GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CREBBP Q136Xinsufficiently evaluated pathogenicunknown
CREBBP Q357Xinsufficiently evaluated pathogenicunknown
CREBBP L551Iinsufficiently evaluated not reviewed, f=0.009unknown CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS18947-1100-36-ASM
CREBBP S893Linsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B04 from PGP sample 88590671
CREBBP V954Iinsufficiently evaluated noneunknown
CREBBP V992Iinsufficiently evaluated none, f=0.016unknown var-GS19129-1100-36-ASM
CREBBP S1005Linsufficiently evaluated noneunknown
CREBBP S1043Linsufficiently evaluated none, f=0.012unknown

(1 web hit)

var-GS18517-1100-36-ASM
CREBBP Y1175Cinsufficiently evaluated pathogenicunknown

(8 web hits)

CREBBP R1378Pinsufficiently evaluated pathogenicunknown

(6 web hits)

CREBBP P1570Tinsufficiently evaluated noneunknown
CREBBP P1608Tinsufficiently evaluated none, f=0.003unknown var-GS19704-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
CREBBP P1878Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B07 from PGP sample 61499538
CREBBP N1940Iinsufficiently evaluated not reviewedunknown
CREBBP N1978Iinsufficiently evaluated not reviewedunknown
CREBBP Q2022Rinsufficiently evaluated not reviewedunknown CGI sample GS000006909
CREBBP G2229Sinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_F02 from PGP sample 95788191
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Total results: 17

Gene search

"GENE" or "GENE A123C":

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