ClinVar Miner

Variants in gene CACNA1C 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
473 252 2 70 61 0 6 121

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 2 5 3 1 1
likely pathogenic 5 0 3 1 0
uncertain significance 3 3 0 56 21
likely benign 1 1 56 0 65
benign 1 0 21 65 0

All variants with conflicting interpretations #

Total variants: 121
Download table as spreadsheet
HGVS dbSNP
NM_000719.6(CACNA1C):c.1002C>T (p.Pro334=) rs112002520
NM_000719.6(CACNA1C):c.1065G>A (p.Thr355=) rs757055492
NM_000719.6(CACNA1C):c.1074G>A (p.Gln358=) rs139842134
NM_000719.6(CACNA1C):c.109G>A (p.Gly37Arg) rs34534613
NM_000719.6(CACNA1C):c.1114-10G>A rs371725005
NM_000719.6(CACNA1C):c.1114-292C>T rs2238087
NM_000719.6(CACNA1C):c.1176G>T (p.Gly392=) rs1051360
NM_000719.6(CACNA1C):c.1204G>A (p.Gly402Ser) rs80315385
NM_000719.6(CACNA1C):c.1216G>A (p.Gly406Arg) rs79891110
NM_000719.6(CACNA1C):c.1341C>T (p.Ile447=) rs377643814
NM_000719.6(CACNA1C):c.1359C>T (p.Asp453=) rs200330469
NM_000719.6(CACNA1C):c.1428C>T (p.Thr476=) rs750843602
NM_000719.6(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775
NM_000719.6(CACNA1C):c.1552C>T (p.Arg518Cys) rs786205748
NM_000719.6(CACNA1C):c.1553G>A (p.Arg518His) rs1057517711
NM_000719.6(CACNA1C):c.1554C>T (p.Arg518=) rs398123517
NM_000719.6(CACNA1C):c.1707A>G (p.Ala569=) rs375534041
NM_000719.6(CACNA1C):c.171C>T (p.Asp57=) rs34419050
NM_000719.6(CACNA1C):c.1734G>A (p.Leu578=) rs150692845
NM_000719.6(CACNA1C):c.1783G>A (p.Val595Ile) rs201392574
NM_000719.6(CACNA1C):c.1794C>T (p.Gly598=) rs116491041
NM_000719.6(CACNA1C):c.202G>A (p.Ala68Thr) rs752000790
NM_000719.6(CACNA1C):c.2067C>T (p.Phe689=) rs112170830
NM_000719.6(CACNA1C):c.213G>A (p.Ala71=) rs113869350
NM_000719.6(CACNA1C):c.2232A>C (p.Leu744=) rs370145265
NM_000719.6(CACNA1C):c.2280G>A (p.Glu760=) rs141633456
NM_000719.6(CACNA1C):c.2391G>A (p.Gly797=) rs374857905
NM_000719.6(CACNA1C):c.2437G>A (p.Gly813Arg) rs545511851
NM_000719.6(CACNA1C):c.2449C>T (p.Pro817Ser) rs112532048
NM_000719.6(CACNA1C):c.2637G>A (p.Ala879=) rs199629800
NM_000719.6(CACNA1C):c.2766G>A (p.Pro922=) rs184684058
NM_000719.6(CACNA1C):c.2854-4G>A rs113929946
NM_000719.6(CACNA1C):c.3049-10C>T rs186741807
NM_000719.6(CACNA1C):c.3114G>C (p.Leu1038=) rs114139824
NM_000719.6(CACNA1C):c.3201G>A (p.Ala1067=) rs758461435
NM_000719.6(CACNA1C):c.3234C>T (p.Asp1078=) rs111606207
NM_000719.6(CACNA1C):c.3387G>A (p.Thr1129=) rs188224114
NM_000719.6(CACNA1C):c.3531C>T (p.Tyr1177=) rs754527651
NM_000719.6(CACNA1C):c.3642C>T (p.Tyr1214=) rs56394008
NM_000719.6(CACNA1C):c.372-15G>A rs55792866
NM_000719.6(CACNA1C):c.3747C>T (p.Ile1249=) rs370576211
NM_000719.6(CACNA1C):c.375A>G (p.Pro125=) rs587780882
NM_000719.6(CACNA1C):c.3780C>A (p.Gly1260=) rs201258230
NM_000719.6(CACNA1C):c.3933C>T (p.Cys1311=) rs199569953
NM_000719.6(CACNA1C):c.3943A>G (p.Met1315Val) rs756734279
NM_000719.6(CACNA1C):c.3946-10C>T rs370630496
NM_000719.6(CACNA1C):c.3946-12G>A rs41276706
NM_000719.6(CACNA1C):c.3948C>T (p.Asn1316=) rs150092451
NM_000719.6(CACNA1C):c.3969C>T (p.Ile1323=) rs201345843
NM_000719.6(CACNA1C):c.4038C>T (p.Ile1346=) rs56180838
NM_000719.6(CACNA1C):c.4075-4C>A rs369044605
NM_000719.6(CACNA1C):c.4140+4G>A rs111442547
NM_000719.6(CACNA1C):c.426G>A (p.Ala142=) rs546786746
NM_000719.6(CACNA1C):c.4305C>T (p.Ser1435=) rs756717724
NM_000719.6(CACNA1C):c.4317C>T (p.Asn1439=) rs183192651
NM_000719.6(CACNA1C):c.4323G>A (p.Thr1441=) rs753892795
NM_000719.6(CACNA1C):c.4418C>G (p.Ala1473Gly) rs794727587
NM_000719.6(CACNA1C):c.4611C>T (p.Arg1537=) rs372702466
