ClinVar Miner

Variants in gene NKX2-5 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
199 13 0 7 7 0 3 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 likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 2 1 1
likely pathogenic 1 0 1 0 0
uncertain significance 2 1 0 6 3
likely benign 1 0 6 0 6
benign 1 0 3 6 0

All variants with conflicting interpretations #

Total variants: 14
Download table as spreadsheet
NM_004387.4(NKX2-5):c.114G>A (p.Glu38=) rs151314714
NM_004387.4(NKX2-5):c.237G>C (p.Pro79=) rs72554029
NM_004387.4(NKX2-5):c.334+1G>T rs876661380
NM_004387.4(NKX2-5):c.355G>T (p.Ala119Ser) rs137852684
NM_004387.4(NKX2-5):c.443del (p.Ala148fs) rs876661381
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=) rs72554028
NM_004387.4(NKX2-5):c.606G>C (p.Leu202=) rs3729753
NM_004387.4(NKX2-5):c.61G>C (p.Glu21Gln) rs104893904
NM_004387.4(NKX2-5):c.627GCC[6] (p.Pro214dup) rs746833511
NM_004387.4(NKX2-5):c.65A>G (p.Gln22Arg) rs201442000
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys) rs28936670
NM_004387.4(NKX2-5):c.809G>A (p.Cys270Tyr) rs587782931
NM_004387.4(NKX2-5):c.861C>T (p.Ala287=) rs77612903
NM_004387.4(NKX2-5):c.943G>T (p.Val315Leu) rs201249977

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