ClinVar Miner

List of variants in gene RYR2 reported by CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario

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Gene type:
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Total variants: 93
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HGVS dbSNP
NM_001035.2(RYR2):c.8437-7dupG rs148246251
NM_001035.3(RYR2):c.10155A>G (p.Leu3385=) rs543120030
NM_001035.3(RYR2):c.10231-4T>C rs117180147
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=) rs138073811
NM_001035.3(RYR2):c.10324-4A>G rs72751287
NM_001035.3(RYR2):c.10370A>C (p.Asp3457Ala) rs544496844
NM_001035.3(RYR2):c.10528C>A (p.Arg3510Ser) rs201749277
NM_001035.3(RYR2):c.1053A>G (p.Thr351=) rs187565743
NM_001035.3(RYR2):c.10641G>A (p.Thr3547=) rs144256966
NM_001035.3(RYR2):c.10725+4A>T rs116444428
NM_001035.3(RYR2):c.10813A>G (p.Met3605Val) rs745936598
NM_001035.3(RYR2):c.10818C>A (p.Ala3606=) rs1558298221
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=) rs370332882
NM_001035.3(RYR2):c.11306G>T (p.Gly3769Val) rs1558353446
NM_001035.3(RYR2):c.1134C>T (p.Asp378=) rs193922621
NM_001035.3(RYR2):c.11835C>T (p.Val3945=) rs78939657
NM_001035.3(RYR2):c.11934G>A (p.Met3978Ile) rs794728826
NM_001035.3(RYR2):c.12085T>C (p.Ser4029Pro) rs1558403952
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) rs41267517
NM_001035.3(RYR2):c.12430C>T (p.Arg4144Cys) rs1298823746
NM_001035.3(RYR2):c.13326C>T (p.Ala4442=) rs768161152
NM_001035.3(RYR2):c.13528G>A (p.Ala4510Thr) rs397516510
NM_001035.3(RYR2):c.1354G>A (p.Val452Ile) rs375218751
NM_001035.3(RYR2):c.13553T>C (p.Leu4518Pro) rs1558422697
NM_001035.3(RYR2):c.13656T>C (p.His4552=) rs397516512
NM_001035.3(RYR2):c.1392C>A (p.His464Gln) rs749032742
NM_001035.3(RYR2):c.13977G>A (p.Glu4659=) rs78369334
NM_001035.3(RYR2):c.13983C>T (p.Tyr4661=) rs138498780
NM_001035.3(RYR2):c.14029C>T (p.Leu4677=) rs112864477
NM_001035.3(RYR2):c.14302G>A (p.Val4768Ile)
NM_001035.3(RYR2):c.14421C>T (p.Asp4807=) rs75206601
NM_001035.3(RYR2):c.14481C>T (p.Ile4827=) rs114303476
NM_001035.3(RYR2):c.14593C>G (p.Leu4865Val) rs1197708875
NM_001035.3(RYR2):c.1863C>T (p.His621=) rs17686573
NM_001035.3(RYR2):c.2046A>G (p.Thr682=) rs116098815
NM_001035.3(RYR2):c.2204-7C>G rs147479514
NM_001035.3(RYR2):c.2301G>T (p.Ser767=) rs117588730
NM_001035.3(RYR2):c.2397-6C>T rs78165942
NM_001035.3(RYR2):c.2574G>A (p.Thr858=) rs367992907
NM_001035.3(RYR2):c.2719-4T>A rs397516523
NM_001035.3(RYR2):c.2760G>A (p.Glu920=) rs186181155
NM_001035.3(RYR2):c.3030T>C (p.Asp1010=) rs138064129
NM_001035.3(RYR2):c.3153C>T (p.Arg1051=) rs397516524
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.3423+6T>G rs1057521957
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.3888C>T (p.Asn1296=) rs373721253
NM_001035.3(RYR2):c.4276-9T>C rs1559081633
NM_001035.3(RYR2):c.4368C>G (p.Gly1456=) rs1057522920
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676
NM_001035.3(RYR2):c.4635A>C (p.Ala1545=) rs1559095013
NM_001035.3(RYR2):c.4740G>A (p.Pro1580=) rs79811945
NM_001035.3(RYR2):c.4815G>A (p.Lys1605=) rs1559110544
NM_001035.3(RYR2):c.4875G>A (p.Leu1625=) rs369323506
NM_001035.3(RYR2):c.4912T>A (p.Ser1638Thr) rs794728739
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.5127C>A (p.Ile1709=) rs1553522097
NM_001035.3(RYR2):c.5154G>A (p.Arg1718=) rs114534505
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys) rs564806219
NM_001035.3(RYR2):c.5586C>T (p.Asp1862=) rs193922628
NM_001035.3(RYR2):c.5613C>T (p.Asp1871=) rs116774472
NM_001035.3(RYR2):c.576+7G>C rs10925392
NM_001035.3(RYR2):c.5916+9A>G rs1002006336
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.6555+6G>A rs372661934
NM_001035.3(RYR2):c.684C>T (p.Leu228=) rs72549417
NM_001035.3(RYR2):c.6928+4G>A rs79862521
NM_001035.3(RYR2):c.7052T>C (p.Ile2351Thr) rs1282045319
NM_001035.3(RYR2):c.7062C>T (p.Ala2354=) rs182038403
NM_001035.3(RYR2):c.710T>C (p.Leu237Pro) rs1400197755
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.8145G>T (p.Glu2715Asp) rs200420897
NM_001035.3(RYR2):c.8209-4T>C rs371966353
NM_001035.3(RYR2):c.828A>G (p.Arg276=) rs180711819
NM_001035.3(RYR2):c.8448C>T (p.Asp2816=) rs144876996
NM_001035.3(RYR2):c.8692A>G (p.Ile2898Val) rs1558193694
NM_001035.3(RYR2):c.8736G>A (p.Leu2912=) rs762521873
NM_001035.3(RYR2):c.892C>T (p.Arg298Cys) rs551099887
NM_001035.3(RYR2):c.9449+8T>A rs60777199
NM_001035.3(RYR2):c.9519T>C (p.Thr3173=) rs371931287
NM_001035.3(RYR2):c.9581-8T>C rs1558258551
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met) rs371147744
NM_001035.3(RYR2):c.9666C>T (p.Ala3222=) rs116442127
NM_001035.3(RYR2):c.9820A>G (p.Asn3274Asp) rs751551400
NM_001035.3(RYR2):c.9867G>A (p.Gly3289=) rs190537182

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