GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
WNK4 A6Tinsufficiently evaluated not reviewed, f=0.009unknown
WNK4 G37Einsufficiently evaluated noneunknown
WNK4 A80Dinsufficiently evaluated none, f=0.021unknown var-GS21767-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
WNK4 E107Linsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_H01_200_37
WNK4 R279Hinsufficiently evaluated not reviewedunknown
WNK4 Y352Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS18940-1100-36-ASM
WNK4 L533Pinsufficiently evaluated not reviewedunknown
WNK4 P555Rinsufficiently evaluated none, f=0.009unknown var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18517-1100-36-ASM
WNK4 E562Kinsufficiently evaluated pathogenicunknown

(48 web hits)

WNK4 D564Ainsufficiently evaluated pathogenicunknown

(68 web hits)

WNK4 Q565Einsufficiently evaluated pathogenicunknown

(136 web hits)

WNK4 A601Sinsufficiently evaluated none, f=0.074unknown var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS18517-1100-36-ASM
WNK4 R677Winsufficiently evaluated none, f=0.011unknown var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18508-1100-36-ASM
WNK4 T790Ninsufficiently evaluated none, f=0.004unknown
WNK4 P825Linsufficiently evaluated not reviewed, f=0.030unknown var-GS19017-1100-36-ASM
WNK4 T891Minsufficiently evaluated none, f=0.012unknown var-GS21767-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19026-1100-36-ASM
WNK4 P910Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_D01 from PGP sample 31286272
WNK4 P961Sinsufficiently evaluated none, f=0.078unknown var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS18517-1100-36-ASM
WNK4 V969Iinsufficiently evaluated not reviewed, f=0.008unknown var-GS19704-1100-36-ASM
WNK4 P1025Linsufficiently evaluated not reviewed, f=0.010unknown var-GS19670-1100-36-ASM
WNK4 R1185Cpathogenic, f=0.000dominant

Reported to cause pseudohypoaldosteronism type II in a dominant manner, causing hypertension, hyperkalemia, increased renal salt reabsorption, and impaired K+ and H+ excretion. One family is reported carrying this variant, but this appears to lack statistical significance. Only a handful of families have been reported with this genetic disease, and the variant is extremely rare.

(35 web hits)

Page: 1 2 3
Total results: 21

Gene search

"GENE" or "GENE A123C":

Log in