ClinVar Miner

Variants in gene TWNK 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
63 52 4 5 2 0 5 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 4 3 2 1 0
likely pathogenic 3 0 2 0 0
uncertain significance 2 2 0 2 0
likely benign 1 0 2 0 2
benign 0 0 0 2 0

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_021830.4(TWNK):c.1003C>A (p.Pro335Thr) rs1554887028
NM_021830.4(TWNK):c.1120C>T (p.Arg374Trp) rs267606682
NM_021830.4(TWNK):c.1121G>A (p.Arg374Gln) rs1554887097
NM_021830.4(TWNK):c.1172G>A (p.Arg391His) rs556445621
NM_021830.4(TWNK):c.1196A>G (p.Asn399Ser) rs863223921
NM_021830.4(TWNK):c.1366C>G (p.Leu456Val) rs386834145
NM_021830.4(TWNK):c.1370C>T (p.Thr457Ile) rs80356544
NM_021830.4(TWNK):c.1519G>A (p.Val507Ile) rs369588002
NM_021830.4(TWNK):c.1523A>G (p.Tyr508Cys) rs80356540
NM_021830.4(TWNK):c.1697A>G (p.Lys566Arg) rs116046810
NM_021830.4(TWNK):c.1735-14C>A rs201795189
NM_021830.4(TWNK):c.247C>T (p.Pro83Ser) rs386834147
NM_021830.4(TWNK):c.639C>T (p.Gly213=) rs11542130
NM_021830.4(TWNK):c.737A>G (p.Asn246Ser) rs754081544
NM_021830.4(TWNK):c.952G>A (p.Ala318Thr) rs80356542
NM_021830.4(TWNK):c.955A>G (p.Lys319Glu) rs80356543

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