ClinVar Miner

Variants in gene NPC2 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
29 4 7 4 2 0 4 15

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 7 2 3 0 0
likely pathogenic 2 0 0 1 1
uncertain significance 3 0 0 2 0
likely benign 0 1 2 0 2
benign 0 1 0 2 0

All variants with conflicting interpretations #

Total variants: 15
Download table as spreadsheet
HGVS dbSNP
NM_006432.3(NPC2):c.27delG (p.Leu10Serfs) rs80358267
NM_006432.3(NPC2):c.332delA (p.Asn111Ilefs) rs80358265
NM_006432.3(NPC2):c.436C>T (p.Gln146Ter) rs104894457
NM_006432.3(NPC2):c.442-4A>C rs114950106
NM_006432.3(NPC2):c.58G>T (p.Glu20Ter) rs80358260
NM_006432.4(NPC2):c.115G>A (p.Val39Met) rs80358261
NM_006432.4(NPC2):c.133C>T (p.Gln45Ter) rs80358262
NM_006432.4(NPC2):c.141C>A (p.Cys47Ter) rs80358263
NM_006432.4(NPC2):c.190+14G>A rs189666920
NM_006432.4(NPC2):c.190+5G>A rs80358268
NM_006432.4(NPC2):c.199T>C (p.Ser67Pro) rs11694
NM_006432.4(NPC2):c.352G>T (p.Glu118Ter) rs80358266
NM_006432.4(NPC2):c.363+7G>A rs200463204
NM_006432.4(NPC2):c.441+1G>A rs140130028
NM_006432.4(NPC2):c.88G>A (p.Val30Met) rs151220873

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