GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
VCAN W298Rinsufficiently evaluated not reviewedunknown
VCAN S300Linsufficiently evaluated none, f=0.005unknown

(7 web hits)

CGI sample GS000006909
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
VCAN K349Einsufficiently evaluated not reviewed, f=0.030unknown hu34D5B9 exome
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19669-1100-36-ASM
VCAN G428Dinsufficiently evaluated none, f=0.173unknown var-GS19025-1100-36-ASM
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
var-GS19240-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS18517-1100-36-ASM
VCAN S467Pinsufficiently evaluated not reviewedunknown

(1 web hit)

VCAN W484Rinsufficiently evaluated not reviewedunknown
VCAN I508Ninsufficiently evaluated not reviewed, f=0.003unknown CGI sample GS000006909
VCAN R524Ginsufficiently evaluated not reviewedunknown
VCAN K529Rinsufficiently evaluated not reviewedunknown
VCAN M619Vinsufficiently evaluated not reviewedunknown
VCAN T689Auncertain benign, f=0.006unknown

Probably not pathogenic, seen in two healthy PGP participants, contradicting a severe pathogenic effect.

CGI sample GS000005532
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_F01_200_37
CGI sample GS00253-DNA_H01_200_37
VCAN V720Ainsufficiently evaluated not reviewed, f=0.002unknown hu232307 build 36 substitution variants
VCAN L793Sinsufficiently evaluated not reviewed, f=0.009unknown var-GS19700-1100-36-ASM
var-GS19026-1100-36-ASM
VCAN R839Hinsufficiently evaluated not reviewedunknown
VCAN S959Cinsufficiently evaluated none, f=0.005unknown var-GS19129-1100-36-ASM
VCAN P963Sinsufficiently evaluated none, f=0.006unknown var-GS19703-1100-36-ASM
var-GS19129-1100-36-ASM
VCAN E1058Ginsufficiently evaluated not reviewedunknown
VCAN D1069Ninsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
VCAN G1107Dinsufficiently evaluated not reviewed, f=0.008unknown var-GS18947-1100-36-ASM
VCAN F1314Yinsufficiently evaluated not reviewedunknown
VCAN H1385Pinsufficiently evaluated noneunknown
VCAN K1516Einsufficiently evaluated not reviewedunknown var-GS18942-1100-36-ASM
VCAN K1516Rinsufficiently evaluated none, f=0.499unknown

(1 web hit)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
var-GS19025-1100-36-ASM (hom)
hu34D5B9 exome
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37 (hom)
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 (hom)
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (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)
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-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
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
VCAN S1635Xinsufficiently evaluated not reviewed, f=0.008unknown var-GS19703-1100-36-ASM
VCAN T1719Sinsufficiently evaluated not reviewed, f=0.013unknown var-GS18504-1100-36-ASM
var-GS19704-1100-36-ASM
VCAN Q1814Hinsufficiently evaluated not reviewed, f=0.008unknown var-GS19735-1100-36-ASM
VCAN R1826Hinsufficiently evaluated none, f=0.383unknown

(2 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
CGI sample GS000006909 (hom)
CGI sample GS000005532 (hom)
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
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
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
VCAN A1859Einsufficiently evaluated not reviewed, f=0.014unknown var-GS18504-1100-36-ASM
var-GS19704-1100-36-ASM
VCAN Y1917Finsufficiently evaluated not reviewed, f=0.002unknown var-GS19704-1100-36-ASM
VCAN D1950Yinsufficiently evaluated not reviewedunknown
VCAN Q2108Einsufficiently evaluated none, f=0.000unknown
VCAN F2301Yinsufficiently evaluated none, f=0.496unknown

(1 web hit)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
var-GS19025-1100-36-ASM (hom)
hu34D5B9 exome
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37 (hom)
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 (hom)
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (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)
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-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
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
VCAN P2344Sinsufficiently evaluated none, f=0.033unknown var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS18517-1100-36-ASM
VCAN V2460Ainsufficiently evaluated not reviewed, f=0.001unknown
VCAN T2671Kinsufficiently evaluated none, f=0.001unknown var-GS19239-1100-36-ASM
VCAN V2685Iinsufficiently evaluated none, f=0.008unknown var-GS18956-1100-36-ASM
VCAN R2697Cinsufficiently evaluated not reviewed, f=0.000unknown var-GS19649-1100-36-ASM
VCAN R2697Hinsufficiently evaluated none, f=0.029unknown var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS18517-1100-36-ASM
VCAN D2937Yinsufficiently evaluated none, f=0.388unknown

(8 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
CGI sample GS000006909 (hom)
var-GS07357-1100-36-ASM
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
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 (hom)
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (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)
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
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
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
VCAN S2979Yinsufficiently evaluated not reviewed, f=0.008unknown var-GS19239-1100-36-ASM
VCAN N3011Kinsufficiently evaluated not reviewed, f=0.055unknown var-GS19700-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS19701-1100-36-ASM (hom)
VCAN A3035Vinsufficiently evaluated not reviewed, f=0.011unknown var-GS18505-1100-36-ASM
VCAN T3045Rinsufficiently evaluated none, f=0.001unknown var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
VCAN W3225Rinsufficiently evaluated not reviewedunknown
VCAN R3338Qinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
Page: 1 2 3 4 5
Total results: 45

Gene search

"GENE" or "GENE A123C":

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