849941	NM_022726.4(ELOVL4):c.43G>A (p.Val15Met)	ELOVL4 (V15M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2849826	NM_022726.4(ELOVL4):c.289-17T>A	ELOVL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2816561	NM_022726.4(ELOVL4):c.810C>T (p.Tyr270=)	ELOVL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2812707	NM_022726.4(ELOVL4):c.670-24_690delinsACTATTTAATCTGTTTAGTTGTTTACTATTCAGACA	ELOVL4	Indel (splice acceptor variant)	not provided	GUncertain significance
Select item 2811458	NM_022726.4(ELOVL4):c.687C>A (p.Thr229=)	ELOVL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2810542	NM_022726.4(ELOVL4):c.932C>G (p.Ala311Gly)	ELOVL4 (A311G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2802213	NM_022726.4(ELOVL4):c.168T>C (p.Tyr56=)	ELOVL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799898	NM_022726.4(ELOVL4):c.111G>A (p.Val37=)	ELOVL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799442	NM_022726.4(ELOVL4):c.271C>T (p.Leu91Phe)	ELOVL4 (L91F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2794357	NM_022726.4(ELOVL4):c.238A>G (p.Ile80Val)	ELOVL4 (I80V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2789686	NM_022726.4(ELOVL4):c.844G>A (p.Ala282Thr)	ELOVL4 (A282T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2782236	NM_022726.4(ELOVL4):c.101-20G>A	ELOVL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2762545	NM_022726.4(ELOVL4):c.542-18C>T	ELOVL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2762057	NM_022726.4(ELOVL4):c.370-6T>C	ELOVL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2758367	NM_022726.4(ELOVL4):c.33C>T (p.Val11=)	ELOVL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2754098	NM_022726.4(ELOVL4):c.755T>C (p.Ile252Thr)	ELOVL4 (I252T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2752951	NM_022726.4(ELOVL4):c.151A>G (p.Ser51Gly)	ELOVL4 (S51G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2751765	NM_022726.4(ELOVL4):c.41T>A (p.Val14Glu)	ELOVL4 (V14E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2703751	NM_022726.4(ELOVL4):c.188del (p.Gly63fs)	ELOVL4 (G63fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2696025	NM_022726.4(ELOVL4):c.839A>C (p.Lys280Thr)	ELOVL4 (K280T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2693507	NM_022726.4(ELOVL4):c.387G>T (p.Trp129Cys)	ELOVL4 (W129C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685207	GRCh37/hg19 6q14.1(chr6:79199356-80915988)x1	BCKDHB, ELOVL4 +7 more	Copy number loss	not provided	GPathogenic
Select item 2663146	NM_022726.4(ELOVL4):c.232G>A (p.Val78Met)	ELOVL4 (V78M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580357	NM_022726.4(ELOVL4):c.541+5G>A	ELOVL4	Single nucleotide variant (intron variant)	ELOVL4-related ataxia	GLikely pathogenic
Select item 2441210	NM_022726.4(ELOVL4):c.797A>T (p.Tyr266Phe)	ELOVL4 (Y266F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441209	NM_022726.4(ELOVL4):c.80G>T (p.Arg27Leu)	ELOVL4 (R27L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2426771	NC_000006.11:g.(?_80626325)_(80656996_?)dup	ELOVL4	Duplication	not provided	GUncertain significance
Select item 2426770	NC_000006.11:g.(?_79650410)_(80912949_?)del	BCKDHB, ELOVL4 +6 more	Deletion	Maple syrup urine disease	GPathogenic
Select item 2419708	NM_022726.4(ELOVL4):c.6G>T (p.Gly2=)	ELOVL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2330663	NM_022726.4(ELOVL4):c.608C>G (p.Ala203Gly)	ELOVL4 (A203G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299853	NM_022726.4(ELOVL4):c.899T>C (p.Ile300Thr)	ELOVL4 (I300T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228644	NM_022726.4(ELOVL4):c.580A>G (p.Ile194Val)	ELOVL4 (I194V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2170225	NM_022726.4(ELOVL4):c.309T>C (p.Asn103=)	ELOVL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2150689	NM_022726.4(ELOVL4):c.59A>G (p.Asn20Ser)	ELOVL4 (N20S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133798	NM_022726.4(ELOVL4):c.292T>C (p.Phe98Leu)	ELOVL4 (F98L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2128990	NM_022726.4(ELOVL4):c.475G>A (p.Val159Met)	ELOVL4 (V159M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2127713	NM_022726.4(ELOVL4):c.28A>C (p.Ser10Arg)	ELOVL4 (S10R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2127212	NM_022726.4(ELOVL4):c.872T>G (p.Val291Gly)	ELOVL4 (V291G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2122610	NM_022726.4(ELOVL4):c.669+3G>A	ELOVL4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2122250	NM_022726.4(ELOVL4):c.166dup (p.Tyr56fs)	ELOVL4 (Y56fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2121320	NM_022726.4(ELOVL4):c.849G>C (p.Met283Ile)	ELOVL4 (M283I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2120538	NM_022726.4(ELOVL4):c.482A>G (p.His161Arg)	ELOVL4 (H161R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2120340	NM_022726.4(ELOVL4):c.826C>A (p.Pro276Thr)	ELOVL4 (P276T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2114995	NM_022726.4(ELOVL4):c.289-14T>C	