GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ALG1 M112Linsufficiently evaluated not reviewed, f=0.013unknown var-GS19703-1100-36-ASM
var-GS19239-1100-36-ASM
ALG1 S150Rinsufficiently evaluated pathogenicunknown

(18 web hits)

ALG1 F185Cinsufficiently evaluated not reviewed, f=0.014unknown var-GS19703-1100-36-ASM
var-GS19239-1100-36-ASM
ALG1 S258Linsufficiently evaluated pathogenic, f=0.000unknown

(43 web hits)

ALG1 T261Minsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
ALG1 S267Ninsufficiently evaluated none, f=0.061unknown

(3 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS000006909
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_B02_200_37
var-GS18526-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS18956-1100-36-ASM
ALG1 E342Pinsufficiently evaluated pathogenicunknown

(24 web hits)

ALG1 A391Vinsufficiently evaluated noneunknown
ALG1 D429Einsufficiently evaluated none, f=0.117unknown

(15 web hits)

CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
var-GS21767-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS18505-1100-36-ASM
ALG10 S10Linsufficiently evaluated not reviewedunknown
ALG10 I76Sinsufficiently evaluated not reviewed, f=0.002unknown var-GS19017-1100-36-ASM
ALG10 C116Hinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B07 from PGP sample 61499538
ALG10 V269Iinsufficiently evaluated not reviewed, f=0.006unknown var-GS18502-1100-36-ASM
ALG10 S392Pinsufficiently evaluated not reviewed, f=0.009unknown CGI sample GS01175-DNA_D01 from PGP sample 31286272
ALG10 P430Tinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
ALG10B A26Pinsufficiently evaluated not reviewedunknown hu34D5B9 exome
ALG10B A84Ginsufficiently evaluated none, f=0.964unknown CGI sample GS00253-DNA_E01_200_37 (hom)
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 (hom)
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-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-GS07357-1100-36-ASM (hom)
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants (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 (hom)
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37 (hom)
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-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
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 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
ALG10B A202Vinsufficiently evaluated not reviewedunknown
ALG10B K216Ninsufficiently evaluated not reviewed, f=0.000unknown var-GS19669-1100-36-ASM
ALG10B L306Vinsufficiently evaluated not reviewed, f=0.001unknown CGI sample GS00253-DNA_B02_200_37
ALG10B I368Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS19669-1100-36-ASM
ALG10B S383Ninsufficiently evaluated none, f=0.008unknown var-GS19129-1100-36-ASM
ALG10B I446Vinsufficiently evaluated not reviewed, f=0.014unknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19649-1100-36-ASM
ALG10B S465Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS19025-1100-36-ASM
ALG11 L35Vinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
ALG11 N58Iinsufficiently evaluated not reviewed, f=0.004unknown var-GS19020-1100-36-ASM
ALG11 N108Sinsufficiently evaluated not reviewed, f=0.009unknown var-GS19020-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS000006909
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM
ALG11 I112Vinsufficiently evaluated not reviewedunknown
ALG11 G160Sinsufficiently evaluated not reviewedunknown
ALG12 D56Ninsufficiently evaluated not reviewed, f=0.008unknown var-GS18537-1100-36-ASM
ALG12 T61Minsufficiently evaluated pathogenicunknown

(16 web hits)

ALG12 G101Rinsufficiently evaluated pathogenicunknown

(7 web hits)

ALG12 R120Qinsufficiently evaluated not reviewed, f=0.002unknown var-GS12004-1100-36-ASM
ALG12 F142Vinsufficiently evaluated pathogenicunknown

(9 web hits)

ALG12 R146Qinsufficiently evaluated pathogenic, f=0.000unknown

(26 web hits)

ALG12 L158Pinsufficiently evaluated pathogenicunknown

(2 web hits)

ALG12 R211Cinsufficiently evaluated not reviewed, f=0.004unknown var-GS18537-1100-36-ASM
var-GS18940-1100-36-ASM
ALG12 R233Qinsufficiently evaluated not reviewed, f=0.006unknown var-GS18501-1100-36-ASM
ALG12 I393Vinsufficiently evaluated not reviewed, f=0.090unknown hu34D5B9 exome
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19648-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS19669-1100-36-ASM
ALG12 Y414Xinsufficiently evaluated pathogenicunknown

(1 web hit)

ALG14 D87Ginsufficiently evaluated not reviewedunknown
ALG1L M7Linsufficiently evaluated none, f=0.011unknown

(1 web hit)

var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
ALG1L L9Pinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
ALG1L Q37Hinsufficiently evaluated noneunknown
ALG1L G42Rinsufficiently evaluated noneunknown
ALG1L I52Rinsufficiently evaluated not reviewed, f=0.008unknown var-GS18942-1100-36-ASM
ALG1L T53Iinsufficiently evaluated none, f=0.017unknown var-GS19700-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
ALG1L S65Finsufficiently evaluated not reviewed, f=0.009unknown var-GS19239-1100-36-ASM
ALG1L V85Ainsufficiently evaluated not reviewed, f=0.007unknown var-GS19239-1100-36-ASM
ALG1L V88Minsufficiently evaluated not reviewed, f=0.037unknown var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19129-1100-36-ASM
ALG1L N135Dinsufficiently evaluated none, f=0.318unknown 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
var-GS19025-1100-36-ASM
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM (hom)
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
hu34D5B9 exome
var-GS18504-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS00253-DNA_G01_200_37
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
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 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
ALG1L S139Linsufficiently evaluated none, f=0.259unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu3215A7 build 36 substitution variants
CGI sample GS01173-DNA_F02 from PGP sample 70008981
hu34D5B9 exome
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
var-GS19701-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS19834-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18517-1100-36-ASM
ALG1L N155Dinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
ALG1L IQ159TXinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
ALG1L I159Tinsufficiently evaluated none, f=0.228unknown hu34D5B9 exome
hu232307 build 36 substitution variants
var-GS18502-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
hu728FFF build 36 substitution variants
ALG1L S159Linsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
ALG1L R169Winsufficiently evaluated not reviewed, f=0.001unknown
ALG1L I179Tinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
ALG1L G184Sinsufficiently evaluated none, f=0.252unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
hu34D5B9 exome
hu3215A7 build 36 substitution variants
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18501-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM (hom)
var-GS19834-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS20509-1100-36-ASM
var-GS18517-1100-36-ASM
ALG1L G204Sinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
ALG1L2 D25Einsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
ALG1L2 P40Linsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01173-DNA_B02 from PGP sample 94378523
ALG1L2 R54Qinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
ALG1L2 T84Ainsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B07 from PGP sample 61499538
ALG1L2 L157Shiftinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS000006909 (hom)
CGI sample GS000005532 (hom)
CGI sample GS00253-DNA_G01_200_37
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS00253-DNA_A02_200_37 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
Page: 1 2 3 4 5 6 7
Total results: 65

Gene search

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