GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
LIPA T16Pinsufficiently evaluated none, f=0.241unknown

(18 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome (hom)
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
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS18502-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS18526-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM
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
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS06985-1100-36-ASM (hom)
var-GS18517-1100-36-ASM
LIPA Y22Xinsufficiently evaluated pathogenicunknown
LIPA G23Rinsufficiently evaluated not reviewed, f=0.148unknown

(2 web hits)

CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS000005532
var-GS19701-1100-36-ASM
var-GS19834-1100-36-ASM
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS19238-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM
LIPA L179Pinsufficiently evaluated pathogenicunknown

(15 web hits)

LIPA T337Ainsufficiently evaluated not reviewed, f=0.008unknown var-GS18947-1100-36-ASM
Total results: 5

Gene search

"GENE" or "GENE A123C":

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