GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
FKTN R47Xinsufficiently evaluated pathogenicunknown
FKTN R56Cinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01173-DNA_D06 from PGP sample 69488604
FKTN A114Tinsufficiently evaluated pathogenicunknown

(12 web hits)

FKTN Q116Xinsufficiently evaluated pathogenic, f=0.000unknown

(1 web hit)

FKTN G125Sinsufficiently evaluated pathogenic, f=0.037recessive

This variant was found as a compound heterozygote with a 473-bp deletion in a Spanish individual with Walker-Warburg syndrome

(1 web hit)

var-GS19025-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS19238-1100-36-ASM
FKTN A170Einsufficiently evaluated pathogenicunknown

(2 web hits)

FKTN F176Sinsufficiently evaluated pathogenicunknown

(11 web hits)

FKTN R179Tinsufficiently evaluated pathogenicunknown

(3 web hits)

FKTN R203Qinsufficiently evaluated none, f=0.263unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
FKTN R307Qinsufficiently evaluated pathogenicunknown

(2 web hits)

FKTN Q358Pinsufficiently evaluated pathogenicunknown

(4 web hits)

FKTN Y371Cinsufficiently evaluated pathogenic, f=0.000unknown

(4 web hits)

FKTN T433Ainsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
FKTN N446Duncertain benign, f=0.009unknown

Probably benign.

hu3215A7 build 36 substitution variants
CGI sample GS00253-DNA_C01_200_37
hu728FFF build 36 substitution variants
Page: 1 2
Total results: 14

Gene search

"GENE" or "GENE A123C":

Log in