GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
BSCL2 D20Einsufficiently evaluated not reviewed, f=0.029unknown var-GS19700-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19017-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS18505-1100-36-ASM
var-GS19026-1100-36-ASM
BSCL2 N88Sinsufficiently evaluated pathogenicunknown

(143 web hits)

BSCL2 S90Linsufficiently evaluated pathogenicunknown

(84 web hits)

BSCL2 R138Xinsufficiently evaluated pathogenicunknown

(4 web hits)

BSCL2 E189Xinsufficiently evaluated pathogenicunknown

(62 web hits)

BSCL2 A212Pinsufficiently evaluated pathogenicunknown

(24 web hits)

BSCL2 R275Xinsufficiently evaluated pathogenicunknown

(11 web hits)

Total results: 7

Gene search

"GENE" or "GENE A123C":

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