ClinVar Miner

List of variants in gene RYR2 reported as likely pathogenic

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Total variants: 108
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HGVS dbSNP
NM_001035.2(RYR2):c.(?_169)_(273_?)del (p.(?))
NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu) rs786205455
NM_001035.3(RYR2):c.1066T>G (p.Tyr356Asp) rs794728718
NM_001035.3(RYR2):c.11570A>G (p.Tyr3857Cys) rs587782975
NM_001035.3(RYR2):c.11588G>A (p.Gly3863Asp) rs794728775
NM_001035.3(RYR2):c.11623G>A (p.Val3875Ile) rs1060500137
NM_001035.3(RYR2):c.11788G>C (p.Gly3930Arg)
NM_001035.3(RYR2):c.11863C>G (p.Gln3955Glu) rs1558393802
NM_001035.3(RYR2):c.11914A>G (p.Met3972Val) rs1085307997
NM_001035.3(RYR2):c.11934G>A (p.Met3978Ile) rs794728826
NM_001035.3(RYR2):c.11959G>A (p.Glu3987Lys) rs794728778
NM_001035.3(RYR2):c.1198G>A (p.Asp400Asn) rs1553454821
NM_001035.3(RYR2):c.11995A>G (p.Met3999Val) rs794728780
NM_001035.3(RYR2):c.11996T>C (p.Met3999Thr) rs1553322494
NM_001035.3(RYR2):c.12002A>G (p.Asp4001Gly) rs1064793256
NM_001035.3(RYR2):c.12268C>T (p.Pro4090Ser) rs794728782
NM_001035.3(RYR2):c.12283G>A (p.Gly4095Ser) rs753850982
NM_001035.3(RYR2):c.12298G>A (p.Val4100Ile) rs758785338
NM_001035.3(RYR2):c.12301C>T (p.Leu4101Phe) rs794728785
NM_001035.3(RYR2):c.12325A>G (p.Met4109Val) rs730880196
NM_001035.3(RYR2):c.12326T>C (p.Met4109Thr) rs1373714510
NM_001035.3(RYR2):c.1250G>T (p.Arg417Leu) rs751428303
NM_001035.3(RYR2):c.12526G>A (p.Val4176Met) rs794728828
NM_001035.3(RYR2):c.12533A>G (p.Asn4178Ser) rs794728787
NM_001035.3(RYR2):c.12539G>T (p.Gly4180Val) rs1558405816
NM_001035.3(RYR2):c.12544G>C (p.Glu4182Gln) rs397516508
NM_001035.3(RYR2):c.12545A>C (p.Glu4182Ala) rs794728788
NM_001035.3(RYR2):c.12550_12552del (p.Glu4184del) rs1558405887
NM_001035.3(RYR2):c.12569T>G (p.Val4190Gly) rs1064794753
NM_001035.3(RYR2):c.12583G>A (p.Asp4195Asn) rs794728791
NM_001035.3(RYR2):c.12589A>C (p.Ile4197Leu)
NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln) rs794728721
NM_001035.3(RYR2):c.13489C>T (p.Arg4497Cys) rs121918600
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.13737C>A (p.His4579Gln) rs886037907
NM_001035.3(RYR2):c.13748C>A (p.Ser4583Tyr) rs886039458
NM_001035.3(RYR2):c.13763T>C (p.Ile4588Thr) rs876661386
NM_001035.3(RYR2):c.13822C>T (p.Arg4608Trp) rs794728799
NM_001035.3(RYR2):c.13957G>T (p.Val4653Phe) rs121918604
NM_001035.3(RYR2):c.14159T>C (p.Leu4720Pro) rs794728801
NM_001035.3(RYR2):c.14173T>A (p.Tyr4725Asn) rs876661387
NM_001035.3(RYR2):c.14251A>C (p.Lys4751Gln) rs794728802
NM_001035.3(RYR2):c.14251A>G (p.Lys4751Glu) rs794728802
NM_001035.3(RYR2):c.14278G>A (p.Val4760Ile) rs794728831
NM_001035.3(RYR2):c.14288A>G (p.Asn4763Ser) rs794728803
NM_001035.3(RYR2):c.14311G>A (p.Val4771Ile) rs794728804
NM_001035.3(RYR2):c.14314G>A (p.Gly4772Ser) rs193922622
NM_001035.3(RYR2):c.14341T>C (p.Tyr4781His) rs1553335836
NM_001035.3(RYR2):c.14565T>G (p.Ile4855Met) rs730880199
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.14623G>C (p.Asp4875His) rs794728806
