GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ALPL A16Vinsufficiently evaluated pathogenicunknown

(1 web hit)

ALPL R54Cinsufficiently evaluated pathogenicunknown

(17 web hits)

ALPL R54Pinsufficiently evaluated pathogenicunknown

(10 web hits)

ALPL R75Hinsufficiently evaluated not reviewedunknown
ALPL P91Linsufficiently evaluated pathogenicunknown

(9 web hits)

ALPL R97Hinsufficiently evaluated not reviewedunknown
ALPL A99Tinsufficiently evaluated pathogenicunknown

(14 web hits)

ALPL R119Hinsufficiently evaluated pathogenicunknown

(42 web hits)

ALPL G145Vinsufficiently evaluated pathogenicunknown

(36 web hits)

ALPL R152Hinsufficiently evaluated not reviewed, f=0.011unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491
ALPL A162Tinsufficiently evaluated pathogenicunknown

(7 web hits)

ALPL E174Kinsufficiently evaluated pathogenicrecessive

This variant is associated with Hypophosphatasia

(25 web hits)

ALPL A176Tinsufficiently evaluated pathogenicunknown

(3 web hits)

ALPL Y186Hinsufficiently evaluated not reviewedunknown
ALPL Q190Pinsufficiently evaluated pathogenicunknown

(5 web hits)

ALPL Y208Hinsufficiently evaluated not reviewedunknown
ALPL G232Vinsufficiently evaluated pathogenicunknown

(9 web hits)

ALPL Y263Hinsufficiently evaluated none, f=0.163unknown

(10 web hits)

var-GS19025-1100-36-ASM
var-GS19020-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS000005532
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS19701-1100-36-ASM
var-GS19834-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS18537-1100-36-ASM
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18947-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS18508-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
ALPL R272Cinsufficiently evaluated pathogenicunknown

(4 web hits)

ALPL D277Ainsufficiently evaluated pathogenicunknown

(9 web hits)

ALPL H281Shiftinsufficiently evaluated not reviewedunknown CGI sample GS000006909
ALPL E281Kinsufficiently evaluated pathogenicunknown

(3 web hits)

ALPL E298Kpathogenicrecessive

Proposed to cause infantile hypophosphatasia in a recessive manner. This comes from a case study reported by Orimo et al 1994 (PMID: 7833929) and is recorded in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000014657/).

ALPL F310Linsufficiently evaluated pathogenicrecessive

This variant is associated with Hypophosphatasia

(14 web hits)

ALPL G317Dinsufficiently evaluated pathogenicrecessive

Variant is associated with Hypophosphatasia

(12 web hits)

ALPL D361Vinsufficiently evaluated not reviewedunknown

(11 web hits)

ALPL D378Vinsufficiently evaluated pathogenicunknown

(4 web hits)

ALPL N400Sinsufficiently evaluated pathogenicunknown

(17 web hits)

ALPL Y419Hinsufficiently evaluated pathogenicunknown

(1 web hit)

ALPL G439Rinsufficiently evaluated pathogenicunknown

(4 web hits)

ALPL V445Ainsufficiently evaluated not reviewedunknown
ALPL V461Iinsufficiently evaluated not reviewed, f=0.008unknown

(1 web hit)

ALPL V467Ainsufficiently evaluated not reviewedunknown
ALPL L506Iinsufficiently evaluated not reviewed, f=0.009unknown var-GS07357-1100-36-ASM
ALPL G509Vinsufficiently evaluated noneunknown
ALPL V522Ainsufficiently evaluated not reviewed, f=0.075unknown var-GS19735-1100-36-ASM
var-GS07357-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
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Total results: 36

Gene search

"GENE" or "GENE A123C":

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