GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SCN1A A23Vinsufficiently evaluated not reviewed, f=0.001unknown var-GS19703-1100-36-ASM
SCN1A D45DDinsufficiently evaluated not reviewed, f=0.008unknown var-GS06994-1100-36-ASM
SCN1A M145Tinsufficiently evaluated pathogenicunknown

(53 web hits)

SCN1A D188Vinsufficiently evaluated pathogenicunknown

(107 web hits)

SCN1A R222Xinsufficiently evaluated pathogenicunknown

(30 web hits)

SCN1A E289Kinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_A01_200_37
SCN1A T303Sinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D03 from PGP sample 27486199
SCN1A T463Ainsufficiently evaluated not reviewedunknown
SCN1A T875Minsufficiently evaluated pathogenicunknown

(114 web hits)

SCN1A L986Finsufficiently evaluated pathogenicunknown

(50 web hits)

SCN1A A1039Tinsufficiently evaluated not reviewedunknown
SCN1A A1056Tinsufficiently evaluated none, f=0.724unknown

(20 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37 (hom)
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37 (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
SCN1A A1067Tinsufficiently evaluated not reviewedunknown
SCN1A W1204Rinsufficiently evaluated pathogenicunknown

(130 web hits)

SCN1A K1270Tinsufficiently evaluated pathogenicunknown

(26 web hits)

SCN1A E1297Dinsufficiently evaluated not reviewed, f=0.001unknown var-GS10851-1100-36-ASM
SCN1A L1348Qinsufficiently evaluated not reviewedunknown
SCN1A V1353Linsufficiently evaluated pathogenicunknown

(88 web hits)

SCN1A V1428Ainsufficiently evaluated pathogenicunknown

(18 web hits)

SCN1A Q1489Hinsufficiently evaluated pathogenicunknown

(2 web hits)

SCN1A Q1489Kinsufficiently evaluated pathogenicunknown

(111 web hits)

SCN1A F1499Linsufficiently evaluated pathogenicunknown

(2 web hits)

SCN1A V1611Finsufficiently evaluated pathogenicunknown

(26 web hits)

SCN1A R1648Hinsufficiently evaluated pathogenicunknown

(207 web hits)

SCN1A I1656Minsufficiently evaluated pathogenicunknown

(94 web hits)

SCN1A T1709Iinsufficiently evaluated pathogenicunknown

(23 web hits)

SCN1A S1868Ninsufficiently evaluated not reviewedunknown
SCN1A I1944Tinsufficiently evaluated none, f=0.009unknown var-GS18504-1100-36-ASM
var-GS19129-1100-36-ASM
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Total results: 28

Gene search

"GENE" or "GENE A123C":

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