ClinVar Miner

Variants with conflicting interpretations studied for Congenital Myasthenic Syndrome, Recessive

Coded as:
Minimum review status of the submission for Congenital Myasthenic Syndrome, Recessive: Y axis collection method of the submission for Congenital Myasthenic Syndrome, Recessive:
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
160 122 0 61 37 0 0 90

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
Congenital Myasthenic Syndrome, Recessive uncertain significance likely benign benign
uncertain significance 0 18 15
likely benign 11 0 53
benign 0 8 0

Condition to condition summary #

Total conditions: 9
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 30 0 49 17 0 0 66
Hyperkalemic Periodic Paralysis Type 1 0 19 0 24 5 0 0 29
not provided 0 11 0 9 12 0 0 20
Pena-Shokeir syndrome type I; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 0 2 0 2 11 0 0 13
Endplate acetylcholinesterase deficiency 0 2 0 5 3 0 0 8
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
Pena-Shokeir syndrome type I; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency 0 2 0 2 2 0 0 4
Congenital myasthenic syndrome 12 0 1 0 2 1 0 0 3
Inborn genetic diseases 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 90
Download table as spreadsheet
HGVS dbSNP
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
NM_001244710.1(GFPT1):c.1324+13delT rs113734896
NM_001244710.1(GFPT1):c.408+7A>T rs112682152
NM_002056.3(GFPT1):c.147T>C (p.Asp49=) rs2230300
NM_002056.3(GFPT1):c.223+5C>T rs200631666
NM_002056.3(GFPT1):c.675C>T (p.Leu225=) rs78952091
NM_005055.4(RAPSN):c.1041G>A (p.Ala347=) rs149683345
NM_005055.4(RAPSN):c.1143T>C (p.Pro381=) rs7126210
NM_005055.4(RAPSN):c.172C>T (p.Arg58Cys) rs34312154
NM_005055.4(RAPSN):c.193-15C>T rs45547231
NM_005055.4(RAPSN):c.241T>C (p.Phe81Leu) rs57878668
NM_005055.4(RAPSN):c.456T>C (p.Tyr152=) rs7111873
NM_005055.4(RAPSN):c.474C>T (p.Asp158=) rs56245238
NM_005055.4(RAPSN):c.492C>T (p.Arg164=) rs146237774
NM_005055.4(RAPSN):c.614G>A (p.Arg205Gln) rs34625105
NM_005055.4(RAPSN):c.855G>A (p.Gln285=) rs45603036
NM_005592.3(MUSK):c.1062G>A (p.Thr354=) rs139945437
NM_005592.3(MUSK):c.1189T>C (p.Tyr397His) rs79843573
NM_005592.3(MUSK):c.1239G>A (p.Met413Ile) rs2274419
NM_005592.3(MUSK):c.1931T>C (p.Val644Ala) rs41279055
NM_005592.3(MUSK):c.1941C>T (p.Val647=) rs200312379
NM_005592.3(MUSK):c.2202C>T (p.Gly734=) rs143701488
NM_005592.3(MUSK):c.225C>T (p.Tyr75=) rs56130155
NM_005592.3(MUSK):c.2286C>T (p.Asp762=) rs199832657
NM_005592.3(MUSK):c.2485G>T (p.Val829Leu) rs578430
NM_005592.3(MUSK):c.2573G>A (p.Arg858His) rs34115159
NM_005592.3(MUSK):c.299C>T (p.Thr100Met) rs35142681
NM_005592.3(MUSK):c.312T>C (p.Gly104=) rs56181115
NM_005592.3(MUSK):c.320G>A (p.Gly107Glu) rs55786136
NM_005592.3(MUSK):c.398T>C (p.Ile133Thr) rs55980069
NM_005592.3(MUSK):c.486+7G>C rs187497836
NM_005592.3(MUSK):c.537C>T (p.Asn179=) rs41279051
NM_005592.3(MUSK):c.666T>C (p.Asn222=) rs56044404
NM_005592.3(MUSK):c.80-8C>T rs199705752
NM_005677.3(COLQ):c.1081C>T (p.Pro361Ser) rs116828761
NM_005677.3(COLQ):c.1248C>T (p.Asp416=) rs55866379
NM_005677.3(COLQ):c.1338C>A (p.Ile446=) rs73818504
NM_005677.3(COLQ):c.291G>A (p.Ser97=) rs115201284
NM_005677.3(COLQ):c.366+7A>G rs750387
NM_005677.3(COLQ):c.556-15A>G rs57376327
NM_005677.3(COLQ):c.561C>T (p.Ser187=) rs149370622
NM_005677.3(COLQ):c.912C>T (p.Tyr304=) rs886058099
NM_005677.3(COLQ):c.934A>G (p.Ser312Gly) rs6782980

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