GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
USH1C R31Xinsufficiently evaluated pathogenicunknown

(13 web hits)

USH1C H34Rinsufficiently evaluated none, f=0.005unknown

(1 web hit)

var-GS19017-1100-36-ASM
USH1C V130Iuncertain benign, f=0.017unknown

This moderately common variant (1000 genomes allele frequency of 6.2%) was reported found heterozygously in a patient with Usher syndrome. However, the high allele frequency and fact that it is a conservative amino acid change supports classifying this variant as benign.

(5 web hits)

var-GS19703-1100-36-ASM
var-GS19129-1100-36-ASM
USH1C V135Iinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
USH1C R155Pinsufficiently evaluated not reviewed, f=0.008unknown var-GS18942-1100-36-ASM
USH1C S281Rinsufficiently evaluated not reviewedunknown
USH1C G379Dinsufficiently evaluated not reviewedunknown hu34D5B9 exome
USH1C E519Dinsufficiently evaluated not reviewedunknown

(10 web hits)

hu728FFF build 36 substitution variants
USH1C R608Pinsufficiently evaluated pathogenicunknown

(2 web hits)

USH1C R620Linsufficiently evaluated not reviewed, f=0.010unknown CGI sample GS00253-DNA_B02_200_37
USH1C A783Sinsufficiently evaluated not reviewed, f=0.015unknown var-GS19700-1100-36-ASM
var-GS19017-1100-36-ASM
USH1C E819Dinsufficiently evaluated not reviewed, f=0.517unknown

(6 web hits)

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)
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
var-GS19025-1100-36-ASM
CGI sample GS01175-DNA_H01 from PGP sample 94797469
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
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM (hom)
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37 (hom)
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 (hom)
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523
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 (hom)
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
USH1C A871Tinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
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Total results: 13

Gene search

"GENE" or "GENE A123C":

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