ClinVar Miner

List of variants in gene RYR2 reported as uncertain significance by Ambry Genetics

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Total variants: 102
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HGVS dbSNP
NM_001035.2(RYR2):c.10230T>C (p.His3410=) rs370078129
NM_001035.2(RYR2):c.10381A>G (p.Met3461Val) rs147512481
NM_001035.2(RYR2):c.10640C>T (p.Thr3547Met) rs552050895
NM_001035.2(RYR2):c.10648A>G (p.Arg3550Gly) rs1553300589
NM_001035.2(RYR2):c.10680T>A (p.His3560Gln) rs727503404
NM_001035.2(RYR2):c.10700G>A (p.Arg3567His) rs577371071
NM_001035.2(RYR2):c.10897G>A (p.Glu3633Lys) rs748501600
NM_001035.2(RYR2):c.10973C>G (p.Thr3658Ser) rs766499417
NM_001035.2(RYR2):c.10975A>G (p.Lys3659Glu) rs184527312
NM_001035.2(RYR2):c.11150A>G (p.Lys3717Arg) rs1060500141
NM_001035.2(RYR2):c.11152G>A (p.Glu3718Lys) rs886039201
NM_001035.2(RYR2):c.11217G>A (p.Met3739Ile) rs397516502
NM_001035.2(RYR2):c.11270C>A (p.Ala3757Asp) rs765833382
NM_001035.2(RYR2):c.11522G>A (p.Arg3841Gln) rs1553317322
NM_001035.2(RYR2):c.11587G>A (p.Gly3863Ser) rs886039194
NM_001035.2(RYR2):c.11605A>G (p.Asn3869Asp) rs886039074
NM_001035.2(RYR2):c.11974A>C (p.Asn3992His) rs781352451
NM_001035.2(RYR2):c.12056T>C (p.Met4019Thr) rs886039150
NM_001035.2(RYR2):c.1240C>T (p.Arg414Cys) rs764698152
NM_001035.2(RYR2):c.12437A>G (p.Glu4146Gly) rs1553322833
NM_001035.2(RYR2):c.12685C>T (p.Gln4229Ter) rs1553323067
NM_001035.2(RYR2):c.12700G>A (p.Ala4234Thr) rs773317989
NM_001035.2(RYR2):c.12919C>T (p.Arg4307Cys) rs200092869
NM_001035.2(RYR2):c.13220G>A (p.Ser4407Asn) rs755585430
NM_001035.2(RYR2):c.13291G>A (p.Glu4431Lys) rs571985775
NM_001035.2(RYR2):c.13370A>G (p.Lys4457Arg) rs747584325
NM_001035.2(RYR2):c.13576_13578delTCT (p.Ser4526del) rs749495172
NM_001035.2(RYR2):c.13617T>G (p.Ser4539Arg) rs1553327067
NM_001035.2(RYR2):c.13672C>T (p.His4558Tyr) rs773264033
NM_001035.2(RYR2):c.13984G>A (p.Gly4662Ser) rs886039213
NM_001035.2(RYR2):c.14014A>G (p.Met4672Val) rs1423265074
NM_001035.2(RYR2):c.14151+1G>A rs745576995
NM_001035.2(RYR2):c.14637A>C (p.Gln4879His) rs1553341953
NM_001035.2(RYR2):c.14711G>A (p.Gly4904Asp) rs886038888
NM_001035.2(RYR2):c.1476+4C>T rs369442980
NM_001035.2(RYR2):c.147G>C (p.Leu49Phe) rs727504508
NM_001035.2(RYR2):c.14848G>C (p.Glu4950Gln) rs886039172
NM_001035.2(RYR2):c.175C>T (p.Pro59Ser) rs1553405121
NM_001035.2(RYR2):c.1939C>T (p.Arg647Cys) rs202040519
NM_001035.2(RYR2):c.1973A>G (p.Asn658Ser) rs2009813
NM_001035.2(RYR2):c.2267G>A (p.Ser756Asn) rs193922623
NM_001035.2(RYR2):c.2300C>T (p.Ser767Leu) rs749979131
NM_001035.2(RYR2):c.2402G>T (p.Arg801Leu) rs371157868
NM_001035.2(RYR2):c.2629C>T (p.His877Tyr) rs372575878
NM_001035.2(RYR2):c.2711A>G (p.Tyr904Cys) rs201131315
NM_001035.2(RYR2):c.2935G>T (p.Ala979Ser) rs202015519
NM_001035.2(RYR2):c.295-5T>C rs1553420541
NM_001035.2(RYR2):c.32T>C (p.Ile11Thr) rs794728760
NM_001035.2(RYR2):c.3320C>T (p.Thr1107Met) rs200236750
