GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
GYS2 N39Sinsufficiently evaluated pathogenicunknown
GYS2 C81Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS06985-1100-36-ASM
GYS2 A193Tinsufficiently evaluated not reviewed, f=0.005unknown CGI sample GS00253-DNA_B02_200_37
GYS2 R246Xinsufficiently evaluated pathogenicunknown

(2 web hits)

GYS2 A339Pinsufficiently evaluated pathogenicunknown
GYS2 M363Vinsufficiently evaluated none, f=0.739unknown

(3 web hits)

CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS18942-1100-36-ASM (hom)
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
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37 (hom)
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 (hom)
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 (hom)
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671
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 (hom)
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
GYS2 R386Qinsufficiently evaluated noneunknown
GYS2 D415Einsufficiently evaluated none, f=0.022unknown

(1 web hit)

var-GS18504-1100-36-ASM
var-GS18517-1100-36-ASM
GYS2 H446Dinsufficiently evaluated pathogenicunknown
GYS2 P479Qinsufficiently evaluated pathogenic, f=0.000unknown
GYS2 S483Pinsufficiently evaluated pathogenicunknown
GYS2 M491Rinsufficiently evaluated pathogenicunknown
GYS2 T546Ainsufficiently evaluated none, f=0.014unknown

(2 web hits)

var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
GYS2 Q655Hinsufficiently evaluated not reviewed, f=0.023unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19648-1100-36-ASM
CGI sample GS01175-DNA_B04 from PGP sample 88590671
GYS2 D669Ninsufficiently evaluated not reviewed, f=0.001unknown var-GS12004-1100-36-ASM
GYS2 R678Qinsufficiently evaluated not reviewed, f=0.008unknown var-GS18502-1100-36-ASM
GYS2 F685Sinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
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Total results: 17

Gene search

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