ClinVar Miner

Variants in gene combination CACNB2, NSUN6 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 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
148 17 0 17 16 0 2 27

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.

likely pathogenic uncertain significance likely benign benign
likely pathogenic 0 2 1 0
uncertain significance 2 0 14 9
likely benign 1 14 0 17
benign 0 9 17 0

All variants with conflicting interpretations #

Total variants: 27
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NM_000724.3(CACNB2):c.1346C>T (p.Thr449Ile) rs143326262
NM_000724.3(CACNB2):c.1426C>T (p.Arg476Cys) rs202152674
NM_000724.3(CACNB2):c.1611C>A (p.Asp537Glu) rs144182966
NM_201571.3(CACNB2):c.1558G>A (p.Gly520Ser) rs730880059
NM_201590.2(CACNB2):c.*10G>T rs4747352
NM_201590.2(CACNB2):c.1044+4_1044+7dupAGTA rs1456201116
NM_201590.2(CACNB2):c.1044+6T>C rs147857449
NM_201590.2(CACNB2):c.1141-4G>A rs765944934
NM_201590.2(CACNB2):c.1356C>T (p.Arg452=) rs34813638
NM_201590.2(CACNB2):c.1359C>T (p.Ser453=) rs143060134
NM_201590.2(CACNB2):c.1391A>C (p.Glu464Ala) rs138060429
NM_201590.2(CACNB2):c.1398T>C (p.Pro466=) rs150280879
NM_201590.2(CACNB2):c.1430G>A (p.Arg477His) rs184280124
NM_201590.2(CACNB2):c.1508C>T (p.Ser503Leu) rs137886839
NM_201590.2(CACNB2):c.1534G>A (p.Ala512Thr) rs202218948
NM_201590.2(CACNB2):c.1539C>T (p.Tyr513=) rs2228645
NM_201590.2(CACNB2):c.1557T>C (p.Asp519=) rs781283574
NM_201590.2(CACNB2):c.1623C>T (p.His541=) rs61733967
NM_201590.2(CACNB2):c.1632T>C (p.Ser544=) rs34503140
NM_201590.2(CACNB2):c.1654C>G (p.Arg552Gly) rs61733968
NM_201590.2(CACNB2):c.1654C>T (p.Arg552Trp) rs61733968
NM_201590.2(CACNB2):c.1803T>G (p.Asp601Glu) rs58225473
NM_201590.2(CACNB2):c.711G>A (p.Leu237=) rs138423466
NM_201590.2(CACNB2):c.753T>C (p.Phe251=) rs149586418
NM_201590.2(CACNB2):c.831G>A (p.Ser277=) rs76956014
NM_201590.2(CACNB2):c.892+7C>T rs4314963
NM_201590.2(CACNB2):c.978T>C (p.His326=) rs151199943

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