ClinVar Miner

Variants in gene GNPTG with conflicting interpretations

See also:
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
708 19 1 13 14 0 3 28

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 6 1 0 0
likely pathogenic 6 0 2 0 0
uncertain significance 1 2 0 14 2
likely benign 0 0 14 0 7
benign 0 0 2 7 0

All variants with conflicting interpretations #

Total variants: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032520.5(GNPTG):c.233+7G>T rs9926432 0.01285
NM_032520.5(GNPTG):c.255G>A (p.Pro85=) rs76594024 0.00606
NM_032520.5(GNPTG):c.910A>G (p.Ser304Gly) rs7187001 0.00332
NM_032520.5(GNPTG):c.318-18G>A rs148378749 0.00190
NM_032520.5(GNPTG):c.741+5C>T rs201263537 0.00183
NM_032520.5(GNPTG):c.702T>C (p.Pro234=) rs532275192 0.00044
NM_032520.5(GNPTG):c.741+6G>A rs371060844 0.00043
NM_032520.5(GNPTG):c.264C>T (p.Asn88=) rs145313679 0.00034
NM_032520.5(GNPTG):c.502G>A (p.Val168Ile) rs190614894 0.00014
NM_032520.5(GNPTG):c.510C>T (p.His170=) rs202240106 0.00011
NM_032520.5(GNPTG):c.887G>A (p.Arg296Gln) rs561640998 0.00010
NM_032520.5(GNPTG):c.713G>A (p.Gly238Glu) rs202080062 0.00009
NM_032520.5(GNPTG):c.238_243del (p.Lys80_Tyr81del) rs773452586 0.00008
NM_032520.5(GNPTG):c.489C>T (p.Phe163=) rs370857842 0.00008
NM_032520.5(GNPTG):c.758C>A (p.Ser253Ter) rs761299690 0.00008
NM_032520.5(GNPTG):c.394C>T (p.Arg132Trp) rs200741370 0.00007
NM_032520.5(GNPTG):c.412-14C>T rs528538033 0.00004
NM_032520.5(GNPTG):c.234-8G>T rs369333639 0.00003
NM_032520.5(GNPTG):c.742-1G>T rs373976323 0.00003
NM_032520.5(GNPTG):c.233+1G>A rs376679416 0.00001
NM_032520.5(GNPTG):c.297C>T (p.Asn99=) rs201045559 0.00001
NM_032520.5(GNPTG):c.316G>A (p.Gly106Ser) rs137852885 0.00001
NM_032520.5(GNPTG):c.234-1G>A rs112850896
NM_032520.5(GNPTG):c.318-1G>A rs193302847
NM_032520.5(GNPTG):c.344ACA[1] (p.Asn116del) rs193302849
NM_032520.5(GNPTG):c.607dup (p.Gln203fs) rs756225251
NM_032520.5(GNPTG):c.610-1G>T rs193302854
NM_032520.5(GNPTG):c.798C>T (p.His266=) rs375787769

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