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Gene entry

RYR1

ryanodine receptor 1

Chromosome
19
Cytoband
19q13.2
Variants (rsID)
263

RYR1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 19 (region 19q13.2). Its official name is “ryanodine receptor 1”. The reference table lists 263 variants (rsID) for this gene.

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Clinically classified variants

236 reference-table entries with clinical significance (first 200 shown).

  • rs11083462Benignsingle nucleotide variantCentral core myopathy|Congenital multicore myopathy with external ophthalmoplegia|Malignant hyperthermia, susceptibility to, 1|Neuromuscular disease, congenital, with uniform type 1 fiber|RYR1-Related Disorders
  • rs139363830Benignsingle nucleotide variantCentral core myopathy|Neuromuscular disease, congenital, with uniform type 1 fiber|Congenital multicore myopathy with external ophthalmoplegia|Malignant hyperthermia, susceptibility to, 1|RYR1-Related Disorders
  • rs144157950Benignsingle nucleotide variantMalignant hyperthermia, susceptibility to, 1|Malignant hypothermia|Neuromuscular disease, congenital, with uniform type 1 fiber|Congenital multicore myopathy with external ophthalmoplegia|Central core myopathy|RYR1-Related Disorders
  • rs147336515Benignsingle nucleotide variantCongenital myopathy|Congenital multicore myopathy with external ophthalmoplegia|Neuromuscular disease, congenital, with uniform type 1 fiber|Central core myopathy|Malignant hyperthermia, susceptibility to, 1|RYR1-Related Disorders
  • rs148772854Benignsingle nucleotide variantCongenital multicore myopathy with external ophthalmoplegia|Neuromuscular disease, congenital, with uniform type 1 fiber|Malignant hyperthermia, susceptibility to, 1|Central core myopathy|RYR1-Related Disorders
  • rs150388417Benignsingle nucleotide variantMalignant hyperthermia, susceptibility to, 1|Central core myopathy|Congenital multicore myopathy with external ophthalmoplegia|Neuromuscular disease, congenital, with uniform type 1 fiber|RYR1-Related Disorders
  • rs150396398Benignsingle nucleotide variantMyopathy, progressive axial with cataracts|Malignant hyperthermia, susceptibility to, 1|Malignant hyperthermia of anesthesia|EMG: myopathic abnormalities|Generalized muscle weakness|Congenital muscular dystrophy|Congenital dislocation of hip|RYR1-Related Disorders
  • rs192863857Benignsingle nucleotide variantMalignant hyperthermia, susceptibility to, 1|Neuromuscular disease, congenital, with uniform type 1 fiber|Central core myopathy|Congenital multicore myopathy with external ophthalmoplegia|RYR1-Related Disorders
  • rs2960337Benignsingle nucleotide variant
  • rs34390345Benignsingle nucleotide variantMalignant hyperthermia, susceptibility to, 1|Neuromuscular disease, congenital, with uniform type 1 fiber|Congenital multicore myopathy with external ophthalmoplegia|Central core myopathy|RYR1-Related Disorders
  • rs35364374Benignsingle nucleotide variantCentral core myopathy|Malignant hyperthermia, susceptibility to, 1|Congenital multicore myopathy with external ophthalmoplegia|Neuromuscular disease, congenital, with uniform type 1 fiber|RYR1-Related Disorders
  • rs375709463Benignsingle nucleotide variantNeuromuscular disease, congenital, with uniform type 1 fiber|Multiminicore myopathy|Malignant hyperthermia of anesthesia|Central core myopathy|RYR1-Related Disorders
  • rs45585535Benignsingle nucleotide variantNeuromuscular disease, congenital, with uniform type 1 fiber|Central core myopathy|Congenital multicore myopathy with external ophthalmoplegia|Malignant hyperthermia, susceptibility to, 1|RYR1-Related Disorders
  • rs57132842Benignsingle nucleotide variant
  • rs919781Benignsingle nucleotide variant
  • rs1057518970Conflicting interpretationssingle nucleotide variantCongenital muscular dystrophy|Respiratory insufficiency|Myopathy
  • rs114975624Conflicting interpretationssingle nucleotide variantCongenital multicore myopathy with external ophthalmoplegia|Malignant hyperthermia, susceptibility to, 1|Central core myopathy|Neuromuscular disease, congenital, with uniform type 1 fiber|RYR1-Related Disorders
  • rs118126378Conflicting interpretationssingle nucleotide variantMalignant hyperthermia, susceptibility to, 1|Congenital multicore myopathy with external ophthalmoplegia|Central core myopathy|Neuromuscular disease, congenital, with uniform type 1 fiber|RYR1-Related Disorders
