GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
HPS1 V4Ainsufficiently evaluated none, f=0.034unknown

(2 web hits)

var-GS18504-1100-36-ASM (hom)
CGI sample GS00253-DNA_F01_200_37
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
var-GS18956-1100-36-ASM
HPS1 E9Dinsufficiently evaluated not reviewed, f=0.004unknown

(2 web hits)

HPS1 E133Xinsufficiently evaluated pathogenicunknown

(9 web hits)

HPS1 R260Qinsufficiently evaluated none, f=0.010unknown

(2 web hits)

HPS1 R263Wuncertain benign, f=0.001unknown

Rare, tentatively evaluated as benign. Polyphen 2 predicts a damaging effect and other variants in this gene cause Hermansky-Pudlak Syndrome in a recessive manner, but these are generally more serious mutations (nonsense or frameshift).

CGI sample GS00253-DNA_A02_200_37
HPS1 G283Ainsufficiently evaluated none, f=0.006unknown

(1 web hit)

HPS1 G283Winsufficiently evaluated none, f=0.059unknown

(3 web hits)

CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS10851-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS18505-1100-36-ASM
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS06985-1100-36-ASM
HPS1 G412Vinsufficiently evaluated not reviewedunknown
HPS1 P491Rinsufficiently evaluated none, f=0.096unknown

(12 web hits)

var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS21767-1100-36-ASM (hom)
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM (hom)
var-GS18947-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS18517-1100-36-ASM
HPS1 Q603Rinsufficiently evaluated none, f=0.164unknown

(3 web hits)

var-GS19025-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM (hom)
var-GS10851-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18537-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM (hom)
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18517-1100-36-ASM
HPS1 Q604Rinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_A02_200_37
HPS1 E666Xinsufficiently evaluated pathogenicunknown

(5 web hits)

Page: 1 2
Total results: 12

Gene search

"GENE" or "GENE A123C":

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