ClinVar Miner

List of variants in gene RYR1 reported as pathogenic by GeneReviews

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Total variants: 61
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HGVS dbSNP
NM_000540.2(RYR1):c.10100A>G (p.Lys3367Arg) rs118192126
NM_000540.2(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058
NM_000540.2(RYR1):c.10817T>C (p.Leu3606Pro) rs118192127
NM_000540.2(RYR1):c.1205T>C (p.Met402Thr) rs118192117
NM_000540.2(RYR1):c.1209C>G (p.Ile403Met) rs118192116
NM_000540.2(RYR1):c.1280C>T (p.Ser427Leu) rs118192118
NM_000540.2(RYR1):c.12986C>A (p.Ala4329Asp) rs118192129
NM_000540.2(RYR1):c.13480G>T (p.Glu4494Ter) rs143849895
NM_000540.2(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130
NM_000540.2(RYR1):c.13703T>C (p.Leu4568Pro) rs118192131
NM_000540.2(RYR1):c.13891T>A (p.Tyr4631Asn) rs118192132
NM_000540.2(RYR1):c.13900G>A (p.Glu4634Lys) rs118192133
NM_000540.2(RYR1):c.13910C>T (p.Thr4637Ile) rs118192134
NM_000540.2(RYR1):c.13912G>A (p.Gly4638Ser) rs118192136
NM_000540.2(RYR1):c.13913G>A (p.Gly4638Asp) rs118192135
NM_000540.2(RYR1):c.13949T>C (p.Leu4650Pro) rs118192138
NM_000540.2(RYR1):c.13952A>C (p.His4651Pro) rs118192139
NM_000540.2(RYR1):c.14126C>T (p.Thr4709Met) rs118192140
NM_000540.2(RYR1):c.14170A>C (p.Lys4724Gln) rs118192141
NM_000540.2(RYR1):c.14378T>C (p.Leu4793Pro) rs118192179
NM_000540.2(RYR1):c.14387A>G (p.Tyr4796Cys) rs118192167
NM_000540.2(RYR1):c.14440C>T (p.Leu4814Phe) rs118192142
NM_000540.2(RYR1):c.14473C>T (p.Arg4825Cys) rs118192180
NM_000540.2(RYR1):c.14537C>T (p.Ala4846Val) rs118192143
NM_000540.2(RYR1):c.14572A>G (p.Asn4858Asp) rs118192144
NM_000540.2(RYR1):c.14581C>T (p.Arg4861Cys) rs118192181
NM_000540.2(RYR1):c.14591A>G (p.Tyr4864Cys) rs118192146
NM_000540.2(RYR1):c.14659C>T (p.His4887Tyr) rs118192147
NM_000540.2(RYR1):c.14671G>C (p.Gly4891Arg) rs118192149
NM_000540.2(RYR1):c.14677C>T (p.Arg4893Trp) rs118192150
NM_000540.2(RYR1):c.14678G>A (p.Arg4893Gln) rs118192151
NM_000540.2(RYR1):c.14678G>C (p.Arg4893Pro) rs118192151
NM_000540.2(RYR1):c.14690G>T (p.Gly4897Val) rs118192148
NM_000540.2(RYR1):c.14696G>A (p.Gly4899Glu) rs118192183
NM_000540.2(RYR1):c.14717C>T (p.Ala4906Val) rs118192153
NM_000540.2(RYR1):c.14740A>G (p.Arg4914Gly) rs118192184
NM_000540.2(RYR1):c.14741G>C (p.Arg4914Thr) rs118192154
NM_000540.2(RYR1):c.14759C>A (p.Thr4920Asn) rs118192155
NM_000540.2(RYR1):c.14762T>C (p.Phe4921Ser) rs118192156
NM_000540.2(RYR1):c.14773_14778GTCATC[1] (p.4925_4926VI[1]) rs193922893
NM_000540.2(RYR1):c.14814C>G (p.Ile4938Met) rs118192159
NM_000540.2(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158
NM_000540.2(RYR1):c.1534G>A (p.Glu512Lys) rs118192119
NM_000540.2(RYR1):c.178G>A (p.Asp60Asn) rs118192160
NM_000540.2(RYR1):c.212C>A (p.Ser71Tyr) rs118192113
NM_000540.2(RYR1):c.4729G>A (p.Ala1577Thr) rs118192120
NM_000540.2(RYR1):c.5333C>A (p.Ser1778Ter) rs367543055
NM_000540.2(RYR1):c.6104A>T (p.His2035Leu) rs367543056
NM_000540.2(RYR1):c.644G>A (p.Gly215Glu) rs118192115
NM_000540.2(RYR1):c.6487C>T (p.Arg2163Cys) rs118192175
NM_000540.2(RYR1):c.6488G>A (p.Arg2163His) rs118192163
NM_000540.2(RYR1):c.6847A>C (p.Asn2283His) rs118192121
NM_000540.2(RYR1):c.7354C>T (p.Arg2452Trp) rs118192124
NM_000540.2(RYR1):c.7358T>C (p.Ile2453Thr) rs118192123
NM_000540.2(RYR1):c.7361G>A (p.Arg2454His) rs118192122
NM_000540.2(RYR1):c.738T>G (p.Tyr246Ter) rs367543054
NM_000540.2(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_000540.2(RYR1):c.7635G>C (p.Glu2545Asp) rs193922820
NM_000540.2(RYR1):c.8816G>A (p.Arg2939Lys) rs118192125
NM_000540.2(RYR1):c.9000+1G>T rs111364670
NM_000540.2(RYR1):c.9978C>A (p.Asn3326Lys) rs367543057

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