GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CEP290 W7Cinsufficiently evaluated pathogenicunknown

(11 web hits)

CEP290 R205Xinsufficiently evaluated pathogenicunknown

(8 web hits)

CEP290 E277Qinsufficiently evaluated not reviewed, f=0.014unknown var-GS19017-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CEP290 D664Guncertain benign, f=0.009unknown

Reported as a non-pathogenic polymorphism, appears to be more common in East Asians.

(1 web hit)

var-GS18942-1100-36-ASM
var-GS18558-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_B04 from PGP sample 88590671
var-GS18940-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
CEP290 L750Xinsufficiently evaluated pathogenicunknown

(2 web hits)

CEP290 K838Einsufficiently evaluated none, f=0.032unknown

(2 web hits)

var-GS18942-1100-36-ASM
var-GS18558-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_B04 from PGP sample 88590671
var-GS18940-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
CEP290 L906Winsufficiently evaluated not reviewed, f=0.038unknown var-GS18501-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM
CEP290 D983Shiftpathogenicrecessive

Although there are no known reports for this variant, this is predicted to be very disruptive in a gene associated with recessive ciliopathy disorders (mostly Joubert Syndrome and/or Leber’s Congenital Amaurosis). This variant would be predicted to have a similarly severe recessive pathogenic effect.

CGI sample GS000005532
CEP290 A1129Pinsufficiently evaluated noneunknown
CEP290 Q1136Hinsufficiently evaluated noneunknown
CEP290 R1237Hinsufficiently evaluated not reviewed, f=0.052unknown hu3215A7 build 36 substitution variants
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM
var-GS19026-1100-36-ASM
CEP290 D1413Hinsufficiently evaluated not reviewedunknown
CEP290 K1575Xinsufficiently evaluated pathogenicunknown

(2 web hits)

CEP290 R1746Qinsufficiently evaluated none, f=0.008unknown
CEP290 R1752Qinsufficiently evaluated not reviewed, f=0.002unknown var-GS19129-1100-36-ASM
CEP290 I1836Vinsufficiently evaluated not reviewed, f=0.004unknown var-GS19025-1100-36-ASM
var-GS19017-1100-36-ASM
CEP290 G1890Xinsufficiently evaluated pathogenic, f=0.000unknown

(11 web hits)

CEP290 E1903Xinsufficiently evaluated pathogenicunknown

(1 web hit)

CEP290 I2202Shiftinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_B01_200_37
CEP290 R2210Cinsufficiently evaluated not reviewed, f=0.000unknown var-GS10851-1100-36-ASM
CEP290 I2269Tinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
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Total results: 21

Gene search

"GENE" or "GENE A123C":

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