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 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
269 29 0 12 17 0 1 26

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 0 0 1
likely pathogenic 1 0 0 0 0
uncertain significance 0 0 0 12 9
likely benign 0 0 12 0 11
benign 1 0 9 11 0

All variants with conflicting interpretations #

Total variants: 26
Download table as spreadsheet
HGVS dbSNP
NM_001367721.1(CASK):c.1077G>A (p.Ala359=) rs145641295
NM_001367721.1(CASK):c.1186C>T (p.Pro396Ser) rs137852820
NM_001367721.1(CASK):c.1215A>G (p.Ala405=) rs1555989329
NM_001367721.1(CASK):c.1224A>G (p.Arg408=) rs1555989321
NM_001367721.1(CASK):c.1315-10A>G rs375004542
NM_001367721.1(CASK):c.1392C>T (p.Thr464=) rs368007414
NM_001367721.1(CASK):c.1411G>A (p.Asp471Asn) rs201435578
NM_001367721.1(CASK):c.1419A>G (p.Pro473=) rs764194945
NM_001367721.1(CASK):c.1669-12dup rs746809939
NM_001367721.1(CASK):c.1669-9C>A rs562152407
NM_001367721.1(CASK):c.1718C>T (p.Thr573Ile) rs141840001
NM_001367721.1(CASK):c.1794C>T (p.Asn598=) rs143991107
NM_001367721.1(CASK):c.1922G>A (p.Arg641Lys) rs76106850
NM_001367721.1(CASK):c.2040-9A>G rs138290714
NM_001367721.1(CASK):c.2074C>T (p.Gln692Ter) rs587783361
NM_001367721.1(CASK):c.2172T>C (p.Asp724=) rs199730401
NM_001367721.1(CASK):c.2175T>C (p.Leu725=) rs757563548
NM_001367721.1(CASK):c.2277C>T (p.Leu759=) rs758345399
NM_001367721.1(CASK):c.2297G>A (p.Arg766Gln) rs137964936
NM_001367721.1(CASK):c.2317+9T>C rs5964007
NM_001367721.1(CASK):c.2433C>T (p.His811=) rs371990384
NM_001367721.1(CASK):c.279T>C (p.Phe93=) rs1556042440
NM_001367721.1(CASK):c.356+6T>C rs200402760
NM_001367721.1(CASK):c.42G>C (p.Leu14=) rs377590077
NM_001367721.1(CASK):c.82C>T (p.Arg28Ter) rs587783370
NM_001367721.1(CASK):c.891A>G (p.Lys297=) rs544979992

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