GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CLN5 R2Cinsufficiently evaluated none, f=0.104unknown

(1 web hit)

var-GS19025-1100-36-ASM
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18504-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_A01_200_37
var-GS19834-1100-36-ASM
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_B01_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS18947-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18517-1100-36-ASM
CLN5 P21Sinsufficiently evaluated not reviewed, f=0.002unknown
CLN5 W75Xinsufficiently evaluated pathogenicunknown

(3 web hits)

CLN5 R112Hinsufficiently evaluated pathogenicunknown
CLN5 G191Rinsufficiently evaluated not reviewed, f=0.008unknown var-GS18526-1100-36-ASM
CLN5 T194Iinsufficiently evaluated not reviewedunknown
CLN5 N242Kinsufficiently evaluated not reviewed, f=0.010unknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B01_200_37
CLN5 D279Ninsufficiently evaluated pathogenicunknown

(7 web hits)

CLN5 E352Xinsufficiently evaluated pathogenicunknown

(1 web hit)

CLN5 K368Rinsufficiently evaluated none, f=0.190unknown

(1 web hit)

var-GS19025-1100-36-ASM
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
var-GS19703-1100-36-ASM (hom)
var-GS19701-1100-36-ASM (hom)
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
CGI sample GS00253-DNA_B02_200_37
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS19669-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
Total results: 10

Gene search

"GENE" or "GENE A123C":

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