RYR1 Chromosome 19

Ryanodine receptor 1

1315 variants 24 Drug Response 1291 Health Risk

Upload your DNA to see your personal genotypes for variants in RYR1.

What This Gene Does

This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Gene Info

Gene Group

"Ryanodine receptors|Protein phosphatase 1 regulatory subunits"

Locus Type

gene with protein product

Location

19q13.2

Ensembl

ENSG00000196218

Associated Conditions (74)

Central core myopathy

RYR1-related disorder

King Denborough syndrome

desflurane response - Toxicity

halothane response - Toxicity

enflurane response - Toxicity

isoflurane response - Toxicity

methoxyflurane response - Toxicity

sevoflurane response - Toxicity

succinylcholine response - Toxicity

RYR1-related myopathy

Malignant hyperthermia

susceptibility to

Congenital multicore myopathy with external ophthalmoplegia

Malignant hyperthermia of anesthesia

Congenital myopathy with fiber type disproportion

Inborn genetic diseases

Congenital myopathy

Myopathy

+54 more conditions

Key Variants

RS118192124

Likely pathogenic; drug response

Central core myopathy, RYR1-related disorder, King Denborough syndrome

Drug Response

RS121918596

Likely pathogenic; drug response

Malignant hyperthermia, susceptibility to, 1

Drug Response

RS193922748

Likely pathogenic; drug response

Drug Response

RS193922762

Likely pathogenic; drug response

Malignant hyperthermia, susceptibility to, 1

Drug Response

RS193922770

Likely pathogenic; drug response

Drug Response

RS193922818

Likely pathogenic; drug response

Drug Response

RS193922832

Likely pathogenic; drug response

Drug Response

RS193922876

Likely pathogenic; drug response

desflurane response - Toxicity, enflurane response - Toxicity, succinylcholine response - Toxicity

Drug Response

RS193922878

Likely pathogenic; drug response

desflurane response - Toxicity, halothane response - Toxicity, isoflurane response - Toxicity

Drug Response

RS28933397

Likely pathogenic; drug response

Malignant hyperthermia, susceptibility to, 1

Drug Response

RS118192122

Pathogenic; drug response

Central core myopathy, Malignant hyperthermia, susceptibility to

Drug Response

RS118192161

Pathogenic; drug response

Malignant hyperthermia, susceptibility to, 1

Drug Response

All Variants (1315)

RSID	Category	Clinical Significance	Conditions
RS867630021	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS867851900	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, RYR1-related disorder
RS878854365	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia
RS878854375	Health Risk	Conflicting classifications of pathogenicity	Central core myopathy, Central core myopathy
RS879058545	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS886038331	Health Risk	Conflicting classifications of pathogenicity	Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS886041380	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia
RS886042146	Health Risk	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1
RS886044196	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS886054385	Health Risk	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia, susceptibility to
RS886054388	Health Risk	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1
RS886054395	Health Risk	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia, susceptibility to
RS886054402	Health Risk	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia, Central core myopathy, Malignant hyperthermia
RS886054405	Health Risk	Conflicting classifications of pathogenicity	Central core myopathy, Malignant hyperthermia, susceptibility to
RS886054410	Health Risk	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia, susceptibility to
RS886054411	Health Risk	Conflicting classifications of pathogenicity	Central core myopathy, Malignant hyperthermia, susceptibility to
RS887506743	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS892282118	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS896569937	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, RYR1-related disorder
RS907198537	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS913794924	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS915321867	Health Risk	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia, Central core myopathy, Malignant hyperthermia
RS915594077	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Centronuclear myopathy, RYR1-related disorder
RS918526484	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS919322708	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, RYR1-related myopathy, Malignant hyperthermia
RS920135778	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS927675372	Health Risk	Conflicting classifications of pathogenicity	Central core myopathy, RYR1-related disorder, Congenital myopathy with fiber type disproportion
RS928989953	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, King Denborough syndrome, Congenital multicore myopathy with external ophthalmoplegia
RS946992657	Health Risk	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1
RS951057994	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS957481378	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, RYR1-related disorder
RS978688752	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS978984063	Health Risk	Conflicting classifications of pathogenicity	Central core myopathy, Malignant hyperthermia, susceptibility to
RS982271145	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, RYR1-related disorder
RS989350448	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1027596623	Health Risk	Likely pathogenic	Central core myopathy, Central core myopathy
RS1057517909	Health Risk	Likely pathogenic	RYR1-related disorder, RYR1-related disorder
RS1057519173	Health Risk	Likely pathogenic	—
RS1057524858	Health Risk	Likely pathogenic	RYR1-related disorder, Central core myopathy, Congenital myopathy with fiber type disproportion
RS1064793254	Health Risk	Likely pathogenic	—
RS1064794313	Health Risk	Likely pathogenic	RYR1-related disorder, RYR1-related myopathy, RYR1-related disorder
RS1064794845	Health Risk	Likely pathogenic	—
RS1085307909	Health Risk	Likely pathogenic	—
RS111694258	Health Risk	Likely pathogenic	RYR1-related disorder, RYR1-related disorder
RS111888148	Health Risk	Likely pathogenic	Malignant hyperthermia, susceptibility to, 1
RS112196644	Health Risk	Likely pathogenic	Malignant hyperthermia of anesthesia, Malignant hyperthermia of anesthesia
RS112563513	Health Risk	Likely pathogenic	RYR1-related disorder, halothane response - Toxicity, methoxyflurane response - Toxicity
RS113100043	Health Risk	Likely pathogenic	RYR1-related disorder, RYR1-related disorder
RS1131691876	Health Risk	Likely pathogenic	—
RS113379223	Health Risk	Likely pathogenic	RYR1-related myopathy, RYR1-related myopathy

« Prev 1 ... 12 13 14 15 16 17 18 ... 27 Next »