GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SCN4A R18Hinsufficiently evaluated not reviewed, f=0.008unknown var-GS18517-1100-36-ASM
SCN4A R18Sinsufficiently evaluated not reviewed, f=0.001unknown var-GS20509-1100-36-ASM
SCN4A R31Linsufficiently evaluated not reviewed, f=0.005unknown
SCN4A E81Qinsufficiently evaluated not reviewed, f=0.005unknown
SCN4A L83Pinsufficiently evaluated not reviewed, f=0.001unknown var-GS19020-1100-36-ASM
SCN4A M135Linsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D01 from PGP sample 31286272
SCN4A M135Tinsufficiently evaluated not reviewed, f=0.004unknown var-GS19703-1100-36-ASM
var-GS18508-1100-36-ASM
SCN4A I141Vinsufficiently evaluated pathogenicunknown

(25 web hits)

SCN4A A204Vinsufficiently evaluated not reviewed, f=0.000unknown var-GS18505-1100-36-ASM
SCN4A T323Minsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
SCN4A V428Linsufficiently evaluated not reviewed, f=0.008unknown var-GS18947-1100-36-ASM
SCN4A V445Minsufficiently evaluated pathogenicunknown

(55 web hits)

SCN4A S524Ginsufficiently evaluated not reviewed, f=0.916unknown

(4 web hits)

CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants (hom)
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 (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
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 (hom)
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
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 (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
SCN4A G526Rinsufficiently evaluated not reviewed, f=0.001unknown var-GS19704-1100-36-ASM
SCN4A R669Hinsufficiently evaluated pathogenicunknown

(71 web hits)

SCN4A R672Ginsufficiently evaluated pathogenicunknown

(34 web hits)

SCN4A R672Hinsufficiently evaluated pathogenicunknown

(46 web hits)

SCN4A R672Sinsufficiently evaluated pathogenicunknown

(39 web hits)

SCN4A R675Ginsufficiently evaluated pathogenicunknown

(5 web hits)

SCN4A R675Qinsufficiently evaluated pathogenicunknown

(67 web hits)

SCN4A R675Winsufficiently evaluated pathogenicunknown

(2 web hits)

SCN4A I693Tinsufficiently evaluated pathogenicunknown

(33 web hits)

SCN4A T704Minsufficiently evaluated pathogenicunknown

(202 web hits)

SCN4A V730Minsufficiently evaluated none, f=0.000unknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS00253-DNA_A01_200_37
SCN4A V781Iinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
SCN4A L801Finsufficiently evaluated not reviewed, f=0.031unknown var-GS12004-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
var-GS18940-1100-36-ASM
SCN4A L801Vinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
SCN4A S804Finsufficiently evaluated pathogenicunknown

(35 web hits)

SCN4A A874Ginsufficiently evaluated noneunknown
SCN4A P882Qinsufficiently evaluated not reviewed, f=0.003unknown
SCN4A M897Iinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_C01_200_37
SCN4A S906Tinsufficiently evaluated not reviewed, f=0.012unknown var-GS20502-1100-36-ASM
CGI sample GS01173-DNA_A07 from PGP sample 96240009
SCN4A A1156Tinsufficiently evaluated pathogenic, f=0.000unknown

(34 web hits)

SCN4A P1158Sinsufficiently evaluated pathogenicunknown

(34 web hits)

SCN4A I1160Vinsufficiently evaluated pathogenicunknown

(33 web hits)

SCN4A F1182Cinsufficiently evaluated not reviewedunknown
SCN4A V1293Iinsufficiently evaluated pathogenicunknown

(31 web hits)

SCN4A N1297Kinsufficiently evaluated pathogenicunknown

(12 web hits)

SCN4A G1306Ainsufficiently evaluated pathogenicunknown

(45 web hits)

SCN4A G1306Einsufficiently evaluated pathogenicunknown

(59 web hits)

SCN4A G1306Vinsufficiently evaluated pathogenicunknown

(31 web hits)

SCN4A T1313Minsufficiently evaluated pathogenicunknown

(71 web hits)

SCN4A N1376Dinsufficiently evaluated not reviewed, f=0.602unknown

(2 web hits)

CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
SCN4A L1433Rinsufficiently evaluated pathogenicunknown

(33 web hits)

SCN4A V1442Einsufficiently evaluated pathogenicunknown

(37 web hits)

SCN4A R1448Cinsufficiently evaluated pathogenicunknown

(93 web hits)

SCN4A R1448Hinsufficiently evaluated pathogenicunknown

(88 web hits)

SCN4A M1476Iinsufficiently evaluated pathogenicunknown

(12 web hits)

SCN4A N1503Sinsufficiently evaluated not reviewed, f=0.001unknown var-GS19129-1100-36-ASM
SCN4A I1513Minsufficiently evaluated not reviewedunknown
SCN4A V1589Minsufficiently evaluated pathogenicunknown

(72 web hits)

SCN4A M1592Vinsufficiently evaluated pathogenicunknown

(65 web hits)

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Total results: 52

Gene search

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