ClinVar Miner

Variants in gene MYL2 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 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
352 48 0 19 7 0 10 33

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 4 4 1 0
likely pathogenic 4 0 7 1 0
uncertain significance 4 7 0 7 1
likely benign 1 1 7 0 15
benign 0 0 1 15 0

All variants with conflicting interpretations #

Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000432.4(MYL2):c.381G>A (p.Ala127=) rs2233261 0.00558
NM_000432.4(MYL2):c.170-19T>C rs115522476 0.00399
NM_000432.4(MYL2):c.279G>A (p.Ala93=) rs28645088 0.00131
NM_000432.4(MYL2):c.141C>A (p.Asn47Lys) rs199474808 0.00038
NM_000432.4(MYL2):c.342G>A (p.Leu114=) rs199572927 0.00032
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258 0.00029
NM_000432.4(MYL2):c.275-14G>C rs375703502 0.00025
NM_000432.4(MYL2):c.353+12C>A rs186323458 0.00022
NM_000432.4(MYL2):c.243G>T (p.Val81=) rs368851472 0.00015
NM_000432.4(MYL2):c.359G>A (p.Arg120Gln) rs192057022 0.00009
NM_000432.4(MYL2):c.275-7G>A rs373241541 0.00006
NM_000432.4(MYL2):c.456C>T (p.Tyr152=) rs199815885 0.00005
NM_000432.4(MYL2):c.353+16G>A rs572363699 0.00004
NM_000432.4(MYL2):c.403-1G>C rs199474813 0.00004
NM_000432.4(MYL2):c.163G>T (p.Ala55Ser) rs727504425 0.00002
NM_000432.4(MYL2):c.184A>T (p.Lys62Ter) rs201728041 0.00002
NM_000432.4(MYL2):c.222G>A (p.Pro74=) rs372644111 0.00002
NM_000432.4(MYL2):c.355G>A (p.Val119Ile) rs730880940 0.00002
NM_000432.4(MYL2):c.125G>A (p.Gly42Asp) rs863225117 0.00001
NM_000432.4(MYL2):c.173G>A (p.Arg58Gln) rs104894369 0.00001
NM_000432.4(MYL2):c.275-12G>A rs750937792 0.00001
NM_000432.4(MYL2):c.188del (p.Asn63fs) rs1177936172
NM_000432.4(MYL2):c.274+16_274+17insTC rs200007468
NM_000432.4(MYL2):c.274+9GT[10] rs142567411
NM_000432.4(MYL2):c.275-16C>G rs1377138024
NM_000432.4(MYL2):c.286G>A (p.Glu96Lys) rs2136770901
NM_000432.4(MYL2):c.308T>G (p.Phe103Cys) rs547860537
NM_000432.4(MYL2):c.353+51C>A rs2233260
NM_000432.4(MYL2):c.402+8G>T rs886048959
NM_000432.4(MYL2):c.431_432del (p.Pro144fs) rs1566147422
NM_000432.4(MYL2):c.483C>A (p.His161Gln) rs886039108
NM_000432.4(MYL2):c.484G>A (p.Gly162Arg) rs199474814
NM_000432.4(MYL2):c.488A>G (p.Glu163Gly) rs397516407

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