ClinVar Miner

List of variants in gene RYR2 reported as likely pathogenic for ventricular tachycardia

Included ClinVar conditions (38):
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Gene type:
ClinVar version:
Total variants: 133
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.1249C>G (p.Arg417Gly) rs564822776 0.00004
NM_001035.3(RYR2):c.7201C>T (p.Arg2401Cys) rs1321283106 0.00004
NM_001035.3(RYR2):c.8018C>T (p.Ala2673Val) rs869025513 0.00002
NM_001035.3(RYR2):c.12334G>A (p.Asp4112Asn) rs1695348814 0.00001
NM_001035.3(RYR2):c.14884T>A (p.Tyr4962Asn) rs748937501 0.00001
NM_001035.3(RYR2):c.3271G>A (p.Glu1091Lys) rs730880191 0.00001
NM_001035.3(RYR2):c.365G>A (p.Arg122His) rs727503396 0.00001
NM_001035.3(RYR2):c.9742C>T (p.Arg3248Cys) rs1290534109 0.00001
NM_001035.3(RYR2):c.9872A>T (p.Asp3291Val) rs1209752961 0.00001
NC_000001.10:g.(?_237205802)_(237519305_?)dup
NC_000001.10:g.(?_237205822)_(237519305_?)dup
NC_000001.10:g.(?_237433777)_(237433936_?)dup
NM_001035.2(RYR2):c.(?_169)_(273_?)del
NM_001035.3(RYR2):c.10209dup (p.Ile3404fs) rs1688657241
NM_001035.3(RYR2):c.1031_1035del (p.Lys344fs) rs2150146622
NM_001035.3(RYR2):c.1070G>A (p.Gly357Asp)
NM_001035.3(RYR2):c.10835C>T (p.Pro3612Leu)
NM_001035.3(RYR2):c.11200C>T (p.Arg3734Cys) rs1060500150
NM_001035.3(RYR2):c.11217G>A (p.Met3739Ile) rs397516502
NM_001035.3(RYR2):c.11321A>G (p.Gln3774Arg) rs2149266454
NM_001035.3(RYR2):c.11380_11388del (p.Ala3794_Leu3796del) rs1693267402
NM_001035.3(RYR2):c.11398T>A (p.Cys3800Ser) rs397516504
NM_001035.3(RYR2):c.11398T>C (p.Cys3800Arg) rs397516504
NM_001035.3(RYR2):c.11444A>G (p.Glu3815Gly) rs2149277178
NM_001035.3(RYR2):c.11570A>G (p.Tyr3857Cys) rs587782975
NM_001035.3(RYR2):c.11579C>T (p.Thr3860Ile) rs1694311922
NM_001035.3(RYR2):c.11590A>G (p.Asn3864Asp) rs1573887621
NM_001035.3(RYR2):c.11621C>T (p.Thr3874Ile) rs2149314726
NM_001035.3(RYR2):c.11623G>T (p.Val3875Leu) rs1060500137
NM_001035.3(RYR2):c.11624T>C (p.Val3875Ala) rs1558381851
NM_001035.3(RYR2):c.1172C>A (p.Ala391Asp) rs374306538
NM_001035.3(RYR2):c.11788G>C (p.Gly3930Arg) rs1573911397
NM_001035.3(RYR2):c.11805G>C (p.Leu3935Phe)
NM_001035.3(RYR2):c.11812A>C (p.Ser3938Arg) rs794728825
NM_001035.3(RYR2):c.11821T>C (p.Trp3941Arg)
NM_001035.3(RYR2):c.11836G>C (p.Gly3946Arg) rs794728777
NM_001035.3(RYR2):c.11863C>A (p.Gln3955Lys)
NM_001035.3(RYR2):c.11863C>G (p.Gln3955Glu) rs1558393802
NM_001035.3(RYR2):c.11865G>C (p.Gln3955His) rs1573911593
NM_001035.3(RYR2):c.11914A>G (p.Met3972Val) rs1085307997