ELOVL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2113884	NM_022726.4(ELOVL4):c.397G>T (p.Val133Leu)	ELOVL4 (V133L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2112198	NM_022726.4(ELOVL4):c.869G>A (p.Gly290Asp)	ELOVL4 (G290D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111787	NM_022726.4(ELOVL4):c.922A>C (p.Asn308His)	ELOVL4 (N308H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2109327	NM_022726.4(ELOVL4):c.425_426del (p.Thr142fs)	ELOVL4 (T142fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2106930	NM_022726.4(ELOVL4):c.414G>T (p.Glu138Asp)	ELOVL4 (E138D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2103056	NM_022726.4(ELOVL4):c.739A>C (p.Met247Leu)	ELOVL4 (M247L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2101704	NM_022726.4(ELOVL4):c.309T>G (p.Asn103Lys)	ELOVL4 (N103K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2097294	NM_022726.4(ELOVL4):c.670A>G (p.Ile224Val)	ELOVL4 (I224V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2090865	NM_022726.4(ELOVL4):c.492G>A (p.Thr164=)	ELOVL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2082761	NM_022726.4(ELOVL4):c.192A>G (p.Pro64=)	ELOVL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2073522	NM_022726.4(ELOVL4):c.181T>C (p.Trp61Arg)	ELOVL4 (W61R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072632	NM_022726.4(ELOVL4):c.578T>C (p.Val193Ala)	ELOVL4 (V193A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2055285	NM_022726.4(ELOVL4):c.54A>T (p.Ala18=)	ELOVL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2053663	NM_022726.4(ELOVL4):c.253G>A (p.Gly85Arg)	ELOVL4 (G85R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2036336	NM_022726.4(ELOVL4):c.101-3T>C	ELOVL4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2021262	NM_022726.4(ELOVL4):c.597T>C (p.Tyr199=)	ELOVL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2019286	NM_022726.4(ELOVL4):c.906del (p.Asn302fs)	ELOVL4 (N302fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2011058	NM_022726.4(ELOVL4):c.426A>G (p.Thr142=)	ELOVL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2009983	NM_022726.4(ELOVL4):c.9C>T (p.Leu3=)	ELOVL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2002812	NM_022726.4(ELOVL4):c.189T>A (p.Gly63=)	ELOVL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2001141	NM_022726.4(ELOVL4):c.174G>A (p.Leu58=)	ELOVL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1967276	NM_022726.4(ELOVL4):c.689T>C (p.Ile230Thr)	ELOVL4 (I230T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1964876	NM_022726.4(ELOVL4):c.231A>G (p.Leu77=)	ELOVL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1951325	NM_022726.4(ELOVL4):c.648A>T (p.Arg216=)	ELOVL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1948588	NM_022726.4(ELOVL4):c.904A>G (p.Asn302Asp)	ELOVL4 (N302D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1942174	NM_022726.4(ELOVL4):c.670-11C>G	ELOVL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1934013	NM_022726.4(ELOVL4):c.847A>G (p.Met283Val)	ELOVL4 (M283V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1929649	NM_022726.4(ELOVL4):c.720C>G (p.Asp240Glu)	ELOVL4 (D240E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1924932	NM_022726.4(ELOVL4):c.600dup (p.Leu201fs)	ELOVL4 (L201fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1923153	NM_022726.4(ELOVL4):c.53C>T (p.Ala18Val)	ELOVL4 (A18V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1921227	NM_022726.4(ELOVL4):c.541+16A>T	ELOVL4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1919364	NM_022726.4(ELOVL4):c.663G>A (p.Leu221=)	ELOVL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1913386	NM_022726.4(ELOVL4):c.790A>G (p.Asn264Asp)	ELOVL4 (N264D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1899211	NM_022726.4(ELOVL4):c.369+15A>T	ELOVL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1808485	GRCh37/hg19 6q14.1(chr6:77773778-80880138)x3	BCKDHB, ELOVL4 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1721750	NM_022726.4(ELOVL4):c.884A>G (p.Glu295Gly)	ELOVL4 (E295G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1717960	NM_022726.4(ELOVL4):c.812A>G (p.Lys271Arg)	ELOVL4 (K271R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1713940	NM_022726.4(ELOVL4):c.55C>T (p.Leu19Phe)	ELOVL4 (L19F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1713622	NM_022726.4(ELOVL4):c.392A>G (p.Tyr131Cys)	ELOVL4 (Y131C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1711170	GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1	AKIRIN2, ANKRD6 +65 more	Copy number loss	See cases	GUncertain significance
Select item 1706234	NC_000006.12:g.79947706G>C	ELOVL4	Single nucleotide variant	not provided	GLikely benign
Select item 1669572	NM_022726.4(ELOVL4):c.541+14G>A	ELOVL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1662442	NM_022726.4(ELOVL4):c.894_895inv (p.Met299Val)	ELOVL4 (M299V)	Inversion (missense variant)	not provided	GLikely benign

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