  • rs118192153Conflicting interpretationssingle nucleotide variantCentral core myopathy
  • rs118192179Conflicting interpretationssingle nucleotide variantCentral core myopathy|RYR1-Related Disorders
  • rs138630815Conflicting interpretationssingle nucleotide variantRYR1-Related Disorders
  • rs138704724Conflicting interpretationssingle nucleotide variantCentral core myopathy|Congenital multicore myopathy with external ophthalmoplegia|Malignant hyperthermia, susceptibility to, 1|Neuromuscular disease, congenital, with uniform type 1 fiber|RYR1-Related Disorders
  • rs140689610Conflicting interpretationssingle nucleotide variantCentral core myopathy|Malignant hyperthermia, susceptibility to, 1|Congenital multicore myopathy with external ophthalmoplegia|Neuromuscular disease, congenital, with uniform type 1 fiber|RYR1-Related Disorders
  • rs142558977Conflicting interpretationssingle nucleotide variantMalignant hyperthermia, susceptibility to, 1|Congenital multicore myopathy with external ophthalmoplegia|Central core myopathy|Neuromuscular disease, congenital, with uniform type 1 fiber|RYR1-Related Disorders
  • rs145088074Conflicting interpretationssingle nucleotide variantCentral core myopathy|RYR1-Related Disorders
  • rs146104858Conflicting interpretationssingle nucleotide variantCentral core myopathy|Neuromuscular disease, congenital, with uniform type 1 fiber|Malignant hyperthermia, susceptibility to, 1|Congenital multicore myopathy with external ophthalmoplegia|RYR1-Related Disorders
  • rs147012990Conflicting interpretationssingle nucleotide variantMalignant hyperthermia, susceptibility to, 1|Congenital multicore myopathy with external ophthalmoplegia|Neuromuscular disease, congenital, with uniform type 1 fiber|Central core myopathy|RYR1-Related Disorders
  • rs147136339Conflicting interpretationssingle nucleotide variantMalignant hyperthermia, susceptibility to, 1|RYR1-Related Disorders|Congenital myopathy with fiber type disproportion|Central core myopathy|Congenital multicore myopathy with external ophthalmoplegia|Malignant hyperthermia, susceptibility to, 1|Central core myopathy|See cases
  • rs150993059Conflicting interpretationssingle nucleotide variantCongenital myopathy|Malignant hyperthermia, susceptibility to, 1|RYR1-Related Disorders
  • rs191656849Conflicting interpretationssingle nucleotide variantNeuromuscular disease, congenital, with uniform type 1 fiber|Congenital multicore myopathy with external ophthalmoplegia|Central core myopathy|Malignant hyperthermia, susceptibility to, 1|RYR1-Related Disorders
  • rs192495718Conflicting interpretationssingle nucleotide variantNeuromuscular disease, congenital, with uniform type 1 fiber|Malignant hyperthermia, susceptibility to, 1|Central core myopathy|Congenital multicore myopathy with external ophthalmoplegia|RYR1-Related Disorders
  • rs200069592Conflicting interpretationssingle nucleotide variantMalignant hypothermia|RYR1-Related Disorders
  • rs200546266Conflicting interpretationssingle nucleotide variantCongenital myopathy|RYR1-Related Disorders|Fetal akinesia deformation sequence 1|Arthrogryposis multiplex congenita|Congenital myopathy with fiber type disproportion
  • rs200600174Conflicting interpretationssingle nucleotide variantCongenital multicore myopathy with external ophthalmoplegia|Central core myopathy|Malignant hyperthermia, susceptibility to, 1|Neuromuscular disease, congenital, with uniform type 1 fiber|RYR1-Related Disorders
  • rs200780880Conflicting interpretationssingle nucleotide variantMultiminicore myopathy|Malignant hyperthermia of anesthesia|Central core myopathy|Neuromuscular disease, congenital, with uniform type 1 fiber|RYR1-Related Disorders
  • rs200950362Conflicting interpretationssingle nucleotide variantRYR1-Related Disorders
  • rs200950673Conflicting interpretationssingle nucleotide variantAxial myopathy, late-onset|Malignant hyperthermia of anesthesia|Central core myopathy|Multiminicore myopathy|Neuromuscular disease, congenital, with uniform type 1 fiber|Malignant hyperthermia, susceptibility to, 1|RYR1-Related Disorders
  • rs201599911Conflicting interpretationssingle nucleotide variantCongenital multicore myopathy with external ophthalmoplegia|Malignant hyperthermia, susceptibility to, 1|Neuromuscular disease, congenital, with uniform type 1 fiber|Central core myopathy|RYR1-Related Disorders
