ClinVar Miner

List of variants in gene RYR1 reported as pathogenic by GeneDx

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Total variants: 36
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HGVS dbSNP
NM_000540.2(RYR1):c.10347+1G>A rs111436401
NM_000540.2(RYR1):c.11315G>A (p.Arg3772Gln) rs193922839
NM_000540.2(RYR1):c.11590+1G>T rs113928116
NM_000540.2(RYR1):c.12613G>T (p.Glu4205Ter) rs1361451153
NM_000540.2(RYR1):c.14129+1G>A rs142929172
NM_000540.2(RYR1):c.14210G>A (p.Arg4737Gln) rs193922868
NM_000540.2(RYR1):c.1440+2T>G rs1555767403
NM_000540.2(RYR1):c.14416A>G (p.Asn4806Asp) rs886039586
NM_000540.2(RYR1):c.14495C>A (p.Thr4832Asn) rs1057520711
NM_000540.2(RYR1):c.14512-1G>A rs1064793932
NM_000540.2(RYR1):c.14545G>A (p.Val4849Ile) rs118192168
NM_000540.2(RYR1):c.14552T>C (p.Leu4851Pro) rs1085307631
NM_000540.2(RYR1):c.14581C>T (p.Arg4861Cys) rs118192181
NM_000540.2(RYR1):c.14582G>A (p.Arg4861His) rs63749869
NM_000540.2(RYR1):c.14645C>T rs193922884
NM_000540.2(RYR1):c.14678G>A (p.Arg4893Gln) rs118192151
NM_000540.2(RYR1):c.14761_14763TTC[3] (p.Phe4924del) rs1064794572
NM_000540.2(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158
NM_000540.2(RYR1):c.1739_1742dup (p.His581fs) rs193922771
NM_000540.2(RYR1):c.1840C>T (p.Arg614Cys) rs118192172
NM_000540.2(RYR1):c.2583_2586delinsGCT (p.Pro863fs) rs1555772199
NM_000540.2(RYR1):c.3801dup (p.Cys1268fs) rs587784374
NM_000540.2(RYR1):c.4485_4500del (p.Val1494_Trp1495insTer) rs886041511
NM_000540.2(RYR1):c.4672C>T (p.Gln1558Ter) rs1064793717
NM_000540.2(RYR1):c.487C>T (p.Arg163Cys) rs118192161
NM_000540.2(RYR1):c.5340_5341del (p.Cys1781fs) rs779723153
NM_000540.2(RYR1):c.6232G>T (p.Glu2078Ter) rs1131691626
NM_000540.2(RYR1):c.6487C>T (p.Arg2163Cys) rs118192175
NM_000540.2(RYR1):c.6617C>T (p.Thr2206Met) rs118192177
NM_000540.2(RYR1):c.6721C>T rs200563280
NM_000540.2(RYR1):c.6806dup (p.Ser2270fs) rs886041380
NM_000540.2(RYR1):c.7063C>T (p.Arg2355Trp) rs193922803
NM_000540.2(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593
NM_000540.2(RYR1):c.7354C>T (p.Arg2452Trp) rs118192124
NM_000540.2(RYR1):c.742G>C (p.Gly248Arg) rs1801086
NM_000540.2(RYR1):c.9847C>T (p.Arg3283Ter) rs752199191

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