GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
DCLRE1C M1Tinsufficiently evaluated pathogenicunknown

(3 web hits)

DCLRE1C H35Dinsufficiently evaluated pathogenicunknown

(1 web hit)

DCLRE1C P51Rinsufficiently evaluated noneunknown

(1 web hit)

DCLRE1C P56Rinsufficiently evaluated noneunknown

(1 web hit)

DCLRE1C R74Xinsufficiently evaluated pathogenicunknown

(5 web hits)

DCLRE1C H123Rinsufficiently evaluated noneunknown

(1 web hit)

DCLRE1C H128Rinsufficiently evaluated noneunknown

(1 web hit)

DCLRE1C G153Rinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_D02 from PGP sample 27316983
DCLRE1C P171Rinsufficiently evaluated none, f=0.093unknown

(7 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372
hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS19700-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
var-GS07357-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
DCLRE1C Y192Xinsufficiently evaluated pathogenicunknown

(2 web hits)

DCLRE1C L209Minsufficiently evaluated noneunknown
DCLRE1C L214Minsufficiently evaluated noneunknown
DCLRE1C H243Rinsufficiently evaluated none, f=0.143unknown

(1 web hit)

CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS19700-1100-36-ASM
CGI sample GS000006909
var-GS07357-1100-36-ASM
hu232307 build 36 substitution variants
var-GS19701-1100-36-ASM
var-GS19704-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS18505-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS19026-1100-36-ASM
DCLRE1C K308Ninsufficiently evaluated not reviewedunknown
DCLRE1C K313Ninsufficiently evaluated not reviewedunknown
DCLRE1C A318Sinsufficiently evaluated not reviewedunknown
DCLRE1C S320Cinsufficiently evaluated not reviewed, f=0.013unknown var-GS18501-1100-36-ASM
var-GS18508-1100-36-ASM
DCLRE1C A323Sinsufficiently evaluated not reviewedunknown
DCLRE1C L329Minsufficiently evaluated none, f=0.001unknown CGI sample GS000006909
DCLRE1C K428Ninsufficiently evaluated not reviewed, f=0.004unknown
DCLRE1C A438Sinsufficiently evaluated not reviewedunknown
Page: 1 2 3
Total results: 21

Gene search

"GENE" or "GENE A123C":

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