GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
GGCX S7Shiftinsufficiently evaluated not reviewedunknown CGI sample GS000006909
GGCX V255Minsufficiently evaluated pathogenicunknown

(12 web hits)

GGCX R268Qinsufficiently evaluated noneunknown

(7 web hits)

hu728FFF build 36 substitution variants
GGCX F299Sinsufficiently evaluated pathogenicunknown

(2 web hits)

GGCX S300Finsufficiently evaluated pathogenicunknown

(3 web hits)

GGCX R325Qinsufficiently evaluated none, f=0.420unknown

(34 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM (hom)
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants
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
var-GS21767-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426
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
var-GS19026-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
GGCX T367Iinsufficiently evaluated not reviewed, f=0.008unknown var-GS19026-1100-36-ASM
GGCX Q374Xinsufficiently evaluated pathogenicunknown

(9 web hits)

GGCX L394Rinsufficiently evaluated pathogenicunknown

(26 web hits)

GGCX R476Cinsufficiently evaluated pathogenicunknown

(1 web hit)

GGCX R476Hinsufficiently evaluated pathogenicunknown

(1 web hit)

GGCX R485Pinsufficiently evaluated pathogenicunknown
GGCX W493Sinsufficiently evaluated pathogenicunknown

(2 web hits)

GGCX W501Sinsufficiently evaluated pathogenicunknown

(20 web hits)

GGCX G537Yinsufficiently evaluated pathogenicunknown

(1 web hit)

GGCX V545Iinsufficiently evaluated not reviewedunknown
GGCX G558Rinsufficiently evaluated pathogenicunknown
GGCX P579Tinsufficiently evaluated not reviewedunknown
GGCX V602Iinsufficiently evaluated not reviewed, f=0.000unknown
GGCX P636Tinsufficiently evaluated not reviewed, f=0.001unknown CGI sample GS00253-DNA_D01_200_37
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Total results: 20

Gene search

"GENE" or "GENE A123C":

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