GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
BEST1 T6Pinsufficiently evaluated pathogenicunknown

(463 web hits)

BEST1 V9Minsufficiently evaluated pathogenicunknown

(146 web hits)

BEST1 Y29Xinsufficiently evaluated pathogenicunknown

(8 web hits)

BEST1 L41Pinsufficiently evaluated pathogenic, f=0.000unknown

(11 web hits)

BEST1 R47Hinsufficiently evaluated pathogenicunknown

(5 web hits)

BEST1 Y85Hinsufficiently evaluated pathogenicunknown

(17 web hits)

BEST1 V86Minsufficiently evaluated pathogenicunknown

(8 web hits)

BEST1 W93Cinsufficiently evaluated pathogenicunknown

(82 web hits)

BEST1 E119Qinsufficiently evaluated pathogenicunknown

(10 web hits)

BEST1 R141Hinsufficiently evaluated pathogenic, f=0.000unknown

(16 web hits)

BEST1 A146Kinsufficiently evaluated pathogenicunknown

(22 web hits)

BEST1 L147Iinsufficiently evaluated noneunknown
BEST1 Q170Xinsufficiently evaluated not reviewed, f=0.008unknown var-GS19735-1100-36-ASM
BEST1 S192Xinsufficiently evaluated not reviewedunknown
BEST1 M193Linsufficiently evaluated not reviewedunknown
BEST1 K194Ninsufficiently evaluated not reviewedunknown
BEST1 R200Xinsufficiently evaluated pathogenicunknown

(7 web hits)

BEST1 L207Iinsufficiently evaluated none, f=0.019unknown

(2 web hits)

var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS18517-1100-36-ASM
BEST1 Y227Ninsufficiently evaluated pathogenicunknown

(16 web hits)

BEST1 Y236Cinsufficiently evaluated pathogenicunknown

(11 web hits)

BEST1 V239Minsufficiently evaluated pathogenicunknown

(8 web hits)

BEST1 A243Vinsufficiently evaluated pathogenicunknown

(59 web hits)

BEST1 Y245Xinsufficiently evaluated not reviewedunknown
BEST1 G299Einsufficiently evaluated pathogenicunknown

(28 web hits)

BEST1 V317Minsufficiently evaluated pathogenicunknown

(7 web hits)

BEST1 A357Vinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
BEST1 V432Iinsufficiently evaluated not reviewedunknown
BEST1 V492Iinsufficiently evaluated not reviewed, f=0.010unknown
BEST1 A541Sinsufficiently evaluated not reviewedunknown
BEST1 S583Pinsufficiently evaluated noneunknown
Page: 1 2 3
Total results: 30

Gene search

"GENE" or "GENE A123C":

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