GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SGSH S66Winsufficiently evaluated pathogenicunknown

(22 web hits)

SGSH R74Cinsufficiently evaluated pathogenicunknown

(15 web hits)

SGSH F101Sinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D01 from PGP sample 31286272
SGSH D102Shiftinsufficiently evaluated not reviewed, f=0.016unknown var-GS18501-1100-36-ASM
var-GS18956-1100-36-ASM
SGSH P128Linsufficiently evaluated pathogenicunknown

(3 web hits)

SGSH R150Qinsufficiently evaluated pathogenicunknown

(3 web hits)

SGSH R206Pinsufficiently evaluated pathogenicunknown

(13 web hits)

SGSH A214Dinsufficiently evaluated none, f=0.001unknown
SGSH A234Ginsufficiently evaluated not reviewed, f=0.003unknown var-GS19025-1100-36-ASM
SGSH R245Hinsufficiently evaluated pathogenic, f=0.001unknown

(17 web hits)

SGSH G251Ainsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B07 from PGP sample 61499538
SGSH T290Linsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
SGSH S309Ninsufficiently evaluated not reviewed, f=0.008unknown var-GS19025-1100-36-ASM
SGSH L357Finsufficiently evaluated noneunknown
SGSH V361Iinsufficiently evaluated none, f=0.081unknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
CGI sample GS000005532
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18517-1100-36-ASM
SGSH E369Kinsufficiently evaluated pathogenicunknown

(3 web hits)

SGSH M372Iinsufficiently evaluated none, f=0.024unknown var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18505-1100-36-ASM
SGSH V387Minsufficiently evaluated not reviewed, f=0.007unknown var-GS19648-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
SGSH M394Iinsufficiently evaluated not reviewed, f=0.016unknown var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18505-1100-36-ASM
SGSH R433Qinsufficiently evaluated pathogenicunknown

(3 web hits)

SGSH A434Vinsufficiently evaluated none, f=0.008unknown var-GS18555-1100-36-ASM
SGSH R441Qinsufficiently evaluated not reviewed, f=0.000unknown

(1 web hit)

CGI sample GS00253-DNA_A02_200_37
SGSH E447Kinsufficiently evaluated pathogenicunknown

(8 web hits)

SGSH R456Hinsufficiently evaluated none, f=0.293unknown

(7 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
var-GS19025-1100-36-ASM
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
var-GS19020-1100-36-ASM (hom)
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
hu232307 build 36 substitution variants
var-GS19701-1100-36-ASM
var-GS19704-1100-36-ASM (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS19670-1100-36-ASM
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 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
SGSH Q494Rinsufficiently evaluated not reviewed, f=0.008unknown var-GS19026-1100-36-ASM
Page: 1 2 3
Total results: 25

Gene search

"GENE" or "GENE A123C":

Log in