ClinVar for Gene (Select 5610) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3356574	NM_001135651.3(EIF2AK2):c.545T>G (p.Phe182Cys)	EIF2AK2 (F182C)	Single nucleotide variant (missense variant)	EIF2AK2-related disorder	GUncertain significance
Select item 3343107	NM_001135651.3(EIF2AK2):c.1099del (p.Glu367fs)	EIF2AK2 (E326fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3274942	NM_001135651.3(EIF2AK2):c.547G>C (p.Ala183Pro)	EIF2AK2 (A183P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274941	NM_001135651.3(EIF2AK2):c.490C>A (p.Gln164Lys)	EIF2AK2 (Q164K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3274940	NM_001135651.3(EIF2AK2):c.284G>T (p.Gly95Val)	EIF2AK2 (G95V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3253536	NM_001135651.3(EIF2AK2):c.517-10T>G	EIF2AK2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3253395	NM_001135651.3(EIF2AK2):c.1352C>T (p.Thr451Ile)	EIF2AK2 (T410I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3087863	NM_001135651.3(EIF2AK2):c.983A>G (p.Asp328Gly)	EIF2AK2 (D287G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3087861	NM_001135651.3(EIF2AK2):c.584C>A (p.Thr195Asn)	EIF2AK2 (T195N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3087860	NM_001135651.3(EIF2AK2):c.1325A>G (p.Asp442Gly)	EIF2AK2 (D401G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065796	NM_001135651.3(EIF2AK2):c.1495C>T (p.Arg499Trp)	EIF2AK2 (R458W +1 more)	Single nucleotide variant (missense variant)	Dystonia 33	GUncertain significance
Select item 3065222	NM_001135651.3(EIF2AK2):c.28T>C (p.Phe10Leu)	EIF2AK2 (F10L)	Single nucleotide variant (missense variant)	Dystonia 33	GLikely benign
Select item 3062647	GRCh37/hg19 2p23.1-21(chr2:30814984-42798684)x1	ARHGEF33, ATL2 +52 more	Copy number loss	not specified	GPathogenic
Select item 3062619	GRCh37/hg19 2p22.2(chr2:36971076-38294436)x3	CDC42EP3, CEBPZ +10 more	Copy number gain	not specified	GUncertain significance
Select item 3061314	NM_001135651.3(EIF2AK2):c.1559C>T (p.Ser520Leu)	EIF2AK2 (S479L +1 more)	Single nucleotide variant (missense variant)	EIF2AK2-related disorder	GUncertain significance
Select item 3019390	NM_001135651.3(EIF2AK2):c.594C>T (p.Leu198=)	EIF2AK2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3018290	NM_001135651.3(EIF2AK2):c.1279C>G (p.Gln427Glu)	EIF2AK2 (Q386E +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3016577	NM_001135651.3(EIF2AK2):c.645A>G (p.Ile215Met)	EIF2AK2 (I215M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2895226	NM_001135651.3(EIF2AK2):c.671G>A (p.Ser224Asn)	EIF2AK2 (S224N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894441	NM_001135651.3(EIF2AK2):c.269C>T (p.Thr90Met)	EIF2AK2 (T90M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894320	NM_001135651.3(EIF2AK2):c.1480-5T>C	EIF2AK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2890713	NM_001135651.3(EIF2AK2):c.272A>G (p.Asn91Ser)	EIF2AK2 (N91S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2885950	NM_001135651.3(EIF2AK2):c.1378-10G>A	EIF2AK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2883621	NM_001135651.3(EIF2AK2):c.783G>A (p.Lys261=)	EIF2AK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2881138	NM_001135651.3(EIF2AK2):c.689A>G (p.Asn230Ser)	EIF2AK2 (N230S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2876794	NM_001135651.3(EIF2AK2):c.1248+17_1248+21del	EIF2AK2	Deletion (intron variant)	not provided	GLikely benign
Select item 2876587	NM_001135651.3(EIF2AK2):c.1479+16A>G	EIF2AK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871099	NM_001135651.3(EIF2AK2):c.594-12C>G	EIF2AK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870134	NM_001135651.3(EIF2AK2):c.1325A>T (p.Asp442Val)	EIF2AK2 (D401V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867451	NM_001135651.3(EIF2AK2):c.1068-5C>A	EIF2AK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2857661	NM_001135651.3(EIF2AK2):c.119+13A>G	EIF2AK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2828944	NM_001135651.3(EIF2AK2):c.722G>T (p.Arg241Ile)	EIF2AK2 (R241I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2815634	NM_001135651.3(EIF2AK2):c.956A>G (p.Asn319Ser)	