ClinVar Miner

Variants in gene CASQ2 with conflicting interpretations

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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
268 20 1 9 10 0 0 17

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 1 2 0 0 0
likely pathogenic 2 0 0 0 0
uncertain significance 0 0 0 8 4
likely benign 0 0 8 0 7
benign 0 0 4 7 0

All variants with conflicting interpretations #

Total variants: 17
Download table as spreadsheet
NM_001232.3(CASQ2):c.919G>C (p.Asp307His) rs121434549
NM_001232.3(CASQ2):c.923C>T (p.Pro308Leu) rs139228801
NM_001232.3(CASQ2):c.97C>T (p.Arg33Ter) rs397507556
NM_001232.4(CASQ2):c.1131A>T (p.Glu377Asp) rs148824162
NM_001232.4(CASQ2):c.1132GAT[5] (p.Asp383del) rs72554069
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del) rs397516641
NM_001232.4(CASQ2):c.1188TGA[2] (p.Asp398del) rs72554070
NM_001232.4(CASQ2):c.198G>A (p.Thr66=) rs74114618
NM_001232.4(CASQ2):c.226G>A (p.Val76Met) rs10801999
NM_001232.4(CASQ2):c.270C>A (p.Gly90=) rs72554056
NM_001232.4(CASQ2):c.421-14G>A rs139281637
NM_001232.4(CASQ2):c.421-15C>G rs199939582
NM_001232.4(CASQ2):c.481A>G (p.Ile161Val) rs146333579
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu) rs146664754
NM_001232.4(CASQ2):c.730C>T (p.His244Tyr) rs142036299
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716
NM_001232.4(CASQ2):c.861C>A (p.Ile287=) rs143718767

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