GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PSEN2 R62Hinsufficiently evaluated none, f=0.015unknown

(21 web hits)

var-GS18501-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS18517-1100-36-ASM
PSEN2 A85Vinsufficiently evaluated pathogenicunknown

(23 web hits)

PSEN2 T122Rinsufficiently evaluated pathogenicunknown

(18 web hits)

PSEN2 T122Pinsufficiently evaluated pathogenicunknown

(28 web hits)

PSEN2 S130Luncertain pathogenic, f=0.001dominant

Occasional observations report this in patients with Alzheimer’s Disease (AD), and other variants in this gene cause early-onset AD. One group speculates an association with dilated cardiomyopathy. However, a functional study found no abnormal behavior (Walker et al.) and none of these studies showed statistically significant associations of the variant with either of these diseases.

(6 web hits)

PSEN2 N141Iinsufficiently evaluated pathogenicunknown

(164 web hits)

PSEN2 M239Iinsufficiently evaluated pathogenicunknown

(43 web hits)

PSEN2 M239Vinsufficiently evaluated pathogenicunknown

(51 web hits)

PSEN2 A252Tinsufficiently evaluated not reviewed, f=0.000unknown var-GS18505-1100-36-ASM
PSEN2 T430Minsufficiently evaluated pathogenic, f=0.000unknown

(109 web hits)

PSEN2 D439Ainsufficiently evaluated pathogenic, f=0.000unknown

(43 web hits)

Page: 1 2
Total results: 11

Gene search

"GENE" or "GENE A123C":

Log in