GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PSEN1 A79Vinsufficiently evaluated pathogenicunknown

(22 web hits)

PSEN1 L85Pinsufficiently evaluated pathogenicunknown

(4 web hits)

PSEN1 C92Sinsufficiently evaluated pathogenicunknown

(6 web hits)

PSEN1 L113Pinsufficiently evaluated pathogenicunknown

(37 web hits)

PSEN1 E120Dinsufficiently evaluated pathogenicunknown

(4 web hits)

PSEN1 M139Vinsufficiently evaluated pathogenicunknown

(79 web hits)

PSEN1 M146Iinsufficiently evaluated pathogenicunknown

(8 web hits)

PSEN1 M146Linsufficiently evaluated pathogenicunknown

(490 web hits)

PSEN1 M146Vinsufficiently evaluated pathogenicunknown

(80 web hits)

PSEN1 H163Rinsufficiently evaluated pathogenicunknown

(67 web hits)

PSEN1 H163Yinsufficiently evaluated pathogenicunknown

(29 web hits)

PSEN1 L166Pinsufficiently evaluated pathogenicunknown

(46 web hits)

PSEN1 S170Finsufficiently evaluated pathogenicunknown

(69 web hits)

PSEN1 L174Minsufficiently evaluated pathogenicunknown

(5 web hits)

PSEN1 G183Vinsufficiently evaluated pathogenicunknown

(19 web hits)

PSEN1 V187Ainsufficiently evaluated not reviewedunknown
PSEN1 V191Ainsufficiently evaluated not reviewedunknown

(1 web hit)

PSEN1 G206Ainsufficiently evaluated pathogenicunknown

(12 web hits)

PSEN1 A246Einsufficiently evaluated pathogenicunknown

(134 web hits)

PSEN1 L250Sinsufficiently evaluated pathogenicunknown

(20 web hits)

PSEN1 G266Sinsufficiently evaluated pathogenicunknown

(4 web hits)

PSEN1 P267Sinsufficiently evaluated pathogenicunknown

(6 web hits)

PSEN1 L271Vinsufficiently evaluated pathogenicunknown

(25 web hits)

PSEN1 R278Iinsufficiently evaluated pathogenicunknown

(15 web hits)

PSEN1 R278Tinsufficiently evaluated pathogenicunknown

(40 web hits)

PSEN1 E280Ainsufficiently evaluated pathogenicunknown

(80 web hits)

PSEN1 E280Ginsufficiently evaluated pathogenicunknown

(38 web hits)

PSEN1 L286Vinsufficiently evaluated pathogenicunknown

(436 web hits)

PSEN1 E318Ginsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
PSEN1 D333Ginsufficiently evaluated pathogenic, f=0.000unknown

(5 web hits)

PSEN1 S353Linsufficiently evaluated not reviewedunknown

(1 web hit)

PSEN1 S357Linsufficiently evaluated not reviewedunknown
PSEN1 C410Yinsufficiently evaluated pathogenicunknown

(39 web hits)

PSEN1 A426Pinsufficiently evaluated pathogenicunknown

(7 web hits)

PSEN1 A431Einsufficiently evaluated pathogenicunknown

(74 web hits)

PSEN1 P436Qinsufficiently evaluated pathogenicunknown

(28 web hits)

PSEN1 I437Vinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
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Total results: 37

Gene search

"GENE" or "GENE A123C":

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