NM_001035.3(RYR2):c.11965A>G (p.Asn3989Asp) rs794728779
NM_001035.3(RYR2):c.11996T>C (p.Met3999Thr) rs1553322494
NM_001035.3(RYR2):c.1199A>G (p.Asp400Gly)
NM_001035.3(RYR2):c.12006G>A (p.Met4002Ile) rs1695315646
NM_001035.3(RYR2):c.12259T>C (p.Phe4087Leu)
NM_001035.3(RYR2):c.12268C>G (p.Pro4090Ala)
NM_001035.3(RYR2):c.12268C>T (p.Pro4090Ser) rs794728782
NM_001035.3(RYR2):c.12272C>G (p.Ala4091Gly)
NM_001035.3(RYR2):c.12301C>T (p.Leu4101Phe) rs794728785
NM_001035.3(RYR2):c.12313C>T (p.Leu4105Phe)
NM_001035.3(RYR2):c.12325A>G (p.Met4109Val) rs730880196
NM_001035.3(RYR2):c.12343C>T (p.Leu4115Phe) rs1695349832
NM_001035.3(RYR2):c.1244C>A (p.Thr415Lys) rs1288202574
NM_001035.3(RYR2):c.1244C>T (p.Thr415Ile)
NM_001035.3(RYR2):c.13528G>A (p.Ala4510Thr) rs397516510
NM_001035.3(RYR2):c.13528G>T (p.Ala4510Ser) rs397516510
NM_001035.3(RYR2):c.13529C>T (p.Ala4510Val) rs1658373672
NM_001035.3(RYR2):c.13735C>T (p.His4579Tyr) rs794728830
NM_001035.3(RYR2):c.13737C>A (p.His4579Gln) rs886037907
NM_001035.3(RYR2):c.13778T>C (p.Leu4593Ser) rs1558424746
NM_001035.3(RYR2):c.13798T>A (p.Phe4600Ile)
NM_001035.3(RYR2):c.13822C>T (p.Arg4608Trp) rs794728799
NM_001035.3(RYR2):c.13823G>A (p.Arg4608Gln) rs1553328170
NM_001035.3(RYR2):c.13904T>A (p.Ile4635Asn) rs1060500169
NM_001035.3(RYR2):c.13938C>A (p.Asp4646Glu)
NM_001035.3(RYR2):c.13957G>T (p.Val4653Phe) rs121918604
NM_001035.3(RYR2):c.139T>C (p.Cys47Arg)
NM_001035.3(RYR2):c.14079_14081del (p.Leu4694del) rs1573997412
NM_001035.3(RYR2):c.14159T>C (p.Leu4720Pro) rs794728801
NM_001035.3(RYR2):c.14161T>C (p.Tyr4721His) rs1660612706
NM_001035.3(RYR2):c.14174A>G (p.Tyr4725Cys) rs2149437479
NM_001035.3(RYR2):c.14226C>A (p.His4742Gln) rs2149437622
NM_001035.3(RYR2):c.14233G>A (p.Asp4745Asn) rs1660618055
NM_001035.3(RYR2):c.14234A>G (p.Asp4745Gly) rs2149437640
NM_001035.3(RYR2):c.14252A>T (p.Lys4751Met) rs2149437719
NM_001035.3(RYR2):c.14297A>C (p.Gln4766Pro)
NM_001035.3(RYR2):c.14308A>G (p.Thr4770Ala)
NM_001035.3(RYR2):c.14311G>T (p.Val4771Phe)
NM_001035.3(RYR2):c.14368C>T (p.Arg4790Ter) rs1660964820
NM_001035.3(RYR2):c.14482G>A (p.Gly4828Arg) rs1402571360
NM_001035.3(RYR2):c.14542A>G (p.Ile4848Val) rs1363298408
NM_001035.3(RYR2):c.14585T>C (p.Ile4862Thr) rs1553339084
NM_001035.3(RYR2):c.14600T>C (p.Ile4867Thr) rs1064796516
NM_001035.3(RYR2):c.14651_14652insTCC (p.Met4884delinsIlePro) rs1663402590
NM_001035.3(RYR2):c.14683A>C (p.Asn4895His) rs1185619003
NM_001035.3(RYR2):c.14726C>T (p.Thr4909Ile) rs730880201
