GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ARSB R95Qinsufficiently evaluated pathogenicunknown

(4 web hits)

ARSB C117Rinsufficiently evaluated pathogenicunknown

(7 web hits)

ARSB G137Vinsufficiently evaluated pathogenicunknown

(7 web hits)

ARSB Y210Cinsufficiently evaluated pathogenic, f=0.000unknown

(14 web hits)

ARSB L236Pinsufficiently evaluated pathogenicunknown

(15 web hits)

ARSB I350Vinsufficiently evaluated not reviewed, f=0.001unknown
ARSB V358Minsufficiently evaluated none, f=0.320unknown

(16 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000005532
var-GS12004-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS00253-DNA_G01_200_37 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19239-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37
hu728FFF build 36 substitution variants
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
ARSB V376Minsufficiently evaluated none, f=0.136unknown

(12 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_H01 from PGP sample 94797469
var-GS18501-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_F01_200_37
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_A02_200_37 (hom)
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS19026-1100-36-ASM
var-GS06985-1100-36-ASM
ARSB S384Ninsufficiently evaluated not reviewed, f=0.046unknown

(14 web hits)

CGI sample GS000006909
hu232307 build 36 substitution variants
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_C01_200_37
ARSB H393Pinsufficiently evaluated pathogenic, f=0.000unknown

(4 web hits)

ARSB C405Yinsufficiently evaluated pathogenic, f=0.000unknown

(5 web hits)

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Total results: 11

Gene search

"GENE" or "GENE A123C":

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