GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PEX5 L88Qinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_B02_200_37
PEX5 Q223Rinsufficiently evaluated not reviewedunknown
PEX5 M235Tinsufficiently evaluated noneunknown
PEX5 Q260Rinsufficiently evaluated not reviewedunknown
PEX5 M272Tinsufficiently evaluated none, f=0.021unknown CGI sample GS00253-DNA_B02_200_37
var-GS19129-1100-36-ASM
var-GS06985-1100-36-ASM
PEX5 Q275Rinsufficiently evaluated not reviewedunknown
PEX5 M287Tinsufficiently evaluated noneunknown
PEX5 R296Hinsufficiently evaluated noneunknown
PEX5 R325Hinsufficiently evaluated none, f=0.009unknown var-GS18517-1100-36-ASM
PEX5 R333Hinsufficiently evaluated noneunknown
PEX5 R348Hinsufficiently evaluated noneunknown
PEX5 R390Xinsufficiently evaluated pathogenicunknown

(15 web hits)

PEX5 N489Kinsufficiently evaluated pathogenicunknown

(25 web hits)

PEX5 D616Ninsufficiently evaluated not reviewed, f=0.008unknown var-GS18537-1100-36-ASM
PEX5L Q173Hinsufficiently evaluated not reviewed, f=0.016unknown var-GS18504-1100-36-ASM
var-GS18505-1100-36-ASM
PEX5L H583Dinsufficiently evaluated not reviewedunknown
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Total results: 16

Gene search

"GENE" or "GENE A123C":

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