EIF2D[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 545154	NC_000001.11:g.(?_204033173)_(208209798_?)del	LOC129932391, PIK3C2B +278 more	Deletion	Autism	GLikely pathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 3312980	NM_182663.4(RASSF5):c.628G>A (p.Glu210Lys)	EIF2D, RASSF5 (E210K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235190	NM_182663.4(RASSF5):c.662G>A (p.Arg221Gln)	EIF2D, RASSF5 (R68Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460149	NM_182663.4(RASSF5):c.818C>T (p.Thr273Ile)	EIF2D, RASSF5 (T273I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383865	NM_182663.4(RASSF5):c.964A>G (p.Lys322Glu)	EIF2D, RASSF5 (K169E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151945	NM_182663.4(RASSF5):c.968G>A (p.Arg323Gln)	EIF2D, RASSF5 (R170Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313729	NM_182663.4(RASSF5):c.970A>T (p.Ile324Leu)	EIF2D, RASSF5 (I171L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616014	NM_182663.4(RASSF5):c.1019G>A (p.Arg340His)	EIF2D, RASSF5 (R187H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472096	NM_182663.4(RASSF5):c.1051G>A (p.Asp351Asn)	EIF2D, RASSF5 (D198N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151938	NM_182663.4(RASSF5):c.1097A>C (p.Glu366Ala)	EIF2D, RASSF5 (E213A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312981	NM_182663.4(RASSF5):c.1120A>C (p.Ile374Leu)	EIF2D, RASSF5 (I221L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555789	NM_182663.4(RASSF5):c.1168G>C (p.Asp390His)	EIF2D, RASSF5 (D390H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547359	NM_006893.3(EIF2D):c.1732C>T (p.Leu578Phe)	EIF2D (L454F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516489	NM_006893.3(EIF2D):c.1681C>T (p.Leu561Phe)	EIF2D (L561F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234789	NM_006893.3(EIF2D):c.1612C>T (p.Pro538Ser)	EIF2D (P538S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240756	NM_006893.3(EIF2D):c.1580G>A (p.Arg527Gln)	EIF2D (R403Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603475	NM_006893.3(EIF2D):c.1523G>A (p.Arg508Gln)	EIF2D (R384Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256494	NM_006893.3(EIF2D):c.1496C>T (p.Ala499Val)	EIF2D (A375V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472622	NM_006893.3(EIF2D):c.1445T>C (p.Ile482Thr)	EIF2D (I482T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400374	NM_006893.3(EIF2D):c.1432G>A (p.Gly478Arg)	EIF2D (G354R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485397	NM_006893.3(EIF2D):c.1369T>C (p.Trp457Arg)	EIF2D (W457R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274972	NM_006893.3(EIF2D):c.1331T>C (p.Leu444Ser)	EIF2D (L444S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532463	NM_006893.3(EIF2D):c.1312A>G (p.Ile438Val)	EIF2D (I314V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205931	NM_006893.3(EIF2D):c.1294C>G (p.Leu432Val)	EIF2D (L432V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639861	NM_006893.3(EIF2D):c.1261A>G (p.Lys421Glu)	EIF2D (K297E +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3274970	NM_006893.3(EIF2D):c.1243G>A (p.Val415Ile)	EIF2D (V415I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2523019	NM_006893.3(EIF2D):c.1171A>G (p.Met391Val)	EIF2D (M391V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530047	NM_006893.3(EIF2D):c.1085C>T (p.Pro362Leu)	EIF2D (P362L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240755	NM_006893.3(EIF2D):c.1063T>G (p.Phe355Val)	EIF2D (F355V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639862	NM_006893.3(EIF2D):c.1050G>A (p.Pro350=)	EIF2D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3087906	NM_006893.3(EIF2D):c.1049C>T (p.Pro350Leu)	EIF2D (P226L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601668	NM_006893.3(EIF2D):c.974A>G (p.Gln325Arg)	EIF2D (Q325R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392155	NM_006893.3(EIF2D):c.907G>A (p.Glu303Lys)	EIF2D (E179K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321524	NM_006893.3(EIF2D):c.898T>C (p.Cys300Arg)	EIF2D, LOC126805989 (C300R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274973	NM_006893.3(EIF2D):c.896C>T (p.Ser299Phe)	EIF2D, LOC126805989 (S299F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260085	NM_006893.3(EIF2D):c.713T>G (p.Leu238Arg)	EIF2D, LOC126805989 (L238R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311261	NM_006893.3(EIF2D):c.652A>G (p.Met218Val)	EIF2D, LOC126805989 (M218V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087910	NM_006893.3(EIF2D):c.635A>T (p.Gln212Leu)	EIF2D (Q212L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221891	NM_006893.3(EIF2D):c.590A>T (p.Asp197Val)	EIF2D (D197V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087909	NM_006893.3(EIF2D):c.505C>A (p.Leu169Ile)	EIF2D (L169I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529004	NM_006893.3(EIF2D):c.449C>T (p.Ala150Val)	EIF2D (A150V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221803	NM_006893.3(EIF2D):c.445G>T (p.Ala149Ser)	EIF2D (A149S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639863	NM_006893.3(EIF2D):c.422+4C>T	EIF2D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3274975	NM_006893.3(EIF2D):c.370C>G (p.Leu124Val)	EIF2D (L124V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478637	NM_006893.3(EIF2D):c.310G>A (p.Glu104Lys)	EIF2D (E104K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087908	NM_006893.3(EIF2D):c.290C>T (p.Thr97Ile)	EIF2D (T97I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231689	NM_006893.3(EIF2D):c.254C>T (p.Thr85Met)	EIF2D (T85M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380346	NM_006893.3(EIF2D):c.101G>A (p.Gly34Glu)	EIF2D (G34E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543396	NM_006893.3(EIF2D):c.70G>A (p.Ala24Thr)	EIF2D (A24T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331790	NM_006893.3(EIF2D):c.60A>T (p.Arg20Ser)	EIF2D (R20S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274974	NM_006893.3(EIF2D):c.11A>G (p.Lys4Arg)	EIF2D (K4R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 688022	GRCh37/hg19 1q32.1-32.3(chr1:206329070-213263817)x3	ANGEL2, ATF3 +63 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 523270	GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646)	CAMK1G, CD34 +75 more	Copy number loss	Global developmental delay +2 more	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 68