ClinVar Miner

Variants with conflicting interpretations studied for RYR1-Related Disorders

Coded as:
Minimum review status of the submission for RYR1-Related Disorders: Y axis collection method of the submission for RYR1-Related Disorders:
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
449 173 7 41 33 21 33 114

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
RYR1-Related Disorders pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor
pathogenic 7 27 8 2 1 18 9
likely pathogenic 8 0 5 0 0 1 0
uncertain significance 4 15 0 25 6 1 0
likely benign 0 0 7 0 0 0 0
benign 0 0 1 7 0 0 0

Condition to condition summary #

Total conditions: 30
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 0 178 0 24 11 0 22 56
Myopathy, Central Core 0 32 6 10 14 0 5 33
Malignant hyperthermia susceptibility 0 29 0 10 15 0 0 25
Malignant hyperthermia, susceptibility to, 1 0 33 0 3 8 9 5 23
Multiminicore Disease 0 26 0 6 14 0 1 21
Neuromuscular disease, congenital, with uniform type 1 fiber 0 27 0 6 14 0 0 20
desflurane response - Toxicity/ADR 0 0 0 0 0 20 0 20
enflurane response - Toxicity/ADR 0 0 0 0 0 20 0 20
halothane response - Toxicity/ADR 0 0 0 0 0 20 0 20
isoflurane response - Toxicity/ADR 0 0 0 0 0 20 0 20
methoxyflurane response - Toxicity/ADR 0 0 0 0 0 20 0 20
sevoflurane response - Toxicity/ADR 0 0 0 0 0 20 0 20
succinylcholine response - Toxicity/ADR 0 0 0 0 0 20 0 20
not specified 0 32 0 1 6 0 2 9
Inborn genetic diseases 0 10 0 3 0 0 1 4
Central core disease, autosomal recessive 0 0 0 1 0 0 0 1
Congenital myopathy 0 2 0 0 0 0 1 1
Congenital myopathy with fiber type disproportion 0 2 1 0 0 0 0 1
Fetal akinesia sequence; Arthrogryposis multiplex congenita 0 0 0 0 0 0 1 1
Malignant hyperthermia 0 2 0 0 0 0 1 1
Minicore myopathy 0 7 0 1 0 0 0 1
Multi-minicore disease and atypical periodic paralysis 0 0 0 0 0 0 1 1
Multiminicore/minicore/multicore disease 0 0 0 0 1 0 0 1
Muscular Diseases 0 1 0 0 0 0 1 1
Myopathy, Central Core; Malignant hyperthermia, susceptibility to, 1; Minicore myopathy; Congenital myopathy with fiber type disproportion 0 21 0 1 0 0 0 1
Myopathy, RYR1-associated 0 2 0 0 0 0 1 1
Neuromuscular Diseases 0 0 0 0 0 0 1 1
Ptosis; Sacral agenesis; History of neonatal hypotonia 0 0 0 1 0 0 0 1
RYR1-Related Disorders 735 0 0 1 0 0 0 1
volatile anesthetics response - Toxicity/ADR 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 114
Download table as spreadsheet
HGVS dbSNP
NM_000540.2(RYR1):c.10097G>A (p.Arg3366His) rs137932199
NM_000540.2(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058
NM_000540.2(RYR1):c.1021G>A (p.Gly341Arg) rs121918592
NM_000540.2(RYR1):c.10259+10G>A rs187018043
NM_000540.2(RYR1):c.10347+1G>A rs111436401
NM_000540.2(RYR1):c.10348-6C>G rs193922837
