ClinVar Miner

List of variants in gene RYR1 reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 140
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HGVS dbSNP
NM_000540.2(RYR1):c.*7C>G rs398123468
NM_000540.2(RYR1):c.10032C>T (p.Pro3344=)
NM_000540.2(RYR1):c.10097G>A (p.Arg3366His) rs137932199
NM_000540.2(RYR1):c.10119G>A (p.Val3373=) rs140689610
NM_000540.2(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058
NM_000540.2(RYR1):c.10292C>T (p.Ala3431Val)
NM_000540.2(RYR1):c.10504C>T (p.Arg3502Trp) rs375127981
NM_000540.2(RYR1):c.10616G>A (p.Arg3539His) rs143987857
NM_000540.2(RYR1):c.10648C>T (p.Arg3550Trp) rs536304635
NM_000540.2(RYR1):c.10917G>A (p.Thr3639=) rs371952058
NM_000540.2(RYR1):c.1172G>A (p.Arg391His) rs769387053
NM_000540.2(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339
NM_000540.2(RYR1):c.11811G>A (p.Ser3937=) rs794727946
NM_000540.2(RYR1):c.12083C>T (p.Ser4028Leu) rs794728696
NM_000540.2(RYR1):c.12121C>T (p.Arg4041Trp) rs144685735
NM_000540.2(RYR1):c.12629A>G (p.Lys4210Arg) rs138932463
NM_000540.2(RYR1):c.12852_12860CACGGCGGC[1] (p.4285_4287TAA[1]) rs398123469
NM_000540.2(RYR1):c.12852_12860CACGGCGGC[3] (p.4285_4287TAA[3]) rs398123469
NM_000540.2(RYR1):c.12860_12869delinsT (p.Ala4287_Ala4290delinsVal) rs796065337
NM_000540.2(RYR1):c.12879G>C (p.Ala4293=) rs193922854
NM_000540.2(RYR1):c.12881C>T (p.Thr4294Met) rs587784372
NM_000540.2(RYR1):c.12884C>T (p.Ala4295Val) rs193922855
NM_000540.2(RYR1):c.12956G>A (p.Arg4319Gln) rs539194350
NM_000540.2(RYR1):c.12990C>G (p.Thr4330=) rs184450380
NM_000540.2(RYR1):c.13044G>A (p.Ala4348=) rs794727985
NM_000540.2(RYR1):c.13090G>A (p.Gly4364Ser) rs1568583309
NM_000540.2(RYR1):c.130C>T (p.Arg44Cys) rs193922748
NM_000540.2(RYR1):c.13142C>G (p.Ala4381Gly) rs794727983
NM_000540.2(RYR1):c.13244_13264dup (p.Ala4415_Asp4421dup) rs763413580
NM_000540.2(RYR1):c.13271A>C (p.Glu4424Ala) rs752665367
NM_000540.2(RYR1):c.13350G>A (p.Gly4450=) rs748743312
NM_000540.2(RYR1):c.13369A>T (p.Met4457Leu) rs867851900
NM_000540.2(RYR1):c.13498G>A (p.Glu4500Lys) rs752192756
NM_000540.2(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.2(RYR1):c.13547A>G (p.Glu4516Gly) rs149984626
NM_000540.2(RYR1):c.13565C>T (p.Pro4522Leu) rs145167688
NM_000540.2(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130
NM_000540.2(RYR1):c.13680T>C (p.Phe4560=) rs377664510
NM_000540.2(RYR1):c.13690C>T (p.Arg4564Trp) rs753208767
NM_000540.2(RYR1):c.13851A>G (p.Gly4617=) rs794727989
NM_000540.2(RYR1):c.13924C>G (p.Pro4642Ala) rs780958728