  • rs201679831Conflicting interpretationssingle nucleotide variantMalignant hypothermia|Malignant hyperthermia, susceptibility to, 1|Congenital multicore myopathy with external ophthalmoplegia|Neuromuscular disease, congenital, with uniform type 1 fiber|Central core myopathy|RYR1-Related Disorders
  • rs202160739Conflicting interpretationssingle nucleotide variantRYR1-Related Disorders
  • rs367543058Conflicting interpretationssingle nucleotide variantCongenital myopathy with fiber type disproportion|Central core myopathy|RYR1-Related Disorders
  • rs368108496Conflicting interpretationssingle nucleotide variantMalignant hyperthermia of anesthesia|Neuromuscular disease, congenital, with uniform type 1 fiber|Multiminicore myopathy|Central core myopathy|RYR1-Related Disorders
  • rs368874586Conflicting interpretationssingle nucleotide variantInborn genetic diseases|RYR1-Related Disorders|Central core myopathy|Malignant hyperthermia of anesthesia
  • rs369466056Conflicting interpretationssingle nucleotide variantMalignant hyperthermia, susceptibility to, 1|Neuromuscular disease, congenital, with uniform type 1 fiber|Central core myopathy|Congenital multicore myopathy with external ophthalmoplegia|RYR1-Related Disorders
  • rs3745845Conflicting interpretationssingle nucleotide variantCongenital multicore myopathy with external ophthalmoplegia|Central core myopathy|Malignant hyperthermia, susceptibility to, 1|Neuromuscular disease, congenital, with uniform type 1 fiber|RYR1-Related Disorders
  • rs374924686Conflicting interpretationssingle nucleotide variantCentral core myopathy|Congenital multicore myopathy with external ophthalmoplegia|Neuromuscular disease, congenital, with uniform type 1 fiber|Malignant hyperthermia, susceptibility to, 1|RYR1-Related Disorders
  • rs398123470Conflicting interpretationssingle nucleotide variant
  • rs536304635Conflicting interpretationssingle nucleotide variantCongenital multicore myopathy with external ophthalmoplegia|Neuromuscular disease, congenital, with uniform type 1 fiber|Malignant hyperthermia, susceptibility to, 1|Central core myopathy|RYR1-Related Disorders|Inborn genetic diseases
  • rs587784379Conflicting interpretationssingle nucleotide variantFetal akinesia deformation sequence 1|Arthrogryposis multiplex congenita|RYR1-Related Disorders|Central core myopathy
  • rs61739895Conflicting interpretationssingle nucleotide variantNeuromuscular disease, congenital, with uniform type 1 fiber|Central core myopathy|Multiminicore myopathy|Malignant hyperthermia of anesthesia|RYR1-Related Disorders
  • rs61739911Conflicting interpretationssingle nucleotide variantMalignant hyperthermia, susceptibility to, 1|Congenital multicore myopathy with external ophthalmoplegia|Central core myopathy|Neuromuscular disease, congenital, with uniform type 1 fiber|RYR1-Related Disorders
  • rs756138074Conflicting interpretationssingle nucleotide variantInborn genetic diseases|RYR1-Related Disorders
  • rs763944786Conflicting interpretationssingle nucleotide variantScoliosis|Progressive distal muscle weakness|Delayed gross motor development|Pelvic girdle muscle weakness|Proximal muscle weakness|RYR1-Related Disorders
  • rs76537615Conflicting interpretationssingle nucleotide variantMalignant hypothermia|Multiminicore myopathy|Central core myopathy|Malignant hyperthermia of anesthesia|Neuromuscular disease, congenital, with uniform type 1 fiber|RYR1-Related Disorders
  • rs767777113Conflicting interpretationssingle nucleotide variant
  • rs768008924Conflicting interpretationssingle nucleotide variantRYR1-Related Disorders
  • rs773080803Conflicting interpretationssingle nucleotide variantCongenital multicore myopathy with external ophthalmoplegia|Neuromuscular disease, congenital, with uniform type 1 fiber|Central core myopathy|Malignant hyperthermia, susceptibility to, 1|RYR1-Related Disorders
  • rs774666035Conflicting interpretationssingle nucleotide variantCentral core myopathy|Multiminicore myopathy|Malignant hyperthermia of anesthesia|Neuromuscular disease, congenital, with uniform type 1 fiber|RYR1-Related Disorders
  • rs878854375Conflicting interpretationssingle nucleotide variantCentral core myopathy
  • rs886039586Conflicting interpretationssingle nucleotide variantRYR1-Related Disorders|Abnormality of the musculature
  • rs118192116Drug responsesingle nucleotide variantCentral core myopathy|succinylcholine response - Toxicity|desflurane response - Toxicity|enflurane response - Toxicity|isoflurane response - Toxicity|sevoflurane response - Toxicity|halothane response - Toxicity|methoxyflurane response - Toxicity
