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 Variants with at least 2 submissions 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 kind of conflict
159 46 1 19 23 0 2 38

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 2 0 0
uncertain significance 2 1 22 8
likely benign 0 22 0 19
benign 0 8 19 0

All variants with conflicting interpretations #

Total variants: 38
Download table as spreadsheet
HGVS dbSNP
NM_024334.2(TMEM43):c.*8C>T rs192707412
NM_024334.2(TMEM43):c.-3A>T
NM_024334.2(TMEM43):c.1105C>T (p.Leu369Phe) rs144152046
NM_024334.2(TMEM43):c.1111T>C (p.Tyr371His) rs116911972
NM_024334.2(TMEM43):c.1120_1121delCT (p.Leu374Valfs) rs746672224
NM_024334.2(TMEM43):c.1141G>A (p.Gly381Ser) rs767916602
NM_024334.2(TMEM43):c.163-14C>T rs113745859
NM_024334.2(TMEM43):c.163-3delC rs371706980
NM_024334.2(TMEM43):c.164G>A (p.Gly55Asp) rs201453637
NM_024334.2(TMEM43):c.169G>A (p.Ala57Thr) rs151010429
NM_024334.2(TMEM43):c.222C>T (p.Pro74=) rs34099410
NM_024334.2(TMEM43):c.246G>A (p.Pro82=) rs376098518
NM_024334.2(TMEM43):c.271A>G (p.Ile91Val) rs144811578
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.333G>A (p.Pro111=) rs774276092
NM_024334.2(TMEM43):c.347G>A (p.Arg116Gln) rs143535006
NM_024334.2(TMEM43):c.424G>A (p.Glu142Lys) rs145619906
NM_024334.2(TMEM43):c.45C>A (p.Val15=) rs150334659
NM_024334.2(TMEM43):c.504A>T (p.Lys168Asn) rs4685076
NM_024334.2(TMEM43):c.536T>C (p.Met179Thr) rs2340917
NM_024334.2(TMEM43):c.564C>T (p.Gly188=) rs143124744
NM_024334.2(TMEM43):c.579G>A (p.Ser193=) rs369319499
NM_024334.2(TMEM43):c.692C>T (p.Pro231Leu) rs533275736
NM_024334.2(TMEM43):c.698A>G (p.Tyr233Cys) rs35924492
NM_024334.2(TMEM43):c.705+7G>A rs201916031
NM_024334.2(TMEM43):c.750C>T (p.Gly250=) rs374222050
NM_024334.2(TMEM43):c.777C>T (p.His259=) rs143958148
NM_024334.2(TMEM43):c.797G>A (p.Arg266Gln) rs193922707
NM_024334.2(TMEM43):c.798G>A (p.Arg266=) rs139078900
NM_024334.2(TMEM43):c.802C>T (p.Arg268Trp) rs201138253
NM_024334.2(TMEM43):c.82C>T (p.Arg28Trp) rs35028636
NM_024334.2(TMEM43):c.896G>C (p.Arg299Thr) rs139590716
NM_024334.2(TMEM43):c.909C>T (p.Ser303=) rs35100587
NM_024334.2(TMEM43):c.934C>T (p.Arg312Trp) rs113449357
NM_024334.2(TMEM43):c.953C>T (p.Ala318Val) rs11924644
NM_024334.2(TMEM43):c.98C>T (p.Ser33Leu) rs539753097
NM_024334.2(TMEM43):c.99G>A (p.Ser33=) rs147710692

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