ClinVar Miner

Variants with conflicting interpretations studied for Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42

Coded as:
Minimum review status of the submission for Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42: Y axis collection method of the submission for Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42:
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
107 59 0 45 25 0 2 61

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
Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 likely pathogenic uncertain significance likely benign benign
pathogenic 1 1 0 0
likely pathogenic 0 1 0 0
uncertain significance 0 0 8 1
likely benign 0 8 0 6
benign 0 9 38 0

Condition to condition summary #

Total conditions: 7
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
not specified 0 38 0 37 8 0 0 44
not provided 0 33 0 8 18 0 0 24
History of neurodevelopmental disorder 0 33 0 15 5 0 0 20
Inborn genetic diseases 0 0 0 1 0 0 1 2
Epileptic encephalopathy, early infantile, 42 0 0 0 1 0 0 0 1
Episodic ataxia type 2 0 2 0 0 0 0 1 1
Global developmental delay; Enlarged cisterna magna 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 61
Download table as spreadsheet
HGVS dbSNP
NM_001127221.1(CACNA1A):c.1360G>A (p.Ala454Thr) rs41276886
NM_001127221.1(CACNA1A):c.1398G>A (p.Ser466=) rs374307014
NM_001127221.1(CACNA1A):c.1503G>A (p.Thr501=) rs373192672
NM_001127221.1(CACNA1A):c.1575T>A (p.Ile525=) rs16010
NM_001127221.1(CACNA1A):c.1617C>T (p.Tyr539=) rs182505786
NM_001127221.1(CACNA1A):c.1626G>A (p.Gly542=) rs375628894
NM_001127221.1(CACNA1A):c.1629G>A (p.Thr543=) rs16011
NM_001127221.1(CACNA1A):c.1779C>G (p.Val593=) rs16012
NM_001127221.1(CACNA1A):c.1908C>T (p.Phe636=) rs115452236
NM_001127221.1(CACNA1A):c.2195A>C (p.Glu732Ala) rs16019
NM_001127221.1(CACNA1A):c.2623T>G (p.Ser875Ala) rs751675055
NM_001127221.1(CACNA1A):c.2679C>T (p.Ser893=) rs780515850
NM_001127221.1(CACNA1A):c.2681G>A (p.Arg894Gln) rs374664760
NM_001127221.1(CACNA1A):c.2690C>G (p.Pro897Arg) rs121908242
NM_001127221.1(CACNA1A):c.2740C>T (p.Pro914Ser) rs16020
NM_001127221.1(CACNA1A):c.2742C>T (p.Pro914=) rs16021
NM_001127221.1(CACNA1A):c.2826G>A (p.Glu942=) rs374511141
NM_001127221.1(CACNA1A):c.2847C>G (p.Arg949=) rs559862641
NM_001127221.1(CACNA1A):c.2983_2988delGAGGGC (p.Glu995_Gly996del) rs764399373
NM_001127221.1(CACNA1A):c.3031C>G (p.Pro1011Ala) rs28413664
NM_001127221.1(CACNA1A):c.3043G>A (p.Glu1015Lys) rs16024
NM_001127221.1(CACNA1A):c.3169C>T (p.Arg1057Cys) rs187393245
NM_001127221.1(CACNA1A):c.3230C>T (p.Ala1077Val) rs199512932
NM_001127221.1(CACNA1A):c.3240C>T (p.Ala1080=) rs16026
NM_001127221.1(CACNA1A):c.3307G>A (p.Asp1103Asn) rs372823282
NM_001127221.1(CACNA1A):c.3412C>G (p.Pro1138Ala) rs199793367
NM_001127221.1(CACNA1A):c.3534C>A (p.Pro1178=) rs184723350
NM_001127221.1(CACNA1A):c.3547G>A (p.Val1183Ile) rs369742607
NM_001127221.1(CACNA1A):c.3549C>T (p.Val1183=) rs16029
NM_001127221.1(CACNA1A):c.3621A>G (p.Glu1207=) rs201236364
NM_001127221.1(CACNA1A):c.3687G>A (p.Thr1229=) rs368048030
NM_001127221.1(CACNA1A):c.3825C>T (p.Asn1275=) rs201230929
NM_001127221.1(CACNA1A):c.4224C>T (p.Asp1408=) rs201200430
NM_001127221.1(CACNA1A):c.4314G>A (p.Lys1438=) rs572036869
NM_001127221.1(CACNA1A):c.4594-9C>G rs16032
NM_001127221.1(CACNA1A):c.462C>T (p.Ala154=) rs1800039
NM_001127221.1(CACNA1A):c.4635C>T (p.Thr1545=) rs150378053
NM_001127221.1(CACNA1A):c.4647G>A (p.Pro1549=) rs199854716
NM_001127221.1(CACNA1A):c.4991G>A (p.Arg1664Gln) rs121908247
NM_001127221.1(CACNA1A):c.5136+10G>A rs369033909
NM_001127221.1(CACNA1A):c.5263G>A (p.Gly1755Arg) rs1555737113
NM_001127221.1(CACNA1A):c.5653G>A (p.Val1885Ile) rs201836062
NM_001127221.1(CACNA1A):c.5655C>T (p.Val1885=) rs17846921
NM_001127221.1(CACNA1A):c.5742C>T (p.Ala1914=) rs16044
NM_001127221.1(CACNA1A):c.579G>A (p.Thr193=) rs41276894
NM_001127221.1(CACNA1A):c.5871C>T (p.Tyr1957=) rs371972266
NM_001127221.1(CACNA1A):c.5900G>A (p.Arg1967Gln) rs199886234
NM_001127221.1(CACNA1A):c.6268C>A (p.Arg2090=) rs200093958
NM_001127221.1(CACNA1A):c.6345C>G (p.Thr2115=) rs16049
NM_001127221.1(CACNA1A):c.6381C>T (p.Ser2127=) rs16050
NM_001127221.1(CACNA1A):c.6467G>T (p.Arg2156Leu) rs572722130
NM_001127221.1(CACNA1A):c.654G>C (p.Ser218=) rs201991581
NM_001127221.1(CACNA1A):c.6587G>A (p.Arg2196Gln) rs373192655
NM_001127221.1(CACNA1A):c.6653_6661delACCACCATC (p.His2218_His2220del) rs776181081
NM_001127221.1(CACNA1A):c.6657_6659delCCA (p.His2220del) rs759331923
NM_001127221.1(CACNA1A):c.6660T>C (p.His2220=) rs16051
NM_001127221.1(CACNA1A):c.6661_6662insACC (p.His2220_Pro2221insHis) rs768950814
NM_001127221.1(CACNA1A):c.784+10C>T rs781363787
NM_001127221.1(CACNA1A):c.978+9T>C rs111366222
NM_001127222.1(CACNA1A):c.1345+7C>T rs192536793
NM_001127222.1(CACNA1A):c.1914-4G>A rs191026552

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