ClinVar Miner

List of variants in gene RYR2 studied for Cardiomyopathy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 315
Download table as spreadsheet
HGVS dbSNP
NM_001035.2(RYR2):c.10047G>A (p.Ser3349=) rs144428932
NM_001035.2(RYR2):c.1006-12C>T rs367998175
NM_001035.2(RYR2):c.10096C>T (p.Leu3366Phe) rs377712921
NM_001035.2(RYR2):c.10155A>G (p.Leu3385=) rs543120030
NM_001035.2(RYR2):c.10221G>A (p.Ser3407=) rs373769240
NM_001035.2(RYR2):c.10231-4T>C rs117180147
NM_001035.2(RYR2):c.10231-5C>T rs186326951
NM_001035.2(RYR2):c.10254C>T (p.Asn3418=) rs138073811
NM_001035.2(RYR2):c.10324-4A>G rs72751287
NM_001035.2(RYR2):c.10373G>A (p.Arg3458Gln) rs762944627
NM_001035.2(RYR2):c.10452G>T (p.Gly3484=) rs199498105
NM_001035.2(RYR2):c.10503C>T (p.Thr3501=) rs2797441
NM_001035.2(RYR2):c.10528C>A (p.Arg3510Ser) rs201749277
NM_001035.2(RYR2):c.1053A>G (p.Thr351=) rs187565743
NM_001035.2(RYR2):c.10641G>A (p.Thr3547=) rs144256966
NM_001035.2(RYR2):c.10699C>T (p.Arg3567Cys) rs559154874
NM_001035.2(RYR2):c.10776C>T (p.Ser3592=) rs2685301
NM_001035.2(RYR2):c.10941T>G (p.Pro3647=) rs370332882
NM_001035.2(RYR2):c.10975A>G (p.Lys3659Glu) rs184527312
NM_001035.2(RYR2):c.1108C>T (p.Leu370=) rs534621173
NM_001035.2(RYR2):c.11092-10A>T rs577119352
NM_001035.2(RYR2):c.11092-6A>T rs397516501
NM_001035.2(RYR2):c.1110A>G (p.Leu370=) rs150705689
NM_001035.2(RYR2):c.11246-11delA rs397516503
NM_001035.2(RYR2):c.1134C>T (p.Asp378=) rs193922621
NM_001035.2(RYR2):c.1144G>A (p.Val382Met) rs370057029
NM_001035.2(RYR2):c.11496C>T (p.Asp3832=) rs397516505
NM_001035.2(RYR2):c.11497G>A (p.Asp3833Asn) rs768711283
NM_001035.2(RYR2):c.11552A>G (p.Asn3851Ser) rs967116157
NM_001035.2(RYR2):c.11835C>T (p.Val3945=) rs78939657
NM_001035.2(RYR2):c.11934G>A (p.Met3978Ile) rs794728826
NM_001035.2(RYR2):c.11963-11T>C rs790889
NM_001035.2(RYR2):c.11988C>T (p.Gly3996=) rs56226196
NM_001035.2(RYR2):c.12091A>G (p.Thr4031Ala) rs755148895
NM_001035.2(RYR2):c.12159G>A (p.Glu4053=) rs41267517
NM_001035.2(RYR2):c.12215C>T (p.Thr4072Met) rs928224285
NM_001035.2(RYR2):c.1243A>G (p.Thr415Ala) rs545357663
NM_001035.2(RYR2):c.12471A>G (p.Arg4157=) rs751897207
NM_001035.2(RYR2):c.12492G>A (p.Gln4164=) rs377293019
NM_001035.2(RYR2):c.12700G>A (p.Ala4234Thr) rs773317989
NM_001035.2(RYR2):c.12705C>T (p.Phe4235=) rs373606009
NM_001035.2(RYR2):c.12858C>T (p.Ser4286=) rs185482345
NM_001035.2(RYR2):c.12859T>C (p.Tyr4287His) rs190009333
NM_001035.2(RYR2):c.12919C>T (p.Arg4307Cys) rs200092869
NM_001035.2(RYR2):c.13130C>T (p.Ser4377Leu) rs869025514
NM_001035.2(RYR2):c.13137C>A (p.Ile4379=) rs369917806
