GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
LYST T37Minsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_E01_200_37
LYST R159Kuncertain benign, f=0.008unknown

Rare and unreported, tentatively evaluated as benign. Some severe mutations in this gene cause Chediak-Higashi syndrome (a severe genetic disorder causing albinism, neuropathy, and life-threatening susceptibility to bacterial infections), but this disease is rare and there are many other genomes with rare missense polymorphisms.

CGI sample GS00253-DNA_A01_200_37
LYST L192Vinsufficiently evaluated none, f=0.045unknown var-GS19025-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS18517-1100-36-ASM
LYST D199Einsufficiently evaluated not reviewed, f=0.003unknown

(1 web hit)

LYST D645Ninsufficiently evaluated not reviewedunknown
LYST E1013Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS18537-1100-36-ASM
LYST S1017Ninsufficiently evaluated none, f=0.044unknown

(2 web hits)

var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS18517-1100-36-ASM
LYST T1098Iinsufficiently evaluated not reviewedunknown
LYST S1120Iinsufficiently evaluated not reviewed, f=0.004unknown var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
LYST N1228Sinsufficiently evaluated not reviewed, f=0.002unknown var-GS18508-1100-36-ASM
LYST D1330Ainsufficiently evaluated none, f=0.040unknown

(6 web hits)

var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS18517-1100-36-ASM
LYST R1446Qinsufficiently evaluated not reviewed, f=0.001unknown
LYST I1712Vinsufficiently evaluated not reviewedunknown hu232307 build 36 substitution variants
LYST G1764Ainsufficiently evaluated not reviewed, f=0.004unknown var-GS19017-1100-36-ASM
LYST Q1949Hinsufficiently evaluated not reviewed, f=0.065unknown

(1 web hit)

var-GS19020-1100-36-ASM (hom)
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19129-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18508-1100-36-ASM
LYST T1982Iinsufficiently evaluated not reviewed, f=0.008unknown

(50300000 web hits)

var-GS19834-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
LYST E2161Ainsufficiently evaluated not reviewed, f=0.005unknown hu34D5B9 exome
CGI sample GS00253-DNA_D01_200_37
LYST D2271Ginsufficiently evaluated not reviewed, f=0.006unknown
LYST E2398Kinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B07 from PGP sample 61499538
LYST F2598Yinsufficiently evaluated none, f=0.025unknown var-GS18504-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS18517-1100-36-ASM
LYST S2676Iinsufficiently evaluated not reviewed, f=0.001unknown
LYST E2684Kinsufficiently evaluated not reviewed, f=0.008unknown var-GS10851-1100-36-ASM
LYST G2804Dinsufficiently evaluated none, f=0.041unknown

(7 web hits)

var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS18517-1100-36-ASM
LYST D2939Ninsufficiently evaluated not reviewed, f=0.008unknown var-GS19025-1100-36-ASM
Page: 1 2 3
Total results: 24

Gene search

"GENE" or "GENE A123C":

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