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
RS763259167	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, RYR1-related disorder
RS763353979	Health Risk	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1
RS763413580	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia, RYR1-related disorder
RS763655831	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS763722972	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS763905757	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS763944786	Health Risk	Conflicting classifications of pathogenicity	Delayed gross motor development, Scoliosis, Pelvic girdle muscle weakness
RS763954439	Health Risk	Conflicting classifications of pathogenicity	Central core myopathy, Malignant hyperthermia, susceptibility to
RS764290955	Health Risk	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia, Central core myopathy, Malignant hyperthermia
RS764395582	Health Risk	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1
RS764527957	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS764655128	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS76537615	Health Risk	Conflicting classifications of pathogenicity	Malignant hypothermia, RYR1-related disorder, Malignant hyperthermia
RS765570755	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS765657226	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS765921831	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS766407858	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS766518951	Health Risk	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1
RS766560974	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS766633897	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS766836202	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS767024764	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS767107632	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS767343838	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, RYR1-related disorder
RS767400168	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS767508472	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS767667578	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS767711818	Health Risk	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia, susceptibility to
RS767777113	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, RYR1-related disorder
RS767805554	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia
RS767928113	Health Risk	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1
RS768008924	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS768070268	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, RYR1-related disorder
RS768275402	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS768611849	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS768702294	Health Risk	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia, susceptibility to
RS769096297	Health Risk	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1
RS769196275	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS769377982	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS769744438	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS770132934	Health Risk	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1
RS770698609	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Central core myopathy, Malignant hyperthermia
RS770942162	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS771306571	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS771523641	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS771629253	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS772003357	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS772116480	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS772422894	Health Risk	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1
RS772518280	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, RYR1-related disorder

« Prev 1 ... 10 11 12 13 14 15 16 ... 27 Next »