GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
TNFRSF13B R72Hinsufficiently evaluated none, f=0.003unknown

(12 web hits)

TNFRSF13B R84Tinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
TNFRSF13B C104Runcertain pathogenic, f=0.004dominant

Hypothesized to cause common variable immunodeficiency (CVID) in a dominant manner, but observations lack statistical significance and the frequency of people having this variant (0.8%) is much higher than the prevalence of the disease (0.002%). If this variant is associated with increased risk, carriers of this variant must still have an extremely low chance of developing CVID. Other genetic factors may be necessary.

(134 web hits)

CGI sample GS01173-DNA_D06 from PGP sample 69488604
TNFRSF13B S144Xinsufficiently evaluated pathogenicunknown

(44 web hits)

TNFRSF13B P151Linsufficiently evaluated not reviewed, f=0.008unknown var-GS20502-1100-36-ASM
TNFRSF13B A181Einsufficiently evaluated pathogenic, f=0.004unknown

(129 web hits)

TNFRSF13B K188Minsufficiently evaluated none, f=0.016unknown

(1 web hit)

CGI sample GS00253-DNA_B02_200_37
var-GS18517-1100-36-ASM
TNFRSF13B S194Xinsufficiently evaluated pathogenicunknown

(31 web hits)

TNFRSF13B R202Hinsufficiently evaluated pathogenic, f=0.001unknown

(46 web hits)

TNFRSF13B A213Tinsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS18526-1100-36-ASM
TNFRSF13B V220Ainsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01669-DNA_H05 from PGP sample 10971581
TNFRSF13B P251Linsufficiently evaluated none, f=0.116unknown

(11 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18501-1100-36-ASM
var-GS18558-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
var-GS19704-1100-36-ASM
var-GS18502-1100-36-ASM
CGI sample GS00253-DNA_B01_200_37
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
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Total results: 12

Gene search

"GENE" or "GENE A123C":

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