  • rs118192167Drug responsesingle nucleotide variantCentral core myopathy|Malignant hyperthermia, susceptibility to, 1|RYR1-Related Disorders|enflurane response - Toxicity|halothane response - Toxicity|isoflurane response - Toxicity|methoxyflurane response - Toxicity|sevoflurane response - Toxicity|succinylcholine response - Toxicity|desflurane response - Toxicity
  • rs118192168Drug responsesingle nucleotide variantCongenital multicore myopathy with external ophthalmoplegia|Central core disease, autosomal recessive|Malignant hyperthermia, susceptibility to, 1|RYR1-Related Disorders|enflurane response - Toxicity|halothane response - Toxicity|isoflurane response - Toxicity|methoxyflurane response - Toxicity|desflurane response - Toxicity|sevoflurane response - Toxicity|succinylcholine response - Toxicity|See cases
  • rs118192170Drug responsesingle nucleotide variantCentral core myopathy|Malignant hyperthermia, susceptibility to, 1|RYR1-Related Disorders|Congenital myopathy with fiber type disproportion|Malignant hyperthermia, susceptibility to, 1|Central core myopathy|Congenital multicore myopathy with external ophthalmoplegia|desflurane response - Toxicity|succinylcholine response - Toxicity|halothane response - Toxicity|methoxyflurane response - Toxicity|enflurane response - Toxicity|isoflurane response - Toxicity|sevoflurane response - Toxicity
  • rs121918594Drug responsesingle nucleotide variantMalignant hyperthermia, susceptibility to, 1|RYR1-Related Disorders|halothane response - Toxicity|isoflurane response - Toxicity|methoxyflurane response - Toxicity|sevoflurane response - Toxicity|desflurane response - Toxicity|enflurane response - Toxicity|succinylcholine response - Toxicity
  • rs63749869Drug responsesingle nucleotide variantCentral core myopathy|Neuromuscular disease, congenital, with uniform type 1 fiber|RYR1-Related Disorders|Malignant hyperthermia, susceptibility to, 1|isoflurane response - Toxicity|methoxyflurane response - Toxicity|sevoflurane response - Toxicity|succinylcholine response - Toxicity|enflurane response - Toxicity|desflurane response - Toxicity|halothane response - Toxicity
  • rs118192126Likely benignsingle nucleotide variantCentral core myopathy|Malignant hyperthermia, susceptibility to, 1
  • rs142474192Likely benignsingle nucleotide variantRYR1-Related Disorders|Malignant hyperthermia, susceptibility to, 1
  • rs143987857Likely benignsingle nucleotide variantCentral core myopathy|Malignant hyperthermia, susceptibility to, 1|RYR1-Related Disorders|Malignant hyperthermia of anesthesia
  • rs146429605Likely benignsingle nucleotide variantMalignant hyperthermia, susceptibility to, 1|RYR1-Related Disorders|Central core myopathy|Congenital multicore myopathy with external ophthalmoplegia|Congenital myopathy with fiber type disproportion|Malignant hyperthermia, susceptibility to, 1|Central core myopathy|See cases
  • rs146504767Likely benignsingle nucleotide variantMalignant hyperthermia, susceptibility to, 1|Congenital multicore myopathy with external ophthalmoplegia|Central core myopathy|Neuromuscular disease, congenital, with uniform type 1 fiber|RYR1-Related Disorders|Malignant hyperthermia of anesthesia
  • rs147213895Likely benignsingle nucleotide variantMalignant hyperthermia, susceptibility to, 1|Malignant hyperthermia of anesthesia|RYR1-Related Disorders|Congenital myopathy with fiber type disproportion|Central core myopathy|Congenital multicore myopathy with external ophthalmoplegia|Malignant hyperthermia, susceptibility to, 1
  • rs147707463Likely benignsingle nucleotide variantMalignant hyperthermia, susceptibility to, 1|Congenital multicore myopathy with external ophthalmoplegia|Neuromuscular disease, congenital, with uniform type 1 fiber|Central core myopathy|RYR1-Related Disorders
  • rs200355885Likely benignsingle nucleotide variantCentral core myopathy|Malignant hyperthermia of anesthesia|Neuromuscular disease, congenital, with uniform type 1 fiber|Multiminicore myopathy|RYR1-Related Disorders
  • rs1057517909Likely pathogenicsingle nucleotide variant
  • rs1057519173Likely pathogenicsingle nucleotide variant
  • rs1057523844Likely pathogenicsingle nucleotide variant
  • rs1057524858Likely pathogenicsingle nucleotide variantRYR1-Related Disorders
  • rs1064793254Likely pathogenicDeletion
  • rs1064794845Likely pathogenicDeletion
