ClinVar Miner

List of variants in gene RYR1 reported as uncertain significance for Myopathy, Central Core

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 140
Download table as spreadsheet
HGVS dbSNP
NM_000540.2(RYR1):c.-69T>G rs886054377
NM_000540.2(RYR1):c.-70dupC rs886054376
NM_000540.2(RYR1):c.-74A>C rs886054375
NM_000540.2(RYR1):c.-81dupC rs886054374
NM_000540.2(RYR1):c.10042C>T (p.Arg3348Cys) rs118204421
NM_000540.2(RYR1):c.10263G>A (p.Ala3421=) rs778171066
NM_000540.2(RYR1):c.10359C>T (p.Arg3453=) rs376830015
NM_000540.2(RYR1):c.10458C>T (p.Ser3486=) rs770132934
NM_000540.2(RYR1):c.10803C>A (p.Ala3601=) rs141542477
NM_000540.2(RYR1):c.10938-11C>T rs760754746
NM_000540.2(RYR1):c.10938-12T>A rs767711818
NM_000540.2(RYR1):c.10938-9C>T rs201976186
NM_000540.2(RYR1):c.11193+15C>G rs370928637
NM_000540.2(RYR1):c.11193+3G>A rs886054400
NM_000540.2(RYR1):c.11292C>T (p.Tyr3764=) rs886054401
NM_000540.2(RYR1):c.11385C>T (p.Ser3795=) rs757745087
NM_000540.2(RYR1):c.11412C>T (p.Leu3804=) rs376851030
NM_000540.2(RYR1):c.11687A>T (p.Asn3896Ile) rs1555793251
NM_000540.2(RYR1):c.11735T>A (p.Ile3912Asn) rs150588606
NM_000540.2(RYR1):c.11907+8G>A rs886054402
NM_000540.2(RYR1):c.12084G>T (p.Ser4028=) rs571477269
NM_000540.2(RYR1):c.12218C>T (p.Ser4073Phe) rs763042731
NM_000540.2(RYR1):c.12219T>A (p.Ser4073=) rs764395582
NM_000540.2(RYR1):c.12619C>A (p.Pro4207Thr) rs886054403
NM_000540.2(RYR1):c.12802G>A (p.Ala4268Thr) rs886054404
NM_000540.2(RYR1):c.12860_12869delCCACGGCGGCinsT (p.Ala4287_Ala4290delinsVal) rs796065337
NM_000540.2(RYR1):c.12954G>A (p.Arg4318=) rs886054405
NM_000540.2(RYR1):c.13038T>C (p.Ala4346=) rs758223017
NM_000540.2(RYR1):c.13128G>A (p.Val4376=) rs886054406
NM_000540.2(RYR1):c.13342C>T (p.Pro4448Ser) rs886054407
NM_000540.2(RYR1):c.13350G>A (p.Gly4450=) rs748743312
NM_000540.2(RYR1):c.13352C>A (p.Ala4451Asp) rs886054408
NM_000540.2(RYR1):c.13359_13364dupTCTCGG (p.Gly4455_Asp4456insLeuGly) rs886054409
NM_000540.2(RYR1):c.13369A>T (p.Met4457Leu) rs867851900
NM_000540.2(RYR1):c.13437+14C>A rs771599721
NM_000540.2(RYR1):c.13551C>T (p.Pro4517=) rs886054410
NM_000540.2(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130
NM_000540.2(RYR1):c.13699G>T (p.Ala4567Ser) rs371441593
NM_000540.2(RYR1):c.13807G>C (p.Gly4603Arg) rs373231458
NM_000540.2(RYR1):c.13998+3G>A rs765404523
NM_000540.2(RYR1):c.14196C>A (p.Ile4732=) rs201670423
NM_000540.2(RYR1):c.14270G>A (p.Arg4757His) rs768360593
NM_000540.2(RYR1):c.14283G>A (p.Pro4761=) rs201157293
NM_000540.2(RYR1):c.1441-12T>C rs760987340
