Total 31 pathogenic variants reported for Multiminicore myopathy 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000540.3(RYR1):c.4894C>T (p.Pro1632Ser) SNV
Germline		 Chr19:38483476 Conflicting classifications of pathogenicity not specified
Malignant hyperthermia of anesthesia
Malignant hypothermia
Neuromuscular disease, congenital, with uniform type 1 fiber
Condition: not provided
Multiminicore myopathy
Central core myopathy
RYR1-related disorder		 Criteria Provided
Conflicting Classifications
 CA024469 rs_76537615

9 SubmittersRCV000147430RCV000342522RCV000239106RCV000394130RCV001288364RCV000282746RCV000298179RCV000553661
NM_000540.3(RYR1):c.2119G>A (p.Gly707Ser) SNV
Germline		 Chr19:38458244 Likely pathogenic Multiminicore myopathy
Condition: not provided		 Criteria Provided
Single Submitter
 CA024327 rs_376526576

2 SubmittersRCV000148815RCV003441757
NM_000540.3(RYR1):c.3800C>G (p.Pro1267Arg) SNV
Germline		 Chr19:38473411 Conflicting classifications of pathogenicity Multiminicore myopathy
Myopathy, RYR1-associated
Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA024408 rs_150495044

8 SubmittersRCV000148817RCV004689626RCV000721509RCV000812631RCV003998171
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly) SNV
Germline		 Chr19:38517386 Conflicting classifications of pathogenicity Multiminicore myopathy
Malignant hyperthermia of anesthesia
Central core myopathy
Neuromuscular disease, congenital, with uniform type 1 fiber
Condition: not provided
Malignant hyperthermia, susceptibility to, 1
Axial myopathy, late-onset
not specified
RYR1-related disorder		 Criteria Provided
Conflicting Classifications
 CA024999 rs_200950673

9 SubmittersRCV000378617RCV000287628RCV000323995RCV000382036RCV000725266RCV000990203RCV000148800RCV000281816RCV001084344
NM_000540.3(RYR1):c.12588C>T (p.Ile4196=) SNV
Germline		 Chr19:38561418 Conflicting classifications of pathogenicity not specified
Central core myopathy
Neuromuscular disease, congenital, with uniform type 1 fiber
Multiminicore myopathy
Malignant hyperthermia of anesthesia
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA059141 rs_61739895

6 SubmittersRCV000193583RCV000278057RCV000293474RCV000337896RCV000402166RCV000557907RCV003996905
NM_000540.3(RYR1):c.3381C>T (p.Arg1127=) SNV
Germline		 Chr19:38467812 Conflicting classifications of pathogenicity not specified
Multiminicore myopathy
Malignant hyperthermia of anesthesia
Central core myopathy
Neuromuscular disease, congenital, with uniform type 1 fiber
RYR1-related disorder
Condition: not provided
Malignant hyperthermia, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA064758 rs_200780880

7 SubmittersRCV000250679RCV000282896RCV000340280RCV000379896RCV000397188RCV000559351RCV000721491RCV003514334
NM_000540.3(RYR1):c.4294-4C>T SNV
Germline		 Chr19:38477706 Conflicting classifications of pathogenicity not specified
Malignant hyperthermia of anesthesia
Neuromuscular disease, congenital, with uniform type 1 fiber
Multiminicore myopathy
Central core myopathy
Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA065904 rs_368108496

6 SubmittersRCV000250307RCV000301431RCV000304590RCV000336036RCV000399614RCV000513035RCV001083634RCV003514335
NM_000540.3(RYR1):c.13369A>T (p.Met4457Leu) SNV
Germline		 Chr19:38565703 Conflicting classifications of pathogenicity Neuromuscular disease, congenital, with uniform type 1 fiber
Malignant hyperthermia of anesthesia
Multiminicore myopathy
Central core myopathy
RYR1-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10605744 rs_867851900

5 SubmittersRCV000296266RCV000344212RCV000388448RCV000400884RCV000549654RCV000721315
NM_000540.3(RYR1):c.6318C>A (p.Ala2106=) SNV
Germline		 Chr19:38494395 Conflicting classifications of pathogenicity Malignant hyperthermia of anesthesia
Multiminicore myopathy
Central core myopathy
Neuromuscular disease, congenital, with uniform type 1 fiber
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA068067 rs_769443054