  • rs1064797243Likely pathogenicsingle nucleotide variant
  • rs113379223Likely pathogenicsingle nucleotide variant
  • rs113460156Likely pathogenicsingle nucleotide variantHypotonia
  • rs118192123Likely pathogenicsingle nucleotide variantCentral core myopathy|RYR1-Related Disorders|Malignant hyperthermia, susceptibility to, 1
  • rs118192124Likely pathogenicsingle nucleotide variantCentral core myopathy|RYR1-Related Disorders|enflurane response - Toxicity|isoflurane response - Toxicity|methoxyflurane response - Toxicity|sevoflurane response - Toxicity|succinylcholine response - Toxicity|King Denborough syndrome|desflurane response - Toxicity|halothane response - Toxicity|RYR1-related myopathy|Malignant hyperthermia, susceptibility to, 1
  • rs118192131Likely pathogenicsingle nucleotide variantCentral core myopathy|RYR1-Related Disorders
  • rs118192136Likely pathogenicsingle nucleotide variantCentral core myopathy|RYR1-Related Disorders
  • rs118192138Likely pathogenicsingle nucleotide variantCentral core myopathy|RYR1-Related Disorders
  • rs118192147Likely pathogenicsingle nucleotide variantCentral core myopathy
  • rs118192156Likely pathogenicsingle nucleotide variantCentral core myopathy|RYR1-Related Disorders
  • rs142929172Likely pathogenicsingle nucleotide variantRYR1-Related Disorders
  • rs148399313Likely pathogenicsingle nucleotide variantRYR1-Related Disorders|Malignant hyperthermia, susceptibility to, 1
  • rs1801086Likely pathogenicsingle nucleotide variantMalignant hyperthermia, susceptibility to, 1|RYR1-Related Disorders
  • rs193922746Likely pathogenicsingle nucleotide variantKing Denborough syndrome|Malignant hyperthermia, susceptibility to, 1
  • rs193922753Likely pathogenicsingle nucleotide variantMalignant hyperthermia, susceptibility to, 1
  • rs193922770Likely pathogenicsingle nucleotide variantRYR1-Related Disorders|enflurane response - Toxicity|isoflurane response - Toxicity|desflurane response - Toxicity|halothane response - Toxicity|methoxyflurane response - Toxicity|sevoflurane response - Toxicity|succinylcholine response - Toxicity|Malignant hyperthermia, susceptibility to, 1
  • rs193922801Likely pathogenicsingle nucleotide variantMalignant hyperthermia, susceptibility to, 1
  • rs193922809Likely pathogenicsingle nucleotide variantMalignant hyperthermia, susceptibility to, 1|Congenital multicore myopathy with external ophthalmoplegia|Central core myopathy|RYR1-Related Disorders|desflurane response - Toxicity|halothane response - Toxicity|enflurane response - Toxicity|isoflurane response - Toxicity|methoxyflurane response - Toxicity|sevoflurane response - Toxicity|succinylcholine response - Toxicity
  • rs193922818Likely pathogenicsingle nucleotide variantRYR1-Related Disorders|Malignant hyperthermia, susceptibility to, 1|methoxyflurane response - Toxicity|succinylcholine response - Toxicity|isoflurane response - Toxicity|sevoflurane response - Toxicity|desflurane response - Toxicity|enflurane response - Toxicity|halothane response - Toxicity
  • rs193922832Likely pathogenicsingle nucleotide variantRYR1-Related Disorders|methoxyflurane response - Toxicity|succinylcholine response - Toxicity|desflurane response - Toxicity|enflurane response - Toxicity|halothane response - Toxicity|isoflurane response - Toxicity|sevoflurane response - Toxicity|Malignant hyperthermia, susceptibility to, 1
  • rs193922839Likely pathogenicsingle nucleotide variantPelvic girdle muscle weakness|Progressive distal muscle weakness|Proximal muscle weakness|Scoliosis|Delayed gross motor development|Malignant hyperthermia of anesthesia|Neuromuscular disease|RYR1-Related Disorders|Malignant hyperthermia, susceptibility to, 1
  • rs193922867Likely pathogenicsingle nucleotide variantRYR1-Related Disorders|Malignant hyperthermia of anesthesia
  • rs193922868Likely pathogenicsingle nucleotide variantRYR1-Related Disorders|Malignant hyperthermia of anesthesia
  • rs193922876Likely pathogenicsingle nucleotide variantenflurane response - Toxicity|succinylcholine response - Toxicity|desflurane response - Toxicity|halothane response - Toxicity|isoflurane response - Toxicity|methoxyflurane response - Toxicity|sevoflurane response - Toxicity|Malignant hyperthermia, susceptibility to, 1
  • rs193922878Likely pathogenicsingle nucleotide variantenflurane response - Toxicity|desflurane response - Toxicity|halothane response - Toxicity|isoflurane response - Toxicity|methoxyflurane response - Toxicity|sevoflurane response - Toxicity|succinylcholine response - Toxicity|Malignant hyperthermia, susceptibility to, 1