NM_000540.2(RYR1):c.10648C>T (p.Arg3550Trp) rs536304635
NM_000540.2(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273
NM_000540.2(RYR1):c.11518G>A (p.Val3840Ile) rs140616359
NM_000540.2(RYR1):c.11547G>A (p.Gln3849=) rs142518033
NM_000540.2(RYR1):c.11590+1G>T rs113928116
NM_000540.2(RYR1):c.11763C>A (p.Tyr3921Ter) rs377178986
NM_000540.2(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339
NM_000540.2(RYR1):c.11947C>T (p.Arg3983Cys)
NM_000540.2(RYR1):c.11958C>G (p.Asp3986Glu) rs193922842
NM_000540.2(RYR1):c.1201C>T (p.Arg401Cys) rs193922764
NM_000540.2(RYR1):c.12083C>T (p.Ser4028Leu) rs794728696
NM_000540.2(RYR1):c.122T>C (p.Phe41Ser) rs766407858
NM_000540.2(RYR1):c.12319del (p.Ile4107fs) rs754572007
NM_000540.2(RYR1):c.12553G>A (p.Ala4185Thr) rs151119428
NM_000540.2(RYR1):c.12727G>A (p.Glu4243Lys) rs1555799628
NM_000540.2(RYR1):c.13190C>G (p.Ala4397Gly) rs1057520588
NM_000540.2(RYR1):c.131G>A (p.Arg44His) rs139161723
NM_000540.2(RYR1):c.13672C>T (p.Arg4558Trp) rs771741606
NM_000540.2(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130
NM_000540.2(RYR1):c.13724A>C (p.Asn4575Thr) rs1568591803
NM_000540.2(RYR1):c.13910C>T (p.Thr4637Ile) rs118192134
NM_000540.2(RYR1):c.13912G>A (p.Gly4638Ser) rs118192136
NM_000540.2(RYR1):c.13919T>G (p.Met4640Arg) rs1568594068
NM_000540.2(RYR1):c.13934G>A (p.Arg4645Gln) rs193922860
NM_000540.2(RYR1):c.14126C>T (p.Thr4709Met) rs118192140
NM_000540.2(RYR1):c.14471T>C (p.Leu4824Pro) rs193922874
NM_000540.2(RYR1):c.14512-1G>A rs1064793932
NM_000540.2(RYR1):c.14524G>A rs193922879
NM_000540.2(RYR1):c.1453A>G (p.Met485Val) rs147723844
NM_000540.2(RYR1):c.14555A>G (p.Tyr4852Cys) rs886042826
NM_000540.2(RYR1):c.14558C>T (p.Thr4853Ile) rs1555803922
NM_000540.2(RYR1):c.14581C>T (p.Arg4861Cys) rs118192181
NM_000540.2(RYR1):c.14582G>A (p.Arg4861His) rs63749869
NM_000540.2(RYR1):c.14600G>A (p.Ser4867Asn) rs587784373
NM_000540.2(RYR1):c.14645C>T rs193922884
NM_000540.2(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.2(RYR1):c.14801A>G (p.Gln4934Arg) rs1568611775
NM_000540.2(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158
NM_000540.2(RYR1):c.14833C>T (p.Arg4945Ter) rs1432807966
NM_000540.2(RYR1):c.14928C>G (p.Phe4976Leu) rs368874586
NM_000540.2(RYR1):c.1589G>A (p.Arg530His) rs111888148
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.2356G>A (p.Val786Ile) rs369281291
NM_000540.2(RYR1):c.264C>T (p.Gly88=) rs190919088
NM_000540.2(RYR1):c.2682G>A (p.Pro894=) rs919322708
NM_000540.2(RYR1):c.282C>T (p.Gly94=) rs139629035
NM_000540.2(RYR1):c.2870+1G>A rs765241115
NM_000540.2(RYR1):c.2871-5C>T rs45585535
NM_000540.2(RYR1):c.2937G>A (p.Ala979=) rs775442275
NM_000540.2(RYR1):c.2996G>A (p.Arg999His) rs180714609
NM_000540.2(RYR1):c.3127C>T (p.Arg1043Cys) rs111272095
