ClinVar Miner

Variants in gene CASK with conflicting interpretations

See also:
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
169 19 0 12 8 0 2 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 1
likely pathogenic 4 0 0 0 0
uncertain significance 1 0 0 4 6
likely benign 0 0 4 0 8
benign 1 0 6 8 0

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
HGVS dbSNP
NM_003688.3(CASK):c.1077G>A (p.Ala359=) rs145641295
NM_003688.3(CASK):c.1125C>T (p.Phe375=) rs141790702
NM_003688.3(CASK):c.1186C>T (p.Pro396Ser) rs137852820
NM_003688.3(CASK):c.1315-10A>G rs375004542
NM_003688.3(CASK):c.1411G>A (p.Asp471Asn) rs201435578
NM_003688.3(CASK):c.1669-9C>A rs562152407
NM_003688.3(CASK):c.1794C>T (p.Asn598=) rs143991107
NM_003688.3(CASK):c.1922G>A (p.Arg641Lys) rs76106850
NM_003688.3(CASK):c.2040-9A>G rs138290714
NM_003688.3(CASK):c.2129A>G (p.Asp710Gly) rs137852818
NM_003688.3(CASK):c.2160T>C (p.Leu720=) rs757563548
NM_003688.3(CASK):c.2168A>G (p.Tyr723Cys) rs398122844
NM_003688.3(CASK):c.2282G>A (p.Arg761Gln) rs137964936
NM_003688.3(CASK):c.2302+9T>C rs5964007
NM_003688.3(CASK):c.2418C>T (p.His806=) rs371990384
NM_003688.3(CASK):c.2427G>A (p.Ala809=) rs141158465
NM_003688.3(CASK):c.2506-2A>G rs398122845
NM_003688.3(CASK):c.2506-2A>T rs398122845
NM_003688.3(CASK):c.626T>C (p.Leu209Pro) rs1556014749
NM_003688.3(CASK):c.891A>G (p.Lys297=) rs544979992

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