GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
AGL Q6Xinsufficiently evaluated pathogenicrecessive

This variant is associated with Glycogen Storage Disease Type III

(424 web hits)

AGL I7Sinsufficiently evaluated not reviewedunknown

(1160 web hits)

AGL T21Ainsufficiently evaluated noneunknown

(13 web hits)

AGL T22Ainsufficiently evaluated noneunknown

(14 web hits)

AGL T38Ainsufficiently evaluated none, f=0.019unknown

(13 web hits)

var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18517-1100-36-ASM
AGL Q212Rinsufficiently evaluated not reviewedunknown

(2 web hits)

AGL Q213Rinsufficiently evaluated not reviewedunknown

(1 web hit)

AGL Q229Rinsufficiently evaluated not reviewed, f=0.042unknown

(3 web hits)

var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
var-GS19026-1100-36-ASM
AGL K368Ninsufficiently evaluated not reviewedunknown
AGL K369Ninsufficiently evaluated not reviewedunknown
AGL K385Ninsufficiently evaluated not reviewed, f=0.011unknown

(2 web hits)

var-GS21767-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
AGL R387Qinsufficiently evaluated not reviewed, f=0.003unknown var-GS19735-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
AGL R408Xinsufficiently evaluated pathogenicunknown

(13 web hits)

AGL W680Xinsufficiently evaluated pathogenicunknown

(1 web hit)

AGL S824Finsufficiently evaluated not reviewedunknown
AGL S825Finsufficiently evaluated not reviewedunknown
AGL S834Ginsufficiently evaluated not reviewedunknown

(1 web hit)

AGL S835Ginsufficiently evaluated not reviewedunknown
AGL S841Finsufficiently evaluated not reviewed, f=0.003unknown var-GS21767-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
AGL S851Ginsufficiently evaluated not reviewedunknown
AGL L895Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS18502-1100-36-ASM
AGL S962Cinsufficiently evaluated not reviewed, f=0.018unknown var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS18502-1100-36-ASM
AGL P1050Sinsufficiently evaluated noneunknown

(5 web hits)

AGL P1051Sinsufficiently evaluated noneunknown

(5 web hits)

AGL P1067Sinsufficiently evaluated none, f=0.140unknown

(6 web hits)

CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS000005532
hu232307 build 36 substitution variants
var-GS10851-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS06985-1100-36-ASM
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
AGL G1098Rinsufficiently evaluated noneunknown

(1 web hit)

AGL G1099Rinsufficiently evaluated noneunknown

(1 web hit)

AGL G1115Rinsufficiently evaluated none, f=0.041unknown

(12 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS18942-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS18526-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM
AGL Q1162Hinsufficiently evaluated not reviewed, f=0.008unknown var-GS18537-1100-36-ASM
AGL A1190Tinsufficiently evaluated noneunknown
AGL A1191Tinsufficiently evaluated noneunknown
AGL A1207Tinsufficiently evaluated none, f=0.011unknown var-GS19025-1100-36-ASM
var-GS18517-1100-36-ASM
AGL F1306Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS12004-1100-36-ASM
AGL E1326Kinsufficiently evaluated not reviewedunknown
AGL E1327Kinsufficiently evaluated not reviewedunknown
AGL E1343Kinsufficiently evaluated not reviewed, f=0.000unknown
AGL R1378Ginsufficiently evaluated not reviewed, f=0.008unknown var-GS19025-1100-36-ASM
AGL G1448Rinsufficiently evaluated pathogenicunknown

(57 web hits)

AGL V1467Iinsufficiently evaluated noneunknown
AGL V1468Iinsufficiently evaluated noneunknown
AGL T1477Sinsufficiently evaluated not reviewed, f=0.006unknown var-GS18501-1100-36-ASM
AGL V1484Iinsufficiently evaluated none, f=0.000unknown var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19240-1100-36-ASM
Page: 1 2 3 4 5
Total results: 42

Gene search

"GENE" or "GENE A123C":

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