  • rs28933397Likely pathogenicsingle nucleotide variantMalignant hyperthermia, susceptibility to, 1|Malignant hyperthermia of anesthesia|RYR1-Related Disorders|desflurane response - Toxicity|enflurane response - Toxicity|halothane response - Toxicity|isoflurane response - Toxicity|sevoflurane response - Toxicity|methoxyflurane response - Toxicity|succinylcholine response - Toxicity
  • rs760010175Likely pathogenicsingle nucleotide variant
  • rs763146574Likely pathogenicsingle nucleotide variant
  • rs774919231Likely pathogenicsingle nucleotide variantCongenital muscular dystrophy|Respiratory insufficiency|Myopathy
  • rs1057518773Pathogenicsingle nucleotide variantMyopathy|RYR1-Related Disorders
  • rs1057518885Pathogenicsingle nucleotide variantRYR1-Related Disorders|Malignant hyperthermia of anesthesia
  • rs1057518940Pathogenicsingle nucleotide variantCongenital contracture|Proximal amyotrophy|Short stature|Delayed gross motor development|Congenital myopathy with fiber type disproportion|RYR1-Related Disorders
  • rs1057520711Pathogenicsingle nucleotide variant
  • rs1064793717Pathogenicsingle nucleotide variant
  • rs1064793932Pathogenicsingle nucleotide variantRYR1-Related Disorders
  • rs111436401Pathogenicsingle nucleotide variantInborn genetic diseases|RYR1-Related Disorders|Congenital myopathy with fiber type disproportion|Central core myopathy|Malignant hyperthermia, susceptibility to, 1|Congenital multicore myopathy with external ophthalmoplegia|Congenital multicore myopathy with external ophthalmoplegia|Malignant hyperthermia, susceptibility to, 1
  • rs112563513Pathogenicsingle nucleotide variantRYR1-Related Disorders|isoflurane response - Toxicity|sevoflurane response - Toxicity|halothane response - Toxicity|methoxyflurane response - Toxicity|succinylcholine response - Toxicity|desflurane response - Toxicity|enflurane response - Toxicity|Malignant hyperthermia of anesthesia|Malignant hyperthermia, susceptibility to, 1
  • rs113928116Pathogenicsingle nucleotide variantRYR1-Related Disorders
  • rs1169938399Pathogenicsingle nucleotide variantRYR1-Related Disorders
  • rs118192115Pathogenicsingle nucleotide variantCentral core myopathy
  • rs118192117Pathogenicsingle nucleotide variantCongenital myopathy with fiber type disproportion|Central core myopathy
  • rs118192118Pathogenicsingle nucleotide variantCentral core myopathy
  • rs118192122Pathogenicsingle nucleotide variantCentral core myopathy|RYR1-Related Disorders|Malignant hyperthermia, susceptibility to, 1|enflurane response - Toxicity|isoflurane response - Toxicity|desflurane response - Toxicity|sevoflurane response - Toxicity|succinylcholine response - Toxicity|halothane response - Toxicity|methoxyflurane response - Toxicity
  • rs118192125Pathogenicsingle nucleotide variantCentral core myopathy|RYR1-Related Disorders
  • rs118192127Pathogenicsingle nucleotide variantCentral core myopathy
  • rs118192132Pathogenicsingle nucleotide variantCentral core myopathy
  • rs118192133Pathogenicsingle nucleotide variantCentral core myopathy
  • rs118192134Pathogenicsingle nucleotide variantCentral core myopathy|RYR1-Related Disorders
  • rs118192139Pathogenicsingle nucleotide variantCentral core myopathy
  • rs118192141Pathogenicsingle nucleotide variantCentral core myopathy
  • rs118192142Pathogenicsingle nucleotide variantCentral core myopathy
  • rs118192143Pathogenicsingle nucleotide variantCentral core myopathy|RYR1-Related Disorders
  • rs118192144Pathogenicsingle nucleotide variantCentral core myopathy
  • rs118192146Pathogenicsingle nucleotide variantCentral core myopathy
  • rs118192148Pathogenicsingle nucleotide variantCentral core myopathy
  • rs118192149Pathogenicsingle nucleotide variantCentral core myopathy
  • rs118192150Pathogenicsingle nucleotide variantCentral core myopathy|RYR1-Related Disorders
  • rs118192151Pathogenicsingle nucleotide variantCentral core myopathy
  • rs118192154Pathogenicsingle nucleotide variantCentral core myopathy
  • rs118192155Pathogenicsingle nucleotide variantCentral core myopathy
  • rs118192161Pathogenicsingle nucleotide variantMalignant hyperthermia, susceptibility to, 1|Central core myopathy|RYR1-Related Disorders|sevoflurane response - Toxicity|succinylcholine response - Toxicity|enflurane response - Toxicity|isoflurane response - Toxicity|desflurane response - Toxicity|halothane response - Toxicity|methoxyflurane response - Toxicity
