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)

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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