ClinVar Miner

Variants in gene PDE6B 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 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
405 34 1 8 7 0 5 20

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 4 1 0 0
likely pathogenic 4 1 4 0 0
uncertain significance 1 4 0 6 2
likely benign 0 0 6 0 4
benign 0 0 2 4 0

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
NM_000283.3(PDE6B):c.1107+3A>G rs370898371
NM_000283.3(PDE6B):c.1401+7_1401+8insA rs537010934
NM_000283.3(PDE6B):c.145G>T (p.Asp49Tyr) rs79826315
NM_000283.3(PDE6B):c.1576G>A (p.Glu526Lys) rs527236091
NM_000283.3(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981
NM_000283.3(PDE6B):c.1699C>T (p.Gln567Ter) rs772057239
NM_000283.3(PDE6B):c.1726G>A (p.Gly576Ser) rs753925314
NM_000283.3(PDE6B):c.1832+1G>T rs370758397
NM_000283.3(PDE6B):c.2289G>A (p.Lys763=) rs61739716
NM_000283.3(PDE6B):c.2344G>A (p.Val782Met) rs145124626
NM_000283.3(PDE6B):c.267C>T (p.Ala89=) rs147181781
NM_000283.3(PDE6B):c.299G>A (p.Arg100His) rs555600300
NM_000283.3(PDE6B):c.482G>A (p.Ser161Asn) rs574098823
NM_000283.3(PDE6B):c.655T>C (p.Tyr219His) rs62295357
NM_000283.3(PDE6B):c.739T>A (p.Phe247Ile) rs780521818
NM_000283.3(PDE6B):c.794G>A (p.Arg265Gln) rs144562730
NM_000283.3(PDE6B):c.905G>A (p.Gly302Asp) rs146646008
NM_000283.3(PDE6B):c.928-9_940dup rs539992414
NM_001145291.1(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs) rs869312177

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