ClinVar Miner

Variants in gene CACNA1A with conflicting interpretations

See also:
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
1415 101 0 74 49 0 6 118

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 0 10 2 0 0
likely pathogenic 10 0 4 0 0
uncertain significance 2 4 0 46 14
likely benign 0 0 46 0 64
benign 0 0 14 64 0

All variants with conflicting interpretations #

Total variants: 118
Download table as spreadsheet
HGVS dbSNP
NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=) rs2248069
NM_001127222.2(CACNA1A):c.1345+7C>T rs192536793
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr) rs41276886
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln) rs561858384
NM_001127222.2(CACNA1A):c.1368C>T (p.Ser456=) rs377458008
NM_001127222.2(CACNA1A):c.1395G>A (p.Ser465=) rs374307014
NM_001127222.2(CACNA1A):c.1499C>T (p.Thr500Met) rs121908240
NM_001127222.2(CACNA1A):c.1500_1521del (p.Leu501fs) rs1555762855
NM_001127222.2(CACNA1A):c.1572T>A (p.Ile524=) rs16010
NM_001127222.2(CACNA1A):c.1614C>T (p.Tyr538=) rs182505786
NM_001127222.2(CACNA1A):c.1623G>A (p.Gly541=) rs375628894
NM_001127222.2(CACNA1A):c.1626G>A (p.Thr542=) rs16011
NM_001127222.2(CACNA1A):c.1668+7G>A rs567507041
NM_001127222.2(CACNA1A):c.1776C>G (p.Val592=) rs16012
NM_001127222.2(CACNA1A):c.1782-6C>T rs201350764
NM_001127222.2(CACNA1A):c.1782G>A (p.Lys594=) rs756972061
NM_001127222.2(CACNA1A):c.1914-4G>A rs191026552
NM_001127222.2(CACNA1A):c.1983T>C (p.Phe661=) rs368033271
NM_001127222.2(CACNA1A):c.1995G>A (p.Thr665=) rs376641545
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs) rs1064794262
NM_001127222.2(CACNA1A):c.2091G>A (p.Thr697=) rs16016
NM_001127222.2(CACNA1A):c.2192A>C (p.Glu731Ala) rs16019
NM_001127222.2(CACNA1A):c.2620T>G (p.Ser874Ala) rs751675055
NM_001127222.2(CACNA1A):c.2676C>T (p.Ser892=) rs780515850
NM_001127222.2(CACNA1A):c.2678G>A (p.Arg893Gln) rs374664760
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg) rs121908242
NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser) rs16020
NM_001127222.2(CACNA1A):c.2737_2739delinsTCT (p.Pro913Ser) rs886043758
NM_001127222.2(CACNA1A):c.2739C>T (p.Pro913=) rs16021
NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp) rs16022
NM_001127222.2(CACNA1A):c.2867G>T (p.Arg956Leu) rs551380805
NM_001127222.2(CACNA1A):c.2955G>C (p.Pro985=) rs749357610
NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4]) rs764399373
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val) rs16023
NM_001127222.2(CACNA1A):c.3028C>G (p.Pro1010Ala) rs28413664
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) rs16024
NM_001127222.2(CACNA1A):c.3043G>A (p.Gly1015Arg) rs190551509
NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=) rs16025
NM_001127222.2(CACNA1A):c.3237C>T (p.Ala1079=) rs16026
NM_001127222.2(CACNA1A):c.3309C>T (p.Pro1103=) rs374749004
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser) rs16027
NM_001127222.2(CACNA1A):c.3355G>A (p.Ala1119Thr) rs199745070
NM_001127222.2(CACNA1A):c.3384G>A (p.Pro1128=) rs370541345
NM_001127222.2(CACNA1A):c.3409C>G (p.Pro1137Ala) rs199793367
NM_001127222.2(CACNA1A):c.3410C>G (p.Pro1137Arg) rs200333359
NM_001127222.2(CACNA1A):c.3421G>A (p.Glu1141Lys) rs780535727
NM_001127222.2(CACNA1A):c.3525A>C (p.Pro1175=) rs886044439
NM_001127222.2(CACNA1A):c.3531C>A (p.Pro1177=) rs184723350
NM_001127222.2(CACNA1A):c.3531C>G (p.Pro1177=) rs184723350
NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=) rs16029
NM_001127222.2(CACNA1A):c.3618A>G (p.Glu1206=) rs201236364
NM_001127222.2(CACNA1A):c.3683C>T (p.Thr1228Met) rs1057518532
NM_001127222.2(CACNA1A):c.3692+1G>A rs1315533129
NM_001127222.2(CACNA1A):c.3822C>T (p.Asn1274=) rs201230929
NM_001127222.2(CACNA1A):c.3861T>C (p.Phe1287=) rs16030
NM_001127222.2(CACNA1A):c.4072C>T (p.Arg1358Trp) rs1555745461