NM_001035.2(RYR2):c.13220G>A (p.Ser4407Asn) rs755585430
NM_001035.2(RYR2):c.13260+14A>G rs141528541
NM_001035.2(RYR2):c.13291G>A (p.Glu4431Lys) rs571985775
NM_001035.2(RYR2):c.13326C>T (p.Ala4442=) rs768161152
NM_001035.2(RYR2):c.13329-3T>C rs542440592
NM_001035.2(RYR2):c.13528G>A (p.Ala4510Thr) rs397516510
NM_001035.2(RYR2):c.1354G>A (p.Val452Ile) rs375218751
NM_001035.2(RYR2):c.13566C>T (p.Val4522=) rs57360419
NM_001035.2(RYR2):c.1359C>T (p.Ser453=) rs3765097
NM_001035.2(RYR2):c.13635A>T (p.Thr4545=) rs779762647
NM_001035.2(RYR2):c.13656T>C (p.His4552=) rs397516512
NM_001035.2(RYR2):c.13740G>A (p.Thr4580=) rs115854664
NM_001035.2(RYR2):c.13783-6A>G rs790901
NM_001035.2(RYR2):c.13789T>C (p.Leu4597=) rs1253011897
NM_001035.2(RYR2):c.1392C>A (p.His464Gln) rs749032742
NM_001035.2(RYR2):c.13977G>A (p.Glu4659=) rs78369334
NM_001035.2(RYR2):c.13983C>T (p.Tyr4661=) rs138498780
NM_001035.2(RYR2):c.14029C>T (p.Leu4677=) rs112864477
NM_001035.2(RYR2):c.14101A>G (p.Ile4701Val) rs755065507
NM_001035.2(RYR2):c.14299-12A>G rs41267519
NM_001035.2(RYR2):c.14302G>A (p.Val4768Ile)
NM_001035.2(RYR2):c.14421C>T (p.Asp4807=) rs75206601
NM_001035.2(RYR2):c.14481C>A (p.Ile4827=) rs114303476
NM_001035.2(RYR2):c.14481C>T (p.Ile4827=) rs114303476
NM_001035.2(RYR2):c.1454G>A (p.Arg485Gln) rs752144775
NM_001035.2(RYR2):c.14703G>C (p.Val4901=) rs201371633
NM_001035.2(RYR2):c.1476+4C>T rs369442980
NM_001035.2(RYR2):c.14809-15C>G rs790897
NM_001035.2(RYR2):c.1491C>T (p.Leu497=) rs774279425
NM_001035.2(RYR2):c.1518C>T (p.His506=) rs372620246
NM_001035.2(RYR2):c.1519G>A (p.Val507Ile) rs16835270
NM_001035.2(RYR2):c.1548T>C (p.Asp516=) rs146129084
NM_001035.2(RYR2):c.1611G>A (p.Leu537=) rs78281932
NM_001035.2(RYR2):c.1776A>T (p.Gly592=) rs72549414
NM_001035.2(RYR2):c.1863C>T (p.His621=) rs17686573
NM_001035.2(RYR2):c.1939C>T (p.Arg647Cys) rs202040519
NM_001035.2(RYR2):c.2046A>G (p.Thr682=) rs116098815
NM_001035.2(RYR2):c.2104G>A (p.Gly702Arg) rs569386030
NM_001035.2(RYR2):c.2204-7C>G rs147479514
NM_001035.2(RYR2):c.2301G>T (p.Ser767=) rs117588730
NM_001035.2(RYR2):c.2397-6C>T rs78165942
NM_001035.2(RYR2):c.2573C>T (p.Thr858Met) rs377068202
NM_001035.2(RYR2):c.2574G>A (p.Thr858=) rs367992907
NM_001035.2(RYR2):c.2630A>C (p.His877Pro) rs561321743
NM_001035.2(RYR2):c.2643A>C (p.Ile881=) rs751869107
NM_001035.2(RYR2):c.2711A>G (p.Tyr904Cys) rs201131315
NM_001035.2(RYR2):c.2717C>T (p.Pro906Leu) rs397516522
NM_001035.2(RYR2):c.2719-4T>A rs397516523
NM_001035.2(RYR2):c.2760G>A (p.Glu920=) rs186181155
NM_001035.2(RYR2):c.2973A>G (p.Ser991=) rs2253273
