GET-Evidence: Search

VariantImpactInheritance patternSummaryGenomes
POLG R3Pinsufficiently evaluated pathogenicunknown

(14 web hits)

POLG R42Qinsufficiently evaluated noneunknown

(6 web hits)

POLG Q43Rinsufficiently evaluated none, f=0.007unknown

(4 web hits)

POLG R227Winsufficiently evaluated pathogenicunknown

(5 web hits)

POLG T251Iinsufficiently evaluated pathogenic, f=0.002unknown

(44 web hits)

POLG L304Rinsufficiently evaluated pathogenicunknown

(25 web hits)

POLG A467Tinsufficiently evaluated pathogenic, f=0.001unknown

(530 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
POLG N468Dinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
POLG Q497Hinsufficiently evaluated pathogenicunknown

(27 web hits)

POLG S511Ninsufficiently evaluated pathogenicunknown

(5 web hits)

POLG G517Vinsufficiently evaluated pathogenic, f=0.005other

This variant has been associated with POLG-related neuropathy/ataxia, but recent reports contradict the originally published hypothesis of dominant pathogenic effect. It has been seen heterozygously in healthy relatives of affected individiuals; it may be a modifier gene or act in a recessive manner, or it may be a benign polymorphism.

(18 web hits)

POLG P587Linsufficiently evaluated pathogenic, f=0.002unknown

(50 web hits)

POLG R597Qinsufficiently evaluated not reviewedunknown hu232307 build 36 substitution variants
POLG R627Winsufficiently evaluated pathogenicunknown

(28 web hits)

POLG G737Rpathogenic, f=0.002recessive

Reported in a single case of two sisters with early-onset parkinsonianism. Hypothesized to cause their disease in a recessive manner, but no statistical significance.

(15 web hits)

POLG W748Sinsufficiently evaluated pathogenic, f=0.000unknown

(526 web hits)

POLG Y831Cuncertain benign, f=0.008unknown

A rare polymorphism in POLG, probably benign. A small study of a nuclear family hypothesized it was causing Parkinson disease, but a later study found no significant difference in incidence between cases (1/140) and controls (5/127).

(33 web hits)

CGI sample GS00253-DNA_E01_200_37
POLG G848Sinsufficiently evaluated pathogenic, f=0.000unknown

(128 web hits)

POLG R853Winsufficiently evaluated pathogenicunknown

(19 web hits)

POLG N864Sinsufficiently evaluated pathogenicunknown

(8 web hits)

POLG E873Xinsufficiently evaluated pathogenicunknown

(13 web hits)

POLG G923Rinsufficiently evaluated noneunknown

(1 web hit)

POLG H932Yinsufficiently evaluated pathogenicunknown

(3 web hits)

POLG Y955Cinsufficiently evaluated pathogenicunknown

(243 web hits)

POLG A957Sinsufficiently evaluated pathogenicunknown

(31 web hits)

POLG W1020Xinsufficiently evaluated pathogenicunknown

(10 web hits)

POLG G1051Rinsufficiently evaluated pathogenicunknown

(4 web hits)

POLG F1092Linsufficiently evaluated noneunknown
POLG E1143Ginsufficiently evaluated not reviewed, f=0.028unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
PGP13 (hu3A8D13) build 37, from CGI var (software ver
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01175-DNA_D03 from PGP sample 27486199
POLG Q1236Huncertain pathogenic, f=0.058other

Generally a nonpathogenic polymorphism, but may have a modifier effect that increases severity when combined in cis with other pathogenic variants.

(35 web hits)

CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS00253-DNA_D01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
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-GS19700-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
hu232307 build 36 substitution variants
CGI sample GS00253-DNA_G01_200_37
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
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-GS18505-1100-36-ASM (hom)
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-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
CGI sample GS00253-DNA_G01_200_37
POLG2 G451Einsufficiently evaluated pathogenicunknown

(31 web hits)

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Total results: 36

Gene search

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