"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "EIF2B5"[ge - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1675939	NC_000003.12:g.184135287G>A	EIF2B5, LOC129938040	Single nucleotide variant (genic upstream transcript variant)	not provided	GUncertain significance
Select item 344332	NM_003907.3(EIF2B5):c.299C>T (p.Ala100Val)	EIF2B5 (A100V)	Single nucleotide variant (missense variant)	Vanishing white matter disease +1 more	GConflicting classifications of pathogenicity
Select item 763954	NM_003907.3(EIF2B5):c.453G>A (p.Val151=)	EIF2B5	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 5949	NM_003907.3(EIF2B5):c.545C>T (p.Thr182Met)	EIF2B5 (T182M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 766638	NM_003907.3(EIF2B5):c.924T>C (p.Ala308=)	EIF2B5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1077966	NM_003907.3(EIF2B5):c.1048C>T (p.Leu350=)	EIF2B5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1112170	NM_003907.3(EIF2B5):c.1143C>T (p.Pro381=)	EIF2B5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 493379	NM_003907.3(EIF2B5):c.1144G>A (p.Gly382Ser)	EIF2B5 (G382S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 872660	NM_003907.3(EIF2B5):c.1208C>T (p.Ala403Val)	EIF2B5 (A403V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 344335	NM_003907.3(EIF2B5):c.1341G>A (p.Ser447=)	EIF2B5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2581432	NM_003907.3(EIF2B5):c.1360C>T (p.Pro454Ser)	EIF2B5 (P454S)	Single nucleotide variant (missense variant)	Vanishing white matter disease +1 more	GConflicting classifications of pathogenicity
Select item 809571	NM_003907.3(EIF2B5):c.1396A>C (p.Ser466Arg)	EIF2B5 (S466R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 259194	NM_003907.3(EIF2B5):c.1614G>A (p.Pro538=)	EIF2B5	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 259195	NM_003907.3(EIF2B5):c.1686G>A (p.Gln562=)	EIF2B5	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1135725	NM_003907.3(EIF2B5):c.1935G>A (p.Ala645=)	EIF2B5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 779329	NM_003907.3(EIF2B5):c.1956C>T (p.Phe652=)	EIF2B5	Single nucleotide variant (synonymous variant)	Vanishing white matter disease +2 more	GConflicting classifications of pathogenicity
Select item 798717	NM_003907.3(EIF2B5):c.1960C>T (p.Leu654=)	EIF2B5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234233	NM_003907.3(EIF2B5):c.2090T>G (p.Leu697Trp)	EIF2B5 (L697W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance