ClinVar Miner

Variants in gene EYS with conflicting interpretations

See also:
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 per condition Variants with at least 2 submissions on the same condition 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 conflict
1258 109 0 34 46 0 13 87

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 18 7 0 0
likely pathogenic 18 0 7 0 0
uncertain significance 7 6 0 41 7
likely benign 0 0 41 0 16
benign 0 0 7 16 0

All variants with conflicting interpretations #

Total variants: 87
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 6q12(chr6:65564377-65671149)x1
NM_001142800.2(EYS):c.-337T>A rs145321084
NM_001142800.2(EYS):c.1107C>T (p.Ser369=) rs755023434
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter) rs143994166
NM_001142800.2(EYS):c.1211dup (p.Asn404fs) rs764163418
NM_001142800.2(EYS):c.1299+5_1299+8del rs1562140604
NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter) rs1471994744
NM_001142800.2(EYS):c.151T>C (p.Leu51=)
NM_001142800.2(EYS):c.1596A>C (p.Lys532Asn) rs61753611
NM_001142800.2(EYS):c.1599+13T>C rs182876572
NM_001142800.2(EYS):c.1660T>A (p.Cys554Ser) rs145102275
NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg) rs61753610
NM_001142800.2(EYS):c.1765A>G (p.Arg589Gly) rs778030177
NM_001142800.2(EYS):c.179del (p.Leu60fs) rs786205652
NM_001142800.2(EYS):c.1809C>T (p.Val603=) rs9345601
NM_001142800.2(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001142800.2(EYS):c.2137+1G>A rs199740930
NM_001142800.2(EYS):c.2157C>T (p.Cys719=) rs9453148
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272
NM_001142800.2(EYS):c.2309A>C (p.Gln770Pro) rs398123574
NM_001142800.2(EYS):c.2500G>A (p.Val834Ile) rs112464110
NM_001142800.2(EYS):c.2511C>T (p.Cys837=) rs999155902
NM_001142800.2(EYS):c.2553C>T (p.Asn851=) rs771641817
NM_001142800.2(EYS):c.2562C>T (p.Asp854=) rs188011013
NM_001142800.2(EYS):c.2598C>T (p.Cys866=) rs183814213
NM_001142800.2(EYS):c.2613C>T (p.Asp871=) rs192059823
NM_001142800.2(EYS):c.2733T>C (p.Asn911=) rs75634595
NM_001142800.2(EYS):c.2739G>A (p.Arg913=) rs77020971
NM_001142800.2(EYS):c.2826_2827del (p.Val944fs) rs878853349
NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe) rs201819948
NM_001142800.2(EYS):c.3243+1G>A
NM_001142800.2(EYS):c.3329C>G (p.Thr1110Ser) rs143327210
NM_001142800.2(EYS):c.334G>A (p.Val112Ile) rs112609906
NM_001142800.2(EYS):c.33G>C (p.Leu11=) rs777361054
NM_001142800.2(EYS):c.3443+1G>T rs373441420
NM_001142800.2(EYS):c.3489T>A (p.Asn1163Lys) rs150951106
NM_001142800.2(EYS):c.3586T>C (p.Cys1196Arg) rs374409854
NM_001142800.2(EYS):c.35T>C (p.Met12Thr)
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter) rs930421180
NM_001142800.2(EYS):c.4392G>T (p.Gly1464=)
NM_001142800.2(EYS):c.4393dup (p.Ala1465fs) rs750840208
NM_001142800.2(EYS):c.453T>A (p.Val151=) rs373183802
NM_001142800.2(EYS):c.4554A>C (p.Thr1518=) rs772339340
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs) rs527236065
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val) rs147641443
NM_001142800.2(EYS):c.5025T>C (p.Ser1675=) rs995130689
NM_001142800.2(EYS):c.5104T>C (p.Leu1702=)
NM_001142800.2(EYS):c.5233G>A (p.Asp1745Asn) rs145274061
NM_001142800.2(EYS):c.5329T>C (p.Leu1777=)
NM_001142800.2(EYS):c.5335G>A (p.Gly1779Ser) rs186499459
NM_001142800.2(EYS):c.5474C>A (p.Thr1825Asn) rs182151153
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser) rs199689193
NM_001142800.2(EYS):c.5577C>T (p.Pro1859=) rs747911999
NM_001142800.2(EYS):c.5600C>T (p.Ser1867Phe) rs542339299
NM_001142800.2(EYS):c.5601T>C (p.Ser1867=) rs182322608
NM_001142800.2(EYS):c.5645-8C>T rs886044616
NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly) rs188093810
NM_001142800.2(EYS):c.5883T>G (p.Thr1961=) rs779530881
NM_001142800.2(EYS):c.5977A>G (p.Thr1993Ala) rs115066356
NM_001142800.2(EYS):c.6025A>G (p.Lys2009Glu) rs559078881
NM_001142800.2(EYS):c.6050G>T (p.Gly2017Val) rs868349465
NM_001142800.2(EYS):c.6079-24TC[8] rs35395170
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp) rs201580493
NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter) rs878853350
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863
NM_001142800.2(EYS):c.6444A>G (p.Pro2148=) rs556671009
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter) rs797045089
NM_001142800.2(EYS):c.6535A>G (p.Ile2179Val) rs148019592
NM_001142800.2(EYS):c.6547A>G (p.Ser2183Gly) rs368458853
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889
NM_001142800.2(EYS):c.6726-7C>T
NM_001142800.2(EYS):c.6828C>T (p.Ala2276=)
NM_001142800.2(EYS):c.6876T>C (p.Asn2292=)
NM_001142800.2(EYS):c.7284A>C (p.Ser2428=) rs775877185
NM_001142800.2(EYS):c.732T>A (p.Cys244Ter) rs1562220891
NM_001142800.2(EYS):c.749-1G>C
NM_001142800.2(EYS):c.7737T>C (p.Thr2579=) rs191846522
NM_001142800.2(EYS):c.777G>A (p.Gln259=) rs78079047
NM_001142800.2(EYS):c.7796A>G (p.His2599Arg) rs74636274
NM_001142800.2(EYS):c.788A>G (p.His263Arg) rs139517572
NM_001142800.2(EYS):c.7899C>A (p.Tyr2633Ter) rs1197863938
NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter) rs779983752
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs) rs751629543
NM_001142800.2(EYS):c.8163A>G (p.Gln2721=)
NM_001142800.2(EYS):c.8233+9G>A
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256
Single allele

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