EIF2AK2 (N278S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2815420	NM_001135651.3(EIF2AK2):c.436A>T (p.Thr146Ser)	EIF2AK2 (T146S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2806062	NM_001135651.3(EIF2AK2):c.703A>G (p.Asn235Asp)	EIF2AK2 (N235D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2804826	NM_001135651.3(EIF2AK2):c.688-13T>A	EIF2AK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2791376	NM_001135651.3(EIF2AK2):c.1129T>A (p.Trp377Arg)	EIF2AK2 (W336R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2776893	NM_001135651.3(EIF2AK2):c.1281A>G (p.Gln427=)	EIF2AK2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2776176	NM_001135651.3(EIF2AK2):c.425A>G (p.Tyr142Cys)	EIF2AK2 (Y142C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2768559	NM_001135651.3(EIF2AK2):c.120-6A>G	EIF2AK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2724311	NM_001135651.3(EIF2AK2):c.1248+17C>A	EIF2AK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2723377	NM_001135651.3(EIF2AK2):c.373G>T (p.Val125Leu)	EIF2AK2 (V125L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2715023	NM_001135651.3(EIF2AK2):c.915G>A (p.Ala305=)	EIF2AK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2695527	NM_001135651.3(EIF2AK2):c.1605C>T (p.Thr535=)	EIF2AK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2689009	NM_001135651.3(EIF2AK2):c.1067+1G>A	EIF2AK2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2689008	NM_001135651.3(EIF2AK2):c.1323T>C (p.Asn441=)	EIF2AK2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2689007	NM_001135651.3(EIF2AK2):c.1067+5C>T	EIF2AK2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2689006	NM_001135651.3(EIF2AK2):c.646A>C (p.Asn216His)	EIF2AK2 (N216H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650834	NM_001135651.3(EIF2AK2):c.198C>T (p.Ala66=)	EIF2AK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650833	NM_001135651.3(EIF2AK2):c.509C>T (p.Thr170Ile)	EIF2AK2 (T170I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650832	NM_001135651.3(EIF2AK2):c.1386G>A (p.Ser462=)	EIF2AK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650831	NM_001135651.3(EIF2AK2):c.1498G>A (p.Asp500Asn)	EIF2AK2 (D459N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2636381	NM_001135651.3(EIF2AK2):c.1313C>G (p.Ser438Cys)	EIF2AK2 (S397C +1 more)	Single nucleotide variant (missense variant)	EIF2AK2-related disorder	GUncertain significance
Select item 2634800	NM_001135651.3(EIF2AK2):c.31A>T (p.Met11Leu)	EIF2AK2 (M11L)	Single nucleotide variant (missense variant)	EIF2AK2-related disorder	GUncertain significance
Select item 2582388	NM_001135651.3(EIF2AK2):c.950A>G (p.His317Arg)	EIF2AK2 (H276R +1 more)	Single nucleotide variant (missense variant)	Dystonia 33 +1 more	GUncertain significance
Select item 2579825	NM_001135651.3(EIF2AK2):c.1344dup (p.Lys449Ter)	EIF2AK2 (K408* +1 more)	Duplication (nonsense)	not provided	GUncertain significance
Select item 2548605	NM_001135651.3(EIF2AK2):c.344C>G (p.Thr115Ser)	EIF2AK2 (T115S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2542597	NM_001135651.3(EIF2AK2):c.269C>G (p.Thr90Arg)	EIF2AK2 (T90R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532643	NM_001135651.3(EIF2AK2):c.1208A>G (p.Asp403Gly)	EIF2AK2 (D362G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526852	NM_001135651.3(EIF2AK2):c.952G>A (p.Val318Ile)	EIF2AK2 (V318I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2504333	NM_001135651.3(EIF2AK2):c.1272T>A (p.Asp424Glu)	EIF2AK2 (D383E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502698	NM_001135651.3(EIF2AK2):c.871A>G (p.Lys291Glu)	EIF2AK2 (K291E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2494091	NM_001135651.3(EIF2AK2):c.539G>A (p.Gly180Asp)	EIF2AK2 (G180D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491026	NM_001135651.3(EIF2AK2):c.521C>G (p.Ser174Cys)	EIF2AK2 (S174C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2444677	NM_001135651.3(EIF2AK2):c.722+1del	EIF2AK2	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 2442674	NM_001135651.3(EIF2AK2):c.505G>C (p.Glu169Gln)	EIF2AK2 (E169Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2425393	NC_000002.11:g.(?_37334416)_(39347563_?)dup	ARHGEF33, ATL2 +17 more	Duplication	RASopathy	GPathogenic
