GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
AVP Y2Hinsufficiently evaluated pathogenicunknown

(644 web hits)

AVP P7Linsufficiently evaluated pathogenicunknown

(271 web hits)

AVP G17Vinsufficiently evaluated pathogenicunknown

(7 web hits)

AVP G23Rinsufficiently evaluated pathogenicunknown

(1 web hit)

AVP G23Vinsufficiently evaluated pathogenicunknown

(2 web hits)

AVP G47Vinsufficiently evaluated noneunknown

(1 web hit)

AVP S56Finsufficiently evaluated pathogenicunknown

(5 web hits)

AVP G57Sinsufficiently evaluated pathogenicunknown

(9 web hits)

AVP C61Yinsufficiently evaluated pathogenicunknown

(4 web hits)

AVP G62Winsufficiently evaluated pathogenicunknown

(1 web hit)

AVP G65Vinsufficiently evaluated pathogenicunknown

(5 web hits)

AVP C67Xinsufficiently evaluated pathogenicunknown

(22 web hits)

AVP V67Ainsufficiently evaluated pathogenicunknown

(9 web hits)

AVP E82Xinsufficiently evaluated pathogenicunknown

(5 web hits)

AVP G96Rinsufficiently evaluated noneunknown
AVP G96Cinsufficiently evaluated pathogenicdominant

This variant as well as G96D are implicated in causing neurohypophyseal diabetes insipidus in a dominant fashion.

(3 web hits)

AVP C116Ginsufficiently evaluated pathogenicunknown
AVPI1 S27Linsufficiently evaluated not reviewedunknown

(1 web hit)

AVPI1 L36Rinsufficiently evaluated none, f=0.056unknown CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
CGI sample GS000006909
var-GS07357-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01175-DNA_D03 from PGP sample 27486199
AVPI1 A41Ginsufficiently evaluated none, f=0.486unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM (hom)
CGI sample GS00253-DNA_B02_200_37 (hom)
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
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM (hom)
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
AVPI1 A70Dinsufficiently evaluated not reviewed, f=0.000unknown var-GS18526-1100-36-ASM
AVPI1 L95Shiftinsufficiently evaluated not reviewed, f=0.008unknown
AVPI1 E117Kinsufficiently evaluated not reviewedunknown

(1 web hit)

AVPI1 S140Tinsufficiently evaluated not reviewed, f=0.015unknown var-GS18504-1100-36-ASM
var-GS21767-1100-36-ASM
AVPR1A G6Sinsufficiently evaluated none, f=0.053unknown var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19026-1100-36-ASM
AVPR1A F373Iinsufficiently evaluated not reviewed, f=0.008unknown var-GS18940-1100-36-ASM
AVPR1A S382Rinsufficiently evaluated not reviewed, f=0.008unknown var-GS19238-1100-36-ASM
AVPR1B K65Ninsufficiently evaluated not reviewedunknown hu34D5B9 exome
CGI sample GS01173-DNA_D06 from PGP sample 69488604
AVPR1B W187Rinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
AVPR1B G191Rinsufficiently evaluated none, f=0.060unknown var-GS19025-1100-36-ASM
CGI sample GS01175-DNA_H01 from PGP sample 94797469
var-GS18504-1100-36-ASM (hom)
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19669-1100-36-ASM
AVPR1B R364Hinsufficiently evaluated none, f=0.105unknown hu34D5B9 exome
CGI sample GS000005532
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19648-1100-36-ASM
CGI sample GS00253-DNA_F01_200_37 (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS20509-1100-36-ASM
AVPR1B I423Ninsufficiently evaluated not reviewed, f=0.000unknown var-GS19700-1100-36-ASM
AVPR2 T7Sinsufficiently evaluated not reviewed, f=0.033unknown var-GS19700-1100-36-ASM (hom)
AVPR2 G12Einsufficiently evaluated not reviewed, f=0.019unknown var-GS19735-1100-36-ASM (hom)
var-GS19834-1100-36-ASM (hom)
var-GS18947-1100-36-ASM
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
AVPR2 A42Vinsufficiently evaluated not reviewed, f=0.012unknown var-GS18501-1100-36-ASM (hom)
var-GS19704-1100-36-ASM
AVPR2 I46Kinsufficiently evaluated pathogenicunknown

(13 web hits)

AVPR2 W71Xinsufficiently evaluated pathogenicunknown

(29 web hits)

AVPR2 D85Ninsufficiently evaluated pathogenicunknown

(49 web hits)

AVPR2 R104Cinsufficiently evaluated pathogenicunknown

(8 web hits)

AVPR2 F105Vinsufficiently evaluated pathogenicunknown

(13 web hits)

AVPR2 R113Winsufficiently evaluated pathogenicunknown

(62 web hits)

AVPR2 A132Dinsufficiently evaluated pathogenicunknown

(11 web hits)

AVPR2 R137Cinsufficiently evaluated pathogenicunknown

(46 web hits)

AVPR2 R137Hinsufficiently evaluated pathogenicunknown

(275 web hits)

AVPR2 R137Linsufficiently evaluated pathogenicunknown

(19 web hits)

AVPR2 A147Vinsufficiently evaluated not reviewed, f=0.022unknown var-GS18505-1100-36-ASM
var-GS18508-1100-36-ASM
AVPR2 R181Cinsufficiently evaluated pathogenicunknown

(49 web hits)

AVPR2 G185Cinsufficiently evaluated pathogenicunknown

(132 web hits)

AVPR2 G201Dinsufficiently evaluated pathogenicunknown

(43 web hits)

AVPR2 R203Cinsufficiently evaluated pathogenicunknown

(2 web hits)

AVPR2 Y205Cinsufficiently evaluated pathogenicunknown

(29 web hits)

AVPR2 R252Winsufficiently evaluated benign, f=0.008unknown

(8 web hits)

AVPR2 Y280Cinsufficiently evaluated pathogenicunknown

(14 web hits)

AVPR2 R337Xinsufficiently evaluated pathogenicunknown

(74 web hits)

AVPR2 T360Ainsufficiently evaluated not reviewed, f=0.000unknown
Page: 1 2 3 4 5 6
Total results: 55

Gene search

"GENE" or "GENE A123C":

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