ClinVar Miner

Variants in gene GNPTG 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
293 12 5 1 8 0 3 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 5 0 2 0 0
likely pathogenic 0 0 1 0 0
uncertain significance 2 1 0 8 2
likely benign 0 0 8 0 1
benign 0 0 2 1 0

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
NM_032520.4(GNPTG):c.611delG (p.Gly204Alafs) rs193302856
NM_032520.5(GNPTG):c.196C>T (p.Arg66Ter) rs193302848
NM_032520.5(GNPTG):c.255G>A (p.Pro85=) rs76594024
NM_032520.5(GNPTG):c.264C>T (p.Asn88=) rs145313679
NM_032520.5(GNPTG):c.316G>A (p.Gly106Ser) rs137852885
NM_032520.5(GNPTG):c.333G>A (p.Trp111Ter) rs137852884
NM_032520.5(GNPTG):c.489C>T (p.Phe163=) rs370857842
NM_032520.5(GNPTG):c.640_667del (p.Glu214fs) rs193302859
NM_032520.5(GNPTG):c.67G>C (p.Gly23Arg) rs547624231
NM_032520.5(GNPTG):c.702T>C (p.Pro234=) rs532275192
NM_032520.5(GNPTG):c.713G>A (p.Gly238Glu) rs202080062
NM_032520.5(GNPTG):c.741+5C>T rs201263537
NM_032520.5(GNPTG):c.741+6G>A rs371060844
NM_032520.5(GNPTG):c.742-1G>T rs373976323
NM_032520.5(GNPTG):c.758C>A (p.Ser253Ter) rs761299690
NM_032520.5(GNPTG):c.857C>T (p.Thr286Met) rs193302860

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