NM_000540.2(RYR1):c.14203C>T (p.Arg4735Trp) rs766887342
NM_000540.2(RYR1):c.14270G>A (p.Arg4757His) rs768360593
NM_000540.2(RYR1):c.14344G>A (p.Gly4782Arg) rs746538672
NM_000540.2(RYR1):c.14416A>G (p.Asn4806Asp) rs886039586
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.14639T>A (p.Met4880Lys) rs193922883
NM_000540.2(RYR1):c.14672G>A (p.Gly4891Asp) rs398123470
NM_000540.2(RYR1):c.14680G>C (p.Ala4894Pro) rs193922888
NM_000540.2(RYR1):c.14717C>G (p.Ala4906Gly) rs118192153
NM_000540.2(RYR1):c.14731G>A (p.Glu4911Lys) rs886044196
NM_000540.2(RYR1):c.14817C>T (p.Asp4939=) rs193922895
NM_000540.2(RYR1):c.14939C>T (p.Thr4980Met) rs398123471
NM_000540.2(RYR1):c.152C>A (p.Thr51Asn) rs193922749
NM_000540.2(RYR1):c.1532C>A (p.Ala511Asp) rs886042652
NM_000540.2(RYR1):c.1598G>A (p.Arg533His) rs144336148
NM_000540.2(RYR1):c.161C>T (p.Ala54Val)
NM_000540.2(RYR1):c.1810T>C (p.Ser604Pro)
NM_000540.2(RYR1):c.1931G>A (p.Arg644His) rs766150328
NM_000540.2(RYR1):c.2037C>A (p.Thr679=) rs571569206
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.2160C>G (p.Leu720=) rs200914778
NM_000540.2(RYR1):c.2275A>G (p.Asn759Asp) rs147320363
NM_000540.2(RYR1):c.2319C>T (p.Asp773=) rs374924686
NM_000540.2(RYR1):c.2635G>A (p.Glu879Lys) rs746904839
NM_000540.2(RYR1):c.2687G>A (p.Arg896Gln)
NM_000540.2(RYR1):c.271-7C>G rs192495718
NM_000540.2(RYR1):c.2996G>A (p.Arg999His) rs180714609
NM_000540.2(RYR1):c.3047G>A (p.Arg1016Gln) rs373541911
NM_000540.2(RYR1):c.3108C>A (p.Asp1036Glu) rs759317223
NM_000540.2(RYR1):c.3111C>T (p.Ser1037=) rs145434723
NM_000540.2(RYR1):c.3127C>T (p.Arg1043Cys) rs111272095
NM_000540.2(RYR1):c.3175C>T (p.Pro1059Ser) rs558190898
NM_000540.2(RYR1):c.3208C>T (p.Arg1070Trp) rs368950468
NM_000540.2(RYR1):c.3381C>T (p.Arg1127=) rs200780880
NM_000540.2(RYR1):c.3557-7C>A rs745912857
NM_000540.2(RYR1):c.4038C>A (p.Asn1346Lys) rs777049924
NM_000540.2(RYR1):c.4113G>C (p.Arg1371Ser) rs551509462
NM_000540.2(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390
NM_000540.2(RYR1):c.4230C>T (p.Leu1410=) rs750872878
NM_000540.2(RYR1):c.4293G>A (p.Thr1431=) rs727504130
NM_000540.2(RYR1):c.443C>T (p.Thr148Ile) rs151325948
NM_000540.2(RYR1):c.4711A>G (p.Ile1571Val) rs146429605
NM_000540.2(RYR1):c.4878C>T (p.Ala1626=) rs369466056
NM_000540.2(RYR1):c.4980C>T (p.Arg1660=) rs374115286
NM_000540.2(RYR1):c.5009G>A (p.Arg1670His) rs1248039154
NM_000540.2(RYR1):c.5020G>A (p.Ala1674Thr) rs1460141666
NM_000540.2(RYR1):c.5036G>A (p.Arg1679His) rs146504767
NM_000540.2(RYR1):c.5120G>A (p.Arg1707His) rs371566475
NM_000540.2(RYR1):c.514_519del (p.171_172VS[1]) rs794727779