NM_000540.2(RYR1):c.14670G>C (p.Val4890=) rs773080803
NM_000540.2(RYR1):c.14706C>T (p.Ile4902=) rs886054411
NM_000540.2(RYR1):c.14717C>T (p.Ala4906Val) rs118192153
NM_000540.2(RYR1):c.14981T>C (p.Met4994Thr) rs886054412
NM_000540.2(RYR1):c.1808G>A (p.Cys603Tyr) rs886054380
NM_000540.2(RYR1):c.2091C>T (p.Ala697=) rs138704724
NM_000540.2(RYR1):c.2356G>A (p.Val786Ile) rs369281291
NM_000540.2(RYR1):c.2383C>T (p.Arg795Cys) rs547608972
NM_000540.2(RYR1):c.2653C>T (p.Arg885Cys) rs775256033
NM_000540.2(RYR1):c.2711C>T (p.Pro904Leu) rs544742812
NM_000540.2(RYR1):c.2822C>T (p.Ala941Val) rs748568687
NM_000540.2(RYR1):c.2823G>A (p.Ala941=) rs750305530
NM_000540.2(RYR1):c.2844C>T (p.Asn948=) rs761045773
NM_000540.2(RYR1):c.2937G>A (p.Ala979=) rs775442275
NM_000540.2(RYR1):c.2995C>T (p.Arg999Cys) rs150442096
NM_000540.2(RYR1):c.3021C>T (p.Ser1007=) rs143891703
NM_000540.2(RYR1):c.3055C>T (p.Arg1019Trp) rs757715804
NM_000540.2(RYR1):c.3299G>A (p.Arg1100His) rs755973279
NM_000540.2(RYR1):c.3379C>T (p.Arg1127Cys) rs753701890
NM_000540.2(RYR1):c.3420C>T (p.Arg1140=) rs201599911
NM_000540.2(RYR1):c.3555C>T (p.Asp1185=) rs377282283
NM_000540.2(RYR1):c.3773G>T (p.Arg1258Leu) rs886054381
NM_000540.2(RYR1):c.3981C>G (p.Pro1327=) rs763082630
NM_000540.2(RYR1):c.4038C>A (p.Asn1346Lys) rs777049924
NM_000540.2(RYR1):c.4122T>A (p.Asn1374Lys) rs886054382
NM_000540.2(RYR1):c.4160+8G>T rs886054383
NM_000540.2(RYR1):c.4182G>T (p.Lys1394Asn) rs886054384
NM_000540.2(RYR1):c.4213C>A (p.Pro1405Thr) rs376567445
NM_000540.2(RYR1):c.4257C>T (p.Asn1419=) rs36042816
NM_000540.2(RYR1):c.4266C>T (p.Asp1422=) rs886054385
NM_000540.2(RYR1):c.4269C>T (p.Pro1423=) rs2229141
NM_000540.2(RYR1):c.4294-4C>T rs368108496
NM_000540.2(RYR1):c.4306G>A (p.Val1436Met) rs200289457
NM_000540.2(RYR1):c.4339G>A (p.Val1447Met) rs370851779
NM_000540.2(RYR1):c.4342T>C (p.Trp1448Arg) rs886054386
NM_000540.2(RYR1):c.4480G>C (p.Val1494Leu) rs886054387
NM_000540.2(RYR1):c.4520G>A (p.Arg1507Gln) rs758206000
NM_000540.2(RYR1):c.4637A>G (p.Lys1546Arg) rs759947063
NM_000540.2(RYR1):c.4650C>T (p.Ala1550=) rs200600174
NM_000540.2(RYR1):c.4878C>T (p.Ala1626=) rs369466056
NM_000540.2(RYR1):c.5025G>C (p.Leu1675=) rs886054388
NM_000540.2(RYR1):c.537+12C>A rs779869638
NM_000540.2(RYR1):c.537+13G>A rs754569485
NM_000540.2(RYR1):c.5385G>C (p.Pro1795=) rs772422894
NM_000540.2(RYR1):c.5438G>T (p.Arg1813Met) rs886054389
NM_000540.2(RYR1):c.5525T>C (p.Leu1842Pro) rs886054390
NM_000540.2(RYR1):c.5584A>C (p.Ile1862Leu) rs886054391
NM_000540.2(RYR1):c.5637C>T (p.Asp1879=) rs143418190
NM_000540.2(RYR1):c.577T>A (p.Ser193Thr) rs886054379
