ClinVar Miner

List of variants in gene RYR1 reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 125
Download table as spreadsheet
HGVS dbSNP
NM_000540.2(RYR1):c.10147G>A (p.Ala3383Thr) rs747790775
NM_000540.2(RYR1):c.10154C>T (p.Ala3385Val) rs772566556
NM_000540.2(RYR1):c.10196C>T (p.Ser3399Phe) rs1085307803
NM_000540.2(RYR1):c.10219G>A (p.Ala3407Thr) rs143533100
NM_000540.2(RYR1):c.10307G>A (p.Arg3436Lys) rs574486124
NM_000540.2(RYR1):c.1035C>G (p.Cys345Trp) rs1170304013
NM_000540.2(RYR1):c.10594C>T (p.Leu3532Phe) rs1131691407
NM_000540.2(RYR1):c.10616G>A (p.Arg3539His) rs143987857
NM_000540.2(RYR1):c.10648C>T (p.Arg3550Trp) rs536304635
NM_000540.2(RYR1):c.10729C>T (p.Arg3577Trp) rs538497899
NM_000540.2(RYR1):c.11049_11051GGA[4] (p.Glu3689del) rs760784102
NM_000540.2(RYR1):c.1108G>A (p.Val370Met) rs537344365
NM_000540.2(RYR1):c.11321C>T (p.Ala3774Val) rs146361173
NM_000540.2(RYR1):c.11599C>T (p.Arg3867Cys) rs138593495
NM_000540.2(RYR1):c.11778+3G>C rs758215068
NM_000540.2(RYR1):c.11878G>C (p.Val3960Leu) rs1064796578
NM_000540.2(RYR1):c.12203A>G (p.Lys4068Arg) rs114009747
NM_000540.2(RYR1):c.12250C>T (p.Arg4084Cys) rs755879946
NM_000540.2(RYR1):c.12407G>A (p.Arg4136His) rs572373150
NM_000540.2(RYR1):c.12449C>T (p.Ser4150Leu) rs143843083
NM_000540.2(RYR1):c.12551G>C (p.Gly4184Ala) rs1555798622
NM_000540.2(RYR1):c.12553G>A (p.Ala4185Thr) rs151119428
NM_000540.2(RYR1):c.12575T>C (p.Ile4192Thr) rs1555798659
NM_000540.2(RYR1):c.12608A>G (p.Gln4203Arg) rs757438220
NM_000540.2(RYR1):c.12749T>C (p.Ile4250Thr) rs1316713022
NM_000540.2(RYR1):c.12841G>A (p.Gly4281Arg) rs1131691504
NM_000540.2(RYR1):c.12860_12869delinsT (p.Ala4287_Ala4290delinsVal) rs796065337
NM_000540.2(RYR1):c.12881C>T (p.Thr4294Met) rs587784372
NM_000540.2(RYR1):c.12884C>T (p.Ala4295Val) rs193922855
NM_000540.2(RYR1):c.12947_12958dup (p.Arg4316_Arg4319dup) rs1455190973
NM_000540.2(RYR1):c.12956G>A (p.Arg4319Gln) rs539194350
NM_000540.2(RYR1):c.13036G>A (p.Ala4346Thr) rs1296263427
NM_000540.2(RYR1):c.13519G>A (p.Glu4507Lys) rs978180266
NM_000540.2(RYR1):c.13867G>A (p.Asp4623Asn) rs547709829
NM_000540.2(RYR1):c.1404_1412del (p.Ser469_Arg471del) rs1555767373
NM_000540.2(RYR1):c.1415A>G (p.Asn472Ser) rs1057518361
NM_000540.2(RYR1):c.1418G>A (p.Arg473His) rs538087438
NM_000540.2(RYR1):c.14270G>A (p.Arg4757His) rs768360593
NM_000540.2(RYR1):c.14304-6C>A rs794728693
