GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ABCC2 F10Vinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
ABCC2 Y39Finsufficiently evaluated none, f=0.993unknown

(7 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
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)
ABCC2 R152Winsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
ABCC2 E186Ginsufficiently evaluated not reviewed, f=0.008unknown var-GS19704-1100-36-ASM
ABCC2 Y217Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS19735-1100-36-ASM
ABCC2 K236Einsufficiently evaluated not reviewedunknown
ABCC2 L287Finsufficiently evaluated not reviewedunknown
ABCC2 R353Hinsufficiently evaluated not reviewed, f=0.017unknown

(4 web hits)

var-GS19025-1100-36-ASM
var-GS19020-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
ABCC2 V417Iinsufficiently evaluated pharmacogenetic, f=0.192unknown

Associated with increased activity of the intestinal efflux transporter ABCC2, evidenced by gene-dose related decrease of oral absorption and increased residual clearance of talinolol.

(39 web hits)

PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
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
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
var-GS18502-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B01_200_37
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 (hom)
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM (hom)
ABCC2 V449Ginsufficiently evaluated noneunknown
ABCC2 R768Ginsufficiently evaluated not reviewedunknown
ABCC2 R768Winsufficiently evaluated pathogenicunknown

(98 web hits)

ABCC2 S789Cinsufficiently evaluated not reviewedunknown
ABCC2 N807Tinsufficiently evaluated not reviewedunknown
ABCC2 L849Rinsufficiently evaluated none, f=0.012unknown

(1 web hit)

CGI sample GS00253-DNA_B01_200_37
ABCC2 R915Cinsufficiently evaluated not reviewed, f=0.001unknown
ABCC2 G921Sinsufficiently evaluated none, f=0.010unknown
ABCC2 S938Ninsufficiently evaluated not reviewed, f=0.001unknown
ABCC2 I982Vinsufficiently evaluated not reviewed, f=0.001unknown

(1 web hit)

ABCC2 I1009Tinsufficiently evaluated none, f=0.001unknown

(1 web hit)

ABCC2 N1063Sinsufficiently evaluated not reviewed, f=0.002unknown

(2 web hits)

ABCC2 R1150Hinsufficiently evaluated pathogenicunknown

(17 web hits)

ABCC2 I1173Finsufficiently evaluated pathogenicunknown

(13 web hits)

ABCC2 Q1180Xinsufficiently evaluated not reviewed, f=0.008unknown var-GS19735-1100-36-ASM
ABCC2 R1181Linsufficiently evaluated none, f=0.033unknown

(2 web hits)

var-GS19239-1100-36-ASM (hom)
var-GS19240-1100-36-ASM
ABCC2 V1188Einsufficiently evaluated pharmacogenetic, f=0.062unknown

(20 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS000005532
hu232307 build 36 substitution variants
CGI sample GS00253-DNA_G01_200_37
var-GS10851-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_C01_200_37
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS18517-1100-36-ASM
ABCC2 V1214Ainsufficiently evaluated not reviewed, f=0.008unknown var-GS19648-1100-36-ASM
ABCC2 P1291Linsufficiently evaluated not reviewed, f=0.012unknown var-GS21767-1100-36-ASM
ABCC2 Q1382Rinsufficiently evaluated pathogenicunknown

(89 web hits)

ABCC2 A1450Pinsufficiently evaluated not reviewedunknown
ABCC2 A1450Sinsufficiently evaluated not reviewed, f=0.000unknown var-GS18526-1100-36-ASM
ABCC2 C1515Yinsufficiently evaluated pharmacogenetic, f=0.096unknown

(26 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS19025-1100-36-ASM
CGI sample GS000005532
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
CGI sample GS00253-DNA_G01_200_37
var-GS10851-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
CGI sample GS00253-DNA_C01_200_37
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM
var-GS18508-1100-36-ASM
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Total results: 32

Gene search

"GENE" or "GENE A123C":

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