ClinVar Miner

Variants in gene RYR2 with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
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 per condition Variants with at least 2 submissions on the same condition 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 conflict
3422 228 4 95 75 0 9 170

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.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 4 6 2 0 0
likely pathogenic 6 0 7 0 0
uncertain significance 2 7 0 68 15
likely benign 0 0 68 0 89
benign 0 0 15 89 0

All variants with conflicting interpretations #

Total variants: 170
Download table as spreadsheet
HGVS dbSNP
NM_001035.2(RYR2):c.(?_169)_(273_?)del (p.(?))
NM_001035.2(RYR2):c.14091-11dup rs35563566
NM_001035.2(RYR2):c.8437-7dupG rs148246251
NM_001035.3(RYR2):c.10017C>T (p.His3339=) rs376439588
NM_001035.3(RYR2):c.10035G>A (p.Arg3345=) rs754976419
NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu) rs786205455
NM_001035.3(RYR2):c.1005+13A>G rs552027921
NM_001035.3(RYR2):c.10155A>G (p.Leu3385=) rs543120030
NM_001035.3(RYR2):c.10221G>A (p.Ser3407=) rs373769240
NM_001035.3(RYR2):c.10230+20T>C rs74323916
NM_001035.3(RYR2):c.10231-4T>C rs117180147
NM_001035.3(RYR2):c.10231-5C>T rs186326951
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=) rs138073811
NM_001035.3(RYR2):c.10324-4A>G rs72751287
NM_001035.3(RYR2):c.10381A>G (p.Met3461Val) rs147512481
NM_001035.3(RYR2):c.10554+16T>C rs370288739
NM_001035.3(RYR2):c.10641G>A (p.Thr3547=) rs144256966
NM_001035.3(RYR2):c.10725+4A>T rs116444428
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=) rs370332882
NM_001035.3(RYR2):c.11039+7T>C rs569571855
NM_001035.3(RYR2):c.1108C>T (p.Leu370=) rs534621173
NM_001035.3(RYR2):c.11246-11del rs397516503
NM_001035.3(RYR2):c.1134C>T (p.Asp378=) rs193922621
NM_001035.3(RYR2):c.1143C>T (p.Ser381=) rs368844286
NM_001035.3(RYR2):c.11496C>T (p.Asp3832=) rs397516505
NM_001035.3(RYR2):c.11811C>T (p.His3937=)
NM_001035.3(RYR2):c.12027C>T (p.Asn4009=) rs763374929
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) rs41267517
NM_001035.3(RYR2):c.1240C>T (p.Arg414Cys) rs764698152
NM_001035.3(RYR2):c.12492G>A (p.Gln4164=) rs377293019
NM_001035.3(RYR2):c.12540C>T (p.Gly4180=) rs772125105
NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln) rs794728721
NM_001035.3(RYR2):c.12602A>G (p.Gln4201Arg) rs121918605
NM_001035.3(RYR2):c.12609G>T (p.Ala4203=) rs372943408
NM_001035.3(RYR2):c.12648G>A (p.Ala4216=) rs781557399
NM_001035.3(RYR2):c.12667_12669del (p.Lys4223del) rs794728838
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=) rs373606009
NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys) rs200092869
NM_001035.3(RYR2):c.1296C>A (p.Gly432=) rs184176405
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys) rs571985775
NM_001035.3(RYR2):c.13326C>T (p.Ala4442=) rs768161152
NM_001035.3(RYR2):c.13449A>G (p.Lys4483=) rs1008224442
NM_001035.3(RYR2):c.13489C>T (p.Arg4497Cys) rs121918600
NM_001035.3(RYR2):c.13528G>A (p.Ala4510Thr) rs397516510
NM_001035.3(RYR2):c.13566C>T (p.Val4522=) rs57360419
NM_001035.3(RYR2):c.13656T>C (p.His4552=) rs397516512
NM_001035.3(RYR2):c.13665C>T (p.Ile4555=) rs375213838
NM_001035.3(RYR2):c.13672C>T (p.His4558Tyr) rs773264033