NM_000540.2(RYR1):c.14344G>A (p.Gly4782Arg) rs746538672
NM_000540.2(RYR1):c.14421_14423CTT[2] (p.Phe4810del) rs1555803810
NM_000540.2(RYR1):c.14518A>T (p.Met4840Leu) rs933599635
NM_000540.2(RYR1):c.14616_14621dup (p.Glu4872_Pro4873dup) rs1555804000
NM_000540.2(RYR1):c.14761_14763TTC[5] (p.Phe4924dup) rs1064794572
NM_000540.2(RYR1):c.1561C>T (p.Leu521Phe) rs750009277
NM_000540.2(RYR1):c.1735G>A (p.Glu579Lys) rs753907367
NM_000540.2(RYR1):c.1744A>G (p.Ile582Val) rs1131691591
NM_000540.2(RYR1):c.175C>T (p.Pro59Ser) rs1555762521
NM_000540.2(RYR1):c.1792G>A (p.Val598Ile) rs930876441
NM_000540.2(RYR1):c.1825A>G (p.Asn609Asp) rs1131691719
NM_000540.2(RYR1):c.1861A>G (p.Thr621Ala) rs794728694
NM_000540.2(RYR1):c.1909A>G (p.Ile637Val) rs567084532
NM_000540.2(RYR1):c.1936A>C (p.Asn646His) rs1064796780
NM_000540.2(RYR1):c.2107G>A (p.Gly703Ser) rs773211015
NM_000540.2(RYR1):c.2122G>A (p.Asp708Asn) rs138874610
NM_000540.2(RYR1):c.2275A>G (p.Asn759Asp) rs147320363
NM_000540.2(RYR1):c.2365C>T (p.Arg789Trp) rs765445445
NM_000540.2(RYR1):c.2411C>T (p.Pro804Leu) rs1057524519
NM_000540.2(RYR1):c.2456G>A (p.Arg819Gln) rs752831432
NM_000540.2(RYR1):c.251C>G (p.Thr84Arg) rs186983396
NM_000540.2(RYR1):c.2590C>T (p.Pro864Ser) rs1131691920
NM_000540.2(RYR1):c.2603G>A (p.Arg868His) rs750938678
NM_000540.2(RYR1):c.271-7C>G rs192495718
NM_000540.2(RYR1):c.2923C>T (p.Arg975Trp) rs371278145
NM_000540.2(RYR1):c.2933C>T (p.Pro978Leu) rs200124278
NM_000540.2(RYR1):c.2996G>A (p.Arg999His) rs180714609
NM_000540.2(RYR1):c.3157G>A (p.Glu1053Lys) rs746198645
NM_000540.2(RYR1):c.3301G>A (p.Val1101Met) rs145088074
NM_000540.2(RYR1):c.3381+5G>A rs199691436
NM_000540.2(RYR1):c.3505A>C (p.Met1169Leu) rs139069946
NM_000540.2(RYR1):c.3751C>A (p.His1251Asn) rs943777976
NM_000540.2(RYR1):c.3778G>A (p.Asp1260Asn) rs1064796577
NM_000540.2(RYR1):c.4038C>A (p.Asn1346Lys) rs777049924
NM_000540.2(RYR1):c.4259G>A (p.Arg1420His) rs150499158
NM_000540.2(RYR1):c.4346C>T (p.Ala1449Val) rs775455157
NM_000540.2(RYR1):c.4682T>A (p.Ile1561Asn) rs1057518453
NM_000540.2(RYR1):c.4717C>T (p.Pro1573Ser) rs1131691497
NM_000540.2(RYR1):c.4879G>A (p.Val1627Met) rs568486136
NM_000540.2(RYR1):c.4978C>G (p.Arg1660Gly) rs1131691406
NM_000540.2(RYR1):c.5000G>A (p.Arg1667His) rs138978909
NM_000540.2(RYR1):c.5132A>C (p.Tyr1711Ser) rs754785770
NM_000540.2(RYR1):c.5317C>T (p.Pro1773Ser) rs192863857
