ClinVar Miner

Variants with conflicting interpretations studied for Hypokalemic periodic paralysis

Coded as:
Minimum review status of the submission for Hypokalemic periodic paralysis: Y axis collection method of the submission for Hypokalemic periodic paralysis:
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
0 185 0 81 34 0 0 106

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
Hypokalemic periodic paralysis uncertain significance likely benign benign
uncertain significance 0 15 3
likely benign 17 0 76
benign 1 5 0

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
not specified 0 61 0 58 11 0 0 69
Hypokalemic periodic paralysis 1; Malignant hyperthermia susceptibility type 5 0 26 0 34 9 0 0 43
Hyperkalemic Periodic Paralysis Type 1 0 19 0 24 5 0 0 29
not provided 0 21 0 13 14 0 0 26
Potassium aggravated myotonia; Paramyotonia congenita of von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic Periodic Paralysis Type 1; Congenital myasthenic syndrome, acetazolamide-responsive 0 10 0 6 0 0 0 6
Malignant hyperthermia 0 1 0 1 1 0 0 2
Malignant hyperthermia susceptibility 0 153 0 0 2 0 0 2
Malignant hyperthermia susceptibility type 5 0 0 0 0 2 0 0 2
Hypokalemic periodic paralysis 1 0 0 0 0 1 0 0 1
Inborn genetic diseases 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 106
Download table as spreadsheet
HGVS dbSNP
NM_000069.2(CACNA1S):c.1301T>C (p.Phe434Ser) rs146136274
NM_000069.2(CACNA1S):c.1395C>T (p.Asp465=) rs189129662
NM_000069.2(CACNA1S):c.1452C>T (p.Tyr484=) rs144206959
NM_000069.2(CACNA1S):c.1493G>T (p.Arg498Leu) rs150590855
NM_000069.2(CACNA1S):c.1547C>T (p.Ser516Leu) rs140662085
NM_000069.2(CACNA1S):c.1548G>A (p.Ser516=) rs16847669
NM_000069.2(CACNA1S):c.1629G>T (p.Thr543=) rs143999390
NM_000069.2(CACNA1S):c.1670G>A (p.Arg557His) rs4915212
NM_000069.2(CACNA1S):c.1711G>A (p.Val571Ile) rs114191482
NM_000069.2(CACNA1S):c.1780C>T (p.Arg594Cys) rs200165212
NM_000069.2(CACNA1S):c.1817G>A (p.Ser606Asn) rs142356235
NM_000069.2(CACNA1S):c.1948+10C>G rs201173419
NM_000069.2(CACNA1S):c.1948+13G>C rs538625530
NM_000069.2(CACNA1S):c.1949-6G>A rs373698107
NM_000069.2(CACNA1S):c.1995C>T (p.Ala665=) rs16847664
NM_000069.2(CACNA1S):c.2047C>T (p.Arg683Cys) rs35708442
NM_000069.2(CACNA1S):c.2063+7G>T rs79984703
NM_000069.2(CACNA1S):c.206C>G (p.Ala69Gly) rs12406479
NM_000069.2(CACNA1S):c.2361-11C>T rs376279583
NM_000069.2(CACNA1S):c.2361-13C>T rs2182117
NM_000069.2(CACNA1S):c.2454G>A (p.Ala818=) rs141619541
NM_000069.2(CACNA1S):c.2480T>C (p.Met827Thr) rs61238538
NM_000069.2(CACNA1S):c.252C>T (p.Leu84=) rs112868209
NM_000069.2(CACNA1S):c.2601C>T (p.Tyr867=) rs34374418
NM_000069.2(CACNA1S):c.2745+14C>T rs74138824
NM_000069.2(CACNA1S):c.2746-14C>T rs113792034
NM_000069.2(CACNA1S):c.2754G>A (p.Val918=) rs150708636
NM_000069.2(CACNA1S):c.2784C>T (p.Ile928=) rs143483718
NM_000069.2(CACNA1S):c.2992G>A (p.Asp998Asn) rs116347156
NM_000069.2(CACNA1S):c.3053+13T>C rs41267501
NM_000069.2(CACNA1S):c.3189C>T (p.Phe1063=) rs150020550
NM_000069.2(CACNA1S):c.324C>T (p.Tyr108=) rs200487405
NM_000069.2(CACNA1S):c.3261A>G (p.Gln1087=) rs34515088
NM_000069.2(CACNA1S):c.345C>T (p.Asp115=) rs144218745
NM_000069.2(CACNA1S):c.3628G>A (p.Gly1210Arg) rs148870919
NM_000069.2(CACNA1S):c.369T>C (p.Asn123=) rs148680317
NM_000069.2(CACNA1S):c.3795+3G>A rs191758096
NM_000069.2(CACNA1S):c.3796-9G>A rs142184434
NM_000069.2(CACNA1S):c.3811G>A (p.Ala1271Thr) rs138144724
NM_000069.2(CACNA1S):c.383C>G (p.Thr128Ser) rs139491817
NM_000069.2(CACNA1S):c.394C>A (p.Leu132Met) rs377030324
