Related gene-specific medical variations for Gene (Select 8893) - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246991	NC_000003.11:g.(?_183853174)_(183856054_?)del	EIF2B5	Deletion	not provided	GPathogenic
Select item 3246990	NC_000003.11:g.(?_183853164)_(183862741_?)del	EIF2B5	Deletion	not provided	GPathogenic
Select item 3087905	NM_003907.3(EIF2B5):c.82G>A (p.Gly28Ser)	EIF2B5, LOC129938041 (G28S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3002226	NM_003907.3(EIF2B5):c.171C>T (p.Phe57=)	EIF2B5, LOC129938041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957550	NM_003907.3(EIF2B5):c.173C>G (p.Pro58Arg)	EIF2B5, LOC129938041 (P58R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2911287	NM_003907.3(EIF2B5):c.150T>C (p.Asp50=)	EIF2B5, LOC129938041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902542	NM_003907.3(EIF2B5):c.78C>T (p.Gly26=)	EIF2B5, LOC129938041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889099	NM_003907.3(EIF2B5):c.177C>T (p.Ile59=)	EIF2B5, LOC129938041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875056	NM_003907.3(EIF2B5):c.123G>A (p.Pro41=)	EIF2B5, LOC129938041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2863109	NM_003907.3(EIF2B5):c.165C>T (p.Arg55=)	EIF2B5, LOC129938041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2828108	NM_003907.3(EIF2B5):c.84T>C (p.Gly28=)	EIF2B5, LOC129938041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807679	NM_003907.3(EIF2B5):c.105G>T (p.Ala35=)	EIF2B5, LOC129938041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2684187	NM_003907.3(EIF2B5):c.386G>A (p.Arg129Gln)	EIF2B5 (R129Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2637944	NM_003907.3(EIF2B5):c.320+68C>G	EIF2B5	Single nucleotide variant (intron variant)	Leukoencephalopathy with vanishing white matter 5	GUncertain significance
Select item 2441991	NM_003907.3(EIF2B5):c.185A>T (p.Asp62Val)	EIF2B5 (D62V)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 2441203	NM_003907.3(EIF2B5):c.2049C>G (p.Ser683Arg)	EIF2B5 (S683R)	Single nucleotide variant (missense variant)	Leukoencephalopathy with vanishing white matter 5	GUncertain significance
Select item 2417403	NM_003907.3(EIF2B5):c.88G>T (p.Gly30Trp)	EIF2B5, LOC129938041 (G30W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2163790	NM_003907.3(EIF2B5):c.179C>T (p.Ser60Phe)	EIF2B5, LOC129938041 (S60F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2142794	NM_003907.3(EIF2B5):c.139C>A (p.Leu47Met)	EIF2B5, LOC129938041 (L47M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2100690	NM_003907.3(EIF2B5):c.127C>T (p.Leu43=)	LOC129938041, EIF2B5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2001691	NM_003907.3(EIF2B5):c.133G>A (p.Ala45Thr)	EIF2B5, LOC129938041 (A45T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1989877	NM_003907.3(EIF2B5):c.121C>T (p.Pro41Ser)	EIF2B5, LOC129938041 (P41S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933452	NM_003907.3(EIF2B5):c.81C>T (p.Ser27=)	LOC129938041, EIF2B5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1916859	NM_003907.3(EIF2B5):c.87C>T (p.Gly29=)	EIF2B5, LOC129938041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1717936	NM_003907.3(EIF2B5):c.74G>T (p.Gly25Val)	EIF2B5, LOC129938041 (G25V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1672457	NM_003907.3(EIF2B5):c.87C>A (p.Gly29=)	EIF2B5, LOC129938041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1632694	NM_003907.3(EIF2B5):c.135A>C (p.Ala45=)	EIF2B5, LOC129938041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1585992	NM_003907.3(EIF2B5):c.114A>G (p.Glu38=)	EIF2B5, LOC129938041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1572964	NM_003907.3(EIF2B5):c.108G>A (p.Glu36=)	LOC129938041, EIF2B5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1550277	NM_003907.3(EIF2B5):c.129A>G (p.Leu43=)	EIF2B5, LOC129938041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1413278	NM_003907.3(EIF2B5):c.95C>G (p.Ala32Gly)	EIF2B5, LOC129938041 (A32G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1372063	NM_003907.3(EIF2B5):c.170T>C (p.Phe57Ser)	EIF2B5, LOC129938041 (F57S)	Single nucleotide variant (missense variant)	Vanishing white matter disease +1 more	GUncertain significance
Select item 1162188	NM_003907.3(EIF2B5):c.102G>A (p.Gly34=)	EIF2B5, LOC129938041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1160507	NM_003907.3(EIF2B5):c.135A>G (p.Ala45=)	EIF2B5, LOC129938041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1138767	NM_003907.3(EIF2B5):c.75A>G (p.Gly25=)	EIF2B5, LOC129938041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1135601	NM_003907.3(EIF2B5):c.84T>A (p.Gly28=)	EIF2B5, LOC129938041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1124314	NM_003907.3(EIF2B5):c.105G>C (p.Ala35=)	EIF2B5, LOC129938041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1103733	NM_003907.3(EIF2B5):c.139C>T (p.Leu47=)	EIF2B5, LOC129938041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 989685	NM_003907.3(EIF2B5):c.1451A>G (p.Asn484Ser)	EIF2B5 (N484S)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 976615	NM_003907.3(EIF2B5):c.134C>G (p.Ala45Gly)	EIF2B5, LOC129938041 (A45G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 374587	NM_003907.3(EIF2B5):c.1077T>A (p.Asn359Lys)	EIF2B5 (N359K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 344330	NM_003907.3(EIF2B5):c.182A>G (p.Lys61Arg)	EIF2B5, LOC129938041 (K61R)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 344329	NM_003907.3(EIF2B5):c.115C>G (p.Pro39Ala)	EIF2B5, LOC129938041 (P39A)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 5952	NM_003907.3(EIF2B5):c.167T>G (p.Phe56Cys)	EIF2B5, LOC129938041 (F56C)	Single nucleotide variant (missense variant)	Leukoencephalopathy with vanishing white matter 5	GPathogenic
Select item 5951	NM_003907.3(EIF2B5):c.166T>G (p.Phe56Val)	EIF2B5, LOC129938041 (F56V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity

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Links from Gene

Items: 45