GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
TREM2 Q33Xinsufficiently evaluated pathogenic, f=0.000unknown

(2 web hits)

TREM2 W44Xinsufficiently evaluated pathogenicunknown

(6 web hits)

TREM2 R47Hpathogenic, f=0.002recessive

Unreported, predicted to be damaging. Other recessive mutations in this gene cause polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (a severe genetic disorder, usually lethal by age 50).

CGI sample GS00253-DNA_D01_200_37
TREM2 W78Xinsufficiently evaluated pathogenicunknown

(7 web hits)

TREM2 T96Kinsufficiently evaluated none, f=0.038unknown var-GS19704-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18517-1100-36-ASM
TREM2 V126Ginsufficiently evaluated pathogenicunknown

(1 web hit)

TREM2 D134Ginsufficiently evaluated pathogenicunknown

(6 web hits)

TREM2 K186Ninsufficiently evaluated pathogenicunknown

(9 web hits)

TREM2 L211Pinsufficiently evaluated none, f=0.040unknown

(1 web hit)

var-GS19704-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18517-1100-36-ASM
Total results: 9

Gene search

"GENE" or "GENE A123C":

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