NM_000719.6(CACNA1C):c.4624-8G>A rs529345041
NM_000719.6(CACNA1C):c.4624-9C>T rs377568567
NM_000719.6(CACNA1C):c.4641C>T (p.Asn1547=) rs202194703
NM_000719.6(CACNA1C):c.4659C>T (p.Asp1553=) rs563090568
NM_000719.6(CACNA1C):c.4726+13G>A rs561365937
NM_000719.6(CACNA1C):c.4726+9G>A rs369267978
NM_000719.6(CACNA1C):c.4727-10C>T rs749903718
NM_000719.6(CACNA1C):c.4727-9G>A rs757966245
NM_000719.6(CACNA1C):c.4761G>A (p.Ala1587=) rs756364065
NM_000719.6(CACNA1C):c.5064C>T (p.Ser1688=) rs139872789
NM_000719.6(CACNA1C):c.5097C>T (p.Ala1699=) rs113595214
NM_000719.6(CACNA1C):c.50G>A (p.Gly17Asp) rs747083495
NM_000719.6(CACNA1C):c.5119G>A (p.Val1707Ile) rs147896322
NM_000719.6(CACNA1C):c.5139C>T (p.Asp1713=) rs115216455
NM_000719.6(CACNA1C):c.5149G>A (p.Ala1717Thr) rs200865354
NM_000719.6(CACNA1C):c.5150C>G (p.Ala1717Gly) rs201492706
NM_000719.6(CACNA1C):c.5157C>G (p.Pro1719=) rs534589273
NM_000719.6(CACNA1C):c.5199G>A (p.Ala1733=) rs200638007
NM_000719.6(CACNA1C):c.5214C>A (p.Gly1738=) rs199538058
NM_000719.6(CACNA1C):c.5214C>T (p.Gly1738=) rs199538058
NM_000719.6(CACNA1C):c.5235C>T (p.His1745=) rs201861473
NM_000719.6(CACNA1C):c.5292C>T (p.Asn1764=) rs72552065
NM_000719.6(CACNA1C):c.5360C>T (p.Thr1787Met) rs192749597
NM_000719.6(CACNA1C):c.537C>T (p.Ile179=) rs369673473
NM_000719.6(CACNA1C):c.5383G>A (p.Gly1795Arg) rs111298509
NM_000719.6(CACNA1C):c.5391C>G (p.Pro1797=) rs376124689
NM_000719.6(CACNA1C):c.5424G>A (p.Ala1808=) rs587780881
NM_000719.6(CACNA1C):c.5478G>A (p.Ala1826=) rs200283756
NM_000719.6(CACNA1C):c.5492C>T (p.Thr1831Met) rs186015395
NM_000719.6(CACNA1C):c.5529T>C (p.His1843=) rs371831239
NM_000719.6(CACNA1C):c.5593G>A (p.Glu1865Lys) rs200231105
NM_000719.6(CACNA1C):c.5604A>G (p.Gln1868=) rs11062316
NM_000719.6(CACNA1C):c.5639G>A (p.Arg1880Gln) rs182208896
NM_000719.6(CACNA1C):c.5644T>C (p.Ser1882Pro) rs369438564
NM_000719.6(CACNA1C):c.5649G>A (p.Pro1883=) rs56270948
NM_000719.6(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586
NM_000719.6(CACNA1C):c.5680+11C>T rs66611965
NM_000719.6(CACNA1C):c.5680+15C>T rs114036394
NM_000719.6(CACNA1C):c.5706A>G (p.Glu1902=) rs537002656
NM_000719.6(CACNA1C):c.579C>T (p.Asn193=) rs561224137
NM_000719.6(CACNA1C):c.5918G>A (p.Arg1973Gln) rs112414325
NM_000719.6(CACNA1C):c.6006C>T (p.Gly2002=) rs373253192
NM_000719.6(CACNA1C):c.6031G>A (p.Val2011Ile) rs193922615
NM_000719.6(CACNA1C):c.6040G>A (p.Val2014Ile) rs199473660
NM_000719.6(CACNA1C):c.6090C>T (p.His2030=) rs750835120
NM_000719.6(CACNA1C):c.618G>A (p.Gly206=) rs200602896
NM_000719.6(CACNA1C):c.6272A>G (p.Asn2091Ser) rs201090446
NM_000719.6(CACNA1C):c.6307G>T (p.Ala2103Ser) rs193922616
NM_000719.6(CACNA1C):c.6339C>T (p.Asp2113=) rs374843203
NM_000719.6(CACNA1C):c.6342G>A (p.Ala2114=) rs368073321
NM_000719.6(CACNA1C):c.6344G>C (p.Gly2115Ala) rs199694744
NM_000719.6(CACNA1C):c.6388G>A (p.Asp2130Asn) rs199473392
NM_000719.6(CACNA1C):c.666C>T (p.Asn222=) rs527741368
NM_000719.6(CACNA1C):c.724C>T (p.Leu242=) rs200800133
NM_000719.6(CACNA1C):c.911T>C (p.Ile304Thr) rs201756421
NM_000719.6(CACNA1C):c.927A>G (p.Ala309=) rs369079645
NM_000719.6(CACNA1C):c.966C>T (p.His322=) rs112539787
NM_000719.6(CACNA1C):c.984C>T (p.Asn328=) rs374050127
NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His) rs786205753
NM_001129835.1(CACNA1C):c.2570C>T (p.Pro857Leu) rs750835733
NM_001129838.1(CACNA1C):c.2579G>C (p.Arg860Pro) rs730880056
NM_001129841.1(CACNA1C):c.2548_2550delGAG (p.Glu850del) rs575583988
NM_001167623.1(CACNA1C):c.1204G>A (p.Gly402Ser) rs587782933

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