ClinVar Miner

Variants with conflicting interpretations studied for Neuromuscular disease, congenital, with uniform type 1 fiber

Coded as:
Minimum review status of the submission for Neuromuscular disease, congenital, with uniform type 1 fiber: Y axis collection method of the submission for Neuromuscular disease, congenital, with uniform type 1 fiber:
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
0 184 1 84 68 1 4 137

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
Neuromuscular disease, congenital, with uniform type 1 fiber pathogenic likely pathogenic uncertain significance likely benign benign drug response
pathogenic 0 0 0 0 0 1
uncertain significance 0 0 0 24 0 0
likely benign 1 3 44 0 82 0
benign 0 0 0 2 1 0

Condition to condition summary #

Total conditions: 19
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
RYR1-Related Disorders 0 50 0 73 28 0 0 101
not specified 0 79 0 65 21 0 0 83
not provided 0 90 0 0 42 0 0 42
Malignant hyperthermia, susceptibility to, 1 0 11 0 3 6 0 0 9
Malignant hypothermia 0 0 0 2 5 0 0 7
Myopathy, Central Core 0 314 1 1 0 0 2 4
Malignant hyperthermia 0 1 0 0 2 0 0 2
Minicore myopathy 0 0 0 0 1 0 1 2
Congenital myopathy with fiber type disproportion 0 0 0 0 1 0 0 1
Inborn genetic diseases 0 1 0 0 1 0 0 1
Muscular Diseases 0 0 0 0 0 0 1 1
Myopathy, RYR1-associated 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: 137
Download table as spreadsheet
HGVS dbSNP
NM_000540.2(RYR1):c.10048C>A (p.Arg3350=) rs200355885
NM_000540.2(RYR1):c.10119G>A (p.Val3373=) rs140689610
NM_000540.2(RYR1):c.10259+10G>A rs187018043
NM_000540.2(RYR1):c.10259+7G>A rs143752962
NM_000540.2(RYR1):c.10578G>A (p.Ala3526=) rs368360689
NM_000540.2(RYR1):c.10648C>T (p.Arg3550Trp) rs536304635
NM_000540.2(RYR1):c.10687-7C>T rs2960354
NM_000540.2(RYR1):c.10938-9C>T rs201976186
NM_000540.2(RYR1):c.10941C>G (p.His3647Gln) rs114351116
NM_000540.2(RYR1):c.11141+7A>G rs78350770
NM_000540.2(RYR1):c.1123-11C>T rs3745845
NM_000540.2(RYR1):c.11360-9T>A rs150187840
NM_000540.2(RYR1):c.11412C>T (p.Leu3804=) rs376851030
NM_000540.2(RYR1):c.11547G>A (p.Gln3849=) rs142518033
NM_000540.2(RYR1):c.11625G>A (p.Ala3875=) rs61729397
NM_000540.2(RYR1):c.11941C>T (p.His3981Tyr) rs148772854
NM_000540.2(RYR1):c.12283-7C>T rs143861818
NM_000540.2(RYR1):c.12553G>A (p.Ala4185Thr) rs151119428
NM_000540.2(RYR1):c.12588C>T (p.Ile4196=) rs61739895
NM_000540.2(RYR1):c.12741C>T (p.Ala4247=) rs80039127
NM_000540.2(RYR1):c.12879G>C (p.Ala4293=) rs193922854
NM_000540.2(RYR1):c.12956G>A (p.Arg4319Gln) rs539194350
NM_000540.2(RYR1):c.12990C>T (p.Thr4330=) rs184450380
NM_000540.2(RYR1):c.13317C>T (p.Ala4439=) rs113579185
NM_000540.2(RYR1):c.13350G>A (p.Gly4450=) rs748743312
NM_000540.2(RYR1):c.13464G>A (p.Pro4488=) rs10405232
NM_000540.2(RYR1):c.13502C>T (p.Pro4501Leu) rs73933023
