ClinVar Miner

Variants in gene MYLK2 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 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
216 22 0 8 6 0 1 14

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 uncertain significance likely benign benign
pathogenic 0 0 1 0
uncertain significance 0 0 6 1
likely benign 1 6 0 8
benign 0 1 8 0

All variants with conflicting interpretations #

Total variants: 14
Download table as spreadsheet
NM_033118.3(MYLK2):c.1356G>A (p.Glu452=) rs147329431
NM_033118.4(MYLK2):c.102A>G (p.Lys34=) rs28763880
NM_033118.4(MYLK2):c.1295+4C>A rs113936360
NM_033118.4(MYLK2):c.1308C>T (p.Asn436=) rs369603764
NM_033118.4(MYLK2):c.1584G>A (p.Arg528=) rs55807353
NM_033118.4(MYLK2):c.173C>A (p.Ala58Asp) rs138130914
NM_033118.4(MYLK2):c.284C>A (p.Ala95Glu) rs121908108
NM_033118.4(MYLK2):c.417C>T (p.Ala139=) rs560951755
NM_033118.4(MYLK2):c.430C>G (p.Pro144Ala) rs34396614
NM_033118.4(MYLK2):c.4G>A (p.Ala2Thr) rs117502839
NM_033118.4(MYLK2):c.557C>T (p.Thr186Met) rs727504591
NM_033118.4(MYLK2):c.783G>A (p.Pro261=) rs144621796
NM_033118.4(MYLK2):c.834T>A (p.Asn278Lys) rs41293104
NM_033118.4(MYLK2):c.972+14G>A rs193922713

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