GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
G6PC D38Vinsufficiently evaluated pathogenicunknown

(11 web hits)

G6PC W77Rinsufficiently evaluated pathogenicunknown

(14 web hits)

G6PC R83Cinsufficiently evaluated pathogenic, f=0.000recessive

Reported to cause Glycogen Storage Disease Type 1A in a recessive manner

(73 web hits)

CGI sample GS01175-DNA_D01 from PGP sample 31286272
G6PC R83Hinsufficiently evaluated not reviewedunknown

(20 web hits)

G6PC E110Kinsufficiently evaluated pathogenicunknown

(7 web hits)

G6PC A124Tinsufficiently evaluated pathogenicunknown

(5 web hits)

G6PC V166Ginsufficiently evaluated pathogenicunknown

(17 web hits)

G6PC G184Einsufficiently evaluated pathogenicunknown

(8 web hits)

G6PC G188Rinsufficiently evaluated pathogenic, f=0.000unknown

(22 web hits)

G6PC Q242Xinsufficiently evaluated not reviewedunknown
G6PC G270Vinsufficiently evaluated not reviewedunknown

(2 web hits)

G6PC R295Cinsufficiently evaluated pathogenicunknown

(13 web hits)

G6PC Q347Xinsufficiently evaluated pathogenic, f=0.001unknown

(23 web hits)

G6PC2 Y207Sinsufficiently evaluated none, f=0.006unknown CGI sample GS000005532
G6PC2 L208Vinsufficiently evaluated not reviewedunknown
G6PC2 V219Linsufficiently evaluated none, f=0.411unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM
hu3215A7 build 36 substitution variants (hom)
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
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM (hom)
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000005532
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS19701-1100-36-ASM (hom)
var-GS19704-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants (hom)
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18940-1100-36-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
G6PC2 I273Vinsufficiently evaluated not reviewed, f=0.001unknown var-GS18508-1100-36-ASM
G6PC2 R283Xinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D05 from PGP sample 1205491
G6PC2 L301Sinsufficiently evaluated not reviewed, f=0.000unknown var-GS18502-1100-36-ASM
G6PC2 S324Pinsufficiently evaluated none, f=0.002unknown

(8 web hits)

G6PC2 S342Cinsufficiently evaluated none, f=0.231unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
var-GS19025-1100-36-ASM
hu3215A7 build 36 substitution variants
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
CGI sample GS000005532
var-GS19703-1100-36-ASM (hom)
var-GS12004-1100-36-ASM
var-GS19701-1100-36-ASM (hom)
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-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS18517-1100-36-ASM
G6PC3 Y47Xinsufficiently evaluated pathogenicunknown
G6PC3 L185Pinsufficiently evaluated pathogenicunknown
G6PC3 T216Iinsufficiently evaluated none, f=0.015unknown var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18505-1100-36-ASM
G6PC3 R253Hinsufficiently evaluated pathogenicunknown
G6PC3 G262Rinsufficiently evaluated pathogenicunknown
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Total results: 26

Gene search

"GENE" or "GENE A123C":

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