ClinVar Miner

Variants in gene TMEM43 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
419 39 0 17 8 0 2 25

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 0 0 1 0
likely pathogenic 0 0 1 0 0
uncertain significance 0 1 0 8 2
likely benign 1 0 8 0 17
benign 0 0 2 17 0

All variants with conflicting interpretations #

Total variants: 25
Download table as spreadsheet
HGVS dbSNP
NM_024334.2(TMEM43):c.-3A>T rs763829810
NM_024334.2(TMEM43):c.1061G>C (p.Cys354Ser) rs187262922
NM_024334.2(TMEM43):c.169G>A (p.Ala57Thr) rs151010429
NM_024334.2(TMEM43):c.279C>T (p.Gly93=) rs149883381
NM_024334.2(TMEM43):c.286C>G (p.Arg96Gly) rs754797146
NM_024334.2(TMEM43):c.347G>A (p.Arg116Gln) rs143535006
NM_024334.2(TMEM43):c.392+16G>A rs150859949
NM_024334.2(TMEM43):c.802C>T (p.Arg268Trp) rs201138253
NM_024334.2(TMEM43):c.864C>T (p.His288=) rs377585035
NM_024334.2(TMEM43):c.896G>C (p.Arg299Thr) rs139590716
NM_024334.2(TMEM43):c.99G>A (p.Ser33=) rs147710692
NM_024334.3(TMEM43):c.*8C>T rs192707412
NM_024334.3(TMEM43):c.1021C>T (p.Arg341Ter) rs778127887
NM_024334.3(TMEM43):c.1105C>T (p.Leu369Phe) rs144152046
NM_024334.3(TMEM43):c.1111T>C (p.Tyr371His) rs116911972
NM_024334.3(TMEM43):c.222C>T (p.Pro74=) rs34099410
NM_024334.3(TMEM43):c.271A>G (p.Ile91Val) rs144811578
NM_024334.3(TMEM43):c.402C>T (p.Thr134=) rs370422391
NM_024334.3(TMEM43):c.424G>A (p.Glu142Lys) rs145619906
NM_024334.3(TMEM43):c.45C>A (p.Val15=) rs150334659
NM_024334.3(TMEM43):c.705+7G>A rs201916031
NM_024334.3(TMEM43):c.829A>T (p.Thr277Ser) rs532872056
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp) rs35028636
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp) rs113449357
NM_024334.3(TMEM43):c.953C>T (p.Ala318Val) rs11924644

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