GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
NR5A1 M1Iinsufficiently evaluated pathogenicunknown

(4 web hits)

NR5A1 V15Minsufficiently evaluated pathogenicunknown

(31 web hits)

NR5A1 C16Xinsufficiently evaluated pathogenicunknown

(45 web hits)

NR5A1 TC29PRinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
NR5A1 G35Einsufficiently evaluated pathogenicunknown

(123 web hits)

NR5A1 C55Yinsufficiently evaluated not reviewedunknown
NR5A1 M78Iinsufficiently evaluated pathogenicunknown

(33 web hits)

NR5A1 G91Sinsufficiently evaluated pathogenicunknown

(33 web hits)

NR5A1 R92Qinsufficiently evaluated pathogenicunknown

(78 web hits)

NR5A1 G146Ainsufficiently evaluated none, f=0.246unknown

(37 web hits)

var-GS19025-1100-36-ASM
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM (hom)
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-GS19703-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS18555-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37 (hom)
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM (hom)
var-GS18526-1100-36-ASM (hom)
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS18508-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
NR5A1 V223Minsufficiently evaluated none, f=0.008unknown var-GS18517-1100-36-ASM
NR5A1 R255Linsufficiently evaluated pathogenicunknown

(53 web hits)

NR5A1 D293Ninsufficiently evaluated pathogenicunknown

(3 web hits)

NR5A1 M431MRALSMinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D05 from PGP sample 1205491
NR5A1 L437Qinsufficiently evaluated pathogenicunknown

(38 web hits)

Page: 1 2
Total results: 15

Gene search

"GENE" or "GENE A123C":

Log in