ClinVar Miner

List of variants in gene RYR1 reported as likely pathogenic by PreventionGenetics

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Total variants: 62
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HGVS dbSNP
NM_000540.2(RYR1):c.10347+1G>A rs111436401
NM_000540.2(RYR1):c.10501dup (p.Asp3501fs) rs1568537774
NM_000540.2(RYR1):c.10627-1G>C rs1568539909
NM_000540.2(RYR1):c.11314C>T (p.Arg3772Trp) rs763112609
NM_000540.2(RYR1):c.11320del (p.Ala3774fs) rs768698639
NM_000540.2(RYR1):c.11360-1_11374delGGAGAGACAGGTGCCA rs1568549310
NM_000540.2(RYR1):c.11763C>A (p.Tyr3921Ter) rs377178986
NM_000540.2(RYR1):c.11929C>T (p.Gln3977Ter) rs1447117024
NM_000540.2(RYR1):c.11958C>G (p.Asp3986Glu) rs193922842
NM_000540.2(RYR1):c.12063_12064dup (p.Met4022fs) rs1419938249
NM_000540.2(RYR1):c.12113dup (p.Met4038fs) rs1568562752
NM_000540.2(RYR1):c.122T>C (p.Phe41Ser) rs766407858
NM_000540.2(RYR1):c.12499G>T (p.Glu4167Ter) rs772494345
NM_000540.2(RYR1):c.12624+1G>C
NM_000540.2(RYR1):c.12727G>A (p.Glu4243Lys) rs1555799628
NM_000540.2(RYR1):c.130C>T (p.Arg44Cys) rs193922748
NM_000540.2(RYR1):c.131G>A (p.Arg44His) rs139161723
NM_000540.2(RYR1):c.13260del (p.Asp4421fs) rs1568583900
NM_000540.2(RYR1):c.13836G>A (p.Trp4612Ter) rs1568593747
NM_000540.2(RYR1):c.13892A>G (p.Tyr4631Cys) rs1568593922
NM_000540.2(RYR1):c.14210G>A (p.Arg4737Gln) rs193922868
NM_000540.2(RYR1):c.14416A>G (p.Asn4806Asp) rs886039586
NM_000540.2(RYR1):c.14458G>A (p.Gly4820Arg)
NM_000540.2(RYR1):c.14545_14571dup (p.Val4849_Phe4857dup) rs1568605049
NM_000540.2(RYR1):c.14558C>T (p.Thr4853Ile) rs1555803922
NM_000540.2(RYR1):c.14659C>T (p.His4887Tyr) rs118192147
NM_000540.2(RYR1):c.14690G>A (p.Gly4897Asp)
NM_000540.2(RYR1):c.14761_14763TTC[3] (p.Phe4924del) rs1064794572
NM_000540.2(RYR1):c.14773_14778GTCATC[1] (p.4925_4926VI[1]) rs193922893
NM_000540.2(RYR1):c.14801A>G (p.Gln4934Arg) rs1568611775
NM_000540.2(RYR1):c.14807T>G (p.Leu4936Arg) rs1568613061
NM_000540.2(RYR1):c.14815G>A (p.Asp4939Asn) rs760010175
NM_000540.2(RYR1):c.14817C>G (p.Asp4939Glu)
NM_000540.2(RYR1):c.14822T>G (p.Phe4941Cys) rs1568613113
NM_000540.2(RYR1):c.14869-1G>T
NM_000540.2(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145
NM_000540.2(RYR1):c.1589G>A (p.Arg530His) rs111888148
NM_000540.2(RYR1):c.1598G>A (p.Arg533His) rs144336148
NM_000540.2(RYR1):c.178G>A (p.Asp60Asn) rs118192160
NM_000540.2(RYR1):c.1993del (p.Glu664_Val665insTer) rs1568451320
NM_000540.2(RYR1):c.2195del (p.Pro732fs) rs1568452917
NM_000540.2(RYR1):c.2989C>T (p.Arg997Ter)
NM_000540.2(RYR1):c.3046C>T (p.Arg1016Ter)
NM_000540.2(RYR1):c.3805del (p.Leu1269fs) rs1568469505
NM_000540.2(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266
NM_000540.2(RYR1):c.4707+1G>A rs1568480914
NM_000540.2(RYR1):c.4789C>T (p.Gln1597Ter) rs1568481364
NM_000540.2(RYR1):c.5183C>T (p.Ser1728Phe) rs193922781
NM_000540.2(RYR1):c.6127+1G>A rs1283302989
NM_000540.2(RYR1):c.6488G>C (p.Arg2163Pro) rs118192163
NM_000540.2(RYR1):c.6488G>T (p.Arg2163Leu)
NM_000540.2(RYR1):c.6599C>T (p.Ala2200Val) rs193922791
NM_000540.2(RYR1):c.6664-2A>G rs1346257891
NM_000540.2(RYR1):c.7099G>A (p.Ala2367Thr) rs146306934
NM_000540.2(RYR1):c.7373G>T (p.Arg2458Leu)
NM_000540.2(RYR1):c.7463_7475del (p.Pro2488fs) rs794727683
NM_000540.2(RYR1):c.7543C>T (p.Gln2515Ter) rs1568503046
NM_000540.2(RYR1):c.8018del (p.His2673fs) rs1568509739
NM_000540.2(RYR1):c.8693-1G>A rs1568514017
NM_000540.2(RYR1):c.9001-2A>G
NM_000540.2(RYR1):c.9310G>A (p.Glu3104Lys) rs193922832
NM_000540.2(RYR1):c.9605C>T (p.Pro3202Leu)

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