Select item 2417484	NM_001135651.3(EIF2AK2):c.1480-5del	EIF2AK2	Deletion (intron variant)	not provided	GLikely benign
Select item 2417275	NM_001135651.3(EIF2AK2):c.1645C>T (p.His549Tyr)	EIF2AK2 (H508Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2378621	NM_001135651.3(EIF2AK2):c.1150G>A (p.Glu384Lys)	EIF2AK2 (E343K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2338504	NM_001135651.3(EIF2AK2):c.920G>A (p.Arg307His)	EIF2AK2 (R266H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317264	NM_001135651.3(EIF2AK2):c.1025A>G (p.Glu342Gly)	EIF2AK2 (E301G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312459	NM_001135651.3(EIF2AK2):c.794T>C (p.Met265Thr)	EIF2AK2 (M265T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2303689	NM_001135651.3(EIF2AK2):c.175T>A (p.Ser59Thr)	EIF2AK2 (S59T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298480	NM_001135651.3(EIF2AK2):c.1012G>A (p.Asp338Asn)	EIF2AK2 (D338N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297318	NM_001135651.3(EIF2AK2):c.283_285del (p.Gly95del)	EIF2AK2 (G95del)	Deletion (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 2282165	NM_001135651.3(EIF2AK2):c.1039G>A (p.Asp347Asn)	EIF2AK2 (D306N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244644	NM_001135651.3(EIF2AK2):c.588C>A (p.Ser196Arg)	EIF2AK2 (S196R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229611	NM_001135651.3(EIF2AK2):c.622T>A (p.Phe208Ile)	EIF2AK2 (F208I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2194041	NM_001135651.3(EIF2AK2):c.906C>T (p.Asn302=)	EIF2AK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2191133	NM_001135651.3(EIF2AK2):c.678G>A (p.Ser226=)	EIF2AK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2184026	NM_001135651.3(EIF2AK2):c.940A>G (p.Lys314Glu)	EIF2AK2 (K273E +1 more)	Single nucleotide variant (missense variant)	Dystonia 33 +1 more	GConflicting classifications of pathogenicity
Select item 2180266	NM_001135651.3(EIF2AK2):c.228T>C (p.Asn76=)	EIF2AK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2170003	NM_001135651.3(EIF2AK2):c.255A>G (p.Leu85=)	EIF2AK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2164217	NM_001135651.3(EIF2AK2):c.270G>A (p.Thr90=)	EIF2AK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2158809	NM_001135651.3(EIF2AK2):c.1416C>T (p.Tyr472=)	EIF2AK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2143073	NM_001135651.3(EIF2AK2):c.575C>G (p.Ser192Cys)	EIF2AK2 (S192C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2134848	NM_001135651.3(EIF2AK2):c.241-9dup	EIF2AK2	Duplication (intron variant)	not provided	GBenign
Select item 2132926	NM_001135651.3(EIF2AK2):c.501A>G (p.Ser167=)	EIF2AK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2129423	NM_001135651.3(EIF2AK2):c.908+17T>C	EIF2AK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2117603	NM_001135651.3(EIF2AK2):c.899A>G (p.Tyr300Cys)	EIF2AK2 (Y300C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2113562	NM_001135651.3(EIF2AK2):c.595G>A (p.Ala199Thr)	EIF2AK2 (A199T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2110325	NM_001135651.3(EIF2AK2):c.754A>G (p.Met252Val)	EIF2AK2 (M252V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2109415	NM_001135651.3(EIF2AK2):c.1534-14C>T	EIF2AK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2108069	NM_001135651.3(EIF2AK2):c.240+20C>T	EIF2AK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2096979	NM_001135651.3(EIF2AK2):c.401A>G (p.Lys134Arg)	EIF2AK2 (K134R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2096970	NM_001135651.3(EIF2AK2):c.550A>G (p.Thr184Ala)	EIF2AK2 (T184A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085250	NM_001135651.3(EIF2AK2):c.150A>G (p.Arg50=)	EIF2AK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2082805	NM_001135651.3(EIF2AK2):c.1278A>G (p.Lys426=)	EIF2AK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2081199	NM_001135651.3(EIF2AK2):c.1643G>A (p.Arg548Gln)	EIF2AK2 (R507Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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