NM_001035.3(RYR2):c.13782+20A>G
NM_001035.3(RYR2):c.13957G>T (p.Val4653Phe) rs121918604
NM_001035.3(RYR2):c.13983C>T (p.Tyr4661=) rs138498780
NM_001035.3(RYR2):c.14091-11del rs35563566
NM_001035.3(RYR2):c.14101A>G (p.Ile4701Val) rs755065507
NM_001035.3(RYR2):c.14173T>A (p.Tyr4725Asn) rs876661387
NM_001035.3(RYR2):c.14251A>C (p.Lys4751Gln) rs794728802
NM_001035.3(RYR2):c.14484G>T (p.Gly4828=) rs370996795
NM_001035.3(RYR2):c.14703G>C (p.Val4901=) rs201371633
NM_001035.3(RYR2):c.14756+12C>T rs2275693
NM_001035.3(RYR2):c.14757-7_14757-6delinsAT rs727504630
NM_001035.3(RYR2):c.1476+4C>T rs369442980
NM_001035.3(RYR2):c.1477-11del rs397516518
NM_001035.3(RYR2):c.1477-11dup rs397516518
NM_001035.3(RYR2):c.14809-15C>G rs790897
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_001035.3(RYR2):c.1527C>T (p.Ser509=) rs886042568
NM_001035.3(RYR2):c.1548T>C (p.Asp516=) rs146129084
NM_001035.3(RYR2):c.1822C>T (p.His608Tyr) rs727504718
NM_001035.3(RYR2):c.2204-7C>G rs147479514
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn) rs193922623
NM_001035.3(RYR2):c.2301G>T (p.Ser767=) rs117588730
NM_001035.3(RYR2):c.231G>A (p.Ala77=) rs376225470
NM_001035.3(RYR2):c.2389G>A (p.Gly797Arg) rs200121281
NM_001035.3(RYR2):c.2396+17T>G rs376363428
NM_001035.3(RYR2):c.2449C>G (p.Pro817Ala) rs780266883
NM_001035.3(RYR2):c.2574G>A (p.Thr858=) rs367992907
NM_001035.3(RYR2):c.2613+8G>A rs776678807
NM_001035.3(RYR2):c.2630A>C (p.His877Pro) rs561321743
NM_001035.3(RYR2):c.2755G>A (p.Val919Met) rs201079716
NM_001035.3(RYR2):c.2760G>A (p.Glu920=) rs186181155
NM_001035.3(RYR2):c.2935G>T (p.Ala979Ser) rs202015519
NM_001035.3(RYR2):c.3024G>A (p.Ala1008=) rs566157997
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924
NM_001035.3(RYR2):c.3054T>C (p.Tyr1018=) rs113422365
NM_001035.3(RYR2):c.3151C>T (p.Arg1051Cys) rs533330664
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His) rs79457258
NM_001035.3(RYR2):c.3153C>T (p.Arg1051=) rs397516524
NM_001035.3(RYR2):c.3180C>T (p.Tyr1060=) rs398123540
NM_001035.3(RYR2):c.3225C>T (p.Ala1075=) rs727505215
NM_001035.3(RYR2):c.3230T>C (p.Val1077Ala) rs202176504
NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys) rs193922624
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met) rs200236750
NM_001035.3(RYR2):c.3372G>A (p.Pro1124=) rs368017980
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415
NM_001035.3(RYR2):c.3537T>C (p.Gly1179=) rs397516526
NM_001035.3(RYR2):c.3599-9del rs11331089
NM_001035.3(RYR2):c.3720C>T (p.Ala1240=) rs750335699
NM_001035.3(RYR2):c.3721G>A (p.Val1241Ile) rs185715460
NM_001035.3(RYR2):c.37T>C (p.Phe13Leu) rs794728761
NM_001035.3(RYR2):c.385-14T>C rs372287944
NM_001035.3(RYR2):c.385-9A>C rs140998248
NM_001035.3(RYR2):c.3888C>T (p.Asn1296=) rs373721253
NM_001035.3(RYR2):c.4044G>A (p.Lys1348=) rs755391572
NM_001035.3(RYR2):c.4069G>C (p.Asp1357His) rs193922626
NM_001035.3(RYR2):c.4094C>T (p.Ala1365Val) rs373261115
NM_001035.3(RYR2):c.4101A>G (p.Lys1367=) rs376792533
NM_001035.3(RYR2):c.4160+7A>G rs377465289
NM_001035.3(RYR2):c.4347T>C (p.Asp1449=) rs368930040
NM_001035.3(RYR2):c.4445G>A (p.Arg1482His) rs373024059
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676
