GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
GUCY2D W21Rinsufficiently evaluated benign, f=0.043unknown

(17 web hits)

CGI sample GS01173-DNA_B02 from PGP sample 94378523
GUCY2D A52Suncertain benign, f=0.210recessive

One publication suggested that this variant possibly causes Leber’s congenital amaurosis in a recessive manner, but the frequency data (36% in 1000 genomes) contradicts any significant pathogenic effect.

(15 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
hu232307 build 36 substitution variants
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
GUCY2D G439Rinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
GUCY2D A479Vinsufficiently evaluated not reviewedunknown hu232307 build 36 substitution variants
GUCY2D F565Sinsufficiently evaluated pathogenicunknown

(6 web hits)

GUCY2D P575Linsufficiently evaluated none, f=0.016unknown

(73 web hits)

var-GS18517-1100-36-ASM
GUCY2D P701Sinsufficiently evaluated pathogenic, f=0.025recessive

Although other variants in this gene have been implicated in causing Leber Congenital Amaurosis, Vallespin et al. observe that this variant has a frequency in control population is not significantly different from that in patients. They conclude that this is likely a benign polymorphism and not disease-causing, but it’s possible it has a modifier effect that increases susceptibility to the disease.

(25 web hits)

CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS18558-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS19704-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
var-GS18526-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS18940-1100-36-ASM
var-GS18517-1100-36-ASM
GUCY2D L782Hinsufficiently evaluated not reviewed, f=0.216unknown

(14 web hits)

var-GS19025-1100-36-ASM
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu3215A7 build 36 substitution variants
var-GS19020-1100-36-ASM (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
CGI sample GS000006909
var-GS19703-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS06985-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
GUCY2D R838Cinsufficiently evaluated pathogenicunknown

(87 web hits)

GUCY2D R838Hinsufficiently evaluated pathogenicunknown

(46 web hits)

GUCY2D Q1084Rinsufficiently evaluated not reviewed, f=0.008unknown var-GS19026-1100-36-ASM
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Total results: 11

Gene search

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