GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PLEKHG5 V22Minsufficiently evaluated not reviewedunknown
PLEKHG5 V78Minsufficiently evaluated not reviewed, f=0.003unknown
PLEKHG5 V99Minsufficiently evaluated not reviewedunknown
PLEKHG5 T238Sinsufficiently evaluated noneunknown
PLEKHG5 G287Sinsufficiently evaluated not reviewed, f=0.004unknown var-GS19700-1100-36-ASM
PLEKHG5 T294Sinsufficiently evaluated none, f=0.271unknown hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19700-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
CGI sample GS000006909
var-GS19703-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671
var-GS18508-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
PLEKHG5 T315Sinsufficiently evaluated noneunknown
PLEKHG5 A340Vinsufficiently evaluated noneunknown
PLEKHG5 T347Pinsufficiently evaluated not reviewedunknown
PLEKHG5 D366Ninsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
PLEKHG5 A396Vinsufficiently evaluated none, f=0.001unknown var-GS19238-1100-36-ASM
PLEKHG5 T403Pinsufficiently evaluated not reviewedunknown
PLEKHG5 A414Tinsufficiently evaluated noneunknown
PLEKHG5 A417Vinsufficiently evaluated noneunknown
PLEKHG5 T424Pinsufficiently evaluated not reviewedunknown
PLEKHG5 M440Vinsufficiently evaluated noneunknown
PLEKHG5 A470Tinsufficiently evaluated none, f=0.067unknown hu34D5B9 exome
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS12004-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS18502-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM
PLEKHG5 A491Tinsufficiently evaluated noneunknown
PLEKHG5 M496Vinsufficiently evaluated none, f=0.061unknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS19020-1100-36-ASM
var-GS18558-1100-36-ASM
CGI sample GS000006909
var-GS19239-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671
PLEKHG5 M517Vinsufficiently evaluated noneunknown
PLEKHG5 P575Rinsufficiently evaluated not reviewedunknown
PLEKHG5 P631Rinsufficiently evaluated not reviewedunknown
PLEKHG5 F647Sinsufficiently evaluated pathogenicunknown
PLEKHG5 P652Rinsufficiently evaluated not reviewedunknown
PLEKHG5 E773Kinsufficiently evaluated not reviewed, f=0.016unknown var-GS20509-1100-36-ASM (hom)
PLEKHG5 EE778Delinsufficiently evaluated not reviewed, f=0.024unknown var-GS18501-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS19240-1100-36-ASM
var-GS18517-1100-36-ASM
PLEKHG5 E779Delinsufficiently evaluated not reviewed, f=0.024unknown var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
hu34D5B9 exome
var-GS19700-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS18508-1100-36-ASM
PLEKHG5 T797Minsufficiently evaluated not reviewedunknown
PLEKHG5 G810Sinsufficiently evaluated not reviewedunknown
PLEKHG5 T853Minsufficiently evaluated not reviewedunknown
PLEKHG5 G866Sinsufficiently evaluated not reviewed, f=0.049unknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18558-1100-36-ASM
CGI sample GS000006909
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_F01_200_37
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671
PLEKHG5 T874Minsufficiently evaluated not reviewedunknown
PLEKHG5 G887Sinsufficiently evaluated not reviewedunknown
PLEKHG5 R915Hinsufficiently evaluated not reviewed, f=0.025unknown var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
PLEKHG5 Q921Rinsufficiently evaluated not reviewed, f=0.015unknown var-GS19704-1100-36-ASM
PLEKHG5 P976Linsufficiently evaluated not reviewedunknown hu232307 build 36 substitution variants
PLEKHG5 G999Rinsufficiently evaluated not reviewed, f=0.019unknown var-GS21767-1100-36-ASM
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Total results: 37

Gene search

"GENE" or "GENE A123C":

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