NM_001035.3(RYR2):c.4596+12G>A rs148557427
NM_001035.3(RYR2):c.463+6C>T rs397516533
NM_001035.3(RYR2):c.463+7A>G rs755850445
NM_001035.3(RYR2):c.463+9C>T rs559545973
NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser) rs185237690
NM_001035.3(RYR2):c.4734C>T (p.Pro1578=) rs201880756
NM_001035.3(RYR2):c.4740G>A (p.Pro1580=) rs79811945
NM_001035.3(RYR2):c.4747C>T (p.Pro1583Ser) rs200070226
NM_001035.3(RYR2):c.4875G>A (p.Leu1625=) rs369323506
NM_001035.3(RYR2):c.4989C>T (p.Ala1663=) rs147060179
NM_001035.3(RYR2):c.5001T>C (p.Leu1667=) rs397516537
NM_001035.3(RYR2):c.5241C>G (p.Gly1747=) rs533362755
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys) rs564806219
NM_001035.3(RYR2):c.5571G>A (p.Pro1857=) rs371934582
NM_001035.3(RYR2):c.5586C>T (p.Asp1862=) rs193922628
NM_001035.3(RYR2):c.5619A>G (p.Ala1873=) rs373282364
NM_001035.3(RYR2):c.5712G>A (p.Leu1904=) rs377763336
NM_001035.3(RYR2):c.5756G>A (p.Arg1919Gln) rs199893812
NM_001035.3(RYR2):c.5923A>G (p.Met1975Val) rs200318013
NM_001035.3(RYR2):c.615C>T (p.Ala205=) rs112680790
NM_001035.3(RYR2):c.6337G>A (p.Val2113Met) rs186906598
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525
NM_001035.3(RYR2):c.6555+6G>A rs372661934
NM_001035.3(RYR2):c.6689-12T>C rs370972311
NM_001035.3(RYR2):c.6829T>C (p.Cys2277Arg) rs794727676
NM_001035.3(RYR2):c.684C>T (p.Leu228=) rs72549417
NM_001035.3(RYR2):c.6982C>T (p.Pro2328Ser) rs121918603
NM_001035.3(RYR2):c.7159G>A (p.Ala2387Thr) rs794728753
NM_001035.3(RYR2):c.7161G>A (p.Ala2387=) rs371560909
NM_001035.3(RYR2):c.7222-12dup rs145140335
NM_001035.3(RYR2):c.726C>T (p.Asp242=) rs76380341
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=) rs72549416
NM_001035.3(RYR2):c.7443A>G (p.Gln2481=) rs759314800
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=) rs143906555
NM_001035.3(RYR2):c.7493C>T (p.Ala2498Val) rs374191985
NM_001035.3(RYR2):c.7542G>A (p.Leu2514=) rs371088367
NM_001035.3(RYR2):c.7619A>G (p.His2540Arg) rs200105499
NM_001035.3(RYR2):c.774-14G>T rs370114411
NM_001035.3(RYR2):c.7925G>A (p.Arg2642Lys) rs377473366
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp) rs200420897
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr) rs201500134
NM_001035.3(RYR2):c.8209-3A>G rs376788358
NM_001035.3(RYR2):c.8209-4T>C rs371966353
NM_001035.3(RYR2):c.828A>G (p.Arg276=) rs180711819
NM_001035.3(RYR2):c.8367T>C (p.Ile2789=) rs563219502
NM_001035.3(RYR2):c.848+1G>A rs772984053
NM_001035.3(RYR2):c.8736G>A (p.Leu2912=) rs762521873
NM_001035.3(RYR2):c.8831-9A>C rs187977513
NM_001035.3(RYR2):c.8896-9T>C rs773401697
NM_001035.3(RYR2):c.8913T>C (p.Ile2971=) rs755520825
NM_001035.3(RYR2):c.892C>T (p.Arg298Cys) rs551099887
NM_001035.3(RYR2):c.9318T>A (p.Ser3106=) rs2797436
NM_001035.3(RYR2):c.9450-3T>C rs188671846
NM_001035.3(RYR2):c.9519T>C (p.Thr3173=) rs371931287
NM_001035.3(RYR2):c.9560A>G (p.Lys3187Arg) rs184218219
NM_001035.3(RYR2):c.9619A>G (p.Asn3207Asp) rs372601642
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met) rs371147744
NM_001035.3(RYR2):c.9672C>T (p.Ser3224=) rs370740528
NM_001035.3(RYR2):c.9820A>G (p.Asn3274Asp) rs751551400
NM_001035.3(RYR2):c.9867G>A (p.Gly3289=) rs190537182

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