ClinVar Miner

Variants with conflicting interpretations studied for Timothy syndrome

Coded as:
Minimum review status of the submission for Timothy syndrome: Y axis collection method of the submission for Timothy syndrome:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
5 161 2 38 30 0 3 64

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.

All conditions
Timothy syndrome pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 2 2 1 0 0
likely pathogenic 0 0 1 0 0
uncertain significance 0 0 0 16 2
likely benign 1 0 14 0 36

Condition to condition summary #

Total conditions: 10
Download table as spreadsheet
Condition 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
Long QT syndrome 0 20 1 31 13 0 2 47
not specified 0 16 0 25 10 0 0 34
Cardiovascular phenotype 0 23 0 18 6 0 0 24
not provided 0 19 2 10 12 0 1 23
History of neurodevelopmental disorder 0 19 0 17 3 0 0 20
Cardiac arrhythmia 0 1 0 3 0 0 0 3
Timothy syndrome 225 2 2 0 1 0 0 3
Brugada syndrome 0 210 0 0 1 0 0 1
Brugada syndrome 3 0 0 0 0 0 0 1 1
Cardiomyopathy, restrictive; Long QT syndrome 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 64
Download table as spreadsheet
HGVS dbSNP
NM_000719.6(CACNA1C):c.1002C>T (p.Pro334=) rs112002520
NM_000719.6(CACNA1C):c.109G>A (p.Gly37Arg) rs34534613
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.1468G>A (p.Gly490Arg) rs121912775
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.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.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.2573G>A (p.Arg858His) rs786205753
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.3642C>T (p.Tyr1214=) rs56394008
NM_000719.6(CACNA1C):c.372-15G>A rs55792866
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.3946-10C>T rs370630496
NM_000719.6(CACNA1C):c.3948C>T (p.Asn1316=) rs150092451
NM_000719.6(CACNA1C):c.4038C>T (p.Ile1346=) rs56180838
NM_000719.6(CACNA1C):c.4140+4G>A rs111442547
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.4624-9C>T rs377568567
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.4727-9G>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.5139C>T (p.Asp1713=) rs115216455
NM_000719.6(CACNA1C):c.5150C>G (p.Ala1717Gly) rs201492706
NM_000719.6(CACNA1C):c.5214C>A (p.Gly1738=) rs199538058
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.5492C>T (p.Thr1831Met) rs186015395
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.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.579C>T (p.Asn193=) rs561224137
NM_000719.6(CACNA1C):c.5918G>A (p.Arg1973Gln) rs112414325
NM_000719.6(CACNA1C):c.6272A>G (p.Asn2091Ser) rs201090446
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.911T>C (p.Ile304Thr) rs201756421
NM_000719.6(CACNA1C):c.966C>T (p.His322=) rs112539787
NM_001129835.1(CACNA1C):c.2570C>T (p.Pro857Leu) rs750835733
NM_001129838.1(CACNA1C):c.2579G>C (p.Arg860Pro) rs730880056

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