GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
IDUA H33Qinsufficiently evaluated none, f=0.904unknown

(1 web hit)

CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
hu3215A7 build 36 substitution variants (hom)
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS19703-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
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 (hom)
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
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
var-GS18508-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
IDUA Y64Xinsufficiently evaluated pathogenicunknown

(9 web hits)

IDUA Q70Xpathogenic, f=0.001recessive

Causes Hurler syndrome in a recessive manner, a severe disease causing dwarfism, physical, and mental deterioration, and typically lethal by age 10.

(108 web hits)

CGI sample GS01175-DNA_A04 from PGP sample 13272228
IDUA A79Tinsufficiently evaluated none, f=0.010unknown

(3 web hits)

var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM (hom)
IDUA H82Qinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D03 from PGP sample 27486199
IDUA R89Qinsufficiently evaluated pathogenicunknown

(40 web hits)

IDUA R105Qinsufficiently evaluated not reviewed, f=0.140unknown

(17 web hits)

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 GS01669-DNA_F02 from PGP sample 40767107
hu3215A7 build 36 substitution variants
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS000005532 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS00253-DNA_B01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
IDUA G116Rinsufficiently evaluated not reviewed, f=0.003unknown var-GS19017-1100-36-ASM
IDUA A136Tinsufficiently evaluated not reviewed, f=0.000unknown
IDUA S224Pinsufficiently evaluated not reviewed, f=0.016unknown var-GS21767-1100-36-ASM
IDUA L237Finsufficiently evaluated none, f=0.005unknown var-GS19026-1100-36-ASM
IDUA A300Tinsufficiently evaluated pathogenicunknown

(7 web hits)

IDUA S307Finsufficiently evaluated not reviewedunknown
IDUA Q310Xinsufficiently evaluated pathogenicunknown

(1 web hit)

IDUA V322Einsufficiently evaluated none, f=0.002unknown var-GS18517-1100-36-ASM
IDUA A327Pinsufficiently evaluated not reviewed, f=0.000unknown

(6 web hits)

IDUA A344Ginsufficiently evaluated noneunknown
IDUA L346Rinsufficiently evaluated pathogenicunknown

(7 web hits)

IDUA A361Tinsufficiently evaluated not reviewed, f=0.171unknown

(21 web hits)

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 GS01669-DNA_F02 from PGP sample 40767107
hu3215A7 build 36 substitution variants
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS18502-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034
hu728FFF build 36 substitution variants (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18517-1100-36-ASM (hom)
IDUA T364Minsufficiently evaluated pathogenicunknown

(6 web hits)

IDUA T366Pinsufficiently evaluated pathogenicunknown

(7 web hits)

IDUA H378Rinsufficiently evaluated noneunknown
IDUA W402Xinsufficiently evaluated pathogenic, f=0.001unknown

(214 web hits)

IDUA V454Iinsufficiently evaluated none, f=0.110unknown

(10 web hits)

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 GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
IDUA R488Qinsufficiently evaluated noneunknown

(2 web hits)

IDUA L490Pinsufficiently evaluated pathogenicunknown

(9 web hits)

IDUA R492Pinsufficiently evaluated pathogenicunknown

(7 web hits)

IDUA P533Rinsufficiently evaluated pathogenicunknown

(75 web hits)

IDUA R619Ginsufficiently evaluated pathogenicunknown

(8 web hits)

IDUA R621Xinsufficiently evaluated pathogenicunknown

(3 web hits)

Page: 1 2 3
Total results: 30

Gene search

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