NM_001035.3(RYR2):c.14737C>T (p.His4913Tyr) rs2102947618
NM_001035.3(RYR2):c.14769G>T (p.Met4923Ile) rs1663792524
NM_001035.3(RYR2):c.14777T>C (p.Ile4926Thr) rs1663793007
NM_001035.3(RYR2):c.14807A>G (p.Gln4936Arg)
NM_001035.3(RYR2):c.14845T>C (p.Trp4949Arg) rs794728810
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_001035.3(RYR2):c.1646C>T (p.Ala549Val) rs794728817
NM_001035.3(RYR2):c.1847C>T (p.Ser616Leu) rs730880187
NM_001035.3(RYR2):c.344A>G (p.Tyr115Cys) rs1558698334
NM_001035.3(RYR2):c.37T>C (p.Phe13Leu) rs794728761
NM_001035.3(RYR2):c.41T>C (p.Leu14Pro) rs886043844
NM_001035.3(RYR2):c.44G>C (p.Arg15Pro) rs865784613
NM_001035.3(RYR2):c.506G>A (p.Arg169Gln) rs397516539
NM_001035.3(RYR2):c.515G>A (p.Gly172Glu) rs1553426678
NM_001035.3(RYR2):c.537T>A (p.Asp179Glu) rs1362710187
NM_001035.3(RYR2):c.6412G>A (p.Glu2138Lys) rs1553531703
NM_001035.3(RYR2):c.6532G>A (p.Val2178Ile) rs794728821
NM_001035.3(RYR2):c.6585C>G (p.Asn2195Lys) rs2148700748
NM_001035.3(RYR2):c.6647A>G (p.Asp2216Gly) rs1328318082
NM_001035.3(RYR2):c.6649C>T (p.His2217Tyr) rs1372052481
NM_001035.3(RYR2):c.6686T>C (p.Leu2229Pro) rs1680574380
NM_001035.3(RYR2):c.6749A>T (p.Asn2250Ile) rs2148707460
NM_001035.3(RYR2):c.677G>A (p.Gly226Glu) rs1702087452
NM_001035.3(RYR2):c.6873C>A (p.Asn2291Lys)
NM_001035.3(RYR2):c.6893A>G (p.Tyr2298Cys)
NM_001035.3(RYR2):c.6898G>C (p.Asp2300His)
NM_001035.3(RYR2):c.6899A>G (p.Asp2300Gly) rs1681104142
NM_001035.3(RYR2):c.6916G>T (p.Val2306Phe)
NM_001035.3(RYR2):c.6957_6959del (p.Val2321del) rs794728834
NM_001035.3(RYR2):c.6983C>T (p.Pro2328Leu) rs727503401
NM_001035.3(RYR2):c.7009G>A (p.Gly2337Arg) rs1553263875
NM_001035.3(RYR2):c.7009G>C (p.Gly2337Arg) rs1553263875
NM_001035.3(RYR2):c.7010G>A (p.Gly2337Glu)
NM_001035.3(RYR2):c.7159G>A (p.Ala2387Thr) rs794728753
NM_001035.3(RYR2):c.7169C>T (p.Thr2390Ile)
NM_001035.3(RYR2):c.7175A>T (p.Tyr2392Phe)
NM_001035.3(RYR2):c.7202G>A (p.Arg2401His) rs794728756
NM_001035.3(RYR2):c.7202G>T (p.Arg2401Leu) rs794728756
NM_001035.3(RYR2):c.7210C>T (p.Pro2404Ser)
NM_001035.3(RYR2):c.7256T>C (p.Ile2419Thr)
NM_001035.3(RYR2):c.7256T>G (p.Ile2419Ser) rs1573300872
NM_001035.3(RYR2):c.7420A>G (p.Arg2474Gly)
NM_001035.3(RYR2):c.7424T>C (p.Val2475Ala) rs1682400034
NM_001035.3(RYR2):c.854G>T (p.Ser285Ile) rs1342435908
NM_001035.3(RYR2):c.8659dup (p.Glu2887fs) rs1685193967
NM_001035.3(RYR2):c.94C>A (p.Gln32Lys) rs1553373926
NM_001035.3(RYR2):c.9688C>A (p.Gln3230Lys) rs886037908

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