GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
GALNS D60Ninsufficiently evaluated pathogenicunknown

(6 web hits)

GALNS L67Minsufficiently evaluated none, f=0.112unknown

(2 web hits)

var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
GALNS F69Vinsufficiently evaluated pathogenicunknown

(5 web hits)

GALNS R94Ginsufficiently evaluated pathogenicunknown

(20 web hits)

GALNS I113Finsufficiently evaluated pathogenic, f=0.000unknown

(70 web hits)

GALNS S120Linsufficiently evaluated not reviewed, f=0.005unknown

(1 web hit)

GALNS A138Vinsufficiently evaluated pathogenicunknown

(5 web hits)

GALNS S162Finsufficiently evaluated pathogenicunknown

(16 web hits)

GALNS T200Minsufficiently evaluated none, f=0.053unknown var-GS18501-1100-36-ASM
var-GS19703-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS19026-1100-36-ASM
var-GS18517-1100-36-ASM
GALNS N204Kinsufficiently evaluated pathogenicunknown

(27 web hits)

GALNS W230Xinsufficiently evaluated pathogenicunknown

(3 web hits)

GALNS A231Ginsufficiently evaluated none, f=0.053unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
var-GS19700-1100-36-ASM
CGI sample GS000006909
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_H01_200_37
GALNS R259Qinsufficiently evaluated pathogenicunknown

(16 web hits)

GALNS A291Tinsufficiently evaluated pathogenicunknown

(6 web hits)

GALNS G301Cinsufficiently evaluated pathogenicunknown

(45 web hits)

GALNS T312Sinsufficiently evaluated pathogenicunknown

(47 web hits)

GALNS R386Cinsufficiently evaluated pathogenicunknown

(61 web hits)

GALNS A393Sinsufficiently evaluated none, f=0.047unknown

(1 web hit)

PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS19020-1100-36-ASM
var-GS19735-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS00253-DNA_B01_200_37
var-GS19129-1100-36-ASM
CGI sample GS01175-DNA_B04 from PGP sample 88590671
GALNS A459Vinsufficiently evaluated not reviewed, f=0.037unknown var-GS19025-1100-36-ASM
var-GS18504-1100-36-ASM (hom)
var-GS19703-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18508-1100-36-ASM
GALNS Q473Xinsufficiently evaluated pathogenicunknown

(45 web hits)

GALNS V480Finsufficiently evaluated not reviewed, f=0.006unknown var-GS19025-1100-36-ASM
var-GS18505-1100-36-ASM
GALNS N487Sinsufficiently evaluated pathogenicunknown

(43 web hits)

GALNS V488Minsufficiently evaluated benignrecessive

Mucopolysaccharidosis Type IVA

(6 web hits)

GALNS T509Ainsufficiently evaluated noneunknown
GALNS T509Rinsufficiently evaluated noneunknown
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Total results: 25

Gene search

"GENE" or "GENE A123C":

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