ClinVar Miner

List of variants in gene RYR2 reported as likely pathogenic by GeneDx

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Total variants: 56
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HGVS dbSNP
NM_001035.3(RYR2):c.1066T>G (p.Tyr356Asp) rs794728718
NM_001035.3(RYR2):c.11588G>A (p.Gly3863Asp) rs794728775
NM_001035.3(RYR2):c.11914A>G (p.Met3972Val) rs1085307997
NM_001035.3(RYR2):c.11959G>A (p.Glu3987Lys) rs794728778
NM_001035.3(RYR2):c.11995A>G (p.Met3999Val) rs794728780
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.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.12544G>C (p.Glu4182Gln) rs397516508
NM_001035.3(RYR2):c.12545A>C (p.Glu4182Ala) rs794728788
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.13528G>T (p.Ala4510Ser) rs397516510
NM_001035.3(RYR2):c.13748C>A (p.Ser4583Tyr) rs886039458
NM_001035.3(RYR2):c.13822C>T (p.Arg4608Trp) rs794728799
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.14278G>A (p.Val4760Ile) rs794728831
NM_001035.3(RYR2):c.14341T>C (p.Tyr4781His) rs1553335836
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.14695G>A (p.Asp4899Asn) rs794728807
NM_001035.3(RYR2):c.14804G>C (p.Gly4935Ala) rs794728809
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.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.499A>G (p.Lys167Glu) rs794728707
NM_001035.3(RYR2):c.502C>G (p.Gln168Glu) rs1085308008
NM_001035.3(RYR2):c.512_514del (p.Glu171del) rs794728812
NM_001035.3(RYR2):c.527G>T (p.Arg176Leu) rs794728708
NM_001035.3(RYR2):c.6598C>T (p.Leu2200Phe) rs794728743
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.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.7385C>T (p.Pro2462Leu) rs794728757
NM_001035.3(RYR2):c.818C>T (p.Ser273Phe) rs794728715

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