ClinVar Miner

List of variants in gene RYR2 reported as likely benign by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Gene type:
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Total variants: 119
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HGVS dbSNP
NM_001035.2(RYR2):c.14091-11dup rs35563566
NM_001035.3(RYR2):c.10047G>A (p.Ser3349=) rs144428932
NM_001035.3(RYR2):c.1005+13A>G rs552027921
NM_001035.3(RYR2):c.10231-5C>T rs186326951
NM_001035.3(RYR2):c.10293T>C (p.Leu3431=) rs727505058
NM_001035.3(RYR2):c.1056T>C (p.Ser352=) rs876657573
NM_001035.3(RYR2):c.10602A>G (p.Leu3534=) rs397516498
NM_001035.3(RYR2):c.1077A>G (p.Ser359=) rs727505317
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=) rs370332882
NM_001035.3(RYR2):c.11039+13G>T rs727504882
NM_001035.3(RYR2):c.11092-11del rs397516499
NM_001035.3(RYR2):c.11092-11dup rs397516499
NM_001035.3(RYR2):c.11092-12_11092-11del rs397516499
NM_001035.3(RYR2):c.11115C>T (p.Asp3705=) rs752297019
NM_001035.3(RYR2):c.11326-4A>G rs727504876
NM_001035.3(RYR2):c.1134C>T (p.Asp378=) rs193922621
NM_001035.3(RYR2):c.1135G>A (p.Val379Met) rs199693714
NM_001035.3(RYR2):c.11382C>T (p.Ala3794=) rs760519786
NM_001035.3(RYR2):c.11385C>A (p.Gly3795=) rs919989129
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.1170+15A>G rs727504810
NM_001035.3(RYR2):c.11775+13del rs397516507
NM_001035.3(RYR2):c.12114T>C (p.Asp4038=) rs368103385
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) rs41267517
NM_001035.3(RYR2):c.12207T>C (p.Cys4069=) rs756280887
NM_001035.3(RYR2):c.12609G>T (p.Ala4203=) rs372943408
NM_001035.3(RYR2):c.12663C>T (p.Ser4221=) rs370297602
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=) rs373606009
NM_001035.3(RYR2):c.12842C>T (p.Thr4281Met) rs201829896
NM_001035.3(RYR2):c.12957C>T (p.Val4319=) rs727504438
NM_001035.3(RYR2):c.13071C>T (p.Ala4357=) rs876657574
NM_001035.3(RYR2):c.13137C>A (p.Ile4379=) rs369917806
NM_001035.3(RYR2):c.13206C>T (p.Leu4402=) rs397516509
NM_001035.3(RYR2):c.13326C>T (p.Ala4442=) rs768161152
NM_001035.3(RYR2):c.13593G>A (p.Lys4531=) rs548313130
NM_001035.3(RYR2):c.13656T>C (p.His4552=) rs397516512
NM_001035.3(RYR2):c.14091-11del rs35563566
NM_001035.3(RYR2):c.14415A>G (p.Lys4805=) rs397516515
NM_001035.3(RYR2):c.1446G>A (p.Leu482=) rs397516517
NM_001035.3(RYR2):c.14484G>T (p.Gly4828=) rs370996795
NM_001035.3(RYR2):c.1477-11del rs397516518
NM_001035.3(RYR2):c.1477-11dup rs397516518
NM_001035.3(RYR2):c.1477-8C>T rs876657575
NM_001035.3(RYR2):c.1518C>T (p.His506=) rs372620246
NM_001035.3(RYR2):c.1548T>C (p.Asp516=) rs146129084
NM_001035.3(RYR2):c.1612+13A>G rs368200572
NM_001035.3(RYR2):c.186C>T (p.Leu62=) rs754375280
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn) rs193922623
NM_001035.3(RYR2):c.231G>A (p.Ala77=) rs376225470
NM_001035.3(RYR2):c.2396+12T>A rs876657576
NM_001035.3(RYR2):c.2562A>G (p.Thr854=) rs727503398
NM_001035.3(RYR2):c.2719-4T>A rs397516523
NM_001035.3(RYR2):c.2760G>A (p.Glu920=) rs186181155
NM_001035.3(RYR2):c.2871T>C (p.Ala957=) rs771821687
NM_001035.3(RYR2):c.294+15G>A rs750047302
