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 Variants with at least 2 submissions 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 kind of conflict
108 11 0 17 6 1 4 24

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 association
pathogenic 0 2 2 0 0 0
likely pathogenic 3 0 3 2 1 1
uncertain significance 2 2 0 3 3 0
likely benign 0 1 3 0 14 0
benign 0 0 3 14 0 0

All variants with conflicting interpretations #

Total variants: 24
Download table as spreadsheet
HGVS dbSNP
NM_172364.5(CACNA2D4):c.1068+13G>A rs61386831
NM_172364.5(CACNA2D4):c.1359C>T (p.Tyr453=) rs573565912
NM_172364.5(CACNA2D4):c.1866G>A (p.Pro622=) rs758160
NM_172364.5(CACNA2D4):c.1882C>T (p.Arg628Ter) rs200098356
NM_172364.5(CACNA2D4):c.2046C>G (p.Ala682=) rs116214586
NM_172364.5(CACNA2D4):c.2065A>G (p.Ile689Val) rs76224631
NM_172364.5(CACNA2D4):c.2087A>G (p.His696Arg) rs115228472
NM_172364.5(CACNA2D4):c.2095C>T (p.Leu699Phe) rs151121191
NM_172364.5(CACNA2D4):c.2120G>A (p.Arg707His) rs76064926
NM_172364.5(CACNA2D4):c.2187C>T (p.Asp729=) rs78335326
NM_172364.5(CACNA2D4):c.2189C>T (p.Ala730Val) rs181994120
NM_172364.5(CACNA2D4):c.237A>G (p.Leu79=) rs73038195
NM_172364.5(CACNA2D4):c.2406C>A (p.Tyr802Ter) rs71454844
NM_172364.5(CACNA2D4):c.2649C>T (p.Cys883=) rs184770223
NM_172364.5(CACNA2D4):c.2746G>A (p.Asp916Asn) rs62621429
NM_172364.5(CACNA2D4):c.2793-15G>A rs147575839
NM_172364.5(CACNA2D4):c.2921+7G>C rs202022529
NM_172364.5(CACNA2D4):c.3065C>T (p.Pro1022Leu) rs61741336
NM_172364.5(CACNA2D4):c.3310-4G>A rs80092457
NM_172364.5(CACNA2D4):c.3310-8G>A rs186998620
NM_172364.5(CACNA2D4):c.3330C>T (p.Gly1110=) rs33912216
NM_172364.5(CACNA2D4):c.3356C>T (p.Pro1119Leu) rs145150489
NM_172364.5(CACNA2D4):c.487-4C>T rs60194757
Single allele

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