GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SCN2A R19Kinsufficiently evaluated none, f=0.058unknown

(106 web hits)

hu3215A7 build 36 substitution variants
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19649-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS06985-1100-36-ASM
SCN2A R188Winsufficiently evaluated pathogenic, f=0.000unknown

(38 web hits)

SCN2A R223Qinsufficiently evaluated pathogenicunknown

(12 web hits)

SCN2A Q457Einsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_D06 from PGP sample 69488604
SCN2A K499Einsufficiently evaluated not reviewed, f=0.008unknown var-GS19704-1100-36-ASM
SCN2A P698Tinsufficiently evaluated not reviewedunknown
SCN2A V892Iinsufficiently evaluated pathogenicunknown

(7 web hits)

SCN2A K908Rinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B02 from PGP sample 94378523
SCN2A L1003Iinsufficiently evaluated pathogenicunknown

(8 web hits)

SCN2A V1086Ainsufficiently evaluated not reviewedunknown
SCN2A R1177Winsufficiently evaluated not reviewed, f=0.008unknown var-GS10851-1100-36-ASM
SCN2A R1319Qinsufficiently evaluated pathogenicunknown

(26 web hits)

SCN2A L1330Finsufficiently evaluated pathogenicunknown

(18 web hits)

SCN2A L1563Vinsufficiently evaluated pathogenicunknown

(45 web hits)

SCN2A K1936Rinsufficiently evaluated not reviewedunknown
SCN2A T1966Minsufficiently evaluated not reviewedunknown
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Total results: 16

Gene search

"GENE" or "GENE A123C":

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