NM_001035.3(RYR2):c.3054T>C (p.Tyr1018=) rs113422365
NM_001035.3(RYR2):c.3153C>T (p.Arg1051=) rs397516524
NM_001035.3(RYR2):c.3225C>T (p.Ala1075=) rs727505215
NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys) rs193922624
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962
NM_001035.3(RYR2):c.3423+10C>A rs876657577
NM_001035.3(RYR2):c.345C>T (p.Tyr115=) rs397516525
NM_001035.3(RYR2):c.3537T>C (p.Gly1179=) rs397516526
NM_001035.3(RYR2):c.3567A>G (p.Glu1189=) rs368959706
NM_001035.3(RYR2):c.3599-9del rs11331089
NM_001035.3(RYR2):c.3721G>A (p.Val1241Ile) rs185715460
NM_001035.3(RYR2):c.3735G>A (p.Arg1245=) rs190884873
NM_001035.3(RYR2):c.375T>C (p.Tyr125=) rs397516528
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.3921G>A (p.Pro1307=) rs201469656
NM_001035.3(RYR2):c.3978C>G (p.Gly1326=) rs745839967
NM_001035.3(RYR2):c.4068C>T (p.Pro1356=) rs199821105
NM_001035.3(RYR2):c.4125T>C (p.Asp1375=) rs397516529
NM_001035.3(RYR2):c.4160+10T>C rs397516530
NM_001035.3(RYR2):c.4160+7A>G rs377465289
NM_001035.3(RYR2):c.4209A>G (p.Ala1403=) rs727505126
NM_001035.3(RYR2):c.4329G>A (p.Val1443=) rs397516531
NM_001035.3(RYR2):c.4347T>C (p.Asp1449=) rs368930040
NM_001035.3(RYR2):c.4395A>C (p.Val1465=) rs1308165341
NM_001035.3(RYR2):c.4410A>G (p.Gly1470=) rs727503399
NM_001035.3(RYR2):c.4445G>A (p.Arg1482His) rs373024059
NM_001035.3(RYR2):c.463+6dup rs397516534
NM_001035.3(RYR2):c.4734C>T (p.Pro1578=) rs201880756
NM_001035.3(RYR2):c.4770C>T (p.Phe1590=) rs397516536
NM_001035.3(RYR2):c.4941G>A (p.Gln1647=) rs727504997
NM_001035.3(RYR2):c.4950G>A (p.Leu1650=) rs376251968
NM_001035.3(RYR2):c.5001T>C (p.Leu1667=) rs397516537
NM_001035.3(RYR2):c.5136C>T (p.Ser1712=) rs397516540
NM_001035.3(RYR2):c.5190G>A (p.Thr1730=) rs397516541
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.5616T>C (p.Asp1872=) rs765786213
NM_001035.3(RYR2):c.5619A>G (p.Ala1873=) rs373282364
NM_001035.3(RYR2):c.5754C>T (p.Val1918=) rs397516545
NM_001035.3(RYR2):c.594C>T (p.Asn198=) rs727504676
NM_001035.3(RYR2):c.6166+8G>A rs373112536
NM_001035.3(RYR2):c.6555+6G>A rs372661934
NM_001035.3(RYR2):c.6689-12T>C rs370972311
NM_001035.3(RYR2):c.6738G>A (p.Ser2246=) rs368207198
NM_001035.3(RYR2):c.684C>T (p.Leu228=) rs72549417
NM_001035.3(RYR2):c.7075C>A (p.Arg2359=) rs200921429
NM_001035.3(RYR2):c.7161G>A (p.Ala2387=) rs371560909
NM_001035.3(RYR2):c.7222-12dup rs145140335
NM_001035.3(RYR2):c.7233C>T (p.Ala2411=) rs367994477
NM_001035.3(RYR2):c.7287G>A (p.Leu2429=) rs876657578
NM_001035.3(RYR2):c.7359A>G (p.Glu2453=) rs779456443
NM_001035.3(RYR2):c.7494G>A (p.Ala2498=) rs533068485
NM_001035.3(RYR2):c.7608T>C (p.Ala2536=) rs367987360
NM_001035.3(RYR2):c.8714+13A>G rs876657579
NM_001035.3(RYR2):c.8736G>A (p.Leu2912=) rs762521873
NM_001035.3(RYR2):c.8913T>C (p.Ile2971=) rs755520825
NM_001035.3(RYR2):c.9198G>A (p.Glu3066=) rs727504729
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.9672C>T (p.Ser3224=) rs370740528
NM_001035.3(RYR2):c.9891G>A (p.Lys3297=) rs368661838

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