GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
GDF5 P166Hinsufficiently evaluated none, f=0.034unknown var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
var-GS19240-1100-36-ASM
var-GS18517-1100-36-ASM
GDF5 M173Vinsufficiently evaluated pathogenicunknown

(2 web hits)

GDF5 S276Ainsufficiently evaluated none, f=0.359unknown

(9 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372 (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
hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532
var-GS19703-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
GDF5 R301Xinsufficiently evaluated pathogenicunknown

(2 web hits)

GDF5 L373Rinsufficiently evaluated pathogenicunknown

(9 web hits)

GDF5 Q376Hinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_C01_200_37
GDF5 R378Qinsufficiently evaluated pathogenicunknown

(1 web hit)

GDF5 G389Vinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_D02 from PGP sample 27316983
GDF5 C400Yinsufficiently evaluated pathogenicunknown

(11 web hits)

GDF5 P436Tinsufficiently evaluated pathogenicunknown

(1 web hit)

GDF5 R438Linsufficiently evaluated pathogenicunknown

(100 web hits)

GDF5 L441Pinsufficiently evaluated pathogenicunknown

(67 web hits)

GDF5 S475Ninsufficiently evaluated pathogenicunknown

(5 web hits)

GDF5 Y487Xinsufficiently evaluated pathogenicunknown

(10 web hits)

GDF5 E491Kinsufficiently evaluated pathogenicunknown

(7 web hits)

GDF5OS A153Dinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_D02 from PGP sample 27316983
GDF5OS L166Minsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_C01_200_37
GDF5OS L203Finsufficiently evaluated not reviewed, f=0.104unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_F02 from PGP sample 40767107
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS18555-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS06985-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
Page: 1 2
Total results: 18

Gene search

"GENE" or "GENE A123C":

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