ClinVar Miner

Variants in gene EHMT1 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
729 32 3 25 21 0 1 49

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 3 3 0 0 0
likely pathogenic 3 0 1 0 0
uncertain significance 0 1 0 15 6
likely benign 0 0 15 0 22
benign 0 0 6 22 0

All variants with conflicting interpretations #

Total variants: 49
Download table as spreadsheet
NM_024757.5(EHMT1):c.1044G>A (p.Ser348=) rs1129767
NM_024757.5(EHMT1):c.1081G>A (p.Gly361Ser) rs143891279
NM_024757.5(EHMT1):c.1089T>C (p.Gly363=) rs1129768
NM_024757.5(EHMT1):c.1135A>G (p.Lys379Glu) rs146711478
NM_024757.5(EHMT1):c.1140G>C (p.Glu380Asp) rs368995503
NM_024757.5(EHMT1):c.1162G>A (p.Ala388Thr) rs11137198
NM_024757.5(EHMT1):c.128C>G (p.Ala43Gly) rs79514677
NM_024757.5(EHMT1):c.129A>T (p.Ala43=) rs76684726
NM_024757.5(EHMT1):c.1368C>T (p.Leu456=) rs45450992
NM_024757.5(EHMT1):c.1369+9C>T rs146125583
NM_024757.5(EHMT1):c.1425C>T (p.Asp475=) rs794727979
NM_024757.5(EHMT1):c.1433G>A (p.Gly478Glu) rs376787713
NM_024757.5(EHMT1):c.148G>A (p.Ala50Thr) rs78104547
NM_024757.5(EHMT1):c.150G>A (p.Ala50=) rs371344592
NM_024757.5(EHMT1):c.1814C>T (p.Pro605Leu) rs373640528
NM_024757.5(EHMT1):c.183C>T (p.Ser61=) rs774448433
NM_024757.5(EHMT1):c.1865A>G (p.Asn622Ser) rs184814386
NM_024757.5(EHMT1):c.1869C>T (p.Asn623=) rs7868455
NM_024757.5(EHMT1):c.1947G>A (p.Ser649=) rs139206060
NM_024757.5(EHMT1):c.211A>G (p.Lys71Glu) rs794727519
NM_024757.5(EHMT1):c.2426C>T (p.Pro809Leu) rs587780332
NM_024757.5(EHMT1):c.2595C>T (p.Asp865=) rs780742937
NM_024757.5(EHMT1):c.2695A>G (p.Ile899Val) rs144085805
NM_024757.5(EHMT1):c.2961C>T (p.Ser987=) rs781254508
NM_024757.5(EHMT1):c.3000C>T (p.Pro1000=) rs35943616
NM_024757.5(EHMT1):c.3011G>A (p.Ser1004Asn) rs138283222
NM_024757.5(EHMT1):c.3016G>A (p.Val1006Met) rs33999936
NM_024757.5(EHMT1):c.3087G>A (p.Val1029=) rs11137244
NM_024757.5(EHMT1):c.316C>G (p.Gln106Glu) rs144603232
NM_024757.5(EHMT1):c.3198C>T (p.Asp1066=) rs367688971
NM_024757.5(EHMT1):c.3218G>A (p.Cys1073Tyr) rs137852726
NM_024757.5(EHMT1):c.3375-9A>C rs73578877
NM_024757.5(EHMT1):c.3377C>T (p.Ala1126Val) rs560251933
NM_024757.5(EHMT1):c.3502C>T (p.Arg1168Ter) rs121918301
NM_024757.5(EHMT1):c.354T>G (p.Ser118=) rs142271310
NM_024757.5(EHMT1):c.3555C>T (p.Tyr1185=) rs398124407
NM_024757.5(EHMT1):c.3589C>T (p.Arg1197Trp)
NM_024757.5(EHMT1):c.369C>T (p.Asn123=) rs770086341
NM_024757.5(EHMT1):c.432C>T (p.Ala144=) rs139461232
NM_024757.5(EHMT1):c.444T>C (p.Pro148=) rs3812497
NM_024757.5(EHMT1):c.480C>T (p.Gly160=) rs150135875
NM_024757.5(EHMT1):c.529G>C (p.Ala177Pro) rs182595609
NM_024757.5(EHMT1):c.576G>A (p.Pro192=) rs574514175
NM_024757.5(EHMT1):c.581C>T (p.Pro194Leu) rs35570782
NM_024757.5(EHMT1):c.673C>T (p.Arg225Ter) rs879255531
NM_024757.5(EHMT1):c.70G>A (p.Glu24Lys) rs373269573
NM_024757.5(EHMT1):c.824-5_824-3del rs34385417
NM_024757.5(EHMT1):c.871C>T (p.Arg291Ter) rs137852714
NM_024757.5(EHMT1):c.905A>G (p.Lys302Arg) rs565065320

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.