GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CD40 C8Ginsufficiently evaluated not reviewed, f=0.000unknown

(496 web hits)

CD40 C83Rinsufficiently evaluated pathogenicunknown

(3 web hits)

CD40 S124Linsufficiently evaluated none, f=0.044unknown

(3 web hits)

var-GS18501-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37 (hom)
var-GS18505-1100-36-ASM
var-GS18517-1100-36-ASM
CD40 R182Winsufficiently evaluated noneunknown

(3 web hits)

CD40 P227Ainsufficiently evaluated not reviewed, f=0.007unknown hu34D5B9 exome
var-GS19735-1100-36-ASM
var-GS18537-1100-36-ASM
CD40LG M36Rinsufficiently evaluated pathogenicunknown

(3 web hits)

CD40LG A123Einsufficiently evaluated pathogenicunknown

(1 web hit)

CD40LG W140Ginsufficiently evaluated pathogenicunknown

(1 web hit)

CD40LG W140Xinsufficiently evaluated pathogenicunknown

(2 web hits)

CD40LG L155Pinsufficiently evaluated pathogenicunknown
CD40LG T211Dinsufficiently evaluated pathogenicunknown
CD40LG G219Runcertain pathogenic, f=0.011recessive

Study of a single family with X-linked immunodeficiency implicated this variant as causal when combined with XIAP-G466X. The authors’ hypothesis is that either variant alone has much less effect, if any. Because 2% of males carry this variant, it is very unlikely that the variant alone has any severe effect.

(3 web hits)

CGI sample GS01669-DNA_D02 from PGP sample 27316983
var-GS20502-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
CD40LG G227Vinsufficiently evaluated pathogenicunknown

(1 web hit)

CD40LG A235Pinsufficiently evaluated pathogenicunknown
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Total results: 14

Gene search

"GENE" or "GENE A123C":

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