ClinVar Miner

Variants in gene PHKB 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
106 4 0 12 17 0 2 24

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 0 1 2 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 2 0 0 16 8
likely benign 0 0 16 0 11
benign 0 0 8 11 0

All variants with conflicting interpretations #

Total variants: 24
Download table as spreadsheet
HGVS dbSNP
NM_000293.3(PHKB):c.1126+14T>G rs28691569
NM_000293.3(PHKB):c.1127-14A>G rs185628131
NM_000293.3(PHKB):c.1363+13G>T rs117536391
NM_000293.3(PHKB):c.1459-9G>T rs201995780
NM_000293.3(PHKB):c.1546C>T (p.Gln516Ter) rs758004953
NM_000293.3(PHKB):c.1746A>G (p.Leu582=) rs111970242
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter) rs34667348
NM_000293.3(PHKB):c.2136G>A (p.Pro712=) rs200274360
NM_000293.3(PHKB):c.2244C>G (p.Leu748=) rs34717357
NM_000293.3(PHKB):c.2278+15C>G rs201402032
NM_000293.3(PHKB):c.2309A>G (p.Tyr770Cys) rs16945474
NM_000293.3(PHKB):c.2433T>G (p.Thr811=) rs187940556
NM_000293.3(PHKB):c.2453_2455AAG[2] (p.Glu820del) rs532057230
NM_000293.3(PHKB):c.2459A>T (p.Glu820Val) rs9934849
NM_000293.3(PHKB):c.3121C>T (p.Arg1041Trp) rs12918964
NM_000293.3(PHKB):c.318T>C (p.Asp106=) rs17738933
NM_000293.3(PHKB):c.352G>C (p.Ala118Pro) rs121918022
NM_000293.3(PHKB):c.400G>A (p.Asp134Asn) rs144486825
NM_000293.3(PHKB):c.491A>G (p.Tyr164Cys) rs144211929
NM_000293.3(PHKB):c.500A>G (p.Tyr167Cys) rs151155518
NM_000293.3(PHKB):c.518A>G (p.Asn173Ser) rs139738333
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827
NM_000293.3(PHKB):c.574A>G (p.Ile192Val) rs117218785
NM_000293.3(PHKB):c.870+10T>A rs144932435

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