ClinVar Miner

Variants in gene HPS4 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
172 16 8 5 3 0 0 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 uncertain significance likely benign benign
pathogenic 8 0 0 0
uncertain significance 0 0 3 1
likely benign 0 3 0 5
benign 0 1 5 0

All variants with conflicting interpretations #

Total variants: 15
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NM_022081.6(HPS4):c.1543T>C (p.Cys515Arg) rs148134252
NM_022081.6(HPS4):c.1883G>A (p.Arg628His) rs78892693
NM_022081.6(HPS4):c.1891C>T (p.Gln631Ter) rs119471021
NM_022081.6(HPS4):c.2079C>T (p.Ser693=) rs138189133
NM_022081.6(HPS4):c.2089_2093dup (p.Lys699fs) rs281865100
NM_022081.6(HPS4):c.250A>G (p.Ile84Val) rs149830675
NM_022081.6(HPS4):c.412G>T (p.Glu138Ter) rs119471024
NM_022081.6(HPS4):c.461A>G (p.His154Arg) rs281865098
NM_022081.6(HPS4):c.541C>T (p.Gln181Ter) rs119471022
NM_022081.6(HPS4):c.557C>T (p.Ser186Leu) rs61729175
NM_022081.6(HPS4):c.649C>T (p.Arg217Ter) rs119471023
NM_022081.6(HPS4):c.664G>T (p.Glu222Ter) rs119471025
NM_022081.6(HPS4):c.710C>T (p.Ala237Val) rs77597168
NM_022081.6(HPS4):c.949_972dup (p.Ala317_Glu324dup) rs281865164
NM_152841.2(HPS4):c.1381C>T (p.Arg461Cys) rs147435410

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