  • rs118192163Pathogenicsingle nucleotide variantMalignant hyperthermia, susceptibility to, 1|Central core myopathy|RYR1-Related Disorders|methoxyflurane response - Toxicity|sevoflurane response - Toxicity|succinylcholine response - Toxicity|desflurane response - Toxicity|halothane response - Toxicity|enflurane response - Toxicity|isoflurane response - Toxicity
  • rs118192164Pathogenicsingle nucleotide variantCentral core disease, autosomal recessive
  • rs118192166Pathogenicsingle nucleotide variantCentral core myopathy|RYR1-Related Disorders|Malignant hyperthermia of anesthesia
  • rs118192169PathogenicDeletionCentral core myopathy
  • rs118192174Pathogenicsingle nucleotide variantCongenital multicore myopathy with external ophthalmoplegia|Clubfoot|EMG abnormality|Lower limb amyotrophy|Congenital myopathy with fiber type disproportion|RYR1-Related Disorders
  • rs118192175Pathogenicsingle nucleotide variantMalignant hyperthermia, susceptibility to, 1|Central core myopathy|RYR1-Related Disorders|isoflurane response - Toxicity|methoxyflurane response - Toxicity|sevoflurane response - Toxicity|succinylcholine response - Toxicity|desflurane response - Toxicity|halothane response - Toxicity|enflurane response - Toxicity
  • rs118192180Pathogenicsingle nucleotide variantCentral core myopathy|RYR1-Related Disorders
  • rs118192183Pathogenicsingle nucleotide variantCentral core myopathy|RYR1-Related Disorders
  • rs118192184Pathogenicsingle nucleotide variantCentral core myopathy
  • rs1186905126Pathogenicsingle nucleotide variantRYR1-Related Disorders
  • rs121918592Pathogenicsingle nucleotide variantMalignant hyperthermia, susceptibility to, 1|RYR1-Related Disorders
  • rs121918595Pathogenicsingle nucleotide variantMalignant hyperthermia, susceptibility to, 1|desflurane response - Toxicity|enflurane response - Toxicity|halothane response - Toxicity|isoflurane response - Toxicity|methoxyflurane response - Toxicity|succinylcholine response - Toxicity|sevoflurane response - Toxicity
  • rs1226228092Pathogenicsingle nucleotide variantRYR1-Related Disorders|Multiminicore myopathy
  • rs1248355799PathogenicDeletionInborn genetic diseases
  • rs1249942711Pathogenicsingle nucleotide variantRYR1-Related Disorders
  • rs1283302989Pathogenicsingle nucleotide variant
  • rs1346257891Pathogenicsingle nucleotide variantRYR1-Related Disorders|Central core myopathy|Congenital multicore myopathy with external ophthalmoplegia
  • rs1346649518Pathogenicsingle nucleotide variantRYR1-Related Disorders
  • rs1361451153Pathogenicsingle nucleotide variant
  • rs1381186128Pathogenicsingle nucleotide variant
  • rs1432807966Pathogenicsingle nucleotide variantRYR1-Related Disorders|Congenital multicore myopathy with external ophthalmoplegia
  • rs1456276440Pathogenicsingle nucleotide variantCentral core myopathy|RYR1-Related Disorders
  • rs193922747Pathogenicsingle nucleotide variantMalignant hyperthermia, susceptibility to, 1|halothane response - Toxicity|methoxyflurane response - Toxicity|isoflurane response - Toxicity|sevoflurane response - Toxicity|desflurane response - Toxicity|enflurane response - Toxicity|succinylcholine response - Toxicity
  • rs193922757Pathogenicsingle nucleotide variantRYR1-Related Disorders|Malignant hyperthermia, susceptibility to, 1
  • rs193922766Pathogenicsingle nucleotide variantRYR1-Related Disorders|Malignant hyperthermia, susceptibility to, 1
  • rs193922768Pathogenicsingle nucleotide variantRYR1-Related Disorders|Malignant hyperthermia, susceptibility to, 1
  • rs193922771PathogenicDuplicationCongenital multicore myopathy with external ophthalmoplegia
  • rs193922781Pathogenicsingle nucleotide variantMalignant hyperthermia, susceptibility to, 1|RYR1-Related Disorders|Inborn genetic diseases|Malignant hyperthermia of anesthesia
  • rs193922802Pathogenicsingle nucleotide variantMalignant hyperthermia, susceptibility to, 1|RYR1-Related Disorders|sevoflurane response - Toxicity|methoxyflurane response - Toxicity|succinylcholine response - Toxicity|desflurane response - Toxicity|enflurane response - Toxicity|halothane response - Toxicity|isoflurane response - Toxicity