3 SubmittersRCV000292503RCV000296149RCV000351067RCV000386877RCV000655691RCV004804985
NM_000540.3(RYR1):c.9148G>A (p.Val3050Ile) SNV
Germline		 Chr19:38511586 Conflicting classifications of pathogenicity Central core myopathy
Neuromuscular disease, congenital, with uniform type 1 fiber
Multiminicore myopathy
Malignant hyperthermia of anesthesia
RYR1-related disorder
Condition: not provided
Malignant hyperthermia, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA073259 rs_200797340

6 SubmittersRCV000289050RCV000346443RCV000381209RCV000384648RCV000655514RCV001660679RCV003995872
NM_000540.3(RYR1):c.9261C>T (p.Ile3087=) SNV
Germline		 Chr19:38512272 Conflicting classifications of pathogenicity Multiminicore myopathy
Neuromuscular disease, congenital, with uniform type 1 fiber
Malignant hyperthermia of anesthesia
Central core myopathy
Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA073441 rs_56338790

6 SubmittersRCV000265326RCV000268916RCV000304062RCV000361218RCV000721733RCV001087825RCV003995873
NM_000540.3(RYR1):c.10359C>T (p.Arg3453=) SNV
Germline		 Chr19:38523228 Conflicting classifications of pathogenicity Malignant hyperthermia of anesthesia
Multiminicore myopathy
Neuromuscular disease, congenital, with uniform type 1 fiber
Central core myopathy
Condition: not provided
RYR1-related disorder		 Criteria Provided
Conflicting Classifications
 CA053293 rs_376830015

3 SubmittersRCV000275472RCV000315315RCV000330605RCV000369963RCV000721200RCV001465261
NM_000540.3(RYR1):c.11517C>T (p.Ser3839=) SNV
Germline		 Chr19:38535997 Conflicting classifications of pathogenicity Central core myopathy
Neuromuscular disease, congenital, with uniform type 1 fiber
Malignant hyperthermia of anesthesia
Multiminicore myopathy
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA057084 rs_151239950

3 SubmittersRCV000306797RCV000363542RCV000364857RCV000391757RCV001050295RCV003514351
NM_000540.3(RYR1):c.13038T>C (p.Ala4346=) SNV
Germline		 Chr19:38565372 Conflicting classifications of pathogenicity Central core myopathy
Neuromuscular disease, congenital, with uniform type 1 fiber
Multiminicore myopathy
Malignant hyperthermia of anesthesia
RYR1-related disorder		 Criteria Provided
Conflicting Classifications
 CA059539 rs_758223017

2 SubmittersRCV000277297RCV000313598RCV000363576RCV000366875RCV003757174
NM_000540.3(RYR1):c.537+13G>A SNV
Germline		 Chr19:38444274 Conflicting classifications of pathogenicity Malignant hyperthermia of anesthesia
Neuromuscular disease, congenital, with uniform type 1 fiber
Central core myopathy
Multiminicore myopathy
RYR1-related disorder		 Criteria Provided
Conflicting Classifications
 CA066968 rs_754569485

2 SubmittersRCV000280476RCV000340557RCV000374886RCV000390244RCV003757168
NM_000540.3(RYR1):c.6651C>T (p.Gly2217=) SNV
Germline		 Chr19:38496317 Conflicting classifications of pathogenicity Neuromuscular disease, congenital, with uniform type 1 fiber
Multiminicore myopathy
Central core myopathy
Malignant hyperthermia of anesthesia
RYR1-related disorder		 Criteria Provided
Conflicting Classifications
 CA068509 rs_371006370

2 SubmittersRCV000273945RCV000319895RCV000355962RCV000368727RCV000868600
NM_000540.3(RYR1):c.7842C>T (p.Ile2614=) SNV
Germline		 Chr19:38502886 Conflicting classifications of pathogenicity Neuromuscular disease, congenital, with uniform type 1 fiber
Multiminicore myopathy
Malignant hyperthermia of anesthesia
Central core myopathy
RYR1-related disorder		 Criteria Provided
Conflicting Classifications
 CA070814 rs_777420696

2 SubmittersRCV000265194RCV000320354RCV000355376RCV000379531RCV002057507
NM_000540.3(RYR1):c.8514A>C (p.Lys2838Asn) SNV
Germline		 Chr19:38505919 Conflicting classifications of pathogenicity Malignant hyperthermia of anesthesia
Central core myopathy
Multiminicore myopathy
Neuromuscular disease, congenital, with uniform type 1 fiber
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA072142 rs_140171924

