ClinVar Miner

Variants in gene CTNS 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
341 33 4 11 6 0 1 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 4 9 0 0 1
likely pathogenic 9 0 0 0 0
uncertain significance 0 0 0 4 2
likely benign 0 0 4 0 2
benign 1 0 2 2 0

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
GRCh38/hg38 17p13.2(chr17:3640170-3656795)x1
NM_004937.3(CTNS):c.124G>A (p.Val42Ile) rs35086888
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del) rs113994204
NM_004937.3(CTNS):c.382C>T (p.Gln128Ter) rs550254092
NM_004937.3(CTNS):c.414G>A (p.Trp138Ter) rs113994205
NM_004937.3(CTNS):c.416C>T (p.Ser139Phe) rs267606754
NM_004937.3(CTNS):c.422C>T (p.Ser141Phe) rs1436441738
NM_004937.3(CTNS):c.462-7C>A rs189632527
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro) rs113994206
NM_004937.3(CTNS):c.534C>T (p.Ile178=) rs113967200
NM_004937.3(CTNS):c.559_561+24del rs113994211
NM_004937.3(CTNS):c.561+1del rs786204667
NM_004937.3(CTNS):c.561+4C>T rs111256750
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg) rs113994207
NM_004937.3(CTNS):c.621C>T (p.Phe207=) rs749428707
NM_004937.3(CTNS):c.771_793del (p.Gly258fs) rs759623796
NM_004937.3(CTNS):c.834G>A (p.Leu278=) rs139519275
NM_004937.3(CTNS):c.852+8C>T rs780856527
NM_004937.3(CTNS):c.853-3C>G rs113994210
NM_004937.3(CTNS):c.897T>C (p.Ile299=) rs199824920

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