GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
IQCB1 F142Linsufficiently evaluated not reviewed, f=0.013unknown var-GS19700-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
IQCB1 M186Vinsufficiently evaluated not reviewedunknown
IQCB1 I260Ninsufficiently evaluated noneunknown

(1 web hit)

hu728FFF build 36 substitution variants
IQCB1 C301Yinsufficiently evaluated noneunknown

(14 web hits)

hu728FFF build 36 substitution variants
IQCB1 Q357Xinsufficiently evaluated pathogenicunknown

(1 web hit)

IQCB1 I393Ninsufficiently evaluated none, f=0.096unknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS19701-1100-36-ASM
var-GS19834-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
var-GS20502-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
hu728FFF build 36 substitution variants
CGI sample GS01175-DNA_B04 from PGP sample 88590671
IQCB1 C434Yinsufficiently evaluated none, f=0.235unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM
hu34D5B9 exome
hu3215A7 build 36 substitution variants
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532
var-GS19703-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS19649-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37 (hom)
CGI sample GS00253-DNA_D01_200_37
hu728FFF build 36 substitution variants
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
IQCB1 R461Xinsufficiently evaluated pathogenicunknown

(9 web hits)

IQCB1 R502Qinsufficiently evaluated not reviewed, f=0.008unknown var-GS19669-1100-36-ASM
Total results: 9

Gene search

"GENE" or "GENE A123C":

Log in