ClinVar Miner

Variants with conflicting interpretations studied for Kleefstra syndrome 1

Coded as:
Minimum review status of the submission for Kleefstra syndrome 1: Collection method of the submission for Kleefstra syndrome 1:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
1647 46 0 9 27 0 1 37

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.

All conditions
Kleefstra syndrome 1 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 4 1 0 0
likely pathogenic 4 0 0 0 0
uncertain significance 1 0 0 16 11
likely benign 0 0 16 0 5
benign 0 0 11 5 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition 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
Kleefstra syndrome 1 1647 46 0 9 27 0 1 37

All variants with conflicting interpretations #

Total variants: 37
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024757.5(EHMT1):c.526C>T (p.Pro176Ser) rs34704821 0.00856
NM_024757.5(EHMT1):c.1249-9G>T rs73669157 0.00552
NM_024757.5(EHMT1):c.204T>C (p.Asn68=) rs3812496 0.00043
NM_024757.5(EHMT1):c.311C>T (p.Ala104Val) rs142199482 0.00026
NM_024757.5(EHMT1):c.1140G>C (p.Glu380Asp) rs368995503 0.00013
NM_024757.5(EHMT1):c.2039C>T (p.Ser680Leu) rs147523309 0.00013
NM_024757.5(EHMT1):c.1081G>A (p.Gly361Ser) rs143891279 0.00010
NM_024757.5(EHMT1):c.3848A>C (p.Glu1283Ala) rs398124408 0.00009
NM_024757.5(EHMT1):c.70G>A (p.Glu24Lys) rs373269573 0.00009
NM_024757.5(EHMT1):c.1148C>T (p.Ser383Leu) rs771654748 0.00007
NM_024757.5(EHMT1):c.1433G>A (p.Gly478Glu) rs376787713 0.00006
NM_024757.5(EHMT1):c.149C>T (p.Ala50Val) rs143155406 0.00006
NM_024757.5(EHMT1):c.3375G>C (p.Arg1125Ser) rs764006601 0.00006
NM_024757.5(EHMT1):c.3322G>A (p.Ala1108Thr) rs199780189 0.00003
NM_024757.5(EHMT1):c.1319C>T (p.Pro440Leu) rs146814571 0.00002
NM_024757.5(EHMT1):c.183C>T (p.Ser61=) rs774448433 0.00002
NM_024757.5(EHMT1):c.463C>G (p.Leu155Val) rs1003872402 0.00002
NM_024757.5(EHMT1):c.713A>G (p.Asn238Ser) rs1004363452 0.00002
NM_024757.5(EHMT1):c.1181A>C (p.Glu394Ala) rs773281152 0.00001
NM_024757.5(EHMT1):c.1814C>T (p.Pro605Leu) rs373640528 0.00001
NM_024757.5(EHMT1):c.23C>T (p.Ala8Val) rs375391530 0.00001
NM_024757.5(EHMT1):c.376A>G (p.Ile126Val) rs773781896 0.00001
NM_024757.5(EHMT1):c.510G>T (p.Gln170His) rs1308431693 0.00001
NM_024757.5(EHMT1):c.592G>A (p.Val198Ile) rs761554206 0.00001
NM_024757.5(EHMT1):c.110G>A (p.Gly37Asp) rs1300327079
NM_024757.5(EHMT1):c.2110C>T (p.Leu704Phe) rs866512456
NM_024757.5(EHMT1):c.216C>A (p.His72Gln) rs374930132
NM_024757.5(EHMT1):c.2426C>T (p.Pro809Leu) rs587780332
NM_024757.5(EHMT1):c.2803G>A (p.Val935Met) rs762121901
NM_024757.5(EHMT1):c.2839G>A (p.Ala947Thr) rs797045555
NM_024757.5(EHMT1):c.324C>G (p.His108Gln) rs574402576
NM_024757.5(EHMT1):c.3459C>T (p.Cys1153=) rs2132793967
NM_024757.5(EHMT1):c.3502C>T (p.Arg1168Ter) rs121918301
NM_024757.5(EHMT1):c.3853G>C (p.Gly1285Arg)
NM_024757.5(EHMT1):c.673C>T (p.Arg225Ter) rs879255531
NM_024757.5(EHMT1):c.736C>T (p.Arg246Ter) rs1474604202
NM_024757.5(EHMT1):c.91C>T (p.Pro31Ser) rs759512176

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