GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
NBN D95Ninsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D03 from PGP sample 27486199
NBN I171Vinsufficiently evaluated pathogenic, f=0.001unknown

(42 web hits)

CGI sample GS01669-DNA_H05 from PGP sample 10971581
NBN E185Qinsufficiently evaluated not reviewed, f=0.285unknown

(34 web hits)

var-GS19025-1100-36-ASM
hu34D5B9 exome
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18504-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS00253-DNA_C01_200_37 (hom)
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM (hom)
var-GS18940-1100-36-ASM
var-GS18517-1100-36-ASM
NBN R215Winsufficiently evaluated pathogenic, f=0.003unknown

(45 web hits)

NBN P266Linsufficiently evaluated not reviewed, f=0.010unknown var-GS19701-1100-36-ASM
var-GS19834-1100-36-ASM
NBN Q326Xinsufficiently evaluated pathogenicunknown

(2 web hits)

NBN Y363Xinsufficiently evaluated pathogenicunknown

(1 web hit)

NBN T452Pinsufficiently evaluated not reviewed, f=0.001unknown CGI sample GS00253-DNA_B02_200_37
NBN T497Ainsufficiently evaluated not reviewed, f=0.008unknown var-GS18508-1100-36-ASM
NBN D519Yinsufficiently evaluated not reviewedunknown
NBN L574Iinsufficiently evaluated not reviewed, f=0.001unknown CGI sample GS00253-DNA_C01_200_37
NBN F603Vinsufficiently evaluated not reviewedunknown
NBN E628Kinsufficiently evaluated not reviewed, f=0.004unknown var-GS19026-1100-36-ASM
NBN N716Dinsufficiently evaluated not reviewed, f=0.010unknown var-GS19703-1100-36-ASM
Page: 1 2
Total results: 14

Gene search

"GENE" or "GENE A123C":

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