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 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
63 78 1 10 6 0 3 19

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 3 0 0 0
likely pathogenic 3 1 2 1 0
uncertain significance 0 2 0 6 1
likely benign 0 1 6 0 7
benign 0 0 1 7 0

All variants with conflicting interpretations #

Total variants: 19
Download table as spreadsheet
HGVS dbSNP
NM_000283.3(PDE6B):c.132C>G (p.Cys44Trp) rs199974771
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.1678C>T (p.Arg560Cys) rs201541131
NM_000283.3(PDE6B):c.1923_1969del47insTCTGGG (p.Asn643Glyfs) rs869312177
NM_000283.3(PDE6B):c.2326G>A (p.Asp776Asn) rs141563823
NM_000283.3(PDE6B):c.2344G>A (p.Val782Met) rs145124626
NM_000283.3(PDE6B):c.291C>A (p.Tyr97Ter) rs876657718
NM_000283.3(PDE6B):c.482G>A (p.Ser161Asn) rs574098823
NM_000283.3(PDE6B):c.615C>T (p.Asp205=) rs149293844
NM_000283.3(PDE6B):c.655T>C (p.Tyr219His) rs62295357
NM_000283.3(PDE6B):c.711+10C>T rs201100689
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.873T>C (p.Ser291=) rs142597807
NM_000283.3(PDE6B):c.905G>A (p.Gly302Asp) rs146646008
NM_000283.3(PDE6B):c.928-9_940dup rs1553809300

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