GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
AIRE M1Linsufficiently evaluated pathogenicunknown

(7140 web hits)

AIRE K83Einsufficiently evaluated pathogenicunknown

(55 web hits)

AIRE Y85Cinsufficiently evaluated not reviewedunknown

(44 web hits)

AIRE P116Linsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
AIRE R139Xinsufficiently evaluated pathogenicunknown

(98 web hits)

AIRE P166Linsufficiently evaluated not reviewed, f=0.006unknown var-GS19239-1100-36-ASM
AIRE A176Vinsufficiently evaluated noneunknown

(1 web hit)

AIRE G228Winsufficiently evaluated pathogenicunknown

(136 web hits)

AIRE S248Rinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_D02 from PGP sample 27316983
AIRE R257Xinsufficiently evaluated pathogenic, f=0.000recessive

This variant associated with Autoimmune Polyendocrinopathy Syndrome Type 1

(313 web hits)

AIRE S278Rinsufficiently evaluated none, f=0.155unknown

(20 web hits)

CGI sample GS00253-DNA_E01_200_37
var-GS18942-1100-36-ASM
var-GS19020-1100-36-ASM (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS21767-1100-36-ASM
var-GS19239-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS18537-1100-36-ASM (hom)
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS06994-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
AIRE V301Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
AIRE R303Qinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D01 from PGP sample 31286272
AIRE A373Vinsufficiently evaluated none, f=0.000unknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
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Total results: 14

Gene search

"GENE" or "GENE A123C":

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