GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
KCNQ2 R207Qinsufficiently evaluated pathogenicunknown

(21 web hits)

KCNQ2 R207Winsufficiently evaluated pathogenicunknown

(67 web hits)

KCNQ2 R214Winsufficiently evaluated pathogenicunknown

(51 web hits)

KCNQ2 S247Winsufficiently evaluated pathogenicunknown

(7 web hits)

KCNQ2 Y284Cinsufficiently evaluated pathogenicunknown

(42 web hits)

KCNQ2 A306Tinsufficiently evaluated pathogenicunknown

(53 web hits)

KCNQ2 E515Dinsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS18947-1100-36-ASM
KCNQ2 K526Ninsufficiently evaluated pathogenicunknown

(9 web hits)

KCNQ2 N749Tinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
KCNQ2 N752Tinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
KCNQ2 N762Tinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
KCNQ2 N780Tinsufficiently evaluated not reviewed, f=0.597unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
var-GS07357-1100-36-ASM (hom)
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS19649-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
CGI sample GS00253-DNA_D01_200_37
hu728FFF build 36 substitution variants (hom)
var-GS18505-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
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Total results: 12

Gene search

"GENE" or "GENE A123C":

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