GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
GBA K13Rinsufficiently evaluated not reviewed, f=0.025unknown var-GS19703-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19239-1100-36-ASM
GBA V15Linsufficiently evaluated pathogenicunknown

(27 web hits)

GBA G46Einsufficiently evaluated pathogenicunknown

(32 web hits)

GBA D63Einsufficiently evaluated not reviewedunknown
GBA F76Linsufficiently evaluated not reviewedunknown
GBA W76Rinsufficiently evaluated not reviewed, f=0.040unknown var-GS19700-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18537-1100-36-ASM (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS18517-1100-36-ASM
GBA K79Ninsufficiently evaluated pathogenicunknown

(18 web hits)

GBA R119Qinsufficiently evaluated pathogenicunknown

(6 web hits)

GBA P122Sinsufficiently evaluated pathogenicunknown

(4 web hits)

GBA R131Linsufficiently evaluated pathogenicunknown

(12 web hits)

GBA R140Winsufficiently evaluated not reviewed, f=0.357unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01175-DNA_H01 from PGP sample 94797469
var-GS18942-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS07357-1100-36-ASM
var-GS12004-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
var-GS19701-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
GBA K144Rinsufficiently evaluated not reviewed, f=0.619unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532
var-GS19703-1100-36-ASM (hom)
var-GS12004-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM (hom)
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
GBA K157Qinsufficiently evaluated pathogenicunknown

(8 web hits)

GBA Q182Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS19129-1100-36-ASM
GBA N188Sinsufficiently evaluated pathogenicunknown

(63 web hits)

GBA L197Winsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_E01_200_37
GBA Y212Hinsufficiently evaluated pathogenicunknown

(3 web hits)

GBA F213Iinsufficiently evaluated pathogenicunknown

(56 web hits)

GBA F216Vinsufficiently evaluated pathogenicunknown
GBA F216Yinsufficiently evaluated pathogenicunknown

(12 web hits)

GBA F251Linsufficiently evaluated pathogenicunknown

(9 web hits)

GBA R257Einsufficiently evaluated pathogenicunknown

(1 web hit)

GBA P289Linsufficiently evaluated pathogenicunknown

(8 web hits)

GBA A309Vinsufficiently evaluated pathogenicunknown

(2 web hits)

GBA H310Dinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B04 from PGP sample 88590671
GBA H311Rinsufficiently evaluated pathogenicunknown

(8 web hits)

GBA W312Cinsufficiently evaluated pathogenicunknown

(4 web hits)

GBA Y323Iinsufficiently evaluated pathogenicunknown

(1 web hit)

GBA G325Rinsufficiently evaluated pathogenicunknown

(5 web hits)

GBA C342Ginsufficiently evaluated pathogenicunknown

(4 web hits)

GBA P345Linsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D03 from PGP sample 27486199
GBA R353Ginsufficiently evaluated pathogenicunknown

(4 web hits)

GBA R359Xinsufficiently evaluated pathogenicunknown

(9 web hits)

GBA S364Tinsufficiently evaluated pathogenicunknown

(3 web hits)

GBA E365Kinsufficiently evaluated none, f=0.009unknown

(1 web hit)

GBA N370Sinsufficiently evaluated pathogenicrecessive

Gaucher’s Disease

(956 web hits)

GBA L371Vinsufficiently evaluated pathogenicunknown

(7 web hits)

GBA G377Sinsufficiently evaluated pathogenicunknown

(155 web hits)

GBA V394Linsufficiently evaluated pathogenicrecessive

Gaucher Disease

(201 web hits)

GBA V398Finsufficiently evaluated pathogenicunknown

(4 web hits)

GBA P401Linsufficiently evaluated pathogenicunknown

(2 web hits)

GBA T408Minsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B07 from PGP sample 61499538
GBA D409Hinsufficiently evaluated pathogenicunknown

(355 web hits)

GBA D409Vinsufficiently evaluated pathogenicunknown

(35 web hits)

GBA P415Rinsufficiently evaluated pathogenicunknown

(12 web hits)

GBA L444Pinsufficiently evaluated pathogenicunknown

(812 web hits)

GBA R463Cinsufficiently evaluated pathogenicunknown

(85 web hits)

GBA R463Hinsufficiently evaluated not reviewedunknown

(15 web hits)

GBA G478Sinsufficiently evaluated pathogenicunknown

(1 web hit)

GBA D482Ninsufficiently evaluated none, f=0.002unknown var-GS18517-1100-36-ASM
GBA L483Ppathogenicrecessive

Causes Gaucher’s disease, a recessive disorder whose symptoms include anemia, bruising, bone lesions, and spleen and liver issues. Reported to ClinVar by OMIM and Emory Genetics Laboratory (http://www.ncbi.nlm.nih.gov/clinvar/RCV000004509/), numerous publications cite this variant as causing the disease.

GBA A495Pinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01173-DNA_F02 from PGP sample 70008981
GBA R496Hinsufficiently evaluated pathogenicrecessive

Gaucher Disease

(148 web hits)

GBA2 G316Rinsufficiently evaluated none, f=0.008unknown CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
GBA2 R401Qinsufficiently evaluated not reviewedunknown
GBA2 G423Sinsufficiently evaluated not reviewed, f=0.016unknown var-GS19704-1100-36-ASM
GBA2 A453Einsufficiently evaluated noneunknown
GBA3 T126Ainsufficiently evaluated not reviewed, f=0.002unknown
GBA3 X149Yinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
GBA3 M172Iinsufficiently evaluated none, f=0.033unknown

(5 web hits)

var-GS18504-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS19129-1100-36-ASM
var-GS18508-1100-36-ASM (hom)
GBA3 R213Pinsufficiently evaluated not reviewed, f=0.020unknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS00253-DNA_C01_200_37
GBA3 I260Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS18940-1100-36-ASM
GBA3 F303Hinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
GBA3 N319Shiftinsufficiently evaluated not reviewed, f=0.008unknown
GBA3 I332Tinsufficiently evaluated not reviewed, f=0.009unknown var-GS18942-1100-36-ASM
GBA3 C354Rinsufficiently evaluated none, f=0.033unknown var-GS18504-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS18508-1100-36-ASM (hom)
GBA3 A382Vinsufficiently evaluated not reviewed, f=0.001unknown var-GS10851-1100-36-ASM
GBA3 X456Yinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
GBAS N142Sinsufficiently evaluated not reviewed, f=0.004unknown var-GS19700-1100-36-ASM
GBAS L236Finsufficiently evaluated not reviewedunknown
GBAS E260Vinsufficiently evaluated not reviewedunknown
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Total results: 71

Gene search

"GENE" or "GENE A123C":

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