GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SLC2A2 D4Hinsufficiently evaluated not reviewed, f=0.008unknown var-GS19670-1100-36-ASM
SLC2A2 R53Qinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
SLC2A2 P68Linsufficiently evaluated not reviewed, f=0.003unknown hu232307 build 36 substitution variants
SLC2A2 T110Iinsufficiently evaluated none, f=0.240unknown

(33 web hits)

var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
hu3215A7 build 36 substitution variants
var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19703-1100-36-ASM
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
var-GS19704-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS20502-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18517-1100-36-ASM
SLC2A2 I154Linsufficiently evaluated noneunknown
SLC2A2 V197Iinsufficiently evaluated pathogenic, f=0.000unknown

(5 web hits)

SLC2A2 Q287Xinsufficiently evaluated pathogenicunknown
SLC2A2 R301Xinsufficiently evaluated pathogenicunknown

(2 web hits)

SLC2A2 R365Xinsufficiently evaluated pathogenicunknown

(1 web hit)

SLC2A2 L389Pinsufficiently evaluated pathogenicunknown

(3 web hits)

SLC2A2 P417Linsufficiently evaluated pathogenicunknown

(1 web hit)

SLC2A2 W420Xinsufficiently evaluated pathogenicunknown
SLC2A2 V423Einsufficiently evaluated pathogenicunknown

(1 web hit)

SLC2A2 R432Hinsufficiently evaluated none, f=0.000unknown var-GS19129-1100-36-ASM
SLC2A2 G519Einsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B01 from PGP sample 86206034
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Total results: 15

Gene search

"GENE" or "GENE A123C":

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