GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
MAPT R5Hinsufficiently evaluated pathogenicunknown

(14 web hits)

MAPT R5Linsufficiently evaluated pathogenicunknown

(52 web hits)

MAPT I108Ninsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
MAPT H147Yinsufficiently evaluated noneunknown
MAPT P202Linsufficiently evaluated not reviewed, f=0.165unknown

(3 web hits)

hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
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 GS00253-DNA_A01_200_37 (hom)
var-GS19648-1100-36-ASM
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
hu728FFF build 36 substitution variants
var-GS06994-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
var-GS20509-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
MAPT Q230Runcertain benign, f=0.042unknown

Common polymorphism.

(1 web hit)

hu34D5B9 exome
CGI sample GS01669-DNA_C05 from PGP sample 42408046
hu232307 build 36 substitution variants
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS10851-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01175-DNA_F02 from PGP sample 95788191
MAPT K257Tinsufficiently evaluated pathogenicunknown

(45 web hits)

MAPT L266Vinsufficiently evaluated pathogenicunknown

(45 web hits)

MAPT G272Vinsufficiently evaluated pathogenicunknown

(89 web hits)

MAPT N279Kinsufficiently evaluated pathogenicunknown

(336 web hits)

MAPT D285Ninsufficiently evaluated not reviewed, f=0.167unknown

(3 web hits)

hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
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
var-GS19648-1100-36-ASM
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
hu728FFF build 36 substitution variants (hom)
var-GS06994-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
var-GS06985-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
MAPT V289Ainsufficiently evaluated not reviewed, f=0.167unknown

(1 web hit)

hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
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
var-GS19648-1100-36-ASM
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
hu728FFF build 36 substitution variants (hom)
var-GS06994-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
var-GS06985-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
MAPT N296Ninsufficiently evaluated pathogenicunknown

(28 web hits)

MAPT P301Linsufficiently evaluated pathogenicunknown

(633 web hits)

MAPT P301Sinsufficiently evaluated pathogenicunknown

(398 web hits)

MAPT G303Vinsufficiently evaluated pathogenicunknown

(30 web hits)

MAPT S305Ninsufficiently evaluated pathogenicunknown

(200 web hits)

MAPT K317Minsufficiently evaluated pathogenicunknown

(85 web hits)

MAPT S318Linsufficiently evaluated none, f=0.060unknown

(3 web hits)

var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
MAPT S320Finsufficiently evaluated pathogenicunknown

(32 web hits)

MAPT V337Minsufficiently evaluated pathogenicunknown

(219 web hits)

MAPT E342Vinsufficiently evaluated pathogenicunknown

(19 web hits)

MAPT S352Linsufficiently evaluated pathogenicunknown

(6 web hits)

MAPT K369Iinsufficiently evaluated pathogenicunknown

(56 web hits)

MAPT R370Wuncertain benign, f=0.156unknown

Probably benign.

(2 web hits)

hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
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 GS00253-DNA_A01_200_37 (hom)
var-GS19648-1100-36-ASM
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS06994-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
var-GS20509-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
MAPT G389Rinsufficiently evaluated pathogenicunknown

(82 web hits)

MAPT R406Winsufficiently evaluated pathogenicunknown

(240 web hits)

MAPT H441Yinsufficiently evaluated not reviewed, f=0.742unknown

(2 web hits)

var-GS19025-1100-36-ASM
hu3215A7 build 36 substitution variants (hom)
var-GS18942-1100-36-ASM (hom)
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
var-GS07357-1100-36-ASM
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM (hom)
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM
var-GS20502-1100-36-ASM
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM (hom)
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM (hom)
var-GS06994-1100-36-ASM (hom)
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
MAPT Y441Hinsufficiently evaluated not reviewed, f=0.178unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
CGI sample GS000006909
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_A02_200_37
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
MAPT S447Pinsufficiently evaluated none, f=0.166unknown

(8 web hits)

hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
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 GS00253-DNA_A01_200_37 (hom)
var-GS19648-1100-36-ASM
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS06994-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
var-GS20509-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
MAPT A495Tinsufficiently evaluated not reviewed, f=0.016unknown var-GS19025-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS18508-1100-36-ASM
MAPT GT539AAinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01175-DNA_D03 from PGP sample 27486199
MAPT G542Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_D06 from PGP sample 69488604
MAPT R544Hinsufficiently evaluated not reviewed, f=0.000unknown var-GS19017-1100-36-ASM
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Total results: 34

Gene search

"GENE" or "GENE A123C":

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