ClinVar Miner

Variants in gene CACNA2D4 with conflicting interpretations

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
420 22 0 1 5 0 6 12

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 0 4 0 0
likely pathogenic 0 0 2 0 1
uncertain significance 4 2 0 3 2
likely benign 0 0 3 0 1
benign 0 1 2 1 0

All variants with conflicting interpretations #

Total variants: 12
Download table as spreadsheet
GRCh37/hg19 12p13.33(chr12:1949889-1986237)x1
GRCh37/hg19 12p13.33(chr12:1950037-1986237)x1
NM_172364.5(CACNA2D4):c.1239G>A (p.Pro413=) rs201783863
NM_172364.5(CACNA2D4):c.1509C>T (p.Ser503=) rs199888783
NM_172364.5(CACNA2D4):c.1882C>T (p.Arg628Ter) rs200098356
NM_172364.5(CACNA2D4):c.2109G>C (p.Glu703Asp) rs77175207
NM_172364.5(CACNA2D4):c.2120G>A (p.Arg707His) rs76064926
NM_172364.5(CACNA2D4):c.2406C>A (p.Tyr802Ter) rs71454844
NM_172364.5(CACNA2D4):c.2516C>T (p.Ala839Val) rs146752598
NM_172364.5(CACNA2D4):c.3356C>T (p.Pro1119Leu) rs145150489
NM_172364.5(CACNA2D4):c.548_554del (p.Leu183fs) rs1210621191
NM_172364.5(CACNA2D4):c.888G>A (p.Val296=) rs192991525

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