GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
OTC R26Qinsufficiently evaluated pathogenicunknown

(10 web hits)

OTC R40Cinsufficiently evaluated pathogenicunknown

(11 web hits)

OTC R40Hinsufficiently evaluated pathogenicunknown

(40 web hits)

OTC L45Pinsufficiently evaluated pathogenicunknown

(4 web hits)

OTC K46Rinsufficiently evaluated benign, f=0.294unknown

Other variants in this gene are thought to be causative for ornithine transcarbamylase deficiency, a rare X-linked metabolic disorder. However, Grompe et al. (1989) concluded that this is a polymorphism, and other groups in ClinVar have supported this finding.

(13 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM (hom)
hu3215A7 build 36 substitution variants (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
hu232307 build 36 substitution variants (hom)
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS10851-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM (hom)
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 GS01175-DNA_D05 from PGP sample 1205491 (hom)
var-GS20502-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
OTC G47Einsufficiently evaluated pathogenicunknown

(8 web hits)

OTC G50Xinsufficiently evaluated pathogenicunknown

(2 web hits)

OTC R62Tinsufficiently evaluated pathogenicunknown

(7 web hits)

OTC E87Kinsufficiently evaluated pathogenicunknown

(6 web hits)

OTC R109Qinsufficiently evaluated pathogenicunknown

(1 web hit)

OTC R109Xinsufficiently evaluated pathogenicunknown

(1 web hit)

OTC L111Pinsufficiently evaluated pathogenicunknown

(4 web hits)

OTC R129Hinsufficiently evaluated pathogenicunknown

(34 web hits)

OTC L148Finsufficiently evaluated pathogenicunknown

(1 web hit)

OTC E154Xinsufficiently evaluated pathogenicunknown

(1 web hit)

OTC G162Rinsufficiently evaluated pathogenicunknown
OTC M206Rinsufficiently evaluated pathogenicunknown

(8 web hits)

OTC Q216Einsufficiently evaluated pathogenicunknown

(1 web hit)

OTC P225Linsufficiently evaluated pathogenicunknown

(9 web hits)

OTC R245Winsufficiently evaluated pathogenicunknown

(1 web hit)

OTC Q270Rinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F06 from PGP sample 64191565
OTC L272Finsufficiently evaluated pathogenicunknown

(1 web hit)

OTC R277Winsufficiently evaluated pathogenicunknown

(18 web hits)

OTC Y313Dinsufficiently evaluated pathogenicunknown

(1 web hit)

Page: 1 2 3
Total results: 24

Gene search

"GENE" or "GENE A123C":

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