ClinVar Miner

Variants in gene HPS5 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 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
90 4 5 8 5 0 2 18

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 1 1 1 1
likely pathogenic 1 0 1 0 0
uncertain significance 1 1 0 4 1
likely benign 1 0 4 0 7
benign 1 0 1 7 0

All variants with conflicting interpretations #

Total variants: 18
Download table as spreadsheet
HGVS dbSNP
NM_007216.4(HPS5):c.1081del (p.Leu361fs) rs766602179
NM_007216.4(HPS5):c.1684_1687del (p.Val562fs) rs281865103
NM_007216.4(HPS5):c.2282del (p.Leu761fs) rs281865105
NM_007216.4(HPS5):c.2586_2587dup (p.Thr863fs) rs397507169
NM_007216.4(HPS5):c.537dup (p.Lys180fs) rs281865101
NM_181507.1(HPS5):c.1165-15C>A rs7128146
NM_181507.1(HPS5):c.1249C>A (p.Leu417Met) rs7128017
NM_181507.1(HPS5):c.139T>C (p.Leu47=) rs73432728
NM_181507.1(HPS5):c.1501G>A (p.Gly501Arg) rs143784823
NM_181507.1(HPS5):c.1635-4C>G rs79009787
NM_181507.1(HPS5):c.1785-13C>T rs73430857
NM_181507.1(HPS5):c.2537C>T (p.Pro846Leu) rs144875223
NM_181507.1(HPS5):c.2593C>T (p.Arg865Ter) rs281865104
NM_181507.1(HPS5):c.3045G>A (p.Met1015Ile) rs61755718
NM_181507.1(HPS5):c.3046G>A (p.Glu1016Lys) rs17853184
NM_181507.1(HPS5):c.3293C>T (p.Thr1098Ile) rs61884288
NM_181507.1(HPS5):c.345G>A (p.Met115Ile) rs149229493
NM_181507.1(HPS5):c.986-5C>T rs201439984

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