ClinVar Miner

List of variants studied for centronuclear myopathy by 3billion, Medical Genetics

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
		ClinVar version:

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005876.5(SPEG):c.8239C>T (p.Arg2747Cys)	rs757903145	0.00001
NM_000252.3(MTM1):c.1210G>A (p.Glu404Lys)	rs781933660
NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln)	rs587783772
NM_000252.3(MTM1):c.1467+1G>T	rs587783798
NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys)	rs121909092
NM_001005361.3(DNM2):c.1840G>A (p.Asp614Asn)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.