NM_001035.2(RYR2):c.3024G>A (p.Ala1008=) rs566157997
NM_001035.2(RYR2):c.3030T>C (p.Asp1010=) rs138064129
NM_001035.2(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924
NM_001035.2(RYR2):c.3054T>C (p.Tyr1018=) rs113422365
NM_001035.2(RYR2):c.3067-15T>C rs185110433
NM_001035.2(RYR2):c.3153C>T (p.Arg1051=) rs397516524
NM_001035.2(RYR2):c.3320C>T (p.Thr1107Met) rs200236750
NM_001035.2(RYR2):c.3356G>A (p.Arg1119His) rs201312753
NM_001035.2(RYR2):c.3372G>A (p.Pro1124=) rs368017980
NM_001035.2(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962
NM_001035.2(RYR2):c.3407C>T (p.Ala1136Val) rs72549415
NM_001035.2(RYR2):c.3423+6T>G rs1057521957
NM_001035.2(RYR2):c.3425C>T (p.Ala1142Val) rs772148152
NM_001035.2(RYR2):c.345C>T (p.Tyr115=) rs397516525
NM_001035.2(RYR2):c.3484G>A (p.Val1162Met) rs377030538
NM_001035.2(RYR2):c.3599-9delT rs11331089
NM_001035.2(RYR2):c.36G>C (p.Gln12His) rs746811389
NM_001035.2(RYR2):c.3720C>T (p.Ala1240=) rs750335699
NM_001035.2(RYR2):c.3721G>A (p.Val1241Ile) rs185715460
NM_001035.2(RYR2):c.375T>C (p.Tyr125=) rs397516528
NM_001035.2(RYR2):c.3849A>G (p.Leu1283=) rs143603583
NM_001035.2(RYR2):c.3883A>G (p.Ser1295Gly) rs200574919
NM_001035.2(RYR2):c.3888C>T (p.Asn1296=) rs373721253
NM_001035.2(RYR2):c.4044G>A (p.Lys1348=) rs755391572
NM_001035.2(RYR2):c.4069G>C (p.Asp1357His) rs193922626
NM_001035.2(RYR2):c.4094C>T (p.Ala1365Val) rs373261115
NM_001035.2(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512
NM_001035.2(RYR2):c.4368C>G (p.Gly1456=) rs1057522920
NM_001035.2(RYR2):c.4395A>C (p.Val1465=) rs1308165341
NM_001035.2(RYR2):c.4445G>A (p.Arg1482His) rs373024059
NM_001035.2(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676
NM_001035.2(RYR2):c.4488C>T (p.Pro1496=) rs370082063
NM_001035.2(RYR2):c.4597-11delA rs3841805
NM_001035.2(RYR2):c.4605G>A (p.Pro1535=) rs201916326
NM_001035.2(RYR2):c.463+10T>C rs193922627
NM_001035.2(RYR2):c.464-8A>C rs10925391
NM_001035.2(RYR2):c.4652A>G (p.Asn1551Ser) rs185237690
NM_001035.2(RYR2):c.4684-11C>T rs7546045
NM_001035.2(RYR2):c.4684-5G>C rs7522981
NM_001035.2(RYR2):c.4695T>C (p.Pro1565=) rs368826662
NM_001035.2(RYR2):c.4734C>T (p.Pro1578=) rs201880756
NM_001035.2(RYR2):c.4740G>A (p.Pro1580=) rs79811945
NM_001035.2(RYR2):c.4780G>A (p.Val1594Ile) rs794728737
NM_001035.2(RYR2):c.4912T>A (p.Ser1638Thr) rs794728739
NM_001035.2(RYR2):c.4989C>T (p.Ala1663=) rs147060179
NM_001035.2(RYR2):c.5001T>C (p.Leu1667=) rs397516537
NM_001035.2(RYR2):c.5011C>T (p.Arg1671Trp) rs747404408
NM_001035.2(RYR2):c.5127C>A (p.Ile1709=) rs1553522097
