GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
NEU1 W23Xinsufficiently evaluated pathogenicunknown

(5 web hits)

NEU1 W29Xinsufficiently evaluated pathogenicunknown

(11 web hits)

NEU1 P80Linsufficiently evaluated pathogenicunknown

(5 web hits)

NEU1 G88Ainsufficiently evaluated none, f=0.030unknown var-GS19700-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18508-1100-36-ASM
NEU1 L91Rinsufficiently evaluated pathogenicunknown
NEU1 T183Iinsufficiently evaluated not reviewedunknown
NEU1 V217Minsufficiently evaluated pathogenic, f=0.000unknown

(12 web hits)

NEU1 R225Pinsufficiently evaluated pathogenicunknown

(5 web hits)

NEU1 W240Rinsufficiently evaluated pathogenicunknown

(4 web hits)

NEU1 G243Rinsufficiently evaluated pathogenicunknown

(12 web hits)

NEU1 F260Yinsufficiently evaluated pathogenicunknown
NEU1 D263Ginsufficiently evaluated not reviewedunknown
NEU1 A298Vinsufficiently evaluated pathogenicunknown

(5 web hits)

NEU1 L303Pinsufficiently evaluated pathogenicunknown
NEU1 P316Sinsufficiently evaluated pathogenicunknown

(5 web hits)

NEU1 E377Xinsufficiently evaluated pathogenicunknown
Page: 1 2
Total results: 16

Gene search

"GENE" or "GENE A123C":

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