9437[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 57240	GRCh38/hg38 2p22.2-22.1(chr2:36809304-38309455)x3	ATL2, CDC42EP3 +66 more	Copy number gain	See cases	GUncertain significance
Select item 150617	GRCh38/hg38 2p22.2-21(chr2:37000557-41954686)x1	ARHGEF33, ATL2 +154 more	Copy number loss	See cases	GPathogenic
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 2081199	NM_001135651.3(EIF2AK2):c.1643G>A (p.Arg548Gln)	EIF2AK2 (R507Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707617	NM_001135651.3(EIF2AK2):c.1631A>G (p.Glu544Gly)	EIF2AK2 (E503G +1 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome	GUncertain significance
Select item 2695527	NM_001135651.3(EIF2AK2):c.1605C>T (p.Thr535=)	EIF2AK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2070177	NM_001135651.3(EIF2AK2):c.1597C>G (p.Leu533Val)	EIF2AK2 (L492V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 3367652	NM_001135651.3(EIF2AK2):c.1546C>T (p.Gln516Ter)	EIF2AK2 (Q475* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1982627	NM_001135651.3(EIF2AK2):c.1538C>T (p.Thr513Ile)	EIF2AK2 (T513I +1 more)	Single nucleotide variant (missense variant)	not provided	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 1704514	NM_001135651.3(EIF2AK2):c.1504A>G (p.Ile502Val)	EIF2AK2 (I461V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1975850	NM_001135651.3(EIF2AK2):c.1496G>A (p.Arg499Gln)	EIF2AK2 (R499Q +1 more)	Single nucleotide variant (missense variant)	not provided	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 2894320	NM_001135651.3(EIF2AK2):c.1480-5T>C	EIF2AK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2417484	NM_001135651.3(EIF2AK2):c.1480-5del	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 3371294	NM_001135651.3(EIF2AK2):c.1430T>A (p.Ile477Asn)	EIF2AK2 (I436N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2158809	NM_001135651.3(EIF2AK2):c.1416C>T (p.Tyr472=)	EIF2AK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1571185	NM_001135651.3(EIF2AK2):c.1413C>G (p.Leu471=)	EIF2AK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2024687	NM_001135651.3(EIF2AK2):c.1411C>A (p.Leu471Ile)	EIF2AK2 (L471I +1 more)	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 818200	NM_001135651.3(EIF2AK2):c.1382C>G (p.Ser461Cys)	EIF2AK2 (S420C +1 more)	Single nucleotide variant (missense variant)	Global developmental delay +3 more	GConflicting classifications of pathogenicity
Select item 2885950	NM_001135651.3(EIF2AK2):c.1378-10G>A	EIF2AK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1971198	NM_001135651.3(EIF2AK2):c.1377+20T>G	EIF2AK2	Single nucleotide variant (intron variant)	not provided	GBenign
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 2579825	NM_001135651.3(EIF2AK2):c.1344dup (p.Lys449Ter)	EIF2AK2 (K408* +1 more)	Duplication (nonsense)	not provided	GUncertain significance
Select item 2070047	NM_001135651.3(EIF2AK2):c.1331A>G (p.Lys444Arg)	EIF2AK2 (K444R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 2689008	NM_001135651.3(EIF2AK2):c.1323T>C (p.Asn441=)	EIF2AK2	Single nucleotide variant (synonymous 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 2776893	NM_001135651.3(EIF2AK2):c.1281A>G (p.Gln427=)	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 2082805	NM_001135651.3(EIF2AK2):c.1278A>G (p.Lys426=)	EIF2AK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3368923	NM_001135651.3(EIF2AK2):c.1259T>C (p.Ile420Thr)	EIF2AK2 (I379T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2015742	NM_001135651.3(EIF2AK2):c.1249-6dup	EIF2AK2	Duplication (intron variant)	not provided	GBenign
Select item 2039687	NM_001135651.3(EIF2AK2):c.1249-6del	EIF2AK2	Deletion (intron variant)	not provided	GBenign/Likely benign
