ClinVar Miner

Variants in gene CACNA1S 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
869 70 4 19 9 1 0 33

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 uncertain significance likely benign benign drug response
pathogenic 4 0 0 0 1
uncertain significance 0 0 7 2 0
likely benign 0 7 0 19 0
benign 0 2 19 0 0
drug response 1 0 0 0 0

All variants with conflicting interpretations #

Total variants: 33
Download table as spreadsheet
HGVS dbSNP
NM_000069.3(CACNA1S):c.1385G>A (p.Arg462His) rs146696298
NM_000069.3(CACNA1S):c.1452C>T (p.Tyr484=) rs144206959
NM_000069.3(CACNA1S):c.1493G>A (p.Arg498His) rs150590855
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His) rs80338777
NM_000069.3(CACNA1S):c.1629G>T (p.Thr543=) rs143999390
NM_000069.3(CACNA1S):c.1670G>A (p.Arg557His) rs4915212
NM_000069.3(CACNA1S):c.1711G>A (p.Val571Ile) rs114191482
NM_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn) rs142356235
NM_000069.3(CACNA1S):c.1948+10C>G rs201173419
NM_000069.3(CACNA1S):c.2099C>T (p.Thr700Met) rs147112322
NM_000069.3(CACNA1S):c.2361-13C>T rs2182117
NM_000069.3(CACNA1S):c.2439C>T (p.Ser813=) rs376863448
NM_000069.3(CACNA1S):c.2440G>A (p.Ala814Thr) rs139956524
NM_000069.3(CACNA1S):c.2691G>T (p.Arg897Ser) rs80338779
NM_000069.3(CACNA1S):c.2745+14C>T rs74138824
NM_000069.3(CACNA1S):c.345C>T (p.Asp115=) rs144218745
NM_000069.3(CACNA1S):c.3628G>A (p.Gly1210Arg) rs148870919
NM_000069.3(CACNA1S):c.3715C>G (p.Arg1239Gly) rs28930069
NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His) rs28930068
NM_000069.3(CACNA1S):c.3795+3G>A rs191758096
NM_000069.3(CACNA1S):c.383C>G (p.Thr128Ser) rs139491817
NM_000069.3(CACNA1S):c.394C>A (p.Leu132Met) rs377030324
NM_000069.3(CACNA1S):c.3953+7G>A rs141071505
NM_000069.3(CACNA1S):c.398+3G>A rs764710968
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser) rs145910245
NM_000069.3(CACNA1S):c.4668+19T>C rs140742077
NM_000069.3(CACNA1S):c.4686T>C (p.Ile1562=) rs138423302
NM_000069.3(CACNA1S):c.5048+8C>T rs759622507
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp) rs772226819
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu) rs141204958
NM_000069.3(CACNA1S):c.5490_5497del (p.Leu1832fs) rs554596425
NM_000069.3(CACNA1S):c.773G>A (p.Gly258Asp) rs35534614
NM_000069.3(CACNA1S):c.895T>C (p.Tyr299His) rs35856559

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