ClinVar Miner

List of variants in gene RYR1 reported as pathogenic for centronuclear myopathy

Included ClinVar conditions (16):

Autosomal dominant centronuclear myopathy
Autosomal dominant centronuclear myopathy; Arthrogryposis multiplex congenita
Autosomal dominant centronuclear myopathy; Myopathy, centronuclear, 5
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Multiminicore myopathy; Central core disease, autosomal recessive; Centronuclear myopathy
Centronuclear myopathy
Charcot-Marie-Tooth disease dominant intermediate B; Autosomal dominant centronuclear myopathy; Autosomal dominant Charcot-Marie-Tooth disease type 2M; Fetal akinesia-cerebral and retinal hemorrhage syndrome
Charcot-Marie-Tooth disease dominant intermediate B; Autosomal dominant centronuclear myopathy; Fetal akinesia-cerebral and retinal hemorrhage syndrome
Congenital myopathy with internal nuclei and atypical cores
Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Multiminicore myopathy; Centronuclear myopathy
Myopathy, centronuclear, 2
Myopathy, centronuclear, 5
Myopathy, centronuclear, 6, with fiber-type disproportion
Primary dilated cardiomyopathy; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Autosomal recessive centronuclear myopathy
Primary dilated cardiomyopathy; Myopathy, centronuclear, 2; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure
Severe X-linked myotubular myopathy
Split-foot malformation-mesoaxial polydactyly syndrome; Myopathy, centronuclear, 6, with fiber-type disproportion

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

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.10348-6C>G	rs193922837	0.00010
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)	rs118192173	0.00005
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu)	rs794728696
NM_000540.3(RYR1):c.1576+1G>A	rs2145393963
NM_000540.3(RYR1):c.4837C>T (p.Gln1613Ter)	rs1332371891
NM_000540.3(RYR1):c.5449del (p.Glu1817fs)	rs2145545066
NM_000540.3(RYR1):c.6797-6_6798del
NM_000540.3(RYR1):c.6891+1G>T
NM_000540.3(RYR1):c.8141_8142del (p.Tyr2714fs)

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