ClinVar Miner

Variants with conflicting interpretations studied for enflurane response - Toxicity/ADR

Minimum review status of the submission for enflurane response - Toxicity/ADR: Y axis collection method of the submission for enflurane response - Toxicity/ADR:
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 12 0 0 0 34 0 34

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
enflurane response - Toxicity/ADR pathogenic likely pathogenic uncertain significance risk factor
drug response 29 11 4 15

Condition to condition summary #

Total conditions: 12
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 provided 0 12 0 0 0 28 0 28
Malignant hyperthermia, susceptibility to, 1 0 0 0 0 0 20 0 20
RYR1-Related Disorders 0 0 0 0 0 20 0 20
Myopathy, Central Core 0 0 0 0 0 12 0 12
Malignant hyperthermia susceptibility 0 0 0 0 0 4 0 4
Minicore myopathy 0 0 0 0 0 4 0 4
Myopathy, Central Core; Malignant hyperthermia, susceptibility to, 1; Minicore myopathy; Congenital myopathy with fiber type disproportion 0 0 0 0 0 2 0 2
Central core disease, autosomal recessive 0 0 0 0 0 1 0 1
Hypokalemic periodic paralysis 1; Malignant hyperthermia susceptibility 5 0 0 0 0 0 1 0 1
Inborn genetic diseases 0 0 0 0 0 1 0 1
Malignant hyperthermia 0 0 0 0 0 1 0 1
Neuromuscular disease, congenital, with uniform type 1 fiber 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 34
Download table as spreadsheet
HGVS dbSNP
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp) rs772226819
NM_000540.2(RYR1):c.1021G>A (p.Gly341Arg) rs121918592
NM_000540.2(RYR1):c.1209C>G (p.Ile403Met) rs118192116
NM_000540.2(RYR1):c.130C>T (p.Arg44Cys) rs193922748
NM_000540.2(RYR1):c.14387A>G (p.Tyr4796Cys) rs118192167
NM_000540.2(RYR1):c.14477C>T (p.Thr4826Ile) rs121918595
NM_000540.2(RYR1):c.14545G>A (p.Val4849Ile) rs118192168
NM_000540.2(RYR1):c.14582G>A (p.Arg4861His) rs63749869
NM_000540.2(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.2(RYR1):c.1565A>C (p.Tyr522Ser) rs118192162
NM_000540.2(RYR1):c.1589G>A (p.Arg530His) rs111888148
NM_000540.2(RYR1):c.1597C>A (p.Arg533Ser) rs193922768
NM_000540.2(RYR1):c.1598G>A (p.Arg533His) rs144336148
NM_000540.2(RYR1):c.1654C>T (p.Arg552Trp) rs193922770
NM_000540.2(RYR1):c.1840C>T (p.Arg614Cys) rs118192172
NM_000540.2(RYR1):c.487C>T (p.Arg163Cys) rs118192161
NM_000540.2(RYR1):c.6487C>T (p.Arg2163Cys) rs118192175
NM_000540.2(RYR1):c.6488G>A (p.Arg2163His) rs118192163
NM_000540.2(RYR1):c.6502G>A (p.Val2168Met) rs118192176
NM_000540.2(RYR1):c.7007G>A (p.Arg2336His) rs112563513
NM_000540.2(RYR1):c.7048G>A (p.Ala2350Thr) rs193922802
NM_000540.2(RYR1):c.7063C>T (p.Arg2355Trp) rs193922803
NM_000540.2(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593
NM_000540.2(RYR1):c.7304G>A (p.Arg2435His) rs28933396
NM_000540.2(RYR1):c.7354C>T (p.Arg2452Trp) rs118192124
NM_000540.2(RYR1):c.7360C>T (p.Arg2454Cys) rs193922816
NM_000540.2(RYR1):c.7361G>A (p.Arg2454His) rs118192122
NM_000540.2(RYR1):c.7372C>T (p.Arg2458Cys) rs28933397
NM_000540.2(RYR1):c.7373G>A (p.Arg2458His) rs121918594
NM_000540.2(RYR1):c.742G>A (p.Gly248Arg) rs1801086
NM_000540.2(RYR1):c.7522C>G (p.Arg2508Gly) rs118192178
NM_000540.2(RYR1):c.7523G>A (p.Arg2508His) rs193922818
NM_000540.2(RYR1):c.9310G>A (p.Glu3104Lys) rs193922832
NM_001042723.2(RYR1):c.7039_7041GAG[1] (p.Glu2348del) rs121918596

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