GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CYP11B1 C10Yinsufficiently evaluated not reviewed, f=0.001unknown var-GS19834-1100-36-ASM
CYP11B1 P42Sinsufficiently evaluated pathogenicunknown

(26 web hits)

CYP11B1 R43Qinsufficiently evaluated none, f=0.021unknown

(17 web hits)

CGI sample GS01669-DNA_F02 from PGP sample 40767107
var-GS19735-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B01_200_37
var-GS18526-1100-36-ASM (hom)
var-GS18947-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
CYP11B1 P94Linsufficiently evaluated pathogenicunknown

(69 web hits)

CYP11B1 W116Xinsufficiently evaluated pathogenicunknown

(5 web hits)

CYP11B1 Q121Einsufficiently evaluated not reviewedunknown

(1 web hit)

CYP11B1 N133Hinsufficiently evaluated pathogenicunknown

(25 web hits)

CYP11B1 T248Iinsufficiently evaluated none, f=0.000unknown

(4 web hits)

var-GS19704-1100-36-ASM
CYP11B1 T318Minsufficiently evaluated pathogenicunknown

(49 web hits)

CYP11B1 T319Minsufficiently evaluated pathogenicunknown

(19 web hits)

CYP11B1 N335Dinsufficiently evaluated not reviewed, f=0.002unknown var-GS18505-1100-36-ASM
CYP11B1 A348Tinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_D06 from PGP sample 69488604
CYP11B1 A368Dinsufficiently evaluated pathogenicunknown

(62 web hits)

CYP11B1 R374Qinsufficiently evaluated pathogenicunknown

(13 web hits)

CYP11B1 A386Vinsufficiently evaluated benign, f=0.022recessive

The variant has been reported causative for congenital adrenal hyperplasia, but a later report reclassifies it as a benign polymorphism after it was seen in one control.

(8 web hits)

CGI sample GS01669-DNA_F02 from PGP sample 40767107
var-GS19735-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS18537-1100-36-ASM
var-GS18526-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
var-GS18517-1100-36-ASM
CYP11B1 Y423Xinsufficiently evaluated pathogenicunknown

(19 web hits)

CYP11B1 R448Hinsufficiently evaluated pathogenicunknown

(130 web hits)

Page: 1 2
Total results: 17

Gene search

"GENE" or "GENE A123C":

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