GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
APP T276Sinsufficiently evaluated not reviewed, f=0.002unknown var-GS19020-1100-36-ASM
var-GS19701-1100-36-ASM
APP T278Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS19700-1100-36-ASM
APP TT279Delinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
APP T280Delinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F06 from PGP sample 64191565
APP S483Ginsufficiently evaluated not reviewedunknown

(1 web hit)

APP R512Hinsufficiently evaluated noneunknown
APP S539Ginsufficiently evaluated not reviewedunknown
APP S558Ginsufficiently evaluated not reviewedunknown
APP R568Hinsufficiently evaluated noneunknown
APP R587Hinsufficiently evaluated noneunknown
APP S595Ginsufficiently evaluated not reviewedunknown
APP S614Ginsufficiently evaluated not reviewed, f=0.006unknown
APP R624Hinsufficiently evaluated noneunknown

(1 web hit)

APP R643Hinsufficiently evaluated none, f=0.000unknown

(1 web hit)

APP E665Dinsufficiently evaluated pathogenicunknown

(7 web hits)

APP A673Vinsufficiently evaluated pathogenicunknown

(123 web hits)

APP A692Ginsufficiently evaluated pathogenicdominant

(161 web hits)

APP E693Ginsufficiently evaluated pathogenicunknown

(410 web hits)

APP E693Kinsufficiently evaluated pathogenicdominant

(45 web hits)

APP E693Qinsufficiently evaluated pathogenicunknown

(266 web hits)

APP N694Dinsufficiently evaluated pathogenicunknown

(2 web hits)

APP L705Vinsufficiently evaluated pathogenicunknown

(18 web hits)

APP A713Tinsufficiently evaluated pathogenicunknown

(119 web hits)

APP T714Ainsufficiently evaluated pathogenicunknown

(32 web hits)

APP T714Iinsufficiently evaluated pathogenicdominant

(165 web hits)

APP V715Minsufficiently evaluated pathogenicunknown

(65 web hits)

APP I716Vinsufficiently evaluated pathogenicunknown

(145 web hits)

APP V717Finsufficiently evaluated pathogenicunknown

(2110 web hits)

APP V717Ginsufficiently evaluated pathogenicunknown

(141 web hits)

APP V717Iinsufficiently evaluated pathogenicunknown

(1130 web hits)

APP V717Linsufficiently evaluated pathogenicunknown

(179 web hits)

APPBP2 L299Finsufficiently evaluated not reviewedunknown
APPBP2 S561Ninsufficiently evaluated none, f=0.140unknown var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
CGI sample GS00253-DNA_B02_200_37
var-GS19240-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
APPL1 E67Ginsufficiently evaluated not reviewed, f=0.003unknown var-GS21767-1100-36-ASM
APPL1 G319Rinsufficiently evaluated noneunknown

(7 web hits)

APPL1 D334Einsufficiently evaluated not reviewed, f=0.012unknown

(1 web hit)

var-GS19834-1100-36-ASM
APPL1 R478Hinsufficiently evaluated not reviewed, f=0.000unknown var-GS20509-1100-36-ASM
APPL1 N654Sinsufficiently evaluated not reviewed, f=0.001unknown var-GS10851-1100-36-ASM
APPL1 E700Ginsufficiently evaluated not reviewed, f=0.125unknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19700-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
var-GS07357-1100-36-ASM
CGI sample GS000005532
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_C01_200_37
CGI sample GS00253-DNA_A02_200_37 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
APPL2 A433Vinsufficiently evaluated none, f=0.166unknown CGI sample GS00253-DNA_E01_200_37
hu3215A7 build 36 substitution variants (hom)
var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
CGI sample GS000005532
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_C01_200_37
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM (hom)
APPL2 T540Ainsufficiently evaluated not reviewedunknown
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Total results: 41

Gene search

"GENE" or "GENE A123C":

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