GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PPARG P12Auncertain not reviewed, f=0.089undefined

(1340 web hits)

CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18558-1100-36-ASM
CGI sample GS000006909
var-GS07357-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
hu728FFF build 36 substitution variants
var-GS06985-1100-36-ASM
PPARG P115Qinsufficiently evaluated pathogenicunknown

(31 web hits)

PPARG C190Sinsufficiently evaluated pathogenicunknown

(59 web hits)

PPARG R194Winsufficiently evaluated pathogenicunknown

(33 web hits)

PPARG I281Tinsufficiently evaluated not reviewedunknown
PPARG Q286Pinsufficiently evaluated pathogenicunknown

(18 web hits)

PPARG R288Hinsufficiently evaluated pathogenicunknown

(14 web hits)

PPARG V290Minsufficiently evaluated pathogenicunknown

(101 web hits)

PPARG I309Tinsufficiently evaluated not reviewedunknown
PPARG K319Xinsufficiently evaluated pathogenicunknown

(9 web hits)

PPARG V335Linsufficiently evaluated not reviewed, f=0.002unknown var-GS18505-1100-36-ASM
PPARG F388Linsufficiently evaluated pathogenicunknown

(237 web hits)

PPARG R425Cinsufficiently evaluated pathogenicunknown

(104 web hits)

PPARG H449Ninsufficiently evaluated noneunknown
PPARG H449Hinsufficiently evaluated pathogenicunknown

(58 web hits)

PPARG P467Linsufficiently evaluated pathogenicunknown

(159 web hits)

PPARG H477Ninsufficiently evaluated noneunknown
PPARG2 P12Ainsufficiently evaluated pathogenicunknown

(186 web hits)

PPARGC1A L410Iinsufficiently evaluated not reviewed, f=0.007unknown
PPARGC1A G482Dinsufficiently evaluated not reviewed, f=0.008unknown var-GS19834-1100-36-ASM
PPARGC1A G482Sinsufficiently evaluated none, f=0.263unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
hu34D5B9 exome
hu3215A7 build 36 substitution variants (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532 (hom)
hu232307 build 36 substitution variants
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS10851-1100-36-ASM
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19669-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
PPARGC1A T612Minsufficiently evaluated none, f=0.058unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS18942-1100-36-ASM
var-GS19020-1100-36-ASM
var-GS19735-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18526-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
PPARGC1B G31Rinsufficiently evaluated none, f=0.007unknown var-GS19025-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS19238-1100-36-ASM
PPARGC1B D101Einsufficiently evaluated not reviewedunknown
PPARGC1B A139Pinsufficiently evaluated not reviewedunknown
PPARGC1B A164Pinsufficiently evaluated not reviewedunknown
PPARGC1B R201Qinsufficiently evaluated not reviewedunknown
PPARGC1B A203Pinsufficiently evaluated none, f=0.110unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS19700-1100-36-ASM
var-GS07357-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19704-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS18526-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
PPARGC1B R226Qinsufficiently evaluated not reviewedunknown
PPARGC1B R265Qinsufficiently evaluated none, f=0.031unknown var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
PPARGC1B R266Winsufficiently evaluated not reviewedunknown
PPARGC1B V279Iinsufficiently evaluated none, f=0.064unknown

(9 web hits)

CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS07357-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18537-1100-36-ASM
var-GS18526-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01175-DNA_D03 from PGP sample 27486199
PPARGC1B R291Winsufficiently evaluated not reviewedunknown
PPARGC1B R292Sinsufficiently evaluated none, f=0.085unknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19700-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS07357-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS10851-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS20502-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18505-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
PPARGC1B S325Yinsufficiently evaluated not reviewedunknown
PPARGC1B R330Winsufficiently evaluated not reviewed, f=0.020unknown hu3215A7 build 36 substitution variants
var-GS19704-1100-36-ASM
PPARGC1B S350Yinsufficiently evaluated not reviewedunknown
PPARGC1B S389Yinsufficiently evaluated not reviewed, f=0.019unknown hu3215A7 build 36 substitution variants
var-GS19704-1100-36-ASM
PPARGC1B P475Hinsufficiently evaluated not reviewed, f=0.002unknown CGI sample GS000006909
PPARGC1B E528Kinsufficiently evaluated not reviewed, f=0.001unknown var-GS18501-1100-36-ASM
PPARGC1B V703Finsufficiently evaluated not reviewed, f=0.008unknown var-GS19239-1100-36-ASM
PPARGC1B P714Linsufficiently evaluated none, f=0.012unknown var-GS19025-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS18508-1100-36-ASM
PPARGC1B T753Minsufficiently evaluated not reviewed, f=0.000unknown var-GS21767-1100-36-ASM
PPARGC1B E812EEEinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B04 from PGP sample 88590671
PPARGC1B R893Qinsufficiently evaluated not reviewed, f=0.000unknown var-GS18947-1100-36-ASM
PPARGC1B E923Ginsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
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Total results: 46

Gene search

"GENE" or "GENE A123C":

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