ClinVar Miner

Variants in gene EYS with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
271 29 0 35 13 0 5 50

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 7 1 0 0
likely pathogenic 7 0 4 1 0
uncertain significance 1 4 0 10 5
likely benign 0 1 10 0 28
benign 0 0 5 28 0

All variants with conflicting interpretations #

Total variants: 50
Download table as spreadsheet
HGVS dbSNP
NM_001142800.1(EYS):c.-459C>T rs144371265
NM_001142800.1(EYS):c.1146T>C (p.Asn382=) rs974110
NM_001142800.1(EYS):c.1155T>A (p.Cys385Ter) rs143994166
NM_001142800.1(EYS):c.1184+14T>C rs182780299
NM_001142800.1(EYS):c.1300-3C>T rs1936439
NM_001142800.1(EYS):c.1712A>G (p.Gln571Arg) rs61753610
NM_001142800.1(EYS):c.1809C>T (p.Val603=) rs9345601
NM_001142800.1(EYS):c.1922A>T (p.Glu641Val) rs17411795
NM_001142800.1(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001142800.1(EYS):c.2024-14C>T rs45628235
NM_001142800.1(EYS):c.2137+1G>A rs199740930
NM_001142800.1(EYS):c.2733T>C (p.Asn911=) rs75634595
NM_001142800.1(EYS):c.334G>A (p.Val112Ile) rs112609906
NM_001142800.1(EYS):c.3443+1G>T rs373441420
NM_001142800.1(EYS):c.3489T>A (p.Asn1163Lys) rs150951106
NM_001142800.1(EYS):c.359C>T (p.Thr120Met) rs12193967
NM_001142800.1(EYS):c.3787A>G (p.Ile1263Val) rs17404123
NM_001142800.1(EYS):c.3906C>T (p.His1302=) rs12663916
NM_001142800.1(EYS):c.3936A>G (p.Thr1312=) rs12662610
NM_001142800.1(EYS):c.3973C>G (p.Gln1325Glu) rs12663622
NM_001142800.1(EYS):c.4026C>T (p.Ser1342=) rs12663619
NM_001142800.1(EYS):c.4081A>G (p.Ile1361Val) rs17403955
NM_001142800.1(EYS):c.4093A>G (p.Lys1365Glu) rs16895519
NM_001142800.1(EYS):c.4352T>C (p.Ile1451Thr) rs62415828
NM_001142800.1(EYS):c.4543C>T (p.Arg1515Trp) rs62415827
NM_001142800.1(EYS):c.4549A>G (p.Ser1517Gly) rs62415826
NM_001142800.1(EYS):c.4554A>C (p.Thr1518=) rs772339340
NM_001142800.1(EYS):c.4593G>A (p.Glu1531=) rs62415825
NM_001142800.1(EYS):c.4985A>T (p.Asp1662Val) rs147641443
NM_001142800.1(EYS):c.5244A>C (p.Leu1748Phe) rs57312007
NM_001142800.1(EYS):c.5510G>C (p.Trp1837Ser) rs199689193
NM_001142800.1(EYS):c.5601T>C (p.Ser1867=) rs182322608
NM_001142800.1(EYS):c.5617C>G (p.Leu1873Val) rs16895517
NM_001142800.1(EYS):c.5705A>T (p.Asn1902Ile) rs9353806
NM_001142800.1(EYS):c.5977A>G (p.Thr1993Ala) rs115066356
NM_001142800.1(EYS):c.6025A>G (p.Lys2009Glu) rs559078881
NM_001142800.1(EYS):c.6119T>A (p.Val2040Asp) rs201580493
NM_001142800.1(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863
NM_001142800.1(EYS):c.6528C>A (p.Tyr2176Ter) rs797045089
NM_001142800.1(EYS):c.6714delT (p.Ile2239Serfs) rs752953889
NM_001142800.1(EYS):c.6977G>A (p.Arg2326Gln) rs4710457
NM_001142800.1(EYS):c.7666A>T (p.Ser2556Cys) rs66462731
NM_001142800.1(EYS):c.8368A>G (p.Arg2790Gly) rs1554163993
NM_001142800.1(EYS):c.8429C>T (p.Thr2810Ile) rs144513453
NM_001142800.1(EYS):c.8793_8796delATCA (p.Gln2931Hisfs) rs1554163919
NM_001142800.1(EYS):c.9030A>G (p.Ala3010=) rs61754905
NM_001142800.1(EYS):c.9286_9295delGTAAATATCG (p.Val3096Leufs) rs770748359
NM_001142800.1(EYS):c.9345_9347delTGT (p.Val3116del) rs536788112
NM_001142800.1(EYS):c.9405T>A (p.Tyr3135Ter) rs137853190
NM_001142800.1(EYS):c.977G>A (p.Ser326Asn) rs112822256

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.