GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
USH2A A125Tinsufficiently evaluated not reviewed, f=0.719unknown

(13 web hits)

CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
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)
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS19020-1100-36-ASM
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
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants (hom)
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 (hom)
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)
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS18502-1100-36-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 GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
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)
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37
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_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
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
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
USH2A V230Muncertain benign, f=0.016recessive

This rare variant may be associated with Usher Syndrome II, but the literature seems to have concluded that it is a non-pathogenic polymorphism (including authors who earlier reported it as pathogenic).

(12 web hits)

PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
USH2A L260Xinsufficiently evaluated pathogenicunknown

(15 web hits)

USH2A Q271Rinsufficiently evaluated not reviewedunknown
USH2A H308Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS20509-1100-36-ASM
USH2A C319Yinsufficiently evaluated pathogenicunknown

(25 web hits)

USH2A T327Iinsufficiently evaluated not reviewedunknown
USH2A C419Finsufficiently evaluated pathogenic, f=0.000unknown

(26 web hits)

USH2A E478Dinsufficiently evaluated benign, f=0.011dominant

Reported in 2004 as a variant of uncertain pathogenicity for Usher Syndrome type II, but in 2007 it was found to have an allelic frequency of 0.017 in Dutch controls.

(11 web hits)

USH2A L555Vinsufficiently evaluated not reviewed, f=0.001unknown

Reported to cause autosomal recessive retinitis pigmentosa

var-GS19669-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
USH2A T613Rinsufficiently evaluated noneunknown
USH2A D644Vinsufficiently evaluated not reviewed, f=0.059unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS000006909
var-GS07357-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01173-DNA_B07 from PGP sample 61499538
USH2A G713Rinsufficiently evaluated none, f=0.066unknown

(20 web hits)

CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS18504-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19026-1100-36-ASM
USH2A R737Xinsufficiently evaluated pathogenicunknown

(1 web hit)

USH2A C759Finsufficiently evaluated pathogenic, f=0.002unknown

(83 web hits)

USH2A A1009Vinsufficiently evaluated not reviewed, f=0.000unknown var-GS19834-1100-36-ASM
USH2A S1122Ainsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS18537-1100-36-ASM
USH2A S1311Xinsufficiently evaluated pathogenicrecessive

This variant, which creates a missense mutation, is associated with Usher syndrome type II. Although the case/control data is insufficient to establish significance, downstream missense mutations in this gene are also associated with the disease, implying that this must have the same effect.

USH2A R1486Kinsufficiently evaluated not reviewed, f=0.607unknown

(11 web hits)

CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants (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
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
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
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
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
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM (hom)
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-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
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)
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
USH2A S1532Ninsufficiently evaluated not reviewedunknown
USH2A I1665Tinsufficiently evaluated not reviewed, f=0.112unknown

(2 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS07357-1100-36-ASM
var-GS19701-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
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
CGI sample GS01175-DNA_D01 from PGP sample 31286272
hu728FFF build 36 substitution variants
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18956-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
USH2A P1843Linsufficiently evaluated not reviewed, f=0.009unknown var-GS18558-1100-36-ASM
USH2A G1951Vinsufficiently evaluated not reviewedunknown
USH2A E1994Kinsufficiently evaluated not reviewed, f=0.000unknown var-GS18502-1100-36-ASM
USH2A K2026Rinsufficiently evaluated not reviewed, f=0.006unknown var-GS19238-1100-36-ASM
USH2A T2086Ninsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B07 from PGP sample 61499538
USH2A I2106Tinsufficiently evaluated not reviewed, f=0.698unknown

(11 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)
var-GS19025-1100-36-ASM
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)
var-GS18942-1100-36-ASM (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
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM
var-GS12004-1100-36-ASM
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 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
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
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
CGI sample GS01175-DNA_B01 from PGP sample 86206034
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
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37 (hom)
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 (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 (hom)
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS06985-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
USH2A I2169Tinsufficiently evaluated not reviewed, f=0.481unknown

(10 web hits)

CGI sample GS00253-DNA_E01_200_37 (hom)
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
var-GS19025-1100-36-ASM
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
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM (hom)
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-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
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
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
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM
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
CGI sample GS01173-DNA_B02 from PGP sample 94378523
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 (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
USH2A S2196Tinsufficiently evaluated none, f=0.042unknown

(3 web hits)

var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS18517-1100-36-ASM
USH2A G2211Vinsufficiently evaluated not reviewedunknown CGI sample GS000006909
USH2A E2238Ainsufficiently evaluated none, f=0.021unknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM
USH2A R2292Hinsufficiently evaluated not reviewed, f=0.021unknown hu232307 build 36 substitution variants
USH2A M2387Tinsufficiently evaluated not reviewed, f=0.005unknown var-GS21767-1100-36-ASM
USH2A I2399Vinsufficiently evaluated not reviewedunknown
USH2A K2532Tinsufficiently evaluated not reviewed, f=0.001unknown
USH2A V2562Ainsufficiently evaluated not reviewed, f=0.007unknown

(4 web hits)

CGI sample GS00253-DNA_G01_200_37
var-GS20502-1100-36-ASM
var-GS20509-1100-36-ASM
USH2A T2772Iinsufficiently evaluated not reviewed, f=0.002unknown var-GS19025-1100-36-ASM
USH2A T2781Iinsufficiently evaluated not reviewed, f=0.008unknown var-GS18947-1100-36-ASM
USH2A V2820Iinsufficiently evaluated none, f=0.005unknown var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
USH2A R2875Qinsufficiently evaluated not reviewed, f=0.031unknown

(2 web hits)

CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18501-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01175-DNA_D01 from PGP sample 31286272
USH2A L2886Finsufficiently evaluated none, f=0.048unknown

(3 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS07357-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37
var-GS10851-1100-36-ASM
var-GS19239-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19240-1100-36-ASM
var-GS18526-1100-36-ASM
var-GS20509-1100-36-ASM
USH2A E3088Kinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_D05 from PGP sample 1205491
USH2A I3092Rinsufficiently evaluated not reviewed, f=0.000unknown var-GS21767-1100-36-ASM
USH2A N3099Sinsufficiently evaluated not reviewed, f=0.044unknown

(2 web hits)

var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18501-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
USH2A I3103Vinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_F02 from PGP sample 95788191
USH2A T3115Ainsufficiently evaluated none, f=0.032unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS07357-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37
var-GS10851-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS18526-1100-36-ASM
var-GS20509-1100-36-ASM
USH2A D3144Ninsufficiently evaluated not reviewed, f=0.038unknown

(2 web hits)

var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18501-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
USH2A N3199Dinsufficiently evaluated none, f=0.054unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS07357-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37
var-GS10851-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS18526-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS20509-1100-36-ASM
USH2A P3202Ainsufficiently evaluated not reviewedunknown
USH2A E3411Ainsufficiently evaluated not reviewed, f=0.573unknown

(12 web hits)

CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
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
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37 (hom)
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (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
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM (hom)
var-GS06994-1100-36-ASM
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
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
USH2A C3416Ginsufficiently evaluated not reviewedunknown hu34D5B9 exome
USH2A T3421Pinsufficiently evaluated not reviewed, f=0.003unknown
USH2A GL3485ENinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
USH2A V3518Iinsufficiently evaluated none, f=0.007unknown var-GS19020-1100-36-ASM
var-GS19129-1100-36-ASM
USH2A S3743Ninsufficiently evaluated not reviewedunknown

(1 web hit)

USH2A E3802Kinsufficiently evaluated not reviewed, f=0.001unknown CGI sample GS00253-DNA_E01_200_37
USH2A T3835Iinsufficiently evaluated none, f=0.203unknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome (hom)
var-GS18558-1100-36-ASM
CGI sample GS000005532
hu232307 build 36 substitution variants
var-GS06994-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
USH2A M3868Vinsufficiently evaluated none, f=0.218unknown

(3 web hits)

CGI sample GS00253-DNA_E01_200_37 (hom)
var-GS19025-1100-36-ASM
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome (hom)
var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18558-1100-36-ASM
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
var-GS19239-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_C01_200_37
var-GS19238-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
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
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM
var-GS18956-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
USH2A P3893Tinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
USH2A W3955Xinsufficiently evaluated pathogenicunknown

(8 web hits)

USH2A W4149Rinsufficiently evaluated not reviewed, f=0.009unknown var-GS18501-1100-36-ASM
var-GS19704-1100-36-ASM
USH2A T4169Ainsufficiently evaluated not reviewed, f=0.001unknown var-GS18501-1100-36-ASM
var-GS19703-1100-36-ASM
USH2A I4186Tinsufficiently evaluated not reviewed, f=0.002unknown
USH2A R4192Cinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
USH2A Y4273Hinsufficiently evaluated not reviewed, f=0.005unknown var-GS18501-1100-36-ASM
var-GS19703-1100-36-ASM
USH2A I4295Vinsufficiently evaluated not reviewed, f=0.000unknown var-GS19020-1100-36-ASM
USH2A V4433Linsufficiently evaluated not reviewed, f=0.017unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000005532
USH2A D4448Ginsufficiently evaluated not reviewed, f=0.001unknown var-GS19025-1100-36-ASM
USH2A R4570Hinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D01 from PGP sample 31286272
USH2A R4674Ginsufficiently evaluated pathogenicunknown

(2 web hits)

USH2A G4692Runcertain benign, f=0.005unknown

Likely benign. Deleterious variants in this gene can cause Usher Syndrome type IIa in a recessive manner, but this variant doesn’t appear to be involved.

USH2A G4759Einsufficiently evaluated not reviewed, f=0.001unknown
USH2A S4772Finsufficiently evaluated not reviewed, f=0.004unknown var-GS21767-1100-36-ASM
var-GS18508-1100-36-ASM
USH2A A4778Dinsufficiently evaluated not reviewed, f=0.009unknown

(2 web hits)

USH2A G4838Einsufficiently evaluated none, f=0.018unknown

(9 web hits)

var-GS18942-1100-36-ASM (hom)
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18956-1100-36-ASM
USH2A R4848Qinsufficiently evaluated none, f=0.003unknown var-GS18942-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
USH2A T4888Sinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
USH2A T4918Minsufficiently evaluated not reviewed, f=0.001unknown CGI sample GS00253-DNA_B01_200_37
USH2A A4987Vinsufficiently evaluated not reviewed, f=0.000unknown var-GS19649-1100-36-ASM
var-GS19669-1100-36-ASM
USH2A K5026Einsufficiently evaluated none, f=0.002unknown var-GS18942-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
USH2A S5032Ginsufficiently evaluated not reviewedunknown
USH2A D5103Ninsufficiently evaluated not reviewedunknown
USH2A I5126Tinsufficiently evaluated not reviewed, f=0.024unknown

(2 web hits)

var-GS21767-1100-36-ASM
USH2A S5188Ginsufficiently evaluated not reviewed, f=0.002unknown var-GS18942-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
Page: 1 2 3 4 5 6 7 8 9
Total results: 84

Gene search

"GENE" or "GENE A123C":

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