GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
POLG2 G41Einsufficiently evaluated not reviewed, f=0.002unknown var-GS18501-1100-36-ASM
POLG2 G61Rinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
POLG2 L153Vinsufficiently evaluated not reviewed, f=0.000unknown

(1 web hit)

CGI sample GS00253-DNA_H01_200_37
POLG2 A169Tinsufficiently evaluated none, f=0.296unknown var-GS19025-1100-36-ASM
CGI sample GS01175-DNA_H01 from PGP sample 94797469
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM (hom)
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
var-GS18508-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
POLG2 G416Auncertain benign, f=0.012unknown

Rare but presumed benign. It was believed to be non-causal in a patient with a different mutation, and functional analysis found no difference from wild type.

(6 web hits)

PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS00253-DNA_G01_200_37
POLG2 G451Einsufficiently evaluated pathogenicunknown

(31 web hits)

Total results: 6

Gene search

"GENE" or "GENE A123C":

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