ClinVar Miner

Variants with conflicting interpretations studied for Hypokalemic periodic paralysis 1; Malignant hyperthermia susceptibility type 5

Coded as:
Minimum review status of the submission for Hypokalemic periodic paralysis 1; Malignant hyperthermia susceptibility type 5: Y axis collection method of the submission for Hypokalemic periodic paralysis 1; Malignant hyperthermia susceptibility type 5:
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
119 47 3 42 15 1 0 59

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 1; Malignant hyperthermia susceptibility type 5 pathogenic likely pathogenic uncertain significance likely benign benign drug response
pathogenic 3 1 0 0 0 0
uncertain significance 0 0 0 9 0 1
likely benign 0 0 4 0 1 0
benign 0 0 2 40 0 0

Condition to condition summary #

Total conditions: 13
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
Hypokalemic periodic paralysis 0 26 0 34 9 0 0 43
Malignant hyperthermia susceptibility 0 25 0 34 10 0 0 43
not specified 0 39 0 24 4 0 0 28
not provided 0 30 0 3 3 0 0 6
Hypokalemic periodic paralysis 1 0 1 3 0 0 0 0 3
Malignant hyperthermia, susceptibility to, 1 0 0 0 0 1 0 0 1
desflurane response - Toxicity/ADR 0 0 0 0 0 1 0 1
enflurane response - Toxicity/ADR 0 0 0 0 0 1 0 1
halothane response - Toxicity/ADR 0 0 0 0 0 1 0 1
isoflurane response - Toxicity/ADR 0 0 0 0 0 1 0 1
methoxyflurane response - Toxicity/ADR 0 0 0 0 0 1 0 1
sevoflurane response - Toxicity/ADR 0 0 0 0 0 1 0 1
succinylcholine response - Toxicity/ADR 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 59
Download table as spreadsheet
HGVS dbSNP
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.1506C>T (p.Phe502=) rs141808465
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.1583G>A (p.Arg528His) rs80338777
NM_000069.2(CACNA1S):c.165G>A (p.Thr55=) rs150520884
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.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.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.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.3261A>G (p.Gln1087=) rs34515088
NM_000069.2(CACNA1S):c.3287G>A (p.Arg1096His) rs142102094
NM_000069.2(CACNA1S):c.3414+3A>T rs892742196
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.3715C>G (p.Arg1239Gly) rs28930069
NM_000069.2(CACNA1S):c.3716G>A (p.Arg1239His) rs28930068
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.4053A>G (p.Thr1351=) rs13376324
NM_000069.2(CACNA1S):c.4060A>T (p.Thr1354Ser) rs145910245
NM_000069.2(CACNA1S):c.4114-8T>C rs373675720
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.502C>T (p.Arg168Ter) rs201998231
NM_000069.2(CACNA1S):c.530C>T (p.Ser177Leu) rs141204958
NM_000069.2(CACNA1S):c.5370+10G>A rs368138384
NM_000069.2(CACNA1S):c.5490_5497delAGAGCTAC (p.Leu1832Argfs) rs554596425
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.773G>T (p.Gly258Val) rs35534614
NM_000069.2(CACNA1S):c.858C>T (p.Tyr286=) rs61734621
NM_000069.2(CACNA1S):c.895T>C (p.Tyr299His) rs35856559
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp) rs772226819

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