ClinVar Miner

List of variants reported as pathogenic for centronuclear myopathy by ClinGen Congenital Myopathies Variant Curation Expert Panel, ClinGen

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

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp)	rs121909090	0.00001
NM_000252.3(MTM1):c.141_144del	rs587783791
NM_000252.3(MTM1):c.1644+1G>A	rs398123272
NM_000252.3(MTM1):c.205C>T (p.Arg69Cys)	rs132630304
NM_000252.3(MTM1):c.614C>T (p.Pro205Leu)	rs587783841
NM_000252.3(MTM1):c.670C>T (p.Arg224Ter)	rs132630306
NM_001005361.3(DNM2):c.1106G>A (p.Arg369Gln)	rs121909089
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp)	rs121909091
NM_001005361.3(DNM2):c.1852G>A (p.Ala618Thr)	rs773598203
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu)	rs121909095

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