GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
AGA V12Linsufficiently evaluated not reviewed, f=0.019unknown var-GS20502-1100-36-ASM
var-GS20509-1100-36-ASM
AGA G60Dinsufficiently evaluated pathogenicunknown

(172 web hits)

AGA S72Pinsufficiently evaluated pathogenicunknown

(13 web hits)

AGA A101Vinsufficiently evaluated pathogenicunknown

(3 web hits)

AGA L105Iinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B02 from PGP sample 94378523
AGA T149Sinsufficiently evaluated none, f=0.923unknown

(2 web hits)

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)
var-GS19025-1100-36-ASM (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 (hom)
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)
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM
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
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-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
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
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM (hom)
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
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
AGA C163Sinsufficiently evaluated pathogenicrecessive

This variant is associated with Aspartylglycosaminuria

(29 web hits)

AGA T250Ainsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_D02 from PGP sample 27316983
AGA A251Einsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_D02 from PGP sample 27316983
AGA G302Rinsufficiently evaluated pathogenicunknown

(5 web hits)

AGA C306Rinsufficiently evaluated pathogenicunknown

(5 web hits)

AGA T322Iinsufficiently evaluated none, f=0.005unknown var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
AGAP1 G542Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS19670-1100-36-ASM
AGAP1 V618Iinsufficiently evaluated noneunknown hu728FFF build 36 substitution variants (hom)
AGAP1 V671Iinsufficiently evaluated none, f=0.636unknown CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
hu3215A7 build 36 substitution variants (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS18942-1100-36-ASM
var-GS19020-1100-36-ASM
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
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM (hom)
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
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
var-GS19648-1100-36-ASM
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 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
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_A07 from PGP sample 96240009
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
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
AGAP1 V688Iinsufficiently evaluated not reviewed, f=0.000unknown var-GS19704-1100-36-ASM
AGAP1 R745Qinsufficiently evaluated not reviewedunknown
AGAP1 R798Qinsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS00253-DNA_E01_200_37
AGAP11 H11Pinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
AGAP11 I82Vinsufficiently evaluated none, f=0.736unknown 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 (hom)
hu34D5B9 exome
hu3215A7 build 36 substitution variants (hom)
var-GS18942-1100-36-ASM (hom)
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
CGI sample GS000005532
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
var-GS10851-1100-36-ASM
var-GS19834-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS00253-DNA_B02_200_37 (hom)
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
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM (hom)
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
AGAP11 S320Ainsufficiently evaluated not reviewed, f=0.023unknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01173-DNA_D06 from PGP sample 69488604
AGAP11 R432Ginsufficiently evaluated not reviewed, f=0.024unknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01173-DNA_D06 from PGP sample 69488604
AGAP2 V8Iinsufficiently evaluated not reviewedunknown
AGAP2 E61Ginsufficiently evaluated noneunknown
AGAP2 E102Qinsufficiently evaluated noneunknown

(3 web hits)

AGAP2 A159Ginsufficiently evaluated noneunknown
AGAP2 S175Ninsufficiently evaluated not reviewedunknown CGI sample GS000006909
AGAP2 G201Sinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_G01_200_37
AGAP2 L381Minsufficiently evaluated not reviewed, f=0.007unknown var-GS19834-1100-36-ASM
var-GS18505-1100-36-ASM
AGAP2 E397Ginsufficiently evaluated noneunknown
AGAP2 E438Qinsufficiently evaluated none, f=0.003unknown

(3 web hits)

AGAP2 I750Minsufficiently evaluated noneunknown
AGAP2 A813Tinsufficiently evaluated not reviewedunknown
AGAP2 I1106Minsufficiently evaluated none, f=0.009unknown var-GS18517-1100-36-ASM
AGAP2 A1169Tinsufficiently evaluated not reviewed, f=0.012unknown
AGAP3 A27Tinsufficiently evaluated noneunknown
AGAP3 P890Linsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
AGAP3 P900Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS19834-1100-36-ASM
AGAP3 R906Hinsufficiently evaluated not reviewed, f=0.000unknown var-GS18526-1100-36-ASM
AGAP4 K181Ninsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D05 from PGP sample 1205491
AGAP4 T334Sinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
AGAP4 S363Iinsufficiently evaluated not reviewed, f=0.044unknown hu232307 build 36 substitution variants
AGAP4 K440Einsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
AGAP4 R484Hinsufficiently evaluated not reviewedunknown hu34D5B9 exome
AGAP5 C8Rinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS01173-DNA_B07 from PGP sample 61499538
AGAP5 I67Tinsufficiently evaluated not reviewedunknown
AGAP5 E136Kinsufficiently evaluated noneunknown
AGAP5 Y482Cinsufficiently evaluated noneunknown hu34D5B9 exome (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
AGAP5 R507Hinsufficiently evaluated noneunknown
AGAP6 R37Ginsufficiently evaluated not reviewedunknown hu232307 build 36 substitution variants
AGAP6 R70Qinsufficiently evaluated not reviewedunknown hu34D5B9 exome
hu232307 build 36 substitution variants
AGAP6 K264Shiftinsufficiently evaluated not reviewedunknown hu34D5B9 exome
AGAP7 M225Vinsufficiently evaluated none, f=0.934unknown hu3215A7 build 36 substitution variants (hom)
hu728FFF build 36 substitution variants (hom)
AGAP7 R269Qinsufficiently evaluated none, f=0.376unknown hu34D5B9 exome
hu728FFF build 36 substitution variants
AGAP7 Y302Ninsufficiently evaluated not reviewed, f=0.983unknown CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
hu34D5B9 exome (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
hu232307 build 36 substitution variants (hom)
CGI sample GS00253-DNA_G01_200_37 (hom)
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_D01_200_37 (hom)
AGAP7 L327Sinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
AGAP7 T362Ninsufficiently evaluated none, f=0.003unknown
AGAP7 P364Ainsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01175-DNA_D01 from PGP sample 31286272
AGAP7 E440Kinsufficiently evaluated not reviewed, f=0.117unknown CGI sample GS000006909
AGAP7 T488Ninsufficiently evaluated not reviewed, f=0.020unknown hu232307 build 36 substitution variants
AGAP7 D600Einsufficiently evaluated not reviewed, f=0.397unknown hu3215A7 build 36 substitution variants (hom)
hu34D5B9 exome (hom)
AGAP8 I168Tinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS01175-DNA_F02 from PGP sample 95788191
AGAP8 L420Vinsufficiently evaluated not reviewedunknown hu34D5B9 exome
AGAP8 R492Hinsufficiently evaluated none, f=0.062unknown
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Total results: 64

Gene search

"GENE" or "GENE A123C":

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