GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
GHR W4Rinsufficiently evaluated noneunknown

(502 web hits)

GHR W16Xinsufficiently evaluated pathogenicunknown

(19 web hits)

GHR C38Xinsufficiently evaluated pathogenicunknown

(19 web hits)

GHR R43Xinsufficiently evaluated pathogenicunknown

(35 web hits)

GHR E44Kinsufficiently evaluated pathogenicunknown

(9 web hits)

GHR G80Vinsufficiently evaluated not reviewed, f=0.001unknown var-GS18501-1100-36-ASM
GHR C83Xinsufficiently evaluated pathogenicunknown

(23 web hits)

GHR C94Sinsufficiently evaluated pathogenicunknown

(22 web hits)

GHR F96Sinsufficiently evaluated pathogenicunknown

(8 web hits)

GHR P131Qinsufficiently evaluated pathogenicunknown

(16 web hits)

GHR V144Iinsufficiently evaluated pathogenicunknown

(11 web hits)

GHR H150Qinsufficiently evaluated pathogenicunknown

(15 web hits)

GHR D152Hinsufficiently evaluated pathogenicunknown

(82 web hits)

GHR I153Tinsufficiently evaluated pathogenicunknown

(20 web hits)

GHR Q154Pinsufficiently evaluated pathogenicunknown

(11 web hits)

GHR V155Ginsufficiently evaluated pathogenicunknown

(13 web hits)

GHR R161Cinsufficiently evaluated pathogenicunknown

(16 web hits)

GHR V162Iinsufficiently evaluated not reviewed, f=0.003unknown var-GS19020-1100-36-ASM
var-GS19017-1100-36-ASM
GHR R179Cinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D05 from PGP sample 1205491
GHR R217Xinsufficiently evaluated pathogenicunknown

(26 web hits)

GHR E224Dinsufficiently evaluated pathogenicunknown

(4 web hits)

GHR E224Xinsufficiently evaluated pathogenicunknown

(6 web hits)

GHR C440Finsufficiently evaluated none, f=0.007unknown

(2 web hits)

var-GS18558-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS18940-1100-36-ASM
GHR P458PQPinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F06 from PGP sample 64191565
GHR P495Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS18526-1100-36-ASM
GHR L526Iinsufficiently evaluated pathogenicunknown

(16 web hits)

GHR I544Linsufficiently evaluated none, f=0.435unknown

(1 web hit)

CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM
hu34D5B9 exome
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS18942-1100-36-ASM
var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37 (hom)
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18956-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
GHR P579Tinsufficiently evaluated none, f=0.007unknown

(2 web hits)

var-GS18558-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS18940-1100-36-ASM
GHRH I36Linsufficiently evaluated not reviewed, f=0.001unknown var-GS19025-1100-36-ASM
GHRH L75Finsufficiently evaluated not reviewed, f=0.037unknown hu232307 build 36 substitution variants
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS21767-1100-36-ASM
var-GS18505-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
var-GS18508-1100-36-ASM
GHRHR T6Iinsufficiently evaluated not reviewed, f=0.051unknown hu3215A7 build 36 substitution variants
var-GS19704-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
hu728FFF build 36 substitution variants
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS18508-1100-36-ASM
GHRHR A57Tinsufficiently evaluated none, f=0.130unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM
var-GS19020-1100-36-ASM (hom)
var-GS19700-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS000005532
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM (hom)
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
var-GS18517-1100-36-ASM
GHRHR E72Xinsufficiently evaluated pathogenicunknown
GHRHR E121Dinsufficiently evaluated none, f=0.084unknown var-GS19020-1100-36-ASM (hom)
var-GS19700-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS000005532
hu232307 build 36 substitution variants
var-GS21767-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
var-GS18505-1100-36-ASM
GHRHR L144Hinsufficiently evaluated pathogenicunknown
GHRHR A222Einsufficiently evaluated pathogenicunknown
GHRHR V225Iinsufficiently evaluated not reviewed, f=0.000unknown var-GS18942-1100-36-ASM
GHRHR F242Cinsufficiently evaluated pathogenicunknown
GHRHR K329Einsufficiently evaluated pathogenicunknown
GHRHR M422Tinsufficiently evaluated none, f=0.015unknown

(12 web hits)

var-GS19129-1100-36-ASM
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B07 from PGP sample 61499538
GHRL G18Rinsufficiently evaluated not reviewed, f=0.005unknown CGI sample GS00253-DNA_G01_200_37
CGI sample GS00253-DNA_A02_200_37
GHRL R39Qinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B04 from PGP sample 88590671
GHRL Q39Linsufficiently evaluated noneunknown
GHRL R51Qinsufficiently evaluated pathogenicunknown
GHRL L59Minsufficiently evaluated noneunknown
GHRL L60Minsufficiently evaluated none, f=0.060unknown CGI sample GS00253-DNA_E01_200_37
hu34D5B9 exome
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01173-DNA_B02 from PGP sample 94378523
GHRL L71Minsufficiently evaluated noneunknown
GHRL L72Minsufficiently evaluated unknown, f=0.047unknown var-GS18942-1100-36-ASM
var-GS06994-1100-36-ASM
var-GS18508-1100-36-ASM
GHRL Q77Linsufficiently evaluated noneunknown
GHRL Q78Linsufficiently evaluated none, f=0.043unknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_D03 from PGP sample 27486199
GHRL Q89Linsufficiently evaluated noneunknown
GHRL Q90Luncertain benign, f=0.039unknown

Initially thought to be associated with obesity, but follow-up comparisons found no enrichment in combined data. Polyphen 2 predicts a damaging effect.

var-GS19669-1100-36-ASM
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Total results: 52

Gene search

"GENE" or "GENE A123C":

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