GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
EIF2B5 A45Ginsufficiently evaluated not reviewed, f=0.008unknown var-GS21767-1100-36-ASM
EIF2B5 F56Cinsufficiently evaluated pathogenicunknown

(1 web hit)

EIF2B5 F56Vinsufficiently evaluated pathogenicunknown

(3 web hits)

EIF2B5 T91Apathogenic, f=0.008recessive

Recessive, reported to cause leukoencephalopathy with vanishing white matter (a degenerative brain disease that manifests in childhood). Published observations of this variant were all linked to a common haplotype, indicating a single founder mutation, and carriers all had ancestors that lived in a rural region in the eastern part of the Netherlands.

(13 web hits)

var-GS10851-1100-36-ASM
EIF2B5 R113Hinsufficiently evaluated pathogenic, f=0.001unknown

(38 web hits)

EIF2B5 T182Minsufficiently evaluated pathogenicunknown

(5 web hits)

EIF2B5 R195Cinsufficiently evaluated pathogenicunknown

(9 web hits)

EIF2B5 R195Hinsufficiently evaluated pathogenicunknown

(21 web hits)

EIF2B5 L309Vinsufficiently evaluated pathogenicunknown

(1 web hit)

EIF2B5 R315Hinsufficiently evaluated pathogenicunknown

(6 web hits)

EIF2B5 G386Vinsufficiently evaluated pathogenicunknown

(7 web hits)

EIF2B5 D415Einsufficiently evaluated not reviewedunknown
EIF2B5 D476Einsufficiently evaluated none, f=0.000unknown var-GS19129-1100-36-ASM
EIF2B5 E536Dinsufficiently evaluated not reviewed, f=0.001unknown
EIF2B5 I587Vinsufficiently evaluated not reviewed, f=0.329unknown

(1 web hit)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM (hom)
var-GS19020-1100-36-ASM
var-GS18558-1100-36-ASM
CGI sample GS000006909
var-GS07357-1100-36-ASM
var-GS19703-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS00253-DNA_A01_200_37 (hom)
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19240-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
EIF2B5 W628Rinsufficiently evaluated pathogenicunknown

(10 web hits)

EIF2B5 V666Shiftinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_B02_200_37
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Total results: 17

Gene search

"GENE" or "GENE A123C":

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