NM_001127222.2(CACNA1A):c.4089+5_4089+6del rs368911651
NM_001127222.2(CACNA1A):c.4221C>T (p.Asp1407=) rs201200430
NM_001127222.2(CACNA1A):c.4311G>A (p.Lys1437=) rs572036869
NM_001127222.2(CACNA1A):c.4591-9C>G rs16032
NM_001127222.2(CACNA1A):c.462C>T (p.Ala154=) rs1800039
NM_001127222.2(CACNA1A):c.4632C>T (p.Thr1544=) rs150378053
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter) rs121909324
NM_001127222.2(CACNA1A):c.4644G>A (p.Pro1548=) rs199854716
NM_001127222.2(CACNA1A):c.4806C>T (p.Ile1602=) rs372240227
NM_001127222.2(CACNA1A):c.4897G>A (p.Asp1633Asn) rs1555740805
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) rs121908247
NM_001127222.2(CACNA1A):c.4997G>A (p.Arg1666Gln) rs1568447650
NM_001127222.2(CACNA1A):c.5133+10G>A rs369033909
NM_001127222.2(CACNA1A):c.5259C>T (p.Thr1753=) rs376684786
NM_001127222.2(CACNA1A):c.5268T>C (p.Ala1756=) rs373678557
NM_001127222.2(CACNA1A):c.526G>A (p.Val176Met) rs1057521920
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu) rs1064794261
NM_001127222.2(CACNA1A):c.5451C>T (p.Thr1817=) rs188863534
NM_001127222.2(CACNA1A):c.5508C>T (p.Ala1836=) rs750338421
NM_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile) rs201836062
NM_001127222.2(CACNA1A):c.5652C>T (p.Val1884=) rs17846921
NM_001127222.2(CACNA1A):c.5685C>T (p.Thr1895=) rs757291476
NM_001127222.2(CACNA1A):c.5739C>T (p.Ala1913=) rs16044
NM_001127222.2(CACNA1A):c.579G>A (p.Thr193=) rs41276894
NM_001127222.2(CACNA1A):c.5868C>T (p.Tyr1956=) rs371972266
NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln) rs199886234
NM_001127222.2(CACNA1A):c.6015C>T (p.Ala2005=) rs369675855
NM_001127222.2(CACNA1A):c.6061G>A (p.Glu2021Lys) rs202002033
NM_001127222.2(CACNA1A):c.6067G>A (p.Gly2023Ser) rs574805525
NM_001127222.2(CACNA1A):c.6265C>A (p.Arg2089=) rs200093958
NM_001127222.2(CACNA1A):c.6339+10G>C rs376238265
NM_001127222.2(CACNA1A):c.633T>C (p.Ser211=) rs202216404
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=) rs16049
NM_001127222.2(CACNA1A):c.6372A>G (p.Ser2124=) rs760994682
NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=) rs16050
NM_001127222.2(CACNA1A):c.6464G>A (p.Arg2155His) rs572722130
NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu) rs572722130
NM_001127222.2(CACNA1A):c.6466C>T (p.Arg2156Cys) rs554393704
NM_001127222.2(CACNA1A):c.6468C>T (p.Arg2156=) rs745336852
NM_001127222.2(CACNA1A):c.6483C>T (p.Arg2161=) rs745609731
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys) rs375354077
NM_001127222.2(CACNA1A):c.654G>C (p.Ser218=) rs201991581
NM_001127222.2(CACNA1A):c.6630CCA[10] (p.His2219dup) rs759331923
NM_001127222.2(CACNA1A):c.6630CCA[6] (p.His2217_His2219del) rs759331923
NM_001127222.2(CACNA1A):c.6630CCA[8] (p.His2219del) rs759331923
NM_001127222.2(CACNA1A):c.6647_6658del (p.His2216_His2219del) rs770368215
NM_001127222.2(CACNA1A):c.6650_6658del (p.His2217_His2219del) rs776181081
NM_001127222.2(CACNA1A):c.6653_6658del (p.His2218_His2219del) rs774721955
NM_001127222.2(CACNA1A):c.6656_6658del (p.His2219del) rs749638821
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=) rs16051
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup) rs768950814
NM_001127222.2(CACNA1A):c.6669C>T (p.Pro2223=) rs2304094
NM_001127222.2(CACNA1A):c.680T>G (p.Leu227Arg) rs1057522420
NM_001127222.2(CACNA1A):c.699A>G (p.Leu233=) rs749587119
NM_001127222.2(CACNA1A):c.7189G>A (p.Val2397Met) rs768129470
NM_001127222.2(CACNA1A):c.784+10C>T rs781363787
NM_001127222.2(CACNA1A):c.876A>G (p.Glu292=) rs16006
NM_001127222.2(CACNA1A):c.888C>T (p.Asn296=) rs372812865
NM_001127222.2(CACNA1A):c.924G>A (p.Val308=) rs754935637
NM_001127222.2(CACNA1A):c.978+9T>C rs111366222
NM_023035.3(CACNA1A):c.4186G>A (p.Val1396Met) rs794727411

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.