GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
APC W157Xinsufficiently evaluated pathogenicunknown

(2 web hits)

APC Q208Xinsufficiently evaluated pathogenicunknown

(2 web hits)

APC Q215Xinsufficiently evaluated pathogenicunknown

(5 web hits)

APC S280Xinsufficiently evaluated pathogenicunknown

(1 web hit)

APC R302Xinsufficiently evaluated pathogenicunknown

(9 web hits)

APC R414Cinsufficiently evaluated pathogenic, f=0.000unknown

(13 web hits)

APC Y486Xinsufficiently evaluated pathogenicunknown

(1 web hit)

APC R499Xinsufficiently evaluated pathogenicunknown

(7 web hits)

APC Q541Xinsufficiently evaluated pathogenicunknown

(6 web hits)

APC R554Xinsufficiently evaluated pathogenicunknown

(4 web hits)

APC R564Xinsufficiently evaluated pathogenicunknown

(7 web hits)

APC L698Xinsufficiently evaluated pathogenicunknown

(1 web hit)

APC S713Xinsufficiently evaluated pathogenicunknown

(2 web hits)

APC P870Sinsufficiently evaluated not reviewed, f=0.011unknown var-GS19238-1100-36-ASM
APC Y935Xinsufficiently evaluated pathogenicunknown

(10 web hits)

APC I983Tinsufficiently evaluated not reviewedunknown
APC Q1067Xinsufficiently evaluated pathogenicunknown

(1 web hit)

APC G1120Einsufficiently evaluated pathogenicunknown

(9 web hits)

APC E1157Delinsufficiently evaluated not reviewed, f=0.008unknown var-GS19239-1100-36-ASM
APC I1307Kinsufficiently evaluated pathogenic, f=0.001unknown

(2310 web hits)

APC E1317Qlikely pathogenic, f=0.009dominant

This rare variant has been hypothesized to increase risk of colon cancer. Later studies have contradicted this, finding no significant enrichment and concluding the variant does not increase risk.

(497 web hits)

var-GS12004-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
APC Q1338Xinsufficiently evaluated pathogenicunknown

(46 web hits)

APC S1395Cinsufficiently evaluated pathogenicunknown

(3 web hits)

APC K1454Einsufficiently evaluated not reviewed, f=0.003unknown

(7 web hits)

APC E1540Qinsufficiently evaluated none, f=0.008unknown var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
APC M1638Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS18947-1100-36-ASM
APC V1804Dinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
APC V1822Dinsufficiently evaluated not reviewed, f=0.826unknown

(28 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)
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
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
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
var-GS07357-1100-36-ASM
CGI sample GS000005532
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
CGI sample GS00253-DNA_G01_200_37
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
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
CGI sample GS00253-DNA_B02_200_37 (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
CGI sample GS00253-DNA_F01_200_37 (hom)
var-GS20502-1100-36-ASM
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 (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
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
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426
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
CGI sample GS01173-DNA_B07 from PGP sample 61499538
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 (hom)
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
APC P2065Linsufficiently evaluated not reviewedunknown
APC G2502Sinsufficiently evaluated not reviewedunknown
APC S2621Cinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D03 from PGP sample 27486199
APC A2648Einsufficiently evaluated not reviewedunknown
APC2 F140Sinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01173-DNA_B02 from PGP sample 94378523
APC2 G323Rinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B07 from PGP sample 61499538
APC2 V440Minsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_E01_200_37
APC2 A466Tinsufficiently evaluated not reviewedunknown
APC2 A829Vinsufficiently evaluated not reviewed, f=0.010unknown var-GS18947-1100-36-ASM
APC2 A949Tinsufficiently evaluated none, f=0.034unknown

(1 web hit)

var-GS19025-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19026-1100-36-ASM
APC2 R1456Pinsufficiently evaluated not reviewed, f=0.013unknown var-GS19703-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
APC2 P1799Linsufficiently evaluated none, f=0.001unknown
APC2 P2056Qinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01175-DNA_B04 from PGP sample 88590671
APC2 A2057Tinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
APC2 T2077Sinsufficiently evaluated none, f=0.085unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
hu34D5B9 exome (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS01175-DNA_B04 from PGP sample 88590671
APC2 P2081Linsufficiently evaluated noneunknown
APC2 S2241Ainsufficiently evaluated none, f=0.020unknown var-GS18504-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18517-1100-36-ASM
APCDD1 V150Iinsufficiently evaluated none, f=0.089unknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS000006909
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS00253-DNA_G01_200_37
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01669-DNA_D02 from PGP sample 27316983
var-GS18947-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18940-1100-36-ASM
APCDD1 V351Iinsufficiently evaluated not reviewed, f=0.004unknown var-GS19834-1100-36-ASM
APCDD1 R487Qinsufficiently evaluated not reviewed, f=0.000unknown
APCDD1 C503Winsufficiently evaluated not reviewedunknown
APCDD1L P21Linsufficiently evaluated not reviewed, f=0.002unknown var-GS19834-1100-36-ASM
APCDD1L E25Ginsufficiently evaluated not reviewedunknown
APCDD1L C30Rinsufficiently evaluated none, f=0.403unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome (hom)
var-GS18942-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-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
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS18555-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS19129-1100-36-ASM (hom)
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_B04 from PGP sample 88590671
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
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
APCDD1L C30Hinsufficiently evaluated not reviewed, f=0.008unknown var-GS19703-1100-36-ASM
APCDD1L Y80Hinsufficiently evaluated none, f=0.045unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
var-GS19025-1100-36-ASM
hu34D5B9 exome
var-GS18501-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS18947-1100-36-ASM
CGI sample GS01175-DNA_B04 from PGP sample 88590671
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
APCDD1L R83Qinsufficiently evaluated not reviewed, f=0.015unknown var-GS18505-1100-36-ASM
APCDD1L Q244Hinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_B02_200_37
APCDD1L R261Hinsufficiently evaluated not reviewed, f=0.001unknown
APCDD1L H279Ninsufficiently evaluated not reviewed, f=0.008unknown var-GS19025-1100-36-ASM
APCDD1L E412Xinsufficiently evaluated not reviewedunknown
APCS G153Rinsufficiently evaluated not reviewed, f=0.008unknown var-GS18501-1100-36-ASM
APCS V223Iinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
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Total results: 61

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