GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
F2 R67Hinsufficiently evaluated pathogenicunknown

(37 web hits)

F2 R98Winsufficiently evaluated pathogenicunknown

(46 web hits)

F2 R124Qinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
F2 E157Kinsufficiently evaluated pathogenicunknown

(10 web hits)

F2 T165Minsufficiently evaluated none, f=0.094unknown

(6 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
hu232307 build 36 substitution variants
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS18555-1100-36-ASM (hom)
var-GS18537-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS18956-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
F2 E200Kinsufficiently evaluated not reviewed, f=0.001unknown hu232307 build 36 substitution variants
F2 R271Cinsufficiently evaluated pathogenicunknown

(6 web hits)

F2 E300Kinsufficiently evaluated pathogenicunknown

(4 web hits)

F2 E309Kinsufficiently evaluated pathogenicunknown

(3 web hits)

F2 M337Tinsufficiently evaluated pathogenicunknown

(1 web hit)

F2 R382Cinsufficiently evaluated pathogenicunknown

(2 web hits)

F2 R388Hinsufficiently evaluated pathogenicunknown
F2 D552Einsufficiently evaluated pathogenicunknown

(1 web hit)

F2 G558Vinsufficiently evaluated pathogenicunknown
F2R A26Sinsufficiently evaluated not reviewedunknown

(5 web hits)

F2R P29Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS18956-1100-36-ASM
F2R R305Cinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_D01_200_37
F2R K307Einsufficiently evaluated noneunknown
F2R A349Vinsufficiently evaluated not reviewed, f=0.000unknown
F2R S412Yinsufficiently evaluated not reviewed, f=0.000unknown var-GS19669-1100-36-ASM
F2RL1 S21Finsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
F2RL1 S30Ninsufficiently evaluated none, f=0.999unknown 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)
hu3215A7 build 36 substitution variants (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
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)
hu232307 build 36 substitution variants (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
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (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
hu728FFF build 36 substitution variants (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)
F2RL1 R270Qinsufficiently evaluated not reviewed, f=0.015unknown

(7 web hits)

F2RL2 L15Sinsufficiently evaluated not reviewed, f=0.002unknown var-GS19025-1100-36-ASM
F2RL2 M177Vinsufficiently evaluated not reviewed, f=0.015unknown

(4 web hits)

CGI sample GS000006909
CGI sample GS00253-DNA_B01_200_37
F2RL2 I195Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS18558-1100-36-ASM
F2RL2 N250Dinsufficiently evaluated none, f=0.032unknown var-GS19735-1100-36-ASM
var-GS07357-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS19238-1100-36-ASM
F2RL2 N327Iinsufficiently evaluated not reviewed, f=0.008unknown var-GS18558-1100-36-ASM
F2RL3 M113Vinsufficiently evaluated not reviewed, f=0.001unknown
F2RL3 N117Sinsufficiently evaluated not reviewed, f=0.000unknown var-GS19834-1100-36-ASM
F2RL3 A120Tinsufficiently evaluated none, f=0.320unknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
CGI sample GS000006909
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19704-1100-36-ASM (hom)
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671
var-GS18508-1100-36-ASM
var-GS06985-1100-36-ASM
F2RL3 H229Rinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
F2RL3 V288Ainsufficiently evaluated not reviewedunknown
F2RL3 A294Dinsufficiently evaluated not reviewed, f=0.009unknown var-GS18942-1100-36-ASM
Page: 1 2 3 4
Total results: 34

Gene search

"GENE" or "GENE A123C":

Log in