GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SCNN1A M1Iinsufficiently evaluated not reviewedunknown

(1 web hit)

SCNN1A M24Iinsufficiently evaluated not reviewedunknown
SCNN1A P37Linsufficiently evaluated not reviewed, f=0.002unknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
SCNN1A M60Iinsufficiently evaluated not reviewedunknown
SCNN1A R81Cinsufficiently evaluated pathogenicunknown

(2 web hits)

SCNN1A V114Iinsufficiently evaluated pathogenicunknown

(20 web hits)

SCNN1A R181Winsufficiently evaluated not reviewed, f=0.009unknown var-GS07357-1100-36-ASM
SCNN1A R240Winsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D03 from PGP sample 27486199
SCNN1A A334Tinsufficiently evaluated none, f=0.321unknown

(1 web hit)

var-GS19025-1100-36-ASM (hom)
var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
var-GS19701-1100-36-ASM (hom)
var-GS10851-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
var-GS18537-1100-36-ASM
var-GS19129-1100-36-ASM (hom)
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS18508-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS18940-1100-36-ASM
var-GS18517-1100-36-ASM
SCNN1A L343Minsufficiently evaluated not reviewed, f=0.008unknown var-GS19239-1100-36-ASM
SCNN1A A357Tinsufficiently evaluated noneunknown
SCNN1A A393Tinsufficiently evaluated none, f=0.177unknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
CGI sample GS000006909
CGI sample GS00253-DNA_B02_200_37 (hom)
SCNN1A E404Xinsufficiently evaluated noneunknown
SCNN1A E427Xinsufficiently evaluated noneunknown
SCNN1A P437Linsufficiently evaluated not reviewed, f=0.008unknown var-GS19025-1100-36-ASM
SCNN1A E463Xinsufficiently evaluated noneunknown
SCNN1A W493Rinsufficiently evaluated pathogenic, f=0.008unknown

(29 web hits)

var-GS19669-1100-36-ASM
SCNN1A R508Xinsufficiently evaluated pathogenicunknown
SCNN1A W552Rinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01669-DNA_B05 from PGP sample 86486261
SCNN1A S562Linsufficiently evaluated pathogenicunknown

(8 web hits)

SCNN1A V573Iinsufficiently evaluated noneunknown

(12 web hits)

SCNN1A V596Iinsufficiently evaluated noneunknown
SCNN1A C618Finsufficiently evaluated none, f=0.047unknown

(3 web hits)

var-GS19020-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18505-1100-36-ASM
SCNN1A V632Iinsufficiently evaluated none, f=0.004unknown
SCNN1A C641Finsufficiently evaluated noneunknown
SCNN1A T663Ainsufficiently evaluated none, f=0.774unknown

(18 web hits)

var-GS19025-1100-36-ASM (hom)
hu3215A7 build 36 substitution variants
var-GS19020-1100-36-ASM (hom)
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
var-GS07357-1100-36-ASM
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
var-GS19701-1100-36-ASM (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (hom)
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM
var-GS20502-1100-36-ASM
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
SCNN1A C677Finsufficiently evaluated none, f=0.032unknown
SCNN1A T686Ainsufficiently evaluated noneunknown

(1 web hit)

SCNN1A T722Ainsufficiently evaluated none, f=0.769unknown

(1 web hit)

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
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
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 (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
CGI sample GS00253-DNA_D01_200_37 (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
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
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
Page: 1 2 3
Total results: 29

Gene search

"GENE" or "GENE A123C":

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