Select item 1975594	NM_001135651.3(EIF2AK2):c.1249-16T>A	EIF2AK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876794	NM_001135651.3(EIF2AK2):c.1248+17_1248+21del	EIF2AK2	Deletion (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 3370945	NM_001135651.3(EIF2AK2):c.1211A>G (p.Tyr404Cys)	EIF2AK2 (Y363C +1 more)	Single nucleotide variant (missense variant)	not provided	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 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 1806794	NM_001135651.3(EIF2AK2):c.1130G>T (p.Trp377Leu)	EIF2AK2 (W336L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3343107	NM_001135651.3(EIF2AK2):c.1099del (p.Glu367fs)	EIF2AK2 (E326fs +1 more)	Deletion (frameshift 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 1977129	NM_001135651.3(EIF2AK2):c.1068-11T>C	EIF2AK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2689007	NM_001135651.3(EIF2AK2):c.1067+5C>T	EIF2AK2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2689009	NM_001135651.3(EIF2AK2):c.1067+1G>A	EIF2AK2	Single nucleotide variant (splice donor variant)	not provided	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 1674942	NM_001135651.3(EIF2AK2):c.1026G>A (p.Glu342=)	EIF2AK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 818084	NM_001135651.3(EIF2AK2):c.973G>A (p.Gly325Ser)	EIF2AK2 (G284S +1 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1342569	NM_001135651.3(EIF2AK2):c.971A>G (p.Asn324Ser)	EIF2AK2 (N283S +1 more)	Single nucleotide variant (missense variant)	Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 2715023	NM_001135651.3(EIF2AK2):c.915G>A (p.Ala305=)	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 2194041	NM_001135651.3(EIF2AK2):c.906C>T (p.Asn302=)	EIF2AK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 1684712	NM_001135651.3(EIF2AK2):c.891T>C (p.Arg297=)	EIF2AK2	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 788395	NM_001135651.3(EIF2AK2):c.876T>C (p.Thr292=)	EIF2AK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 2069463	NM_001135651.3(EIF2AK2):c.868G>A (p.Gly290Arg)	EIF2AK2 (G290R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2064981	NM_001135651.3(EIF2AK2):c.833T>A (p.Phe278Tyr)	EIF2AK2 (F278Y)	Single nucleotide variant (missense variant +1 more)	not provided	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 2023026	NM_001135651.3(EIF2AK2):c.786-19A>C	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 2025974	NM_001135651.3(EIF2AK2):c.770A>C (p.Tyr257Ser)	EIF2AK2 (Y257S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703161	NM_001135651.3(EIF2AK2):c.770A>G (p.Tyr257Cys)	EIF2AK2 (Y257C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2016102	NM_001135651.3(EIF2AK2):c.763A>T (p.Thr255Ser)	EIF2AK2 (T255S)	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 1995755	NM_001135651.3(EIF2AK2):c.722+10A>T	EIF2AK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2444677	NM_001135651.3(EIF2AK2):c.722+1del	EIF2AK2	Deletion (splice donor variant)	not provided	GUncertain significance
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 2066667	NM_001135651.3(EIF2AK2):c.719A>G (p.Lys240Arg)	EIF2AK2 (K240R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371852	NM_001135651.3(EIF2AK2):c.713A>G (p.Lys238Arg)	EIF2AK2 (K238R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2881138	NM_001135651.3(EIF2AK2):c.689A>G (p.Asn230Ser)	EIF2AK2 (N230S)	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 2067830	NM_001135651.3(EIF2AK2):c.687+5C>T	EIF2AK2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2065025	NM_001135651.3(EIF2AK2):c.681G>A (p.Leu227=)	EIF2AK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2191133	NM_001135651.3(EIF2AK2):c.678G>A (p.Ser226=)	EIF2AK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2689006	NM_001135651.3(EIF2AK2):c.646A>C (p.Asn216His)	EIF2AK2 (N216H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2229611	NM_001135651.3(EIF2AK2):c.622T>A (p.Phe208Ile)	EIF2AK2 (F208I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1998372	NM_001135651.3(EIF2AK2):c.597T>C (p.Ala199=)	EIF2AK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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