GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ATXN3 V33Minsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
ATXN3 V91Minsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
ATXN3 V142Minsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
ATXN3 V146Minsufficiently evaluated noneunknown
ATXN3 D151Vinsufficiently evaluated noneunknown
ATXN3 V157Minsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
ATXN3 V161Minsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
ATXN3 D162Vinsufficiently evaluated noneunknown
ATXN3 E195Kinsufficiently evaluated not reviewed, f=0.000unknown var-GS06994-1100-36-ASM
ATXN3 V197Minsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
ATXN3 D202Vinsufficiently evaluated noneunknown
ATXN3 V212Minsufficiently evaluated not reviewed, f=0.276unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
var-GS18942-1100-36-ASM
var-GS19020-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM (hom)
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532
hu232307 build 36 substitution variants
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS21767-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
ATXN3 D217Vinsufficiently evaluated none, f=0.008unknown var-GS19129-1100-36-ASM
ATXN3 G240Rinsufficiently evaluated noneunknown

(5 web hits)

ATXN3 G251Rinsufficiently evaluated noneunknown

(1 web hit)

ATXN3 G291Rinsufficiently evaluated noneunknown

(1 web hit)

ATXN3 Q305QQQQQQinsufficiently evaluated not reviewedunknown hu34D5B9 exome (hom)
ATXN3 G306Rinsufficiently evaluated none, f=0.160unknown

(1 web hit)

var-GS18558-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
var-GS18956-1100-36-ASM
ATXN3L G332Dinsufficiently evaluated none, f=0.473unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants (hom)
var-GS18942-1100-36-ASM (hom)
var-GS19020-1100-36-ASM (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM (hom)
CGI sample GS000006909 (hom)
var-GS07357-1100-36-ASM (hom)
var-GS19703-1100-36-ASM (hom)
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS18537-1100-36-ASM
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM (hom)
var-GS18526-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
Page: 1 2
Total results: 19

Gene search

"GENE" or "GENE A123C":

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