GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
HLCS E42Dinsufficiently evaluated none, f=0.039unknown

(5 web hits)

var-GS19700-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
var-GS19017-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS18956-1100-36-ASM
HLCS R76Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_D06 from PGP sample 69488604
HLCS V96Iinsufficiently evaluated none, f=0.040unknown var-GS19700-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
var-GS19017-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS18956-1100-36-ASM
HLCS T158Minsufficiently evaluated not reviewed, f=0.002unknown
HLCS L216Rinsufficiently evaluated pathogenicunknown

(10 web hits)

HLCS L237Pinsufficiently evaluated pathogenicunknown

(9 web hits)

HLCS R480Cinsufficiently evaluated not reviewedunknown
HLCS R508Winsufficiently evaluated pathogenicunknown

(38 web hits)

HLCS G510Rinsufficiently evaluated not reviewed, f=0.006unknown var-GS19703-1100-36-ASM
HLCS V550Minsufficiently evaluated pathogenicunknown

(15 web hits)

HLCS E558Kinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B02 from PGP sample 94378523
HLCS D571Ninsufficiently evaluated pathogenicunknown

(2 web hits)

HLCS G581Sinsufficiently evaluated pathogenicunknown

(9 web hits)

HLCS V641Minsufficiently evaluated not reviewed, f=0.003unknown CGI sample GS00253-DNA_B01_200_37
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Total results: 14

Gene search

"GENE" or "GENE A123C":

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