ClinVar Miner

List of variants reported as pathogenic for centronuclear myopathy by Baylor Genetics

Included ClinVar conditions (17):

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
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Autosomal dominant centronuclear myopathy; Early-onset myopathy with fatal cardiomyopathy
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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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000252.3(MTM1):c.1261-10A>G	rs397518445
NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln)	rs587783772
NM_000252.3(MTM1):c.1337G>A (p.Trp446Ter)	rs587783778
NM_000252.3(MTM1):c.342_342+4del	rs797045717
NM_000252.3(MTM1):c.591_594del (p.Tyr198fs)	rs587783839
NM_000252.3(MTM1):c.721C>T (p.Arg241Cys)	rs132630305
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp)	rs121909091
NM_001005361.3(DNM2):c.1565G>A (p.Arg522His)	rs587783595

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