ClinVar Miner

Variants in gene TMEM216 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 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
34 25 2 10 6 0 1 16

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 1 5 1 0 0
likely pathogenic 5 1 0 0 0
uncertain significance 1 0 0 5 2
likely benign 0 0 5 0 5
benign 0 0 2 5 0

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_001173990.3(TMEM216):c.*21A>G rs111371929
NM_001173990.3(TMEM216):c.-24C>G rs59493015
NM_001173990.3(TMEM216):c.-24C>T rs59493015
NM_001173990.3(TMEM216):c.-2G>T rs7107543
NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu) rs57932685
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys) rs779526456
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001173990.3(TMEM216):c.253C>A (p.Arg85=) rs11230683
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter) rs11230683
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265
NM_001173990.3(TMEM216):c.35-17C>T rs147953784
NM_001173990.3(TMEM216):c.358A>G (p.Met120Val) rs200289511
NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter) rs755459875
NM_001173990.3(TMEM216):c.420T>C (p.Ala140=) rs749351351
NM_016499.5(TMEM216):c.158T>G (p.Leu53Arg) rs386833831
NM_016499.5(TMEM216):c.47G>C (p.Gly16Ala) rs386833830

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