  • rs193922803Pathogenicsingle nucleotide variantCongenital multicore myopathy with external ophthalmoplegia|Congenital myopathy with fiber type disproportion|Central core myopathy|Congenital multicore myopathy with external ophthalmoplegia|Malignant hyperthermia, susceptibility to, 1|RYR1-Related Disorders|desflurane response - Toxicity|enflurane response - Toxicity|halothane response - Toxicity|isoflurane response - Toxicity|succinylcholine response - Toxicity|methoxyflurane response - Toxicity|sevoflurane response - Toxicity|Malignant hyperthermia, susceptibility to, 1
  • rs193922807Pathogenicsingle nucleotide variantdesflurane response - Toxicity|halothane response - Toxicity|enflurane response - Toxicity|isoflurane response - Toxicity|methoxyflurane response - Toxicity|sevoflurane response - Toxicity|succinylcholine response - Toxicity|Malignant hyperthermia, susceptibility to, 1
  • rs193922816Pathogenicsingle nucleotide variantRYR1-Related Disorders|Malignant hyperthermia of anesthesia|Malignant hyperthermia, susceptibility to, 1|halothane response - Toxicity|methoxyflurane response - Toxicity|enflurane response - Toxicity|isoflurane response - Toxicity|desflurane response - Toxicity|sevoflurane response - Toxicity|succinylcholine response - Toxicity
  • rs193922820Pathogenicsingle nucleotide variantCentral core myopathy
  • rs193922836Pathogenicsingle nucleotide variantCongenital multicore myopathy with external ophthalmoplegia
  • rs193922837Pathogenicsingle nucleotide variantRYR1-Related Disorders|Inborn genetic diseases|Congenital myopathy with fiber type disproportion|Central core myopathy|Congenital multicore myopathy with external ophthalmoplegia|Malignant hyperthermia, susceptibility to, 1|King Denborough syndrome|Central core myopathy
  • rs193922843Pathogenicsingle nucleotide variantmethoxyflurane response - Toxicity|succinylcholine response - Toxicity|isoflurane response - Toxicity|sevoflurane response - Toxicity|desflurane response - Toxicity|enflurane response - Toxicity|halothane response - Toxicity|Malignant hyperthermia, susceptibility to, 1
  • rs193922870Pathogenicsingle nucleotide variantCongenital multicore myopathy with external ophthalmoplegia
  • rs193922884Pathogenicsingle nucleotide variantRYR1-Related Disorders|Central core myopathy
  • rs193922886Pathogenicsingle nucleotide variantCongenital multicore myopathy with external ophthalmoplegia
  • rs200563280Pathogenicsingle nucleotide variantMulti-minicore disease and atypical periodic paralysis|Congenital multicore myopathy with external ophthalmoplegia|Malignant hyperthermia, susceptibility to, 1|Central core myopathy|Neuromuscular disease|RYR1-Related Disorders|Hydrops fetalis|Central core myopathy
  • rs377178986Pathogenicsingle nucleotide variantCongenital myopathy|RYR1-Related Disorders|Central core myopathy|Congenital multicore myopathy with external ophthalmoplegia|Congenital myopathy with fiber type disproportion|Malignant hyperthermia, susceptibility to, 1|Malignant hyperthermia, susceptibility to, 1|Inborn genetic diseases|Congenital myopathy with fiber type disproportion
  • rs587784373Pathogenicsingle nucleotide variantRYR1-Related Disorders
  • rs587784376Pathogenicsingle nucleotide variantRYR1-Related Disorders
  • rs754572007PathogenicDeletionRYR1-Related Disorders|Malignant hyperthermia, susceptibility to, 1
  • rs772494345Pathogenicsingle nucleotide variant
  • rs779723153PathogenicDeletionRYR1-Related Disorders
  • rs794727683PathogenicDeletion
  • rs794727982Pathogenicsingle nucleotide variant
  • rs794727984Pathogenicsingle nucleotide variant
  • rs797045931PathogenicDeletionMyopathy
  • rs797045934Pathogenicsingle nucleotide variantMyopathy|RYR1-Related Disorders
  • rs797045935Pathogenicsingle nucleotide variantMyopathy
  • rs876661306PathogenicDeletionCongenital multicore myopathy with external ophthalmoplegia
  • rs886042171PathogenicDeletion
  • rs111272095Uncertain significancesingle nucleotide variantMalignant hyperthermia, susceptibility to, 1|RYR1-Related Disorders
  • rs111888148Uncertain significancesingle nucleotide variantMalignant hyperthermia, susceptibility to, 1|RYR1-Related Disorders|King Denborough syndrome|Malignant hyperthermia of anesthesia
  • rs118192113Uncertain significancesingle nucleotide variantCentral core myopathy|Malignant hyperthermia, susceptibility to, 1
  • rs118192119Uncertain significancesingle nucleotide variantCentral core myopathy|RYR1-Related Disorders
  • rs118192120Uncertain significancesingle nucleotide variantCentral core myopathy|RYR1-Related Disorders

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.