GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ASPM A75Tinsufficiently evaluated not reviewed, f=0.010unknown var-GS19703-1100-36-ASM
ASPM K78Rinsufficiently evaluated not reviewedunknown
ASPM R117Xinsufficiently evaluated pathogenicunknown

(2 web hits)

ASPM E215Ainsufficiently evaluated not reviewed, f=0.008unknown var-GS19026-1100-36-ASM
ASPM E216Kinsufficiently evaluated not reviewed, f=0.001unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS00253-DNA_F01_200_37
ASPM N282Hinsufficiently evaluated not reviewed, f=0.000unknown
ASPM C302Yinsufficiently evaluated not reviewed, f=0.000unknown
ASPM S311Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS19649-1100-36-ASM
ASPM T336Kinsufficiently evaluated not reviewed, f=0.000unknown
ASPM E385Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS19669-1100-36-ASM
ASPM R430Ginsufficiently evaluated none, f=0.013unknown

(1 web hit)

var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19238-1100-36-ASM
ASPM Y462Cinsufficiently evaluated not reviewed, f=0.001unknown var-GS19026-1100-36-ASM
ASPM N484Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS19026-1100-36-ASM
ASPM D578Ninsufficiently evaluated none, f=0.000unknown var-GS18956-1100-36-ASM
ASPM S650Cinsufficiently evaluated not reviewed, f=0.000unknown
ASPM A663Sinsufficiently evaluated not reviewed, f=0.006unknown
ASPM F684Linsufficiently evaluated not reviewedunknown
ASPM I740Linsufficiently evaluated not reviewed, f=0.008unknown var-GS19026-1100-36-ASM
ASPM S1090Finsufficiently evaluated not reviewed, f=0.050unknown

(1 web hit)

var-GS19025-1100-36-ASM
hu3215A7 build 36 substitution variants
var-GS19700-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19648-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18517-1100-36-ASM
ASPM A1125Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS18940-1100-36-ASM
ASPM R1264Hinsufficiently evaluated not reviewed, f=0.004unknown var-GS19020-1100-36-ASM
var-GS19017-1100-36-ASM
ASPM V1321Iinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_D02 from PGP sample 27316983
ASPM W1326Xinsufficiently evaluated pathogenicunknown

(12 web hits)

ASPM T1688Iinsufficiently evaluated none, f=0.015unknown var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19238-1100-36-ASM
ASPM R1695Cinsufficiently evaluated not reviewed, f=0.029unknown var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18508-1100-36-ASM
ASPM R1729Winsufficiently evaluated not reviewed, f=0.009unknown CGI sample GS000005532
var-GS19648-1100-36-ASM
ASPM Q1736Einsufficiently evaluated not reviewed, f=0.009unknown var-GS19026-1100-36-ASM
ASPM Y1742Hinsufficiently evaluated not reviewed, f=0.008unknown var-GS19735-1100-36-ASM
ASPM A1860Vinsufficiently evaluated none, f=0.015unknown var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19238-1100-36-ASM
ASPM A1877Tinsufficiently evaluated not reviewed, f=0.007unknown
ASPM Q1914Rinsufficiently evaluated not reviewed, f=0.005unknown var-GS19704-1100-36-ASM
ASPM C1941Rinsufficiently evaluated none, f=0.015unknown var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19238-1100-36-ASM
ASPM Q2013Einsufficiently evaluated not reviewedunknown
ASPM Y2063Xinsufficiently evaluated pathogenicunknown

(1 web hit)

ASPM K2238Qinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B02 from PGP sample 94378523
ASPM V2243Linsufficiently evaluated not reviewed, f=0.005unknown CGI sample GS00253-DNA_B02_200_37
ASPM T2490Ainsufficiently evaluated not reviewed, f=0.008unknown var-GS18504-1100-36-ASM
ASPM Y2494Hinsufficiently evaluated not reviewed, f=0.996unknown

(12 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 (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 (hom)
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-GS19834-1100-36-ASM (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 (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
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 (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
ASPM L2522Winsufficiently evaluated not reviewed, f=0.008unknown var-GS19026-1100-36-ASM
ASPM R2524Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
ASPM S2562Ginsufficiently evaluated none, f=0.317unknown

(7 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37 (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
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS18526-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
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
ASPM V2596Ainsufficiently evaluated none, f=0.015unknown var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19238-1100-36-ASM
ASPM Q2620Hinsufficiently evaluated none, f=0.051unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS06985-1100-36-ASM
ASPM L2647Iinsufficiently evaluated none, f=0.320unknown

(1 web hit)

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)
hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37 (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
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS18526-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
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
ASPM R2690Winsufficiently evaluated not reviewed, f=0.000unknown var-GS19704-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
ASPM R2842Winsufficiently evaluated not reviewed, f=0.000unknown

(2 web hits)

ASPM C2953Rinsufficiently evaluated noneunknown
ASPM C3034Yinsufficiently evaluated not reviewed, f=0.008unknown var-GS18947-1100-36-ASM
ASPM Q3060Xinsufficiently evaluated pathogenic, f=0.000unknown
ASPM L3132Rinsufficiently evaluated not reviewed, f=0.036unknown 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
var-GS19649-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS01173-DNA_B02 from PGP sample 94378523
ASPM H3258Rinsufficiently evaluated not reviewed, f=0.007unknown var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19238-1100-36-ASM
Page: 1 2 3 4 5 6
Total results: 51

Gene search

"GENE" or "GENE A123C":

Log in