NM_000540.2(RYR1):c.13503G>A (p.Pro4501=) rs2960319
NM_000540.2(RYR1):c.13505A>G (p.Glu4502Gly) rs139647387
NM_000540.2(RYR1):c.14130-8C>G rs140808099
NM_000540.2(RYR1):c.14196C>A (p.Ile4732=) rs201670423
NM_000540.2(RYR1):c.14283G>A (p.Pro4761=) rs201157293
NM_000540.2(RYR1):c.14505G>A (p.Gly4835=) rs118126378
NM_000540.2(RYR1):c.1453A>G (p.Met485Val) rs147723844
NM_000540.2(RYR1):c.14582G>A (p.Arg4861His) rs63749869
NM_000540.2(RYR1):c.14589C>T (p.Phe4863=) rs146072491
NM_000540.2(RYR1):c.14670G>C (p.Val4890=) rs773080803
NM_000540.2(RYR1):c.15015G>A (p.Thr5005=) rs2229149
NM_000540.2(RYR1):c.1577-6C>G rs61586345
NM_000540.2(RYR1):c.1923C>G (p.Thr641=) rs116591968
NM_000540.2(RYR1):c.2004C>T (p.Asp668=) rs78835441
NM_000540.2(RYR1):c.2091C>T (p.Ala697=) rs138704724
NM_000540.2(RYR1):c.2121C>A (p.Gly707=) rs146104858
NM_000540.2(RYR1):c.216G>T (p.Leu72=) rs113389877
NM_000540.2(RYR1):c.2223C>T (p.Asp741=) rs150831055
NM_000540.2(RYR1):c.2241G>A (p.Leu747=) rs34097444
NM_000540.2(RYR1):c.2319C>T (p.Asp773=) rs374924686
NM_000540.2(RYR1):c.2545G>A (p.Asp849Asn) rs200893443
NM_000540.2(RYR1):c.2654G>A (p.Arg885His) rs370634440
NM_000540.2(RYR1):c.2682+7G>A rs201498416
NM_000540.2(RYR1):c.271-7C>G rs192495718
NM_000540.2(RYR1):c.2797G>A (p.Ala933Thr) rs148623597
NM_000540.2(RYR1):c.2919C>T (p.His973=) rs139363830
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.3042G>A (p.Ala1014=) rs2228074
NM_000540.2(RYR1):c.3111C>T (p.Ser1037=) rs145434723
NM_000540.2(RYR1):c.3326G>A (p.Arg1109Lys) rs35719391
NM_000540.2(RYR1):c.3381C>T (p.Arg1127=) rs200780880
NM_000540.2(RYR1):c.3420C>T (p.Arg1140=) rs201599911
NM_000540.2(RYR1):c.3557-6C>T rs139849689
NM_000540.2(RYR1):c.3876C>A (p.Leu1292=) rs143750836
NM_000540.2(RYR1):c.3972G>A (p.Ala1324=) rs200451188
NM_000540.2(RYR1):c.4071C>T (p.Pro1357=) rs375709463
NM_000540.2(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390
NM_000540.2(RYR1):c.4269C>T (p.Pro1423=) rs2229141
NM_000540.2(RYR1):c.4292C>T (p.Thr1431Met) rs191656849
NM_000540.2(RYR1):c.4294-4C>T rs368108496
NM_000540.2(RYR1):c.4443C>T (p.Asn1481=) rs141317474
NM_000540.2(RYR1):c.4481T>C (p.Val1494Ala) rs767928113
NM_000540.2(RYR1):c.4650C>T (p.Ala1550=) rs200600174
NM_000540.2(RYR1):c.4719G>A (p.Pro1573=) rs35480887
NM_000540.2(RYR1):c.4747C>T (p.Arg1583Cys) rs754476250
NM_000540.2(RYR1):c.4758G>A (p.Pro1586=) rs374222028
NM_000540.2(RYR1):c.4878C>T (p.Ala1626=) rs369466056
NM_000540.2(RYR1):c.4894C>T (p.Pro1632Ser) rs76537615
NM_000540.2(RYR1):c.4971C>T (p.Asp1657=) rs141107290
NM_000540.2(RYR1):c.4999C>T (p.Arg1667Cys) rs144157950
NM_000540.2(RYR1):c.5036G>A (p.Arg1679His) rs146504767
NM_000540.2(RYR1):c.5317C>T (p.Pro1773Ser) rs192863857
NM_000540.2(RYR1):c.5360C>T (p.Pro1787Leu) rs34934920
NM_000540.2(RYR1):c.5493G>T (p.Gly1831=) rs140004449
NM_000540.2(RYR1):c.5565C>T (p.Gly1855=) rs61750975
