GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
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
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Total results: 40

Gene search

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