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 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
1193 90 2 34 44 0 1 69

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 1 0 0 0
likely pathogenic 1 0 1 0 0
uncertain significance 0 1 0 39 17
likely benign 0 0 39 0 33
benign 0 0 17 33 0

All variants with conflicting interpretations #

Total variants: 69
Download table as spreadsheet
HGVS dbSNP
NM_000719.7(CACNA1C):c.1074G>A (p.Gln358=) rs139842134
NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg) rs34534613
NM_000719.7(CACNA1C):c.1114-10G>A rs371725005
NM_000719.7(CACNA1C):c.1114-292C>T rs2238087
NM_000719.7(CACNA1C):c.1126G>A (p.Val376Ile) rs1131653
NM_000719.7(CACNA1C):c.1176G>T (p.Gly392=) rs1051360
NM_000719.7(CACNA1C):c.1204G>A (p.Gly402Ser) rs80315385
NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg) rs79891110
NM_000719.7(CACNA1C):c.1218-6C>T rs727503833
NM_000719.7(CACNA1C):c.1359C>T (p.Asp453=) rs200330469
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775
NM_000719.7(CACNA1C):c.1486C>T (p.Arg496Trp) rs760888275
NM_000719.7(CACNA1C):c.1552C>T (p.Arg518Cys) rs786205748
NM_000719.7(CACNA1C):c.1554C>T (p.Arg518=) rs398123517
NM_000719.7(CACNA1C):c.1783G>A (p.Val595Ile) rs201392574
NM_000719.7(CACNA1C):c.1794C>T (p.Gly598=) rs116491041
NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr) rs752000790
NM_000719.7(CACNA1C):c.2280G>A (p.Glu760=) rs141633456
NM_000719.7(CACNA1C):c.2391G>A (p.Gly797=) rs374857905
NM_000719.7(CACNA1C):c.2449C>T (p.Pro817Ser) rs112532048
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del) rs575583988
NM_000719.7(CACNA1C):c.2570C>T (p.Pro857Leu) rs750835733
NM_000719.7(CACNA1C):c.2766G>A (p.Pro922=) rs184684058
NM_000719.7(CACNA1C):c.3049-10C>T rs186741807
NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=) rs111606207
NM_000719.7(CACNA1C):c.3258C>T (p.Ile1086=) rs757290350
NM_000719.7(CACNA1C):c.3531C>T (p.Tyr1177=) rs754527651
NM_000719.7(CACNA1C):c.3567C>T (p.Cys1189=) rs202058956
NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=) rs56394008
NM_000719.7(CACNA1C):c.3747C>T (p.Ile1249=) rs370576211
NM_000719.7(CACNA1C):c.375A>G (p.Pro125=) rs587780882
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=) rs201258230
NM_000719.7(CACNA1C):c.3829-614A>G rs114851656
NM_000719.7(CACNA1C):c.3946-12G>A rs41276706
NM_000719.7(CACNA1C):c.3948C>T (p.Asn1316=) rs150092451
NM_000719.7(CACNA1C):c.3969C>T (p.Ile1323=) rs201345843
NM_000719.7(CACNA1C):c.4075-4C>A rs369044605
NM_000719.7(CACNA1C):c.4140+4G>A rs111442547
NM_000719.7(CACNA1C):c.426G>A (p.Ala142=) rs546786746
NM_000719.7(CACNA1C):c.4317C>T (p.Asn1439=) rs183192651
NM_000719.7(CACNA1C):c.4380C>T (p.Tyr1460=) rs747654175
NM_000719.7(CACNA1C):c.4611C>T (p.Arg1537=) rs372702466
NM_000719.7(CACNA1C):c.4624-8G>A rs529345041
NM_000719.7(CACNA1C):c.4659C>T (p.Asp1553=) rs563090568
NM_000719.7(CACNA1C):c.5091+17C>T rs375537358
NM_000719.7(CACNA1C):c.5091+8G>A rs768117202
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly) rs201492706
NM_000719.7(CACNA1C):c.5199G>A (p.Ala1733=) rs200638007
NM_000719.7(CACNA1C):c.5214C>A (p.Gly1738=) rs199538058
NM_000719.7(CACNA1C):c.5235C>T (p.His1745=) rs201861473
NM_000719.7(CACNA1C):c.5408G>C (p.Arg1803Pro) rs201918158
NM_000719.7(CACNA1C):c.5424G>A (p.Ala1808=) rs587780881
NM_000719.7(CACNA1C):c.5529T>C (p.His1843=) rs371831239
NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys) rs200231105
NM_000719.7(CACNA1C):c.5649G>A (p.Pro1883=) rs56270948
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586
NM_000719.7(CACNA1C):c.5747A>G (p.Gln1916Arg) rs186867242
NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln) rs112414325
NM_000719.7(CACNA1C):c.5931C>T (p.Val1977=) rs757236915
NM_000719.7(CACNA1C):c.6011G>T (p.Gly2004Val) rs374991642
NM_000719.7(CACNA1C):c.6090C>T (p.His2030=) rs750835120
NM_000719.7(CACNA1C):c.6344G>C (p.Gly2115Ala) rs199694744
NM_000719.7(CACNA1C):c.666C>T (p.Asn222=) rs527741368
NM_000719.7(CACNA1C):c.724C>T (p.Leu242=) rs200800133
NM_000719.7(CACNA1C):c.792C>A (p.Ala264=) rs750459136
NM_000719.7(CACNA1C):c.846C>T (p.Tyr282=) rs200847105
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr) rs201756421
NM_000719.7(CACNA1C):c.927A>G (p.Ala309=) rs369079645
NM_000719.7(CACNA1C):c.966C>T (p.His322=) rs112539787

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