ClinVar Miner

Variants in gene TBX5 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
284 8 0 8 4 0 1 12

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 0 0 0
likely pathogenic 1 0 1 0 0
uncertain significance 0 1 0 3 1
likely benign 0 0 3 0 7
benign 0 0 1 7 0

All variants with conflicting interpretations #

Total variants: 12
Download table as spreadsheet
NM_000192.3(TBX5):c.1234G>A (p.Val412Ile) rs114124210
NM_000192.3(TBX5):c.316A>G (p.Ile106Val) rs147710408
NM_000192.3(TBX5):c.331G>T (p.Asp111Tyr) rs77357563
NM_000192.3(TBX5):c.510+5G>A rs1555226301
NM_000192.3(TBX5):c.55G>T (p.Ala19Ser) rs200461617
NM_000192.3(TBX5):c.663+36G>T rs2236017
NM_000192.3(TBX5):c.786C>T (p.Thr262=) rs375955080
NM_000192.3(TBX5):c.787G>A (p.Val263Met) rs147405081
NM_000192.3(TBX5):c.804C>G (p.Ala268=) rs35110399
NM_000192.3(TBX5):c.827G>A (p.Ser276Asn) rs147977741
NM_000192.3(TBX5):c.836G>A (p.Arg279Gln) rs115178276
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln) rs104894378

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