3 SubmittersRCV000272700RCV000292819RCV000327865RCV000387044RCV002521223RCV004804986
NM_000540.3(RYR1):c.9555-10C>T SNV
Germline		 Chr19:38516077 Conflicting classifications of pathogenicity Central core myopathy
Multiminicore myopathy
Malignant hyperthermia of anesthesia
Neuromuscular disease, congenital, with uniform type 1 fiber
not specified
RYR1-related disorder		 Criteria Provided
Conflicting Classifications
 CA073793 rs_774666035

3 SubmittersRCV000259435RCV000317059RCV000332119RCV000370403RCV000429807RCV001459437
NM_000540.3(RYR1):c.11292C>T (p.Tyr3764=) SNV
Germline		 Chr19:38534752 Conflicting classifications of pathogenicity Central core myopathy
Malignant hyperthermia of anesthesia
Multiminicore myopathy
Neuromuscular disease, congenital, with uniform type 1 fiber
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA10648646 rs_886054401

3 SubmittersRCV000276753RCV000315425RCV000354968RCV000366856RCV001506741RCV003995875
NM_000540.3(RYR1):c.3021C>T (p.Ser1007=) SNV
Germline		 Chr19:38466241 Conflicting classifications of pathogenicity Neuromuscular disease, congenital, with uniform type 1 fiber
Multiminicore myopathy
Malignant hyperthermia of anesthesia
Central core myopathy
Condition: not provided
RYR1-related disorder		 Criteria Provided
Conflicting Classifications
 CA064318 rs_143891703

3 SubmittersRCV000267444RCV000303829RCV000358587RCV000362093RCV000841631RCV001483259
NM_000540.3(RYR1):c.7344T>C (p.Gly2448=) SNV
Germline		 Chr19:38500626 Conflicting classifications of pathogenicity Malignant hyperthermia of anesthesia
Neuromuscular disease, congenital, with uniform type 1 fiber
Central core myopathy
Multiminicore myopathy
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA069555 rs_199813873

5 SubmittersRCV000262130RCV000311415RCV000368469RCV000397588RCV000872671RCV003995869RCV004584674
NM_000540.3(RYR1):c.8082G>A (p.Glu2694=) SNV
Germline		 Chr19:38504762 Conflicting classifications of pathogenicity Multiminicore myopathy
Central core myopathy
Malignant hyperthermia of anesthesia
Neuromuscular disease, congenital, with uniform type 1 fiber
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA071465 rs_745619519

3 SubmittersRCV000285086RCV000339139RCV000344865RCV000379609RCV000655606RCV003995870
NM_000540.3(RYR1):c.7053T>C (p.Asn2351=) SNV
Germline		 Chr19:38499660 Conflicting classifications of pathogenicity Neuromuscular disease, congenital, with uniform type 1 fiber
Multiminicore myopathy
Malignant hyperthermia of anesthesia
Central core myopathy
RYR1-related disorder		 Criteria Provided
Conflicting Classifications
 CA069079 rs_748167551

2 SubmittersRCV000282587RCV000298057RCV000337664RCV000405178RCV000878714
NM_000540.3(RYR1):c.12084G>T (p.Ser4028=) SNV
Germline		 Chr19:38546516 Conflicting classifications of pathogenicity Malignant hyperthermia of anesthesia
Neuromuscular disease, congenital, with uniform type 1 fiber
Central core myopathy
Multiminicore myopathy
RYR1-related disorder		 Criteria Provided
Conflicting Classifications
 CA10652422 rs_571477269

2 SubmittersRCV000287574RCV000344848RCV000378552RCV000384274RCV003757173
NM_000540.3(RYR1):c.3877C>A (p.Pro1293Thr) SNV
Germline		 Chr19:38473488 Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Centronuclear myopathy
Multiminicore myopathy
RYR1-related disorder
Condition: not provided
Malignant hyperthermia, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA065302 rs_146407179

6 SubmittersRCV000509349RCV001223356RCV001703183RCV004003564
NM_000540.3(RYR1):c.6274+1G>A SNV
Germline		 Chr19:38492637 Conflicting classifications of pathogenicity RYR1-related disorder
Multiminicore myopathy
Condition: not provided
Malignant hyperthermia, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA405662693 rs_1226228092

7 SubmittersRCV000525713RCV000853333RCV000721603RCV004802184
NM_001267550.2(TTN):c.85818T>A (p.Tyr28606Ter) SNV
Germline		 Chr2:178560314 Pathogenic Multiminicore myopathy Criteria Provided
Single Submitter
 rs_1703164675

1 SubmittersRCV001260953