ClinVar Miner

Variants in gene ATRX with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 18
Download table as spreadsheet
NM_000489.5(ATRX):c.1438A>G (p.Thr480Ala) rs587780284
NM_000489.5(ATRX):c.1868A>G (p.Lys623Arg) rs145678415
NM_000489.5(ATRX):c.2001G>A (p.Pro667=) rs139997330
NM_000489.5(ATRX):c.3555G>C (p.Lys1185Asn) rs782696086
NM_000489.5(ATRX):c.39A>G (p.Thr13=) rs1244422748
NM_000489.5(ATRX):c.4031A>G (p.Lys1344Arg) rs782556767
NM_000489.5(ATRX):c.4035G>A (p.Leu1345=) rs111725949
NM_000489.5(ATRX):c.4120+4A>C rs200420513
NM_000489.5(ATRX):c.4130A>G (p.Glu1377Gly) rs782553301
NM_000489.5(ATRX):c.4249C>T (p.Arg1417Trp) rs1557118764
NM_000489.5(ATRX):c.4810-3T>C rs370596323
NM_000489.5(ATRX):c.5559C>T (p.His1853=) rs1557096973
NM_000489.5(ATRX):c.6640T>G (p.Leu2214Val) rs782396522
NM_000489.5(ATRX):c.7435A>G (p.Met2479Val) rs200478641
NM_000489.6(ATRX):c.1842C>T (p.Gly614=)
NM_000489.6(ATRX):c.2133T>G (p.Pro711=)
NM_000489.6(ATRX):c.4353GGA[2] (p.Glu1464del) rs782630348
NM_000489.6(ATRX):c.7439G>A (p.Arg2480Lys)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.