GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ATRX R37Xinsufficiently evaluated pathogenicunknown

(10 web hits)

ATRX P73Ainsufficiently evaluated pathogenicunknown

(1 web hit)

ATRX S79Xinsufficiently evaluated pathogenicunknown

(2 web hits)

ATRX R129Cinsufficiently evaluated pathogenicunknown

(2 web hits)

ATRX C220Yinsufficiently evaluated pathogenicunknown

(1 web hit)

ATRX R246Cinsufficiently evaluated pathogenicunknown

(18 web hits)

ATRX T320Sinsufficiently evaluated not reviewed, f=0.011unknown var-GS19701-1100-36-ASM
ATRX L409Sinsufficiently evaluated pathogenicunknown

(1 web hit)

ATRX P502Rinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
ATRX H750Rinsufficiently evaluated pathogenicunknown

(2 web hits)

ATRX C755Rinsufficiently evaluated pathogenicunknown

(2 web hits)

ATRX K792Ninsufficiently evaluated pathogenicunknown

(2 web hits)

ATRX P852Sinsufficiently evaluated pathogenicunknown

(1 web hit)

ATRX Q891Einsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
ATRX Q929Einsufficiently evaluated not reviewed, f=0.509unknown

(1 web hit)

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
var-GS19025-1100-36-ASM (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
var-GS19020-1100-36-ASM (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
CGI sample GS000006909 (hom)
var-GS19703-1100-36-ASM (hom)
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
var-GS19701-1100-36-ASM (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37 (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-GS18555-1100-36-ASM
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 GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM (hom)
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
ATRX N1002Sinsufficiently evaluated pathogenicunknown

(2 web hits)

ATRX K1176Minsufficiently evaluated not reviewed, f=0.000unknown hu232307 build 36 substitution variants (hom)
ATRX D1177Vinsufficiently evaluated pathogenicunknown

(2 web hits)

ATRX Y1226Hinsufficiently evaluated pathogenicunknown

(2 web hits)

ATRX R1272Qinsufficiently evaluated pathogenicunknown

(2 web hits)

ATRX Y1305Cinsufficiently evaluated pathogenicunknown

(2 web hits)

ATRX E1316Dinsufficiently evaluated not reviewedunknown
ATRX E1354Dinsufficiently evaluated not reviewedunknown
ATRX R1528Xinsufficiently evaluated pathogenicunknown

(1 web hit)

ATRX E1530Xinsufficiently evaluated pathogenicunknown

(1 web hit)

ATRX T1621Minsufficiently evaluated pathogenicunknown

(5 web hits)

ATRX R1742Kinsufficiently evaluated pathogenicunknown

(1 web hit)

ATRX N1860Suncertain benignundefined

Proposed to cause X-linked alpha thalassemia intellectual disability syndrome. This assertion was recorded by OMIM in ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/RCV000012490/), made by Gibbons et al 1995 (PMID: 7697714) where the variant was seen once in 25 cases. However, ExAC allele frequency data indicates 1 in 160 men carry this variant – extremely discordant with the proposed effect – and so this hypothesis is strongly contradicted.

ATRX I2052Tinsufficiently evaluated pathogenicunknown

(1 web hit)

ATRX R2271Ginsufficiently evaluated pathogenicunknown

(1 web hit)

ATRX E2351Dinsufficiently evaluated not reviewed, f=0.011unknown var-GS18555-1100-36-ASM
Page: 1 2 3 4
Total results: 31

Gene search

"GENE" or "GENE A123C":

Log in