GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
NLRP3 V72Minsufficiently evaluated not reviewed, f=0.008unknown var-GS18940-1100-36-ASM
NLRP3 K142Rinsufficiently evaluated not reviewedunknown
NLRP3 V198Minsufficiently evaluated pathogenicunknown

(84 web hits)

NLRP3 V200Muncertain benignunknown

Reported to cause familial cold urticaria by Hoffman et al, in a dominant manner. However the variant is quite common (1 in 50 Europeans is a carrier) while the disease is extremely rare (<1 in 1 million) — therefore the variant can’t be causing this effect.

CGI sample GS01175-DNA_D01 from PGP sample 31286272
NLRP3 R260Winsufficiently evaluated pathogenicunknown

(44 web hits)

NLRP3 C279Winsufficiently evaluated noneunknown
NLRP3 D303Ninsufficiently evaluated pathogenicunknown

(27 web hits)

NLRP3 F309Sinsufficiently evaluated pathogenicunknown

(15 web hits)

NLRP3 A352Vinsufficiently evaluated pathogenicunknown

(16 web hits)

NLRP3 L353Pinsufficiently evaluated pathogenicunknown

(31 web hits)

NLRP3 A439Vinsufficiently evaluated pathogenicunknown

(18 web hits)

NLRP3 G569Rinsufficiently evaluated pathogenicunknown

(17 web hits)

NLRP3 F573Sinsufficiently evaluated pathogenicunknown

(13 web hits)

NLRP3 E627Ginsufficiently evaluated pathogenicunknown

(14 web hits)

NLRP3 Q705Kinsufficiently evaluated not reviewed, f=0.034unknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01669-DNA_H05 from PGP sample 10971581
var-GS06994-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
NLRP3 L832Iinsufficiently evaluated not reviewed, f=0.001unknown var-GS18508-1100-36-ASM
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Total results: 16

Gene search

"GENE" or "GENE A123C":

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