ClinVar Miner

List of variants reported as uncertain significance for RYR1-related myopathy by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (23):

Actin accumulation myopathy; Congenital myopathy with fiber type disproportion; Progressive scapulohumeroperoneal distal myopathy
Arthrogryposis, distal, type 1A; Congenital myopathy 23; Congenital myopathy with fiber type disproportion
Central core myopathy
Central core myopathy; Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome
Central core myopathy; Malignant hyperthermia, susceptibility to, 1
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Multiminicore myopathy
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Multiminicore myopathy; Central core disease, autosomal recessive; Centronuclear myopathy
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Multiminicore myopathy; Myopathy, RYR1-associated
Central core myopathy; Neuromuscular disease
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy 4B, autosomal recessive; Congenital myopathy with fiber type disproportion
Congenital myopathy with fiber type disproportion
Eichsfeld type congenital muscular dystrophy; Congenital myopathy with fiber type disproportion
Hypertrophic cardiomyopathy 1; Left ventricular noncompaction 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy; MYH7-Related Disorders
Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Multiminicore myopathy; Centronuclear myopathy
RYR1-related myopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp)	rs587784379	0.00006
NM_000540.3(RYR1):c.424+4C>A	rs772775579	0.00002
NM_000540.3(RYR1):c.4766A>C (p.Gln1589Pro)	rs780420237	0.00001
NM_000540.3(RYR1):c.4958C>T (p.Ser1653Leu)	rs1043661945	0.00001
NM_000540.3(RYR1):c.10961T>C (p.Leu3654Pro)
NM_000540.3(RYR1):c.14600G>A (p.Ser4867Asn)	rs587784373
NM_000540.3(RYR1):c.14647-3C>G	rs1974401494
NM_000540.3(RYR1):c.15036G>T (p.Trp5012Cys)
NM_000540.3(RYR1):c.2044C>T (p.Arg682Trp)	rs776252106
NM_000540.3(RYR1):c.3556G>A (p.Gly1186Ser)	rs1568465251
NM_000540.3(RYR1):c.7355G>A (p.Arg2452Gln)	rs193922815
NM_000540.3(RYR1):c.9103G>C (p.Glu3035Gln)	rs1053579438
NM_000540.3(RYR1):c.9619G>A (p.Glu3207Lys)	rs2145677238

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