GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
GLE1 V132Iinsufficiently evaluated not reviewedunknown
GLE1 I243Vinsufficiently evaluated none, f=0.266unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
hu34D5B9 exome
hu3215A7 build 36 substitution variants (hom)
var-GS18942-1100-36-ASM
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
CGI sample GS000006909
CGI sample GS00253-DNA_G01_200_37
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
var-GS19648-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
GLE1 R316Qinsufficiently evaluated not reviewed, f=0.001unknown CGI sample GS00253-DNA_C01_200_37
GLE1 E334Kinsufficiently evaluated not reviewed, f=0.007unknown var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19670-1100-36-ASM
GLE1 P363Linsufficiently evaluated not reviewed, f=0.008unknown var-GS19704-1100-36-ASM
GLE1 V466Iinsufficiently evaluated none, f=0.008unknown

(1 web hit)

GLE1 R569Hinsufficiently evaluated pathogenic, f=0.000unknown
GLE1 V617Minsufficiently evaluated pathogenicunknown
GLE1 I684Tinsufficiently evaluated pathogenicunknown
Total results: 9

Gene search

"GENE" or "GENE A123C":

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