GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SLC2A1 T60Minsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
SLC2A1 G91Dinsufficiently evaluated pathogenicunknown

(7 web hits)

SLC2A1 R126Hinsufficiently evaluated pathogenicunknown

(25 web hits)

SLC2A1 R126Linsufficiently evaluated pathogenicunknown

(19 web hits)

SLC2A1 Y132Hinsufficiently evaluated not reviewedunknown
SLC2A1 D236Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
SLC2A1 K256Vinsufficiently evaluated pathogenicunknown

(13 web hits)

SLC2A1 A275Tinsufficiently evaluated pathogenicunknown

(5 web hits)

SLC2A1 Q304Hinsufficiently evaluated noneunknown
SLC2A1 G314Sinsufficiently evaluated pathogenicunknown

(6 web hits)

SLC2A1 Y449Xinsufficiently evaluated pathogenicunknown

(3 web hits)

SLC2A1 K456Xinsufficiently evaluated pathogenicunknown

(1 web hit)

SLC2A10 A58Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS19648-1100-36-ASM
SLC2A10 S81Rinsufficiently evaluated pathogenicunknown

(1 web hit)

SLC2A10 A106Sinsufficiently evaluated none, f=0.009unknown var-GS19129-1100-36-ASM
SLC2A10 R132Winsufficiently evaluated pathogenicunknown
SLC2A10 W170Xinsufficiently evaluated pathogenicunknown

(1 web hit)

SLC2A10 P200Rinsufficiently evaluated noneunknown
SLC2A10 A206Tinsufficiently evaluated none, f=0.120unknown

(1 web hit)

var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM
var-GS19735-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS18502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19238-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
var-GS18517-1100-36-ASM
SLC2A10 A385Ginsufficiently evaluated not reviewed, f=0.017unknown var-GS19704-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
SLC2A10 G426Winsufficiently evaluated pathogenicunknown
SLC2A10 K514Rinsufficiently evaluated not reviewed, f=0.066unknown var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS18502-1100-36-ASM
SLC2A10 T518Ainsufficiently evaluated none, f=0.028unknown

(8 web hits)

CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS19703-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
SLC2A10 I537Vinsufficiently evaluated not reviewed, f=0.022unknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS19703-1100-36-ASM
SLC2A11 R10Winsufficiently evaluated noneunknown
SLC2A11 V131Minsufficiently evaluated not reviewedunknown
SLC2A11 V134Minsufficiently evaluated not reviewedunknown
SLC2A11 V138Minsufficiently evaluated not reviewedunknown
SLC2A11 R232Qinsufficiently evaluated noneunknown
SLC2A11 R234Winsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B02 from PGP sample 94378523
SLC2A11 R235Qinsufficiently evaluated none, f=0.284unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
var-GS18558-1100-36-ASM (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
CGI sample GS000005532
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37
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-GS18947-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM
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
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
SLC2A11 R239Qinsufficiently evaluated noneunknown
SLC2A11 R301Qinsufficiently evaluated noneunknown
SLC2A11 R304Qinsufficiently evaluated none, f=0.012unknown var-GS19025-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19026-1100-36-ASM
SLC2A11 R308Qinsufficiently evaluated noneunknown
SLC2A11 I420Finsufficiently evaluated noneunknown

(2 web hits)

SLC2A11 I423Finsufficiently evaluated none, f=0.016unknown

(2 web hits)

var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS18508-1100-36-ASM
SLC2A11 I427Finsufficiently evaluated noneunknown

(2 web hits)

SLC2A11 A449Tinsufficiently evaluated noneunknown
SLC2A11 A452Tinsufficiently evaluated none, f=0.036unknown var-GS19703-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM
SLC2A11 A456Tinsufficiently evaluated noneunknown
SLC2A11 K469Einsufficiently evaluated noneunknown

(2 web hits)

SLC2A11 K472Einsufficiently evaluated none, f=0.026unknown

(2 web hits)

var-GS19025-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS18508-1100-36-ASM
SLC2A11 K476Einsufficiently evaluated noneunknown

(2 web hits)

SLC2A12 R103Ginsufficiently evaluated not reviewed, f=0.013unknown var-GS18505-1100-36-ASM
SLC2A12 G105Ainsufficiently evaluated not reviewed, f=0.008unknown var-GS19834-1100-36-ASM
SLC2A13 S6Ninsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
SLC2A13 Y232Cinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
SLC2A13 L233Pinsufficiently evaluated not reviewedunknown
SLC2A13 V361Ainsufficiently evaluated not reviewed, f=0.008unknown var-GS19025-1100-36-ASM
SLC2A13 T383Iinsufficiently evaluated not reviewed, f=0.008unknown
SLC2A13 T402Iinsufficiently evaluated not reviewed, f=0.001unknown CGI sample GS00253-DNA_F01_200_37
SLC2A13 A415Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS18940-1100-36-ASM
SLC2A14 L107Pinsufficiently evaluated not reviewedunknown
SLC2A14 A126Vinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D05 from PGP sample 1205491
SLC2A14 G179Sinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_F01_200_37
SLC2A14 Y449Hinsufficiently evaluated none, f=0.014unknown var-GS19703-1100-36-ASM
var-GS19238-1100-36-ASM
SLC2A14 G506Einsufficiently evaluated none, f=0.222unknown

(1 web hit)

CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
CGI sample GS000005532
var-GS19703-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS00253-DNA_B01_200_37
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
var-GS18526-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
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Total results: 58

Gene search

"GENE" or "GENE A123C":

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