NM_000540.2(RYR1):c.5235G>A (p.Thr1745=) rs149471411
NM_000540.2(RYR1):c.526G>A (p.Glu176Lys) rs761616815
NM_000540.2(RYR1):c.5309C>T (p.Ser1770Leu) rs398123472
NM_000540.2(RYR1):c.5336C>T (p.Pro1779Leu) rs765255811
NM_000540.2(RYR1):c.5364T>G (p.Ala1788=) rs200950362
NM_000540.2(RYR1):c.5484C>T (p.Asp1828=) rs775744847
NM_000540.2(RYR1):c.5488G>A (p.Val1830Ile) rs147603571
NM_000540.2(RYR1):c.5637C>T (p.Asp1879=) rs143418190
NM_000540.2(RYR1):c.5736G>A (p.Glu1912=) rs753416949
NM_000540.2(RYR1):c.6150G>A (p.Glu2050=) rs727504131
NM_000540.2(RYR1):c.624C>T (p.Cys208=) rs746914281
NM_000540.2(RYR1):c.6359T>C (p.Met2120Thr) rs398123473
NM_000540.2(RYR1):c.6406C>T (p.Arg2136Cys) rs886043937
NM_000540.2(RYR1):c.641C>T (p.Thr214Met) rs727504129
NM_000540.2(RYR1):c.6564C>G (p.Asn2188Lys) rs373570763
NM_000540.2(RYR1):c.6640G>A (p.Val2214Ile) rs193922795
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.6904C>T (p.Leu2302=) rs886042146
NM_000540.2(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895
NM_000540.2(RYR1):c.7433C>A (p.Thr2478Asn) rs141298868
NM_000540.2(RYR1):c.7608G>A (p.Leu2536=) rs201686887
NM_000540.2(RYR1):c.7615-5C>T rs768008924
NM_000540.2(RYR1):c.7771C>G (p.Arg2591Gly) rs193922822
NM_000540.2(RYR1):c.7798C>T (p.Arg2600Cys) rs1480598842
NM_000540.2(RYR1):c.7923C>G (p.Leu2641=) rs142558977
NM_000540.2(RYR1):c.8073C>T (p.Tyr2691=) rs202160739
NM_000540.2(RYR1):c.8305G>A (p.Asp2769Asn) rs566495420
NM_000540.2(RYR1):c.8327C>T (p.Ser2776Phe) rs147707463
NM_000540.2(RYR1):c.845G>A (p.Arg282Gln) rs201164249
NM_000540.2(RYR1):c.8505A>T (p.Glu2835Asp) rs144777676
NM_000540.2(RYR1):c.8733C>A (p.Leu2911=) rs200427576
NM_000540.2(RYR1):c.9242T>C (p.Met3081Thr) rs147012990
NM_000540.2(RYR1):c.9262G>A (p.Val3088Met) rs145044872
NM_000540.2(RYR1):c.9262G>C (p.Val3088Leu) rs145044872
NM_000540.2(RYR1):c.9354G>A (p.Ala3118=) rs146408926
NM_000540.2(RYR1):c.9355C>T (p.Arg3119Cys) rs61739911
NM_000540.2(RYR1):c.9385C>T (p.Leu3129Phe) rs143445685
NM_000540.2(RYR1):c.9456C>T (p.Phe3152=) rs369206584
NM_000540.2(RYR1):c.94C>T (p.Leu32Phe) rs138630815
NM_000540.2(RYR1):c.957+5_957+29del rs794726982
NM_000540.2(RYR1):c.9624G>T (p.Pro3208=) rs552470353
NM_000540.2(RYR1):c.9685+16C>T rs45496799
NM_000540.2(RYR1):c.9713A>G (p.Glu3238Gly) rs200950673
NM_000540.2(RYR1):c.9723C>T (p.Pro3241=) rs199828145
NM_001042723.2(RYR1):c.1087C>T (p.Pro363Ser) rs367995800
NM_001042723.2(RYR1):c.14465T>A (p.Ile4822Asn) rs727504132

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