NM_000540.2(RYR1):c.325C>T (p.Arg109Trp) rs118192173
NM_000540.2(RYR1):c.3381C>T (p.Arg1127=) rs200780880
NM_000540.2(RYR1):c.3800C>G (p.Pro1267Arg) rs150495044
NM_000540.2(RYR1):c.4710C>T (p.Asn1570=) rs763113534
NM_000540.2(RYR1):c.4711A>G (p.Ile1571Val) rs146429605
NM_000540.2(RYR1):c.4747C>T (p.Arg1583Cys) rs754476250
NM_000540.2(RYR1):c.487C>T (p.Arg163Cys) rs118192161
NM_000540.2(RYR1):c.5120G>A (p.Arg1707His) rs371566475
NM_000540.2(RYR1):c.528G>T (p.Glu176Asp) rs1568436081
NM_000540.2(RYR1):c.5322G>A (p.Pro1774=) rs572516017
NM_000540.2(RYR1):c.5352C>A (p.Ala1784=) rs373382967
NM_000540.2(RYR1):c.5360C>T (p.Pro1787Leu) rs34934920
NM_000540.2(RYR1):c.5622A>G (p.Glu1874=) rs35021937
NM_000540.2(RYR1):c.6274+1G>A rs1226228092
NM_000540.2(RYR1):c.6318C>A (p.Ala2106=) rs769443054
NM_000540.2(RYR1):c.6502G>A (p.Val2168Met) rs118192176
NM_000540.2(RYR1):c.6599C>T (p.Ala2200Val) rs193922791
NM_000540.2(RYR1):c.6617C>T (p.Thr2206Met) rs118192177
NM_000540.2(RYR1):c.6671G>A (p.Arg2224His) rs537994744
NM_000540.2(RYR1):c.6721C>T rs200563280
NM_000540.2(RYR1):c.6838G>A (p.Val2280Ile) rs193922797
NM_000540.2(RYR1):c.6961A>G (p.Ile2321Val) rs34390345
NM_000540.2(RYR1):c.7007G>A (p.Arg2336His) rs112563513
NM_000540.2(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895
NM_000540.2(RYR1):c.7026C>T (p.Asn2342=) rs202061237
NM_000540.2(RYR1):c.7027G>A (p.Gly2343Ser) rs536596969
NM_000540.2(RYR1):c.7063C>T (p.Arg2355Trp) rs193922803
NM_000540.2(RYR1):c.7281C>T (p.Ala2427=) rs77310009
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.7385C>T (p.Pro2462Leu) rs551223467
NM_000540.2(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_000540.2(RYR1):c.7523G>A (p.Arg2508His) rs193922818
NM_000540.2(RYR1):c.7584C>T (p.Pro2528=) rs1465698
NM_000540.2(RYR1):c.8026C>T (p.Arg2676Trp) rs193922826
NM_000540.2(RYR1):c.8082G>A (p.Glu2694=) rs745619519
NM_000540.2(RYR1):c.8112C>T (p.Cys2704=) rs763722972
NM_000540.2(RYR1):c.8544C>G (p.Thr2848=) rs757718303
NM_000540.2(RYR1):c.9148G>A (p.Val3050Ile) rs200797340
NM_000540.2(RYR1):c.9310G>A (p.Glu3104Lys) rs193922832
NM_000540.2(RYR1):c.9348G>A (p.Ser3116=) rs763655831
NM_000540.2(RYR1):c.9605C>T (p.Pro3202Leu) rs754002399
NM_000540.2(RYR1):c.9635A>G (p.Glu3212Gly) rs199738299
NM_001042723.2(RYR1):c.11305del (p.Ala3769fs) rs768698639
NM_001042723.2(RYR1):c.12936_12944GCGGCGGCT[3] (p.4313_4315RRL[3]) rs193922846
NM_001042723.2(RYR1):c.14407_14408inv (p.Phe4803Asn)
NM_001042723.2(RYR1):c.14746_14748TTC[3] (p.Phe4919del) rs1064794572
NM_001042723.2(RYR1):c.2654G>A (p.Arg885His) rs370634440
NM_001042723.2(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266
NM_001042723.2(RYR1):c.7969_7970delinsA (p.Leu2657fs) rs1555785090

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