GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
NR2E3 G56Rinsufficiently evaluated pathogenicunknown

(43 web hits)

NR2E3 G69Sinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_F02 from PGP sample 95788191
NR2E3 R76Qinsufficiently evaluated pathogenic, f=0.000unknown

(37 web hits)

NR2E3 R76Winsufficiently evaluated pathogenicunknown

(27 web hits)

NR2E3 R77Qinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F06 from PGP sample 64191565
NR2E3 E121Kinsufficiently evaluated not reviewed, f=0.000unknown var-GS18558-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS18956-1100-36-ASM
NR2E3 E140Ginsufficiently evaluated none, f=0.013unknown

(26 web hits)

var-GS18942-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS19670-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS18940-1100-36-ASM
NR2E3 M163Tinsufficiently evaluated none, f=0.016unknown

(19 web hits)

var-GS18942-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS19670-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS18940-1100-36-ASM
NR2E3 V232Iinsufficiently evaluated not reviewed, f=0.006unknown var-GS19025-1100-36-ASM
NR2E3 V302Iinsufficiently evaluated none, f=0.000unknown

(18 web hits)

NR2E3 R311Qinsufficiently evaluated pathogenic, f=0.000unknown

(106 web hits)

NR2E3 T318Shiftinsufficiently evaluated not reviewed, f=1.000unknown CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome (hom)
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 (hom)
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM (hom)
var-GS12004-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37 (hom)
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
NR2E3 V351Ainsufficiently evaluated not reviewed, f=0.008unknown var-GS07357-1100-36-ASM
NR2E3 R366Cinsufficiently evaluated unknownunknown

(3 web hits)

hu728FFF build 36 substitution variants
NR2E3 V366Minsufficiently evaluated not reviewed, f=0.008unknown var-GS19020-1100-36-ASM
Page: 1 2
Total results: 15

Gene search

"GENE" or "GENE A123C":

Log in