NM_001035.3(RYR2):c.14635C>A (p.Gln4879Lys) rs730880200
NM_001035.3(RYR2):c.14695G>A (p.Asp4899Asn) rs794728807
NM_001035.3(RYR2):c.14726C>T (p.Thr4909Ile) rs730880201
NM_001035.3(RYR2):c.14804G>C (p.Gly4935Ala) rs794728809
NM_001035.3(RYR2):c.14845T>C (p.Trp4949Arg) rs794728810
NM_001035.3(RYR2):c.14849A>G (p.Glu4950Gly) rs1057517873
NM_001035.3(RYR2):c.14864G>A (p.Gly4955Glu) rs1553343100
NM_001035.3(RYR2):c.14869T>A (p.Cys4957Ser) rs758500988
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_001035.3(RYR2):c.14884T>A (p.Tyr4962Asn) rs748937501
NM_001035.3(RYR2):c.14885A>G (p.Tyr4962Cys) rs794728832
NM_001035.3(RYR2):c.1847C>T (p.Ser616Leu) rs730880187
NM_001035.3(RYR2):c.218T>G (p.Leu73Arg) rs794728705
NM_001035.3(RYR2):c.2236C>T (p.Gln746Ter) rs863223354
NM_001035.3(RYR2):c.2238A>C (p.Gln746His) rs863223355
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn) rs193922623
NM_001035.3(RYR2):c.3271G>A (p.Glu1091Lys) rs730880191
NM_001035.3(RYR2):c.344A>G (p.Tyr115Cys) rs1558698334
NM_001035.3(RYR2):c.365G>A (p.Arg122His) rs727503396
NM_001035.3(RYR2):c.4040T>G (p.Met1347Arg) rs193922625
NM_001035.3(RYR2):c.4069G>C (p.Asp1357His) rs193922626
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676
NM_001035.3(RYR2):c.499A>G (p.Lys167Glu) rs794728707
NM_001035.3(RYR2):c.502C>G (p.Gln168Glu) rs1085308008
NM_001035.3(RYR2):c.506G>A (p.Arg169Gln) rs397516539
NM_001035.3(RYR2):c.512_514del (p.Glu171del) rs794728812
NM_001035.3(RYR2):c.515G>A (p.Gly172Glu) rs1553426678
NM_001035.3(RYR2):c.527G>T (p.Arg176Leu) rs794728708
NM_001035.3(RYR2):c.567A>T (p.Glu189Asp) rs1415931588
NM_001035.3(RYR2):c.6412G>A (p.Glu2138Lys) rs1553531703
NM_001035.3(RYR2):c.6598C>T (p.Leu2200Phe) rs794728743
NM_001035.3(RYR2):c.659G>A (p.Gly220Glu) rs786205454
NM_001035.3(RYR2):c.6646G>C (p.Asp2216His) rs1558103974
NM_001035.3(RYR2):c.6683G>T (p.Gly2228Val) rs794728744
NM_001035.3(RYR2):c.6829T>C (p.Cys2277Arg) rs794727676
NM_001035.3(RYR2):c.6883G>A (p.Gly2295Arg) rs794728745
NM_001035.3(RYR2):c.6940G>A (p.Glu2314Lys) rs794728748
NM_001035.3(RYR2):c.6940_6942delinsAAA (p.Glu2314Lys) rs1553263732
NM_001035.3(RYR2):c.6950C>A (p.Ala2317Glu) rs794728750
NM_001035.3(RYR2):c.6957_6959del (p.Val2321del) rs794728834
NM_001035.3(RYR2):c.7009G>C (p.Gly2337Arg) rs1553263875
NM_001035.3(RYR2):c.7024G>A (p.Gly2342Arg) rs1553263907
NM_001035.3(RYR2):c.7025G>A (p.Gly2342Glu) rs794728751
NM_001035.3(RYR2):c.704G>A (p.Arg235Lys) rs794728711
NM_001035.3(RYR2):c.7159G>A (p.Ala2387Thr) rs794728753
NM_001035.3(RYR2):c.7160C>T (p.Ala2387Val) rs794728754
NM_001035.3(RYR2):c.719A>C (p.His240Pro) rs369512347
NM_001035.3(RYR2):c.7202G>A (p.Arg2401His) rs794728756
NM_001035.3(RYR2):c.7256T>G (p.Ile2419Ser)
NM_001035.3(RYR2):c.7385C>T (p.Pro2462Leu) rs794728757
NM_001035.3(RYR2):c.790G>C (p.Gly264Arg) rs794728713
NM_001035.3(RYR2):c.818C>T (p.Ser273Phe) rs794728715
NM_001035.3(RYR2):c.854G>T (p.Ser285Ile)
NM_001035.3(RYR2):c.9019C>T (p.Leu3007=) rs1553283030
NM_001035.3(RYR2):c.9688C>A (p.Gln3230Lys) rs886037908

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