GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
MUT Q17Xinsufficiently evaluated pathogenicunknown

(3 web hits)

MUT R93Hinsufficiently evaluated pathogenicunknown

(35 web hits)

MUT P104Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS18508-1100-36-ASM
MUT W105Rinsufficiently evaluated pathogenicunknown

(9 web hits)

MUT R108Cinsufficiently evaluated pathogenicunknown

(24 web hits)

MUT E117Xinsufficiently evaluated pathogenicunknown

(31 web hits)

MUT R154Hinsufficiently evaluated not reviewed, f=0.008unknown var-GS18558-1100-36-ASM
MUT G215Sinsufficiently evaluated pathogenicunknown

(1 web hit)

MUT N219Yinsufficiently evaluated pathogenicunknown

(52 web hits)

MUT A378Einsufficiently evaluated pathogenicunknown

(3 web hits)

MUT A477Ginsufficiently evaluated not reviewedunknown
MUT A499Tinsufficiently evaluated none, f=0.105unknown

(3 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18504-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS00253-DNA_B01_200_37
CGI sample GS00253-DNA_C01_200_37
var-GS19238-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM
MUT R532Hinsufficiently evaluated none, f=0.313unknown

(1 web hit)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_F02 from PGP sample 40767107
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS18501-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532 (hom)
hu232307 build 36 substitution variants
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19704-1100-36-ASM
var-GS18502-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
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_B04 from PGP sample 88590671
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-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
MUT R532Pinsufficiently evaluated not reviewedunknown
MUT G623Rinsufficiently evaluated pathogenic, f=0.000unknown

(22 web hits)

MUT I671Vinsufficiently evaluated none, f=0.608unknown

(1 web hit)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu3215A7 build 36 substitution variants
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
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
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM (hom)
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
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_B04 from PGP sample 88590671
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 (hom)
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
MUT G703Rinsufficiently evaluated pathogenicunknown

(16 web hits)

MUT G717Vinsufficiently evaluated pathogenic, f=0.000unknown

(59 web hits)

MUTED P9Linsufficiently evaluated not reviewed, f=0.001unknown

(5 web hits)

MUTED N147Dinsufficiently evaluated not reviewed, f=0.011unknown var-GS18504-1100-36-ASM
MUTED N147Sinsufficiently evaluated not reviewedunknown
MUTED A182Vinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B02 from PGP sample 94378523
MUTYH P4Linsufficiently evaluated noneunknown
MUTYH V8Minsufficiently evaluated not reviewed, f=0.051unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
CGI sample GS00253-DNA_G01_200_37
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
var-GS06994-1100-36-ASM
var-GS06985-1100-36-ASM
MUTYH G11Dinsufficiently evaluated noneunknown

(1 web hit)

MUTYH P18Linsufficiently evaluated noneunknown

(10 web hits)

MUTYH V22Minsufficiently evaluated noneunknown

(30 web hits)

MUTYH G25Dinsufficiently evaluated noneunknown

(9 web hits)

MUTYH Y90Xinsufficiently evaluated pathogenicunknown

(35 web hits)

MUTYH Y152Cinsufficiently evaluated pathogenicrecessive

Reported by numerous labs in ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/variation/5293/), causing MUTYH-associated polyposis (MAP) in a recessive manner. Affected individuals have a greatly increased lifetime risk of colorectal cancer. GET-Evidence predicts “Y152C” for this genomic variation, but ClinVar reports the variant as MUTYH Y179C. Carriers may also have some increased risk for colorectal cancer.

MUTYH Y165Cinsufficiently evaluated pathogenicunknown

(317 web hits)

MUTYH L229Rinsufficiently evaluated not reviewedunknown
MUTYH L230Rinsufficiently evaluated not reviewedunknown
MUTYH L243Rinsufficiently evaluated not reviewedunknown

(1 web hit)

MUTYH L254Rinsufficiently evaluated not reviewedunknown
MUTYH L257Rinsufficiently evaluated not reviewedunknown
MUTYH Q310Hinsufficiently evaluated noneunknown
MUTYH Q311Hinsufficiently evaluated none, f=0.253unknown 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 GS01669-DNA_F02 from PGP sample 40767107
hu3215A7 build 36 substitution variants
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18501-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM (hom)
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37 (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
MUTYH Q324Hinsufficiently evaluated noneunknown

(36 web hits)

MUTYH Q335Hinsufficiently evaluated noneunknown

(8 web hits)

MUTYH Q338Hinsufficiently evaluated noneunknown
MUTYH T347Iinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B02 from PGP sample 94378523
MUTYH G369Dpathogenicrecessive

Reported to cause high penetrance colorectal cancer (MUTYH-Associated Polyposis) in a recessive manner (i.e. if there are two copies, or if combined with another damaging variant in the same gene). This effect is consistently reported to ClinVar by several sources (http://www.ncbi.nlm.nih.gov/clinvar/variation/5294/), indicating the evidence supporting this effect is fairly strong.

MUTYH G382Dinsufficiently evaluated pathogenicunknown

(332 web hits)

MUTYH P391Sinsufficiently evaluated pathogenicunknown

(1 web hit)

MUTYH Q400Rinsufficiently evaluated pathogenicunknown

(1 web hit)

MUTYH E466Xinsufficiently evaluated pathogenicunknown

(29 web hits)

MUTYH G475Einsufficiently evaluated noneunknown
MUTYH G476Einsufficiently evaluated none, f=0.001unknown var-GS19129-1100-36-ASM
MUTYH S487Finsufficiently evaluated not reviewedunknown
MUTYH S488Finsufficiently evaluated not reviewed, f=0.012unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS19025-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
MUTYH G489Einsufficiently evaluated noneunknown
MUTYH G500Einsufficiently evaluated noneunknown
MUTYH S501Finsufficiently evaluated not reviewedunknown

(20 web hits)

MUTYH G503Einsufficiently evaluated noneunknown
MUTYH R506Qinsufficiently evaluated noneunknown

(6 web hits)

MUTYH R507Qinsufficiently evaluated none, f=0.012unknown var-GS19239-1100-36-ASM (hom)
var-GS19240-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18517-1100-36-ASM
MUTYH S512Finsufficiently evaluated not reviewedunknown

(6 web hits)

MUTYH S515Finsufficiently evaluated not reviewedunknown

(2 web hits)

MUTYH R520Qinsufficiently evaluated noneunknown

(1 web hit)

MUTYH R531Qinsufficiently evaluated noneunknown

(1 web hit)

MUTYH R534Qinsufficiently evaluated noneunknown
Page: 1 2 3 4 5 6 7
Total results: 62

Gene search

"GENE" or "GENE A123C":

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