NM_001035.2(RYR2):c.5154G>A (p.Arg1718=) rs114534505
NM_001035.2(RYR2):c.5199G>A (p.Thr1733=) rs758505260
NM_001035.2(RYR2):c.5294C>G (p.Ser1765Cys) rs564806219
NM_001035.2(RYR2):c.5373C>A (p.Thr1791=) rs765283048
NM_001035.2(RYR2):c.5400A>G (p.Lys1800=) rs3820216
NM_001035.2(RYR2):c.5586C>T (p.Asp1862=) rs193922628
NM_001035.2(RYR2):c.5613C>T (p.Asp1871=) rs116774472
NM_001035.2(RYR2):c.5619A>G (p.Ala1873=) rs373282364
NM_001035.2(RYR2):c.5654G>A (p.Gly1885Glu) rs41315858
NM_001035.2(RYR2):c.5656G>A (p.Gly1886Ser) rs3766871
NM_001035.2(RYR2):c.576+7G>C rs10925392
NM_001035.2(RYR2):c.594C>T (p.Asn198=) rs727504676
NM_001035.2(RYR2):c.615C>T (p.Ala205=) rs112680790
NM_001035.2(RYR2):c.6203G>A (p.Arg2068Gln)
NM_001035.2(RYR2):c.6336C>T (p.Ser2112=) rs373777614
NM_001035.2(RYR2):c.6337G>A (p.Val2113Met) rs186906598
NM_001035.2(RYR2):c.6433G>C (p.Gly2145Arg) rs587782974
NM_001035.2(RYR2):c.6555+6G>A rs372661934
NM_001035.2(RYR2):c.6689-12T>C rs370972311
NM_001035.2(RYR2):c.6738G>T (p.Ser2246=) rs368207198
NM_001035.2(RYR2):c.677-11T>A rs10754602
NM_001035.2(RYR2):c.684C>T (p.Leu228=) rs72549417
NM_001035.2(RYR2):c.6906T>C (p.Leu2302=) rs707189
NM_001035.2(RYR2):c.6928+4G>A rs79862521
NM_001035.2(RYR2):c.7038A>C (p.Ala2346=) rs116601686
NM_001035.2(RYR2):c.7062C>T (p.Ala2354=) rs182038403
NM_001035.2(RYR2):c.7083T>C (p.Gly2361=) rs749474378
NM_001035.2(RYR2):c.7222-12T>C rs540308433
NM_001035.2(RYR2):c.7233C>T (p.Ala2411=) rs367994477
NM_001035.2(RYR2):c.726C>T (p.Asp242=) rs76380341
NM_001035.2(RYR2):c.7365C>T (p.Asp2455=) rs72549416
NM_001035.2(RYR2):c.7443A>G (p.Gln2481=) rs759314800
NM_001035.2(RYR2):c.7488C>T (p.Leu2496=) rs143906555
NM_001035.2(RYR2):c.7493C>T (p.Ala2498Val) rs374191985
NM_001035.2(RYR2):c.7542G>A (p.Leu2514=) rs371088367
NM_001035.2(RYR2):c.7569C>T (p.Ala2523=) rs748943528
NM_001035.2(RYR2):c.7608T>C (p.Ala2536=) rs367987360
NM_001035.2(RYR2):c.7623C>T (p.His2541=) rs753435083
NM_001035.2(RYR2):c.7689A>G (p.Lys2563=) rs201082550
NM_001035.2(RYR2):c.7806C>T (p.His2602=) rs684923
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.8162T>C (p.Ile2721Thr) rs201500134
NM_001035.2(RYR2):c.8209-4T>C rs371966353
NM_001035.2(RYR2):c.828A>G (p.Arg276=) rs180711819
NM_001035.2(RYR2):c.8414G>A (p.Arg2805His) rs1247067433
NM_001035.2(RYR2):c.8437-7dupG rs148246251
NM_001035.2(RYR2):c.8448C>T (p.Asp2816=) rs144876996
NM_001035.2(RYR2):c.849-8T>C rs16835237
NM_001035.2(RYR2):c.8652G>A (p.Lys2884=) rs758284122
NM_001035.2(RYR2):c.8736G>A (p.Leu2912=) rs762521873
NM_001035.2(RYR2):c.8831-9A>C rs187977513
