ClinVar Miner

Variants with conflicting interpretations studied for Intellectual disability, CASK-related, X-linked

Coded as:
Minimum review status of the submission for Intellectual disability, CASK-related, X-linked: Collection method of the submission for Intellectual disability, CASK-related, X-linked:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
353 53 0 30 29 0 4 55

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.

All conditions
Intellectual disability, CASK-related, X-linked pathogenic likely pathogenic uncertain significance likely benign
pathogenic 0 1 1 0
uncertain significance 1 2 0 2
likely benign 0 0 14 0
benign 0 0 13 29

Condition to condition summary #

Total conditions: 5
Download table as spreadsheet
Condition 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
not provided 0 44 0 17 25 0 4 41
not specified 0 17 0 12 5 0 0 17
CASK-related condition 0 6 0 10 0 0 0 10
Abnormality of the nervous system 0 0 0 1 0 0 0 1
CASK-related disorders 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 55
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001367721.1(CASK):c.1034-6C>T rs73470569 0.09241
NM_001367721.1(CASK):c.2040-9A>G rs138290714 0.00595
NM_001367721.1(CASK):c.1077G>A (p.Ala359=) rs145641295 0.00084
NM_001367721.1(CASK):c.2317+9T>C rs5964007 0.00081
NM_001367721.1(CASK):c.1794C>T (p.Asn598=) rs143991107 0.00072
NM_001367721.1(CASK):c.2297G>A (p.Arg766Gln) rs137964936 0.00053
NM_001367721.1(CASK):c.1186C>T (p.Pro396Ser) rs137852820 0.00026
NM_001367721.1(CASK):c.600A>G (p.Val200=) rs147738759 0.00024
NM_001367721.1(CASK):c.356+6T>C rs200402760 0.00022
NM_001367721.1(CASK):c.430-18G>A rs372470833 0.00021
NM_001367721.1(CASK):c.1289G>A (p.Arg430His) rs139731261 0.00020
NM_001367721.1(CASK):c.2040-17C>A rs375693462 0.00020
NM_001367721.1(CASK):c.2409C>T (p.Asn803=) rs375034853 0.00017
NM_001367721.1(CASK):c.1392C>T (p.Thr464=) rs368007414 0.00015
NM_001367721.1(CASK):c.2172T>C (p.Asp724=) rs199730401 0.00013
NM_001367721.1(CASK):c.432C>T (p.Pro144=) rs761142771 0.00012
NM_001367721.1(CASK):c.2433C>T (p.His811=) rs371990384 0.00011
NM_001367721.1(CASK):c.2175T>C (p.Leu725=) rs757563548 0.00009
NM_001367721.1(CASK):c.1718C>T (p.Thr573Ile) rs141840001 0.00008
NM_001367721.1(CASK):c.1332C>T (p.His444=) rs753172505 0.00007
NM_001367721.1(CASK):c.1669-8C>G rs201327474 0.00007
NM_001367721.1(CASK):c.1315-10A>G rs375004542 0.00006
NM_001367721.1(CASK):c.1503+15A>G rs371792840 0.00006
NM_001367721.1(CASK):c.1090A>G (p.Ser364Gly) rs759161435 0.00005
NM_001367721.1(CASK):c.195C>T (p.Ile65=) rs769320891 0.00005
NM_001367721.1(CASK):c.42G>C (p.Leu14=) rs377590077 0.00005
NM_001367721.1(CASK):c.2470C>T (p.Arg824Trp) rs369792621 0.00004
NM_001367721.1(CASK):c.1668+10T>C rs751395675 0.00003
NM_001367721.1(CASK):c.1669-9C>A rs562152407 0.00003
NM_001367721.1(CASK):c.1686T>C (p.Ser562=) rs758121698 0.00003
NM_001367721.1(CASK):c.1922G>A (p.Arg641Lys) rs76106850 0.00003
NM_001367721.1(CASK):c.2508C>T (p.Asp836=) rs375734729 0.00003
NM_001367721.1(CASK):c.1419A>G (p.Pro473=) rs764194945 0.00002
NM_001367721.1(CASK):c.1714C>T (p.Arg572Cys) rs1421702106 0.00002
NM_001367721.1(CASK):c.1390A>G (p.Thr464Ala) rs886042221 0.00001
NM_001367721.1(CASK):c.1503+3A>G rs1468715588 0.00001
NM_001367721.1(CASK):c.2155+4G>A rs749155089 0.00001
NM_001367721.1(CASK):c.2317C>T (p.His773Tyr) rs398123811 0.00001
NM_001367721.1(CASK):c.2325C>T (p.Thr775=) rs760957859 0.00001
NM_001367721.1(CASK):c.2410G>A (p.Glu804Lys) rs751235198 0.00001
NM_001367721.1(CASK):c.279T>C (p.Phe93=) rs1556042440 0.00001
NM_001367721.1(CASK):c.997G>A (p.Glu333Lys) rs1361659361 0.00001
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.1314+5_1314+8del rs772325722
NM_001367721.1(CASK):c.1466G>A (p.Arg489Gln) rs1602292076
NM_001367721.1(CASK):c.1504-6del rs749321162
NM_001367721.1(CASK):c.1669-6dup rs746809939
NM_001367721.1(CASK):c.1669-7C>G rs780719523
NM_001367721.1(CASK):c.2277C>T (p.Leu759=) rs758345399
NM_001367721.1(CASK):c.430-27_430-20del rs200962618
NM_001367721.1(CASK):c.55G>A (p.Gly19Arg) rs727503840
NM_001367721.1(CASK):c.764G>A (p.Arg255His) rs587783369
NM_001367721.1(CASK):c.802T>C (p.Tyr268His) rs137852817
NM_001367721.1(CASK):c.891A>G (p.Lys297=) rs544979992

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