GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
NLRP7 QL310RIinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
NLRP7 Q310Rinsufficiently evaluated none, f=0.011unknown
NLRP7 L311Iinsufficiently evaluated none, f=0.011unknown
NLRP7 V319Iinsufficiently evaluated none, f=0.298unknown

(8 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
var-GS19025-1100-36-ASM (hom)
hu34D5B9 exome
var-GS19020-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
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
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS19648-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37 (hom)
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS19669-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
NLRP7 W367Xinsufficiently evaluated noneunknown
NLRP7 R390Hinsufficiently evaluated not reviewed, f=0.002unknown var-GS19017-1100-36-ASM
NLRP7 R432Xinsufficiently evaluated pathogenicunknown

(9 web hits)

NLRP7 V440Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
NLRP7 A481Tinsufficiently evaluated none, f=0.117unknown

(8 web hits)

hu34D5B9 exome
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS000005532
var-GS10851-1100-36-ASM
var-GS19017-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS06994-1100-36-ASM
var-GS18508-1100-36-ASM
NLRP7 G487Einsufficiently evaluated none, f=0.146unknown

(9 web hits)

var-GS19020-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS18502-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS18517-1100-36-ASM
NLRP7 A494Tinsufficiently evaluated not reviewed, f=0.000unknown
NLRP7 K511Rinsufficiently evaluated none, f=0.034unknown

(8 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS000006909
var-GS18502-1100-36-ASM
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS19026-1100-36-ASM
NLRP7 G627Rinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
NLRP7 V671Iinsufficiently evaluated none, f=0.008unknown var-GS18555-1100-36-ASM
NLRP7 R693Pinsufficiently evaluated pathogenicunknown

(28 web hits)

NLRP7 R693Winsufficiently evaluated pathogenic, f=0.000unknown

(12 web hits)

NLRP7 V699Iinsufficiently evaluated none, f=0.000unknown

(8 web hits)

NLRP7 N913Sinsufficiently evaluated pathogenic, f=0.001unknown

(11 web hits)

NLRP7 T971Ainsufficiently evaluated not reviewedunknown
NLRP7 T1000Ainsufficiently evaluated not reviewed, f=0.055unknown

(1 web hit)

var-GS18504-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
NLRP7 T1028Ainsufficiently evaluated not reviewed, f=0.027unknown

(9 web hits)

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Total results: 21

Gene search

"GENE" or "GENE A123C":

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