NM_001035.2(RYR2):c.8873A>G (p.Gln2958Arg) rs34967813
NM_001035.2(RYR2):c.8896-9T>C rs773401697
NM_001035.2(RYR2):c.8899G>A (p.Val2967Ile) rs751546090
NM_001035.2(RYR2):c.8913T>C (p.Ile2971=) rs755520825
NM_001035.2(RYR2):c.8927A>G (p.Lys2976Arg)
NM_001035.2(RYR2):c.892C>T (p.Arg298Cys) rs551099887
NM_001035.2(RYR2):c.9318T>G (p.Ser3106=) rs2797436
NM_001035.2(RYR2):c.9442G>A (p.Val3148Met) rs876657994
NM_001035.2(RYR2):c.9449+8T>A rs60777199
NM_001035.2(RYR2):c.9518C>T (p.Thr3173Ile) rs746161154
NM_001035.2(RYR2):c.9519T>C (p.Thr3173=) rs371931287
NM_001035.2(RYR2):c.9560A>G (p.Lys3187Arg) rs184218219
NM_001035.2(RYR2):c.9569G>A (p.Arg3190Gln) rs369276868
NM_001035.2(RYR2):c.9619A>G (p.Asn3207Asp) rs372601642
NM_001035.2(RYR2):c.9655G>A (p.Val3219Met) rs371147744
NM_001035.2(RYR2):c.9666C>T (p.Ala3222=) rs116442127
NM_001035.2(RYR2):c.9820A>G (p.Asn3274Asp) rs751551400
NM_001035.2(RYR2):c.9867G>A (p.Gly3289=) rs190537182
NM_001035.2:c.8818_8819del
NM_001035.3(RYR2):c.10062C>T (p.Leu3354=)
NM_001035.3(RYR2):c.10324-13C>G
NM_001035.3(RYR2):c.10370A>C (p.Asp3457Ala)
NM_001035.3(RYR2):c.10662A>G (p.Ile3554Met)
NM_001035.3(RYR2):c.10725+4A>T
NM_001035.3(RYR2):c.10770A>G (p.Leu3590=)
NM_001035.3(RYR2):c.10813A>G (p.Met3605Val)
NM_001035.3(RYR2):c.10818C>A (p.Ala3606=)
NM_001035.3(RYR2):c.11002A>G (p.Ile3668Val)
NM_001035.3(RYR2):c.11306G>T (p.Gly3769Val)
NM_001035.3(RYR2):c.11643T>G (p.Val3881=)
NM_001035.3(RYR2):c.11963-4C>T
NM_001035.3(RYR2):c.12085T>C (p.Ser4029Pro)
NM_001035.3(RYR2):c.12092C>A (p.Thr4031Asn)
NM_001035.3(RYR2):c.12171C>G (p.His4057Gln)
NM_001035.3(RYR2):c.12249C>T (p.Phe4083=)
NM_001035.3(RYR2):c.12264C>T (p.His4088=)
NM_001035.3(RYR2):c.12331A>C (p.Asn4111His)
NM_001035.3(RYR2):c.12430C>T (p.Arg4144Cys)
NM_001035.3(RYR2):c.12678G>T (p.Pro4226=)
NM_001035.3(RYR2):c.12778A>G (p.Ser4260Gly)
NM_001035.3(RYR2):c.1293-14A>G
NM_001035.3(RYR2):c.1293-6T>C
NM_001035.3(RYR2):c.13213C>T (p.Leu4405Phe)
NM_001035.3(RYR2):c.1345A>G (p.Ile449Val)
NM_001035.3(RYR2):c.13553T>C (p.Leu4518Pro)
NM_001035.3(RYR2):c.137T>C (p.Leu46Pro)
NM_001035.3(RYR2):c.13903A>G (p.Ile4635Val)
NM_001035.3(RYR2):c.14593C>G (p.Leu4865Val)
NM_001035.3(RYR2):c.14818G>A (p.Val4940Ile)
NM_001035.3(RYR2):c.14875C>T (p.Arg4959Trp)
NM_001035.3(RYR2):c.2045C>G (p.Thr682Arg)
NM_001035.3(RYR2):c.2253T>C (p.Thr751=)
NM_001035.3(RYR2):c.2301G>A (p.Ser767=)
NM_001035.3(RYR2):c.2449C>G (p.Pro817Ala) rs780266883
NM_001035.3(RYR2):c.2450C>T (p.Pro817Leu)
NM_001035.3(RYR2):c.2454G>C (p.Gly818=)
NM_001035.3(RYR2):c.2635G>C (p.Glu879Gln)
NM_001035.3(RYR2):c.284T>A (p.Val95Glu)
