GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CYP27A1 R53Linsufficiently evaluated none, f=0.000unknown
CYP27A1 G112Einsufficiently evaluated pathogenicunknown

(4 web hits)

CYP27A1 A169Vinsufficiently evaluated none, f=0.008unknown

(1 web hit)

var-GS19701-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18517-1100-36-ASM
CYP27A1 T339Minsufficiently evaluated pathogenicunknown

(1 web hit)

CYP27A1 R362Cinsufficiently evaluated pathogenicunknown

(6 web hits)

CYP27A1 R362Sinsufficiently evaluated pathogenicunknown
CYP27A1 R372Qinsufficiently evaluated pathogenicunknown

(5 web hits)

CYP27A1 P384Luncertain benign, f=0.018unknown

Probably not pathogenic. Although predicted to be disruptive and treated by some as pathogenic, reports of this variant in cases were all linked with an upstream frameshift variant — this supports the variant as a nonpathogenic ancestral polymorphism.

(2 web hits)

CGI sample GS00253-DNA_A02_200_37
CYP27A1 R441Qinsufficiently evaluated pathogenicunknown
CYP27A1 R441Winsufficiently evaluated pathogenicunknown

(2 web hits)

CYP27A1 R446Cinsufficiently evaluated pathogenicunknown
CYP27A1 R479Ginsufficiently evaluated pathogenicunknown

(1 web hit)

CYP27A1 T505Rinsufficiently evaluated not reviewedunknown
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Total results: 13

Gene search

"GENE" or "GENE A123C":

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