"GeneDx"[submitter] AND "EIF2B5"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 1177820	NC_000003.12:g.184134987C>A	EIF2B5, EIF2B5-DT	Single nucleotide variant	not provided	GBenign
Select item 344322	NM_003907.2(EIF2B5):c.-313A>G	EIF2B5, EIF2B5-DT	Single nucleotide variant (non-coding transcript variant)	Vanishing white matter disease +1 more	GBenign
Select item 2662452	NM_003907.3(EIF2B5):c.56G>T (p.Arg19Leu)	EIF2B5 (R19L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1287088	NM_003907.3(EIF2B5):c.196-82G>T	EIF2B5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 5942	NM_003907.3(EIF2B5):c.271A>G (p.Thr91Ala)	EIF2B5 (T91A)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 195203	NM_003907.3(EIF2B5):c.318A>T (p.Leu106Phe)	EIF2B5 (L106F)	Single nucleotide variant (missense variant)	Leukoencephalopathy with vanishing white matter 1 +3 more	GPathogenic
Select item 3365381	NM_003907.3(EIF2B5):c.325T>G (p.Ser109Ala)	EIF2B5 (S109A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 692118	NM_003907.3(EIF2B5):c.337C>T (p.Arg113Cys)	EIF2B5 (R113C)	Single nucleotide variant (missense variant)	Vanishing white matter disease +1 more	GPathogenic/Likely pathogenic
Select item 5945	NM_003907.3(EIF2B5):c.338G>A (p.Arg113His)	EIF2B5 (R113H)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 560268	NM_003907.3(EIF2B5):c.349C>G (p.Leu117Val)	EIF2B5 (L117V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 381578	NM_003907.3(EIF2B5):c.380T>C (p.Leu127Pro)	EIF2B5 (L127P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1269940	NM_003907.3(EIF2B5):c.766-235A>G	EIF2B5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707203	NM_003907.3(EIF2B5):c.799C>T (p.Gln267Ter)	EIF2B5 (Q267*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1261508	NM_003907.3(EIF2B5):c.843+86A>G	EIF2B5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 372360	NM_003907.3(EIF2B5):c.895C>T (p.Arg299Cys)	EIF2B5 (R299C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 372361	NM_003907.3(EIF2B5):c.896G>A (p.Arg299His)	EIF2B5 (R299H)	Single nucleotide variant (missense variant)	Vanishing white matter disease +2 more	GPathogenic/Likely pathogenic
Select item 5950	NM_003907.3(EIF2B5):c.944G>A (p.Arg315His)	EIF2B5 (R315H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1303887	NM_003907.3(EIF2B5):c.965C>T (p.Thr322Ile)	EIF2B5 (T322I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 666195	NM_003907.3(EIF2B5):c.1015C>T (p.Arg339Trp)	EIF2B5 (R339W)	Single nucleotide variant (missense variant)	Vanishing white matter disease +2 more	GPathogenic/Likely pathogenic
Select item 692119	NM_003907.3(EIF2B5):c.1016G>C (p.Arg339Pro)	EIF2B5 (R339P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 381579	NM_003907.3(EIF2B5):c.1016G>A (p.Arg339Gln)	EIF2B5 (R339Q)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 1229989	NM_003907.3(EIF2B5):c.1156+197T>C	EIF2B5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208981	NM_003907.3(EIF2B5):c.1280C>T (p.Pro427Leu)	EIF2B5 (P427L)	Single nucleotide variant (missense variant)	Leukoencephalopathy with vanishing white matter 5 +2 more	GPathogenic/Likely pathogenic
Select item 1196074	NM_003907.3(EIF2B5):c.1302+11A>T	EIF2B5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 813359	NM_003907.3(EIF2B5):c.1340C>T (p.Ser447Leu)	EIF2B5 (S447L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 421630	NM_003907.3(EIF2B5):c.1345A>T (p.Ile449Phe)	EIF2B5 (I449F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1120828	NM_003907.3(EIF2B5):c.1445-10C>G	EIF2B5	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 503917	NM_003907.3(EIF2B5):c.1590_1592delinsCC (p.Glu530fs)	EIF2B5 (E530fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 2579996	NM_003907.3(EIF2B5):c.1646A>C (p.Asp549Ala)	EIF2B5 (D549A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1223330	NM_003907.3(EIF2B5):c.1745+134A>G	EIF2B5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271694	NM_003907.3(EIF2B5):c.1746-143C>T	EIF2B5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 94381	NM_003907.3(EIF2B5):c.1759A>G (p.Ile587Val)	EIF2B5 (I587V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1260952	NM_003907.3(EIF2B5):c.1870-137A>C	EIF2B5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 420049	NM_003907.3(EIF2B5):c.1946T>C (p.Ile649Thr)	EIF2B5 (I649T)	Single nucleotide variant (missense variant)	Vanishing white matter disease +1 more	GPathogenic/Likely pathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic

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Items: 37