GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ALOXE3 P11Linsufficiently evaluated not reviewedunknown
ALOXE3 Q31Hinsufficiently evaluated not reviewedunknown
ALOXE3 P33Ainsufficiently evaluated not reviewedunknown
ALOXE3 R100Ginsufficiently evaluated not reviewedunknown
ALOXE3 W104Cinsufficiently evaluated not reviewed, f=0.008unknown var-GS20502-1100-36-ASM
ALOXE3 R234Xinsufficiently evaluated pathogenicunknown

(3 web hits)

ALOXE3 L237Mpathogenic, f=0.003recessive

Found in an 18m child with autosomal recessive congenital ichtyosis. In vitro studies showed activity similar to wild type, and family was unavailable for further study. Insufficient evidence exists to confirm pathogenicity of this variant.

(3 web hits)

ALOXE3 R396Sinsufficiently evaluated pathogenicunknown

(4 web hits)

ALOXE3 V500Finsufficiently evaluated pathogenicunknown

(5 web hits)

ALOXE3 I515Vinsufficiently evaluated none, f=0.035unknown

(1 web hit)

var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS19704-1100-36-ASM
ALOXE3 R678Cinsufficiently evaluated not reviewed, f=0.001unknown var-GS19735-1100-36-ASM
var-GS19669-1100-36-ASM
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Total results: 11

Gene search

"GENE" or "GENE A123C":

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