NM_000069.2(CACNA1S):c.3953+6C>T rs115707724
NM_000069.2(CACNA1S):c.3953+7G>A rs141071505
NM_000069.2(CACNA1S):c.399-14C>T rs116534514
NM_000069.2(CACNA1S):c.4053A>G (p.Thr1351=) rs13376324
NM_000069.2(CACNA1S):c.4346T>G (p.Val1449Gly) rs79011683
NM_000069.2(CACNA1S):c.4686T>C (p.Ile1562=) rs138423302
NM_000069.2(CACNA1S):c.4747G>A (p.Glu1583Lys) rs148273582
NM_000069.2(CACNA1S):c.4752G>A (p.Leu1584=) rs763069723
NM_000069.2(CACNA1S):c.4882C>T (p.Leu1628Phe) rs200848930
NM_000069.2(CACNA1S):c.4954C>T (p.Arg1652Cys) rs143933255
NM_000069.2(CACNA1S):c.530C>T (p.Ser177Leu) rs141204958
NM_000069.2(CACNA1S):c.5515C>T (p.Pro1839Ser) rs149547196
NM_000069.2(CACNA1S):c.598G>A (p.Ala200Thr) rs527702358
NM_000069.2(CACNA1S):c.743C>T (p.Thr248Met) rs200665694
NM_000069.2(CACNA1S):c.773G>A (p.Gly258Asp) rs35534614
NM_000069.2(CACNA1S):c.858C>T (p.Tyr286=) rs61734621
NM_000069.2(CACNA1S):c.895T>C (p.Tyr299His) rs35856559
NM_000334.4(SCN4A):c.-33C>T rs575313119
NM_000334.4(SCN4A):c.1100+7G>A rs200770684
NM_000334.4(SCN4A):c.1167T>C (p.Tyr389=) rs16947296
NM_000334.4(SCN4A):c.1281C>T (p.Phe427=) rs369445518
NM_000334.4(SCN4A):c.1430A>G (p.Lys477Arg) rs182691342
NM_000334.4(SCN4A):c.1462G>A (p.Ala488Thr) rs185941768
NM_000334.4(SCN4A):c.1653C>T (p.Cys551=) rs201199086
NM_000334.4(SCN4A):c.1796A>G (p.His599Arg) rs187401185
NM_000334.4(SCN4A):c.2289C>T (p.Ile763=) rs76894284
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884
NM_000334.4(SCN4A):c.241G>C (p.Glu81Gln) rs111926172
NM_000334.4(SCN4A):c.2478C>T (p.Ile826=) rs371914255
NM_000334.4(SCN4A):c.2563A>G (p.Met855Val) rs372019457
NM_000334.4(SCN4A):c.2623C>T (p.Pro875Ser) rs201148948
NM_000334.4(SCN4A):c.2631T>C (p.Asp877=) rs79893125
NM_000334.4(SCN4A):c.2645C>A (p.Pro882Gln) rs111858905
NM_000334.4(SCN4A):c.2697G>A (p.Leu899=) rs199827271
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr) rs41280102
NM_000334.4(SCN4A):c.2722G>A (p.Glu908Lys) rs117664682
NM_000334.4(SCN4A):c.2854-5C>T rs374039266
NM_000334.4(SCN4A):c.2919C>T (p.Pro973=) rs73992419
NM_000334.4(SCN4A):c.2989+5G>A rs115695396
NM_000334.4(SCN4A):c.2995G>A (p.Val999Met) rs377277110
NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp) rs759982229
NM_000334.4(SCN4A):c.3360G>A (p.Ser1120=) rs377187913
NM_000334.4(SCN4A):c.3441+7G>A rs142270113
NM_000334.4(SCN4A):c.355G>A (p.Val119Ile) rs41280110
NM_000334.4(SCN4A):c.366C>T (p.Arg122=) rs41280108
NM_000334.4(SCN4A):c.3720+10A>G rs111679484
NM_000334.4(SCN4A):c.3759C>T (p.Ala1253=) rs72851170
NM_000334.4(SCN4A):c.4017+15G>T rs77844100
NM_000334.4(SCN4A):c.403A>C (p.Met135Leu) rs148028364
NM_000334.4(SCN4A):c.4125C>T (p.Asp1375=) rs375607705
NM_000334.4(SCN4A):c.4215C>T (p.Leu1405=) rs141215137
NM_000334.4(SCN4A):c.4288+10G>T rs114059193
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) rs202106192
NM_000334.4(SCN4A):c.483-5C>A rs191547933
NM_000334.4(SCN4A):c.483-9C>A rs201552497
NM_000334.4(SCN4A):c.4863C>T (p.Tyr1621=) rs769625349
NM_000334.4(SCN4A):c.4886C>T (p.Pro1629Leu) rs202102815
NM_000334.4(SCN4A):c.489C>G (p.Thr163=) rs146590697
NM_000334.4(SCN4A):c.4905C>T (p.Ile1635=) rs59081944
NM_000334.4(SCN4A):c.5274C>T (p.His1758=) rs113418988
NM_000334.4(SCN4A):c.5293G>A (p.Ala1765Thr) rs531694454
NM_000334.4(SCN4A):c.726C>T (p.Ala242=) rs73326368
NM_000334.4(SCN4A):c.92G>T (p.Arg31Leu) rs112142736
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg) rs199676994
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) rs80338952

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