GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
BCS1L G35Rinsufficiently evaluated pathogenicunknown

(7 web hits)

BCS1L R45Cinsufficiently evaluated pathogenicunknown

(12 web hits)

BCS1L T50Ainsufficiently evaluated pathogenicunknown

(3 web hits)

BCS1L R56Xinsufficiently evaluated pathogenicunknown

(13 web hits)

BCS1L S78Ginsufficiently evaluated pathogenicrecessive

(51 web hits)

BCS1L P99Linsufficiently evaluated pathogenicunknown

(10 web hits)

BCS1L R155Pinsufficiently evaluated pathogenicunknown

(12 web hits)

BCS1L R183Hinsufficiently evaluated pathogenicunknown

(6 web hits)

BCS1L R184Cinsufficiently evaluated pathogenic, f=0.000unknown

(10 web hits)

BCS1L V205Iinsufficiently evaluated not reviewed, f=0.000unknown var-GS19649-1100-36-ASM
var-GS19670-1100-36-ASM
BCS1L D210Ninsufficiently evaluated none, f=0.066unknown

(3 web hits)

var-GS19025-1100-36-ASM
var-GS19020-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS19129-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
BCS1L S259Tinsufficiently evaluated not reviewed, f=0.001unknown var-GS19704-1100-36-ASM
var-GS18502-1100-36-ASM
BCS1L S277Ninsufficiently evaluated pathogenicunknown

(15 web hits)

BCS1L N332Kinsufficiently evaluated not reviewedunknown
BCS1L V353Minsufficiently evaluated pathogenicunknown

(10 web hits)

Page: 1 2
Total results: 15

Gene search

"GENE" or "GENE A123C":

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