NM_000540.2(RYR1):c.5339C>G (p.Pro1780Arg) rs369480385
NM_000540.2(RYR1):c.5638G>C (p.Glu1880Gln) rs777733662
NM_000540.2(RYR1):c.5815-16G>A rs1064796679
NM_000540.2(RYR1):c.5860C>T (p.Arg1954Cys) rs1354061498
NM_000540.2(RYR1):c.5926C>T (p.Arg1976Cys) rs747644094
NM_000540.2(RYR1):c.5942T>G (p.Ile1981Arg) rs1057524609
NM_000540.2(RYR1):c.5980C>T (p.Arg1994Cys) rs369167120
NM_000540.2(RYR1):c.6016-5C>G rs369996114
NM_000540.2(RYR1):c.6208G>A (p.Val2070Met) rs749274175
NM_000540.2(RYR1):c.6418C>T (p.Arg2140Trp) rs750275456
NM_000540.2(RYR1):c.6421G>T (p.Ala2141Ser) rs1064796405
NM_000540.2(RYR1):c.6478G>A (p.Gly2160Ser) rs143398211
NM_000540.2(RYR1):c.6670C>T (p.Arg2224Cys) rs199870223
NM_000540.2(RYR1):c.6821A>G (p.Asp2274Gly) rs1064796493
NM_000540.2(RYR1):c.6838G>T (p.Val2280Phe) rs193922797
NM_000540.2(RYR1):c.6884T>C (p.Leu2295Pro) rs1555782434
NM_000540.2(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895
NM_000540.2(RYR1):c.7028-10G>A rs1005260620
NM_000540.2(RYR1):c.7075C>T (p.Arg2359Trp) rs769482889
NM_000540.2(RYR1):c.7102C>G (p.Leu2368Val) rs139498212
NM_000540.2(RYR1):c.7121C>T (p.Ser2374Leu) rs1131692006
NM_000540.2(RYR1):c.722G>A (p.Arg241His) rs552007612
NM_000540.2(RYR1):c.7483G>A (p.Val2495Met) rs200291321
NM_000540.2(RYR1):c.7598C>T (p.Ala2533Val) rs1085307809
NM_000540.2(RYR1):c.7742C>T (p.Ser2581Phe) rs746348043
NM_000540.2(RYR1):c.7926+5G>A rs1555784807
NM_000540.2(RYR1):c.7976C>T (p.Thr2659Met) rs138325444
NM_000540.2(RYR1):c.8093T>C (p.Met2698Thr) rs185021599
NM_000540.2(RYR1):c.8330A>T (p.Tyr2777Phe) rs769276412
NM_000540.2(RYR1):c.8831T>C (p.Met2944Thr) rs1555786188
NM_000540.2(RYR1):c.9155A>G (p.His3052Arg) rs1171211801
NM_000540.2(RYR1):c.9277C>T (p.Arg3093Cys) rs1064797039
NM_000540.2(RYR1):c.929C>T (p.Ala310Val) rs966781989
NM_000540.2(RYR1):c.9356G>A (p.Arg3119His) rs193922833
NM_000540.2(RYR1):c.94C>T (p.Leu32Phe) rs138630815
NM_000540.2(RYR1):c.9523C>G (p.Leu3175Val) rs528199298
NM_000540.2(RYR1):c.9555-7C>G rs376790946
NM_000540.2(RYR1):c.958_960delGAG rs1064794313
NM_000540.2(RYR1):c.9635A>G (p.Glu3212Gly) rs199738299
NM_000540.2(RYR1):c.9673C>T (p.Arg3225Trp) rs766665861
NM_000540.2(RYR1):c.9703A>C (p.Ser3235Arg) rs747488155
NM_000540.2(RYR1):c.9713A>G (p.Glu3238Gly) rs200950673
NM_000540.2(RYR1):c.9895G>A (p.Gly3299Ser) rs372203483

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.