GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ITGB3 V14Minsufficiently evaluated not reviewed, f=0.007unknown var-GS19129-1100-36-ASM (hom)
ITGB3 L33Pinsufficiently evaluated pathogenicunknown

(98 web hits)

ITGB3 L59Pinsufficiently evaluated not reviewed, f=0.135unknown

(50 web hits)

hu34D5B9 exome
hu3215A7 build 36 substitution variants
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000005532
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_A01_200_37
var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS19026-1100-36-ASM
ITGB3 L66Rinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D05 from PGP sample 1205491
ITGB3 Q112Rinsufficiently evaluated none, f=0.008unknown var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
ITGB3 L117Winsufficiently evaluated pathogenicunknown

(1 web hit)

ITGB3 D119Yinsufficiently evaluated pathogenicunknown

(1 web hit)

ITGB3 R143Qinsufficiently evaluated pathogenicunknown

(8 web hits)

ITGB3 K163Einsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
ITGB3 R214Qinsufficiently evaluated pathogenicunknown

(1 web hit)

ITGB3 R214Winsufficiently evaluated pathogenicunknown

(3 web hits)

ITGB3 C374Yinsufficiently evaluated pathogenicunknown

(3 web hits)

ITGB3 P407Ainsufficiently evaluated pathogenicunknown

(6 web hits)

ITGB3 S411Finsufficiently evaluated noneunknown

(1 web hit)

ITGB3 R489Qinsufficiently evaluated pathogenicunknown

(3 web hits)

ITGB3 E616Xinsufficiently evaluated pathogenicunknown

(1 web hit)

ITGB3 R724Xinsufficiently evaluated pathogenicunknown

(1 web hit)

ITGB3 S752Pinsufficiently evaluated pathogenicunknown

(4 web hits)

Page: 1 2
Total results: 18

Gene search

"GENE" or "GENE A123C":

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