NM_000540.2(RYR1):c.5622A>G (p.Glu1874=) rs35021937
NM_000540.2(RYR1):c.5634G>C (p.Glu1878Asp) rs114203198
NM_000540.2(RYR1):c.5634_5636delGGA (p.Glu1878del) rs371047178
NM_000540.2(RYR1):c.5637C>T (p.Asp1879=) rs143418190
NM_000540.2(RYR1):c.573C>T (p.Asp191=) rs892054
NM_000540.2(RYR1):c.594A>G (p.Leu198=) rs2229139
NM_000540.2(RYR1):c.6078G>A (p.Glu2026=) rs201310026
NM_000540.2(RYR1):c.6127+3A>G rs78851466
NM_000540.2(RYR1):c.6178G>T (p.Gly2060Cys) rs35364374
NM_000540.2(RYR1):c.6318C>A (p.Ala2106=) rs769443054
NM_000540.2(RYR1):c.6384C>T (p.Tyr2128=) rs75181912
NM_000540.2(RYR1):c.6498C>T (p.Leu2166=) rs151313865
NM_000540.2(RYR1):c.6645C>T (p.Leu2215=) rs146617004
NM_000540.2(RYR1):c.6654C>T (p.Gly2218=) rs149185729
NM_000540.2(RYR1):c.6732G>A (p.Arg2244=) rs78915828
NM_000540.2(RYR1):c.6961A>G (p.Ile2321Val) rs34390345
NM_000540.2(RYR1):c.725+6G>A rs201679831
NM_000540.2(RYR1):c.7281C>T (p.Ala2427=) rs77310009
NM_000540.2(RYR1):c.7385C>T (p.Pro2462Leu) rs551223467
NM_000540.2(RYR1):c.7536C>T (p.Ile2512=) rs368560744
NM_000540.2(RYR1):c.7584C>T (p.Pro2528=) rs1465698
NM_000540.2(RYR1):c.7615-7G>A rs146159174
NM_000540.2(RYR1):c.7737G>A (p.Val2579=) rs114975624
NM_000540.2(RYR1):c.7788C>T (p.Thr2596=) rs199636890
NM_000540.2(RYR1):c.7835+7C>T rs114522234
NM_000540.2(RYR1):c.7881G>A (p.Val2627=) rs201877620
NM_000540.2(RYR1):c.7923C>G (p.Leu2641=) rs142558977
NM_000540.2(RYR1):c.8068-14C>T rs57376136
NM_000540.2(RYR1):c.8082G>A (p.Glu2694=) rs745619519
NM_000540.2(RYR1):c.8310+10A>G rs372730488
NM_000540.2(RYR1):c.8327C>T (p.Ser2776Phe) rs147707463
NM_000540.2(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584
NM_000540.2(RYR1):c.8376G>A (p.Arg2792=) rs150388417
NM_000540.2(RYR1):c.8616+7G>A rs200023171
NM_000540.2(RYR1):c.8715G>C (p.Leu2905=) rs368684717
NM_000540.2(RYR1):c.873G>A (p.Ala291=) rs2229140
NM_000540.2(RYR1):c.8827G>A (p.Asp2943Asn) rs79294840
NM_000540.2(RYR1):c.8949T>C (p.Ser2983=) rs116537677
NM_000540.2(RYR1):c.897G>C (p.Val299=) rs76854339
NM_000540.2(RYR1):c.89A>T (p.Glu30Val) rs145771708
NM_000540.2(RYR1):c.906C>T (p.Asp302=) rs145943283
NM_000540.2(RYR1):c.9148G>A (p.Val3050Ile) rs200797340
NM_000540.2(RYR1):c.9242T>C (p.Met3081Thr) rs147012990
NM_000540.2(RYR1):c.9261C>T (p.Ile3087=) rs56338790
NM_000540.2(RYR1):c.9262G>A (p.Val3088Met) rs145044872
NM_000540.2(RYR1):c.9353C>T (p.Ala3118Val) rs2915960
NM_000540.2(RYR1):c.9355C>T (p.Arg3119Cys) rs61739911
NM_000540.2(RYR1):c.9414G>A (p.Pro3138=) rs116130182
NM_000540.2(RYR1):c.9555-10C>T rs774666035
NM_000540.2(RYR1):c.9555-9G>A rs149569999
NM_000540.2(RYR1):c.9635A>G (p.Glu3212Gly) rs199738299
NM_000540.2(RYR1):c.9713A>G (p.Glu3238Gly) rs200950673
NM_000540.2(RYR1):c.9771C>T (p.Ala3257=) rs75991872
NM_000540.2(RYR1):c.9882C>T (p.Ser3294=) rs142610625

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