NM_000540.2(RYR1):c.5921G>A (p.Arg1974Gln) rs748907487
NM_000540.2(RYR1):c.5G>C (p.Gly2Ala) rs886054378
NM_000540.2(RYR1):c.6023T>C (p.Met2008Thr) rs199947661
NM_000540.2(RYR1):c.6078G>A (p.Glu2026=) rs201310026
NM_000540.2(RYR1):c.6128-3C>T rs775568216
NM_000540.2(RYR1):c.619C>T (p.Arg207Cys) rs748140394
NM_000540.2(RYR1):c.6211C>T (p.Arg2071Trp) rs147441124
NM_000540.2(RYR1):c.6262G>A (p.Glu2088Lys) rs587784378
NM_000540.2(RYR1):c.6272C>A (p.Pro2091His) rs1555781055
NM_000540.2(RYR1):c.6318C>A (p.Ala2106=) rs769443054
NM_000540.2(RYR1):c.6343G>A (p.Glu2115Lys) rs147197176
NM_000540.2(RYR1):c.6651C>T (p.Gly2217=) rs371006370
NM_000540.2(RYR1):c.6654C>T (p.Gly2218=) rs149185729
NM_000540.2(RYR1):c.6730C>T (p.Arg2244Trp) rs772753793
NM_000540.2(RYR1):c.6799A>G (p.Met2267Val) rs886054393
NM_000540.2(RYR1):c.6910G>A (p.Gly2304Ser) rs377080876
NM_000540.2(RYR1):c.7028-11C>G rs369342449
NM_000540.2(RYR1):c.7053T>C (p.Asn2351=) rs748167551
NM_000540.2(RYR1):c.7136C>A (p.Ala2379Asp) rs886054394
NM_000540.2(RYR1):c.7344T>C (p.Gly2448=) rs199813873
NM_000540.2(RYR1):c.7422G>A (p.Leu2474=) rs758872814
NM_000540.2(RYR1):c.7488G>A (p.Pro2496=) rs375997435
NM_000540.2(RYR1):c.7536C>T (p.Ile2512=) rs368560744
NM_000540.2(RYR1):c.7640C>T (p.Ala2547Val) rs751482960
NM_000540.2(RYR1):c.7755C>T (p.Thr2585=) rs768702294
NM_000540.2(RYR1):c.7813G>A (p.Asp2605Asn) rs754339645
NM_000540.2(RYR1):c.7842C>T (p.Ile2614=) rs777420696
NM_000540.2(RYR1):c.7874G>T (p.Arg2625Leu) rs751301767
NM_000540.2(RYR1):c.7904A>T (p.Glu2635Val) rs755651622
NM_000540.2(RYR1):c.7927-7C>T rs886054395
NM_000540.2(RYR1):c.8082G>A (p.Glu2694=) rs745619519
NM_000540.2(RYR1):c.8310+10A>G rs372730488
NM_000540.2(RYR1):c.8466G>A (p.Thr2822=) rs761622550
NM_000540.2(RYR1):c.8505A>T (p.Glu2835Asp) rs144777676
NM_000540.2(RYR1):c.8550T>C (p.Asp2850=) rs767925886
NM_000540.2(RYR1):c.8686G>A (p.Ala2896Thr) rs886054397
NM_000540.2(RYR1):c.8715G>C (p.Leu2905=) rs368684717
NM_000540.2(RYR1):c.89A>T (p.Glu30Val) rs145771708
NM_000540.2(RYR1):c.9091G>A (p.Ala3031Thr) rs756311466
NM_000540.2(RYR1):c.9261C>T (p.Ile3087=) rs56338790
NM_000540.2(RYR1):c.9356G>A (p.Arg3119His) rs193922833
NM_000540.2(RYR1):c.9555-10C>T rs774666035
NM_000540.2(RYR1):c.9638A>G (p.Tyr3213Cys) rs886054398
NM_000540.2(RYR1):c.9685+8G>T rs752615788
NM_000540.2(RYR1):c.9825C>T (p.Pro3275=) rs753425281
NM_000540.2(RYR1):c.9846C>T (p.Pro3282=) rs886054399
NM_001042723.1(RYR1):c.5140_5142del (p.Leu1714del) rs1438501767

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.