ClinVar Miner

List of variants reported as uncertain significance for TPM2-related myopathy by MGZ Medical Genetics Center

Included ClinVar conditions (17):

Arthrogryposis, distal, type 1A; Congenital myopathy 23
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; 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 myopathy 23
TPM2-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: 10

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.12886C>T (p.Arg4296Trp)	rs995399684	0.00035
NM_000540.3(RYR1):c.2383C>T (p.Arg795Cys)	rs547608972	0.00026
NM_000540.3(RYR1):c.7336G>A (p.Gly2446Ser)	rs375148516	0.00006
NM_000540.3(RYR1):c.9703A>C (p.Ser3235Arg)	rs747488155	0.00001
NM_000540.3(RYR1):c.10749GGA[1] (p.Glu3584del)
NM_000540.3(RYR1):c.14599A>G (p.Ser4867Gly)
NM_000540.3(RYR1):c.1492A>T (p.Thr498Ser)
NM_000540.3(RYR1):c.2753A>G (p.Asn918Ser)
NM_000540.3(RYR1):c.6995T>G (p.Leu2332Arg)
NM_000540.3(RYR1):c.7426A>T (p.Ile2476Phe)

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