NM_001035.3(RYR2):c.2881G>A (p.Val961Met)
NM_001035.3(RYR2):c.2890A>C (p.Met964Leu)
NM_001035.3(RYR2):c.2943G>T (p.Met981Ile)
NM_001035.3(RYR2):c.3045C>T (p.Gly1015=)
NM_001035.3(RYR2):c.3122G>A (p.Arg1041Gln)
NM_001035.3(RYR2):c.3199C>G (p.Pro1067Ala)
NM_001035.3(RYR2):c.3220A>G (p.Arg1074Gly)
NM_001035.3(RYR2):c.3226G>A (p.Glu1076Lys)
NM_001035.3(RYR2):c.3266G>A (p.Arg1089His)
NM_001035.3(RYR2):c.3845G>A (p.Cys1282Tyr)
NM_001035.3(RYR2):c.3875C>G (p.Ser1292Cys)
NM_001035.3(RYR2):c.3933G>A (p.Ala1311=)
NM_001035.3(RYR2):c.4076T>C (p.Val1359Ala)
NM_001035.3(RYR2):c.4171A>C (p.Arg1391=)
NM_001035.3(RYR2):c.4276-9T>C
NM_001035.3(RYR2):c.4384G>A (p.Val1462Ile)
NM_001035.3(RYR2):c.453G>A (p.Glu151=)
NM_001035.3(RYR2):c.4635A>C (p.Ala1545=)
NM_001035.3(RYR2):c.4684-4C>T
NM_001035.3(RYR2):c.4802A>G (p.Asn1601Ser)
NM_001035.3(RYR2):c.4815G>A (p.Lys1605=)
NM_001035.3(RYR2):c.4818A>G (p.Val1606=)
NM_001035.3(RYR2):c.4821T>C (p.Asp1607=)
NM_001035.3(RYR2):c.4831A>G (p.Ile1611Val)
NM_001035.3(RYR2):c.4875G>A (p.Leu1625=)
NM_001035.3(RYR2):c.4911-10C>T
NM_001035.3(RYR2):c.5021A>G (p.His1674Arg)
NM_001035.3(RYR2):c.5241C>G (p.Gly1747=)
NM_001035.3(RYR2):c.5298C>T (p.Pro1766=)
NM_001035.3(RYR2):c.5334C>T (p.Tyr1778=)
NM_001035.3(RYR2):c.5428G>C (p.Val1810Leu)
NM_001035.3(RYR2):c.5499C>A (p.Ile1833=)
NM_001035.3(RYR2):c.555C>T (p.Ser185=)
NM_001035.3(RYR2):c.5593G>A (p.Glu1865Lys)
NM_001035.3(RYR2):c.5617G>A (p.Ala1873Thr)
NM_001035.3(RYR2):c.5680C>A (p.Leu1894Ile)
NM_001035.3(RYR2):c.5916+9A>G
NM_001035.3(RYR2):c.6167-15A>G
NM_001035.3(RYR2):c.6174G>A (p.Leu2058=)
NM_001035.3(RYR2):c.6307C>G (p.Pro2103Ala)
NM_001035.3(RYR2):c.6332T>C (p.Val2111Ala)
NM_001035.3(RYR2):c.6677G>A (p.Ser2226Asn)
NM_001035.3(RYR2):c.6690C>T (p.Ala2230=)
NM_001035.3(RYR2):c.6799C>T (p.Arg2267Cys)
NM_001035.3(RYR2):c.6952A>G (p.Asn2318Asp)
NM_001035.3(RYR2):c.7052T>C (p.Ile2351Thr)
NM_001035.3(RYR2):c.7102T>G (p.Ser2368Ala)
NM_001035.3(RYR2):c.710T>C (p.Leu237Pro)
NM_001035.3(RYR2):c.723G>A (p.Met241Ile)
NM_001035.3(RYR2):c.7290A>G (p.Gly2430=)
NM_001035.3(RYR2):c.7303G>T (p.Val2435Phe)
NM_001035.3(RYR2):c.8130T>C (p.Asn2710=)
NM_001035.3(RYR2):c.8218G>A (p.Gly2740Arg)
NM_001035.3(RYR2):c.8240A>T (p.Tyr2747Phe)
NM_001035.3(RYR2):c.8449G>A (p.Ala2817Thr)
NM_001035.3(RYR2):c.8591G>A (p.Gly2864Glu)
NM_001035.3(RYR2):c.8692A>G (p.Ile2898Val)
NM_001035.3(RYR2):c.8791C>T (p.Arg2931Cys)
NM_001035.3(RYR2):c.9190G>A (p.Ala3064Thr)
NM_001035.3(RYR2):c.9410T>C (p.Leu3137Ser)
NM_001035.3(RYR2):c.9581-8T>C

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.