ClinVar Miner

Variants with conflicting interpretations studied for Hyperkalemic Periodic Paralysis Type 1

Coded as:
Minimum review status of the submission for Hyperkalemic Periodic Paralysis Type 1: Y axis collection method of the submission for Hyperkalemic Periodic Paralysis Type 1:
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
105 59 6 47 18 0 6 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.

All conditions
Hyperkalemic Periodic Paralysis Type 1 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 6 3 0 0 0
likely pathogenic 1 0 1 0 0
uncertain significance 1 3 0 2 0
likely benign 0 0 9 0 8
benign 1 0 7 36 0

Condition to condition summary #

Total conditions: 15
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 35 0 30 3 0 0 33
Congenital Myasthenic Syndrome, Recessive 0 19 0 24 5 0 0 29
Hyperkalemic Periodic Paralysis 0 19 0 24 5 0 0 29
Hypokalemic periodic paralysis 0 19 0 24 5 0 0 29
Paramyotonia congenita of von Eulenburg 0 26 0 24 5 0 0 29
Potassium aggravated myotonia 0 23 0 24 5 0 0 29
not provided 0 39 0 3 11 0 4 17
Hypokalemic periodic paralysis 1 0 0 6 0 0 0 0 6
Potassium aggravated myotonia; Paramyotonia congenita of von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic Periodic Paralysis Type 1; Congenital myasthenic syndrome, acetazolamide-responsive 0 8 0 3 0 0 0 3
Congenital myasthenic syndrome, acetazolamide-responsive 0 1 0 0 1 0 1 2
Congenital myasthenic syndrome 0 0 0 0 0 0 1 1
Hyperkalemic Periodic Paralysis Type 1 218 14 0 1 0 0 0 1
Hypokalemic periodic paralysis 1; Potassium aggravated myotonia; Paramyotonia congenita of von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic Periodic Paralysis Type 1; Congenital myasthenic syndrome, acetazolamide-responsive 0 13 0 1 0 0 0 1
Hypokalemic periodic paralysis, type 2 0 6 0 0 0 0 1 1
Rhabdomyolysis 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 69
Download table as spreadsheet
HGVS dbSNP
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.1333G>C (p.Val445Leu) rs121908552
NM_000334.4(SCN4A):c.1430A>G (p.Lys477Arg) rs182691342
NM_000334.4(SCN4A):c.1453-4A>G rs111818485
NM_000334.4(SCN4A):c.1462G>A (p.Ala488Thr) rs185941768
NM_000334.4(SCN4A):c.154C>T (p.Arg52Trp) rs201379704
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.1947C>T (p.Ile649=) rs564134251
NM_000334.4(SCN4A):c.2006G>A (p.Arg669His) rs80338784
NM_000334.4(SCN4A):c.2014C>A (p.Arg672Ser) rs80338785
NM_000334.4(SCN4A):c.2014C>G (p.Arg672Gly) rs80338785
NM_000334.4(SCN4A):c.2014C>T (p.Arg672Cys) rs80338785
NM_000334.4(SCN4A):c.2015G>A (p.Arg672His) rs80338788
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.248T>C (p.Leu83Pro) rs147352060
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.2748C>G (p.Asn916Lys) rs115379510
NM_000334.4(SCN4A):c.2854-5C>T rs374039266
NM_000334.4(SCN4A):c.2890G>A (p.Val964Ile) rs200947169
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.3001C>T (p.Arg1001Cys) rs199713025
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.3386G>A (p.Arg1129Gln) rs527236149
NM_000334.4(SCN4A):c.3395G>A (p.Arg1132Gln) rs80338789
NM_000334.4(SCN4A):c.3441+7G>A rs142270113
NM_000334.4(SCN4A):c.3473C>T (p.Pro1158Leu) rs1555601448
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.3688G>A (p.Val1230Met) rs778820577
NM_000334.4(SCN4A):c.3720+10A>G rs111679484
NM_000334.4(SCN4A):c.3759C>T (p.Ala1253=) rs72851170
NM_000334.4(SCN4A):c.3774+7C>T rs199659791
NM_000334.4(SCN4A):c.3774+8G>A rs374806849
NM_000334.4(SCN4A):c.403A>C (p.Met135Leu) rs148028364
NM_000334.4(SCN4A):c.4078A>G (p.Met1360Val) rs80338959
NM_000334.4(SCN4A):c.4215C>T (p.Leu1405=) rs141215137
NM_000334.4(SCN4A):c.4288+10G>T rs114059193
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His) rs121908545
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) rs202106192
NM_000334.4(SCN4A):c.483-5C>A rs191547933
NM_000334.4(SCN4A):c.483-5C>G rs191547933
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.5113T>A (p.Phe1705Ile) rs1064794243
NM_000334.4(SCN4A):c.5190C>T (p.Cys1730=) rs113277954
NM_000334.4(SCN4A):c.5274C>T (p.His1758=) rs113418988
NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp) rs527236148
NM_000334.4(SCN4A):c.726C>T (p.Ala242=) rs73326368
NM_000334.4(SCN4A):c.737C>T (p.Ser246Leu) rs80338951
NM_000334.4(SCN4A):c.92G>T (p.Arg31Leu) rs112142736
NM_000334.4(SCN4A):c.963C>T (p.Asn321=) rs748863960
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) rs80338952
NM_000334.4(SCN4A):c.999C>T (p.Asn333=) rs149726115

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