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 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
248 132 4 49 22 1 1 74

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 drug response
pathogenic 4 1 1 0 0 0
likely pathogenic 1 0 0 0 0 0
uncertain significance 1 0 0 20 4 1
likely benign 0 0 20 0 48 0
benign 0 0 4 48 0 0
drug response 0 0 1 0 0 0

All variants with conflicting interpretations #

Total variants: 74
Download table as spreadsheet
NM_000069.2(CACNA1S):c.1301T>C (p.Phe434Ser) rs146136274
NM_000069.2(CACNA1S):c.1395C>T (p.Asp465=) rs189129662
NM_000069.2(CACNA1S):c.1452C>T (p.Tyr484=) rs144206959
NM_000069.2(CACNA1S):c.1493G>T (p.Arg498Leu) rs150590855
NM_000069.2(CACNA1S):c.1506C>T (p.Phe502=) rs141808465
NM_000069.2(CACNA1S):c.1547C>T (p.Ser516Leu) rs140662085
NM_000069.2(CACNA1S):c.1548G>A (p.Ser516=) rs16847669
NM_000069.2(CACNA1S):c.1583G>A (p.Arg528His) rs80338777
NM_000069.2(CACNA1S):c.1629G>T (p.Thr543=) rs143999390
NM_000069.2(CACNA1S):c.165G>A (p.Thr55=) rs150520884
NM_000069.2(CACNA1S):c.1670G>A (p.Arg557His) rs4915212
NM_000069.2(CACNA1S):c.1711G>A (p.Val571Ile) rs114191482
NM_000069.2(CACNA1S):c.1780C>T (p.Arg594Cys) rs200165212
NM_000069.2(CACNA1S):c.1817G>A (p.Ser606Asn) rs142356235
NM_000069.2(CACNA1S):c.1948+10C>G rs201173419
NM_000069.2(CACNA1S):c.1948+13G>C rs538625530
NM_000069.2(CACNA1S):c.1949-6G>A rs373698107
NM_000069.2(CACNA1S):c.1995C>T (p.Ala665=) rs16847664
NM_000069.2(CACNA1S):c.2047C>T (p.Arg683Cys) rs35708442
NM_000069.2(CACNA1S):c.2063+7G>T rs79984703
NM_000069.2(CACNA1S):c.206C>G (p.Ala69Gly) rs12406479
NM_000069.2(CACNA1S):c.2361-11C>T rs376279583
NM_000069.2(CACNA1S):c.2361-13C>T rs2182117
NM_000069.2(CACNA1S):c.2454G>A (p.Ala818=) rs141619541
NM_000069.2(CACNA1S):c.2480T>C (p.Met827Thr) rs61238538
NM_000069.2(CACNA1S):c.252C>T (p.Leu84=) rs112868209
NM_000069.2(CACNA1S):c.2601C>T (p.Tyr867=) rs34374418
NM_000069.2(CACNA1S):c.2691G>T (p.Arg897Ser) rs80338779
NM_000069.2(CACNA1S):c.2745+14C>T rs74138824
NM_000069.2(CACNA1S):c.2746-14C>T rs113792034
NM_000069.2(CACNA1S):c.2754G>A (p.Val918=) rs150708636
NM_000069.2(CACNA1S):c.2784C>T (p.Ile928=) rs143483718
NM_000069.2(CACNA1S):c.2992G>A (p.Asp998Asn) rs116347156
NM_000069.2(CACNA1S):c.3053+13T>C rs41267501
NM_000069.2(CACNA1S):c.3189C>T (p.Phe1063=) rs150020550
NM_000069.2(CACNA1S):c.324C>T (p.Tyr108=) rs200487405
NM_000069.2(CACNA1S):c.3261A>G (p.Gln1087=) rs34515088
NM_000069.2(CACNA1S):c.3287G>A (p.Arg1096His) rs142102094
NM_000069.2(CACNA1S):c.3414+3A>T rs892742196
NM_000069.2(CACNA1S):c.345C>T (p.Asp115=) rs144218745
NM_000069.2(CACNA1S):c.3628G>A (p.Gly1210Arg) rs148870919
NM_000069.2(CACNA1S):c.369T>C (p.Asn123=) rs148680317
NM_000069.2(CACNA1S):c.3715C>G (p.Arg1239Gly) rs28930069
NM_000069.2(CACNA1S):c.3716G>A (p.Arg1239His) rs28930068
NM_000069.2(CACNA1S):c.3795+3G>A rs191758096
NM_000069.2(CACNA1S):c.3796-9G>A rs142184434
NM_000069.2(CACNA1S):c.3811G>A (p.Ala1271Thr) rs138144724
NM_000069.2(CACNA1S):c.383C>G (p.Thr128Ser) rs139491817
NM_000069.2(CACNA1S):c.394C>A (p.Leu132Met) rs377030324
NM_000069.2(CACNA1S):c.3953+6C>T rs115707724
NM_000069.2(CACNA1S):c.3953+7G>A rs141071505
NM_000069.2(CACNA1S):c.399-14C>T rs116534514
NM_000069.2(CACNA1S):c.4053A>G (p.Thr1351=) rs13376324
NM_000069.2(CACNA1S):c.4060A>T (p.Thr1354Ser) rs145910245
NM_000069.2(CACNA1S):c.4114-8T>C rs373675720
NM_000069.2(CACNA1S):c.4346T>G (p.Val1449Gly) rs79011683
NM_000069.2(CACNA1S):c.4668+19T>C rs140742077
NM_000069.2(CACNA1S):c.4686T>C (p.Ile1562=) rs138423302
NM_000069.2(CACNA1S):c.4747G>A (p.Glu1583Lys) rs148273582
NM_000069.2(CACNA1S):c.4752G>A (p.Leu1584=) rs763069723
NM_000069.2(CACNA1S):c.4882C>T (p.Leu1628Phe) rs200848930
NM_000069.2(CACNA1S):c.4954C>T (p.Arg1652Cys) rs143933255
NM_000069.2(CACNA1S):c.502C>T (p.Arg168Ter) rs201998231
NM_000069.2(CACNA1S):c.530C>T (p.Ser177Leu) rs141204958
NM_000069.2(CACNA1S):c.5370+10G>A rs368138384
NM_000069.2(CACNA1S):c.5490_5497delAGAGCTAC (p.Leu1832Argfs) rs554596425
NM_000069.2(CACNA1S):c.5515C>T (p.Pro1839Ser) rs149547196
NM_000069.2(CACNA1S):c.598G>A (p.Ala200Thr) rs527702358
NM_000069.2(CACNA1S):c.743C>T (p.Thr248Met) rs200665694
NM_000069.2(CACNA1S):c.773G>A (p.Gly258Asp) rs35534614
NM_000069.2(CACNA1S):c.773G>T (p.Gly258Val) rs35534614
NM_000069.2(CACNA1S):c.858C>T (p.Tyr286=) rs61734621
NM_000069.2(CACNA1S):c.895T>C (p.Tyr299His) rs35856559
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp) rs772226819

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