GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PINK1 Q115Linsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01669-DNA_D02 from PGP sample 27316983
PINK1 A217Dinsufficiently evaluated pathogenicunknown

(15 web hits)

PINK1 R246Xinsufficiently evaluated pathogenicunknown

(23 web hits)

PINK1 H271Qinsufficiently evaluated pathogenicunknown

(32 web hits)

PINK1 R279Hinsufficiently evaluated pathogenicunknown

(15 web hits)

PINK1 S284Yinsufficiently evaluated not reviewed, f=0.000unknown
PINK1 P305Ainsufficiently evaluated not reviewed, f=0.000unknown
PINK1 G309Dinsufficiently evaluated pathogenicunknown

(253 web hits)

PINK1 T313Minsufficiently evaluated pathogenicunknown

(132 web hits)

PINK1 A340Tinsufficiently evaluated none, f=0.038unknown

(39 web hits)

hu34D5B9 exome
hu3215A7 build 36 substitution variants
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18537-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
var-GS18956-1100-36-ASM (hom)
PINK1 L347Pinsufficiently evaluated pathogenicunknown

(785 web hits)

PINK1 A383Tinsufficiently evaluated none, f=0.000unknown

(10 web hits)

var-GS19240-1100-36-ASM
PINK1 P399Linsufficiently evaluated pathogenicunknown

(11 web hits)

PINK1 Y431Hinsufficiently evaluated pathogenicunknown

(11 web hits)

PINK1 W437Xinsufficiently evaluated pathogenicunknown

(96 web hits)

PINK1 Q456Xinsufficiently evaluated pathogenic, f=0.000unknown

(44 web hits)

PINK1 R501Qinsufficiently evaluated not reviewed, f=0.009unknown var-GS19701-1100-36-ASM
PINK1 N521Tinsufficiently evaluated not reviewed, f=0.269unknown

(17 web hits)

var-GS19025-1100-36-ASM
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909
CGI sample GS000005532
hu232307 build 36 substitution variants
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS18537-1100-36-ASM (hom)
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
hu728FFF build 36 substitution variants
CGI sample GS00253-DNA_A02_200_37
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
Page: 1 2
Total results: 18

Gene search

"GENE" or "GENE A123C":

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