ClinVar Miner

Variants in gene EHMT1 with conflicting interpretations

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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
290 43 4 34 24 0 0 58

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 4 1 0 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 0 0 0 22 6
likely benign 0 0 22 0 33
benign 0 0 6 33 0

All variants with conflicting interpretations #

Total variants: 58
Download table as spreadsheet
HGVS dbSNP
NM_024757.4(EHMT1):c.1044G>A (p.Ser348=) rs1129767
NM_024757.4(EHMT1):c.1089T>C (p.Gly363=) rs1129768
NM_024757.4(EHMT1):c.1135A>G (p.Lys379Glu) rs146711478
NM_024757.4(EHMT1):c.1162G>A (p.Ala388Thr) rs11137198
NM_024757.4(EHMT1):c.1249-9G>T rs73669157
NM_024757.4(EHMT1):c.128C>G (p.Ala43Gly) rs79514677
NM_024757.4(EHMT1):c.129A>T (p.Ala43=) rs76684726
NM_024757.4(EHMT1):c.1360G>A (p.Gly454Ser) rs774046148
NM_024757.4(EHMT1):c.1368C>T (p.Leu456=) rs45450992
NM_024757.4(EHMT1):c.1369+9C>T rs146125583
NM_024757.4(EHMT1):c.1402G>A (p.Ala468Thr) rs202097707
NM_024757.4(EHMT1):c.148G>A (p.Ala50Thr) rs78104547
NM_024757.4(EHMT1):c.150G>A (p.Ala50=) rs371344592
NM_024757.4(EHMT1):c.159G>T (p.Glu53Asp) rs202066668
NM_024757.4(EHMT1):c.1655G>A (p.Arg552Gln) rs747623277
NM_024757.4(EHMT1):c.183C>T (p.Ser61=) rs774448433
NM_024757.4(EHMT1):c.1865A>G (p.Asn622Ser) rs184814386
NM_024757.4(EHMT1):c.1869C>T (p.Asn623=) rs7868455
NM_024757.4(EHMT1):c.1947G>A (p.Ser649=) rs139206060
NM_024757.4(EHMT1):c.1950C>T (p.Thr650=) rs199839806
NM_024757.4(EHMT1):c.211A>G (p.Lys71Glu) rs794727519
NM_024757.4(EHMT1):c.2186C>T (p.Ser729Leu) rs398124404
NM_024757.4(EHMT1):c.2193-1G>C rs137852720
NM_024757.4(EHMT1):c.251G>A (p.Gly84Asp) rs142887098
NM_024757.4(EHMT1):c.2595C>T (p.Asp865=) rs780742937
NM_024757.4(EHMT1):c.2695A>G (p.Ile899Val) rs144085805
NM_024757.4(EHMT1):c.271A>T (p.Ile91Leu) rs144949902
NM_024757.4(EHMT1):c.2922G>A (p.Thr974=) rs748716122
NM_024757.4(EHMT1):c.3000C>T (p.Pro1000=) rs35943616
NM_024757.4(EHMT1):c.3011G>A (p.Ser1004Asn) rs138283222
NM_024757.4(EHMT1):c.3016G>A (p.Val1006Met) rs33999936
NM_024757.4(EHMT1):c.3028G>A (p.Val1010Met) rs200237137
NM_024757.4(EHMT1):c.3087G>A (p.Val1029=) rs11137244
NM_024757.4(EHMT1):c.3123C>G (p.Val1041=) rs141527497
NM_024757.4(EHMT1):c.316C>G (p.Gln106Glu) rs144603232
NM_024757.4(EHMT1):c.3180+10G>A rs113676865
NM_024757.4(EHMT1):c.3180+10G>T rs113676865
NM_024757.4(EHMT1):c.3198C>T (p.Asp1066=) rs367688971
NM_024757.4(EHMT1):c.3218G>A (p.Cys1073Tyr) rs137852726
NM_024757.4(EHMT1):c.3355G>A (p.Val1119Ile)
NM_024757.4(EHMT1):c.3375-9A>C rs73578877
NM_024757.4(EHMT1):c.3502C>T (p.Arg1168Ter) rs121918301
NM_024757.4(EHMT1):c.354T>G (p.Ser118=) rs142271310
NM_024757.4(EHMT1):c.3555C>T (p.Tyr1185=) rs398124407
NM_024757.4(EHMT1):c.3589C>T (p.Arg1197Trp) rs137852727
NM_024757.4(EHMT1):c.363C>T (p.Gly121=) rs144352877
NM_024757.4(EHMT1):c.3735C>T (p.Arg1245=) rs141797498
NM_024757.4(EHMT1):c.432C>T (p.Ala144=) rs139461232
NM_024757.4(EHMT1):c.444T>C (p.Pro148=) rs3812497
NM_024757.4(EHMT1):c.480C>T (p.Gly160=) rs150135875
NM_024757.4(EHMT1):c.499G>A (p.Ala167Thr) rs141282876
NM_024757.4(EHMT1):c.526C>T (p.Pro176Ser) rs34704821
NM_024757.4(EHMT1):c.576G>A (p.Pro192=) rs574514175
NM_024757.4(EHMT1):c.581C>T (p.Pro194Leu) rs35570782
NM_024757.4(EHMT1):c.70G>A (p.Glu24Lys) rs373269573
NM_024757.4(EHMT1):c.824-5_824-3delTTT rs34385417
NM_024757.4(EHMT1):c.871C>T (p.Arg291Ter) rs137852714
NM_024757.4(EHMT1):c.905A>G (p.Lys302Arg) rs565065320

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