NM_001035.2(RYR2):c.365G>A (p.Arg122His) rs727503396
NM_001035.2(RYR2):c.37T>C (p.Phe13Leu) rs794728761
NM_001035.2(RYR2):c.3823G>A (p.Gly1275Ser) rs769294223
NM_001035.2(RYR2):c.383T>C (p.Met128Thr) rs886038887
NM_001035.2(RYR2):c.3894T>G (p.Asp1298Glu) rs1383564773
NM_001035.2(RYR2):c.4273A>G (p.Thr1425Ala) rs776046135
NM_001035.2(RYR2):c.4444C>T (p.Arg1482Cys) rs564869863
NM_001035.2(RYR2):c.4489G>A (p.Gly1497Arg) rs748678280
NM_001035.2(RYR2):c.4507A>G (p.Asn1503Asp) rs794728736
NM_001035.2(RYR2):c.485_489dup (p.Pro164Tyrfs) rs1553426652
NM_001035.2(RYR2):c.4912T>A (p.Ser1638Thr) rs794728739
NM_001035.2(RYR2):c.5011C>T (p.Arg1671Trp) rs747404408
NM_001035.2(RYR2):c.5294C>G (p.Ser1765Cys) rs564806219
NM_001035.2(RYR2):c.5524A>T (p.Ile1842Phe) rs1553522483
NM_001035.2(RYR2):c.5570C>T (p.Pro1857Leu) rs568198475
NM_001035.2(RYR2):c.5588C>T (p.Thr1863Met) rs770863319
NM_001035.2(RYR2):c.5933A>G (p.Asn1978Ser) rs773006920
NM_001035.2(RYR2):c.5977C>T (p.Arg1993Cys) rs767406030
NM_001035.2(RYR2):c.6022+5G>A rs376389213
NM_001035.2(RYR2):c.6250A>G (p.Met2084Val) rs1553531464
NM_001035.2(RYR2):c.6280G>A (p.Gly2094Ser) rs777365708
NM_001035.2(RYR2):c.640G>A (p.Val214Met) rs1036926941
NM_001035.2(RYR2):c.649A>G (p.Ile217Val) rs200642525
NM_001035.2(RYR2):c.6530A>T (p.Asn2177Ile) rs1553534276
NM_001035.2(RYR2):c.6531C>G (p.Asn2177Lys) rs757298566
NM_001035.2(RYR2):c.6811G>A (p.Gly2271Ser) rs375371340
NM_001035.2(RYR2):c.7015G>A (p.Gly2339Ser) rs900562086
NM_001035.2(RYR2):c.7099G>A (p.Gly2367Arg) rs369152386
NM_001035.2(RYR2):c.727G>A (p.Glu243Lys) rs794728712
NM_001035.2(RYR2):c.7354G>A (p.Val2452Met) rs377136047
NM_001035.2(RYR2):c.7619A>G (p.His2540Arg) rs200105499
NM_001035.2(RYR2):c.7868T>C (p.Leu2623Pro) rs1553269568
NM_001035.2(RYR2):c.7925G>A (p.Arg2642Lys) rs377473366
NM_001035.2(RYR2):c.8131A>G (p.Ile2711Val) rs1465720686
NM_001035.2(RYR2):c.8145G>T (p.Glu2715Asp) rs200420897
NM_001035.2(RYR2):c.815G>T (p.Arg272Leu) rs377368967
NM_001035.2(RYR2):c.8209-3A>G rs376788358
NM_001035.2(RYR2):c.8209-4T>C rs371966353
NM_001035.2(RYR2):c.8262G>T (p.Gln2754His) rs773748242
NM_001035.2(RYR2):c.8590+4A>G rs778964264
NM_001035.2(RYR2):c.8731G>A (p.Glu2911Lys) rs1553277510
NM_001035.2(RYR2):c.8899G>A (p.Val2967Ile) rs751546090
NM_001035.2(RYR2):c.9128+5delA rs1553289116
NM_001035.2(RYR2):c.9251G>A (p.Arg3084Gln) rs747605864
NM_001035.2(RYR2):c.9450-3T>C rs188671846
NM_001035.2(RYR2):c.950T>C (p.Met317Thr) rs367601258
NM_001035.2(RYR2):c.9518C>T (p.Thr3173Ile) rs746161154
NM_001035.2(RYR2):c.9619A>G (p.Asn3207Asp) rs372601642
NM_001035.2(RYR2):c.9673G>A (p.Gly3225Ser) rs780484631
NM_001035.2(RYR2):c.9698A>G (p.His3233Arg) rs1386204884
NM_001035.2(RYR2):c.9721A>G (p.Met3241Val) rs1408171604
NM_001035.2(RYR2):c.9742C>T (p.Arg3248Cys) rs1290534109
NM_001035.2(RYR2):c.9750G>T (p.Trp3250Cys) rs775355706

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