ClinVar Miner

List of variants studied for creatine phosphokinase, elevated serum by Center for Personalized Medicine, Children's Hospital Los Angeles

Included ClinVar conditions (12):

Elevated circulating creatine kinase concentration
Elevated circulating creatine kinase concentration; Atrial septal defect
Elevated circulating creatine kinase concentration; Distal muscle weakness; Fatty replacement of skeletal muscle
Elevated circulating creatine kinase concentration; Dystonic disorder; Global developmental delay; Abnormal female external genitalia morphology; Oculomotor apraxia; Orofacial dyskinesia; Abnormal globus pallidus morphology; Involuntary movements; Hypoplastic female external genitalia; Rhabdomyolysis
Elevated circulating creatine kinase concentration; Hypertrophic cardiomyopathy 1; Long QT syndrome 9; Rippling muscle disease 2; Distal myopathy, Tateyama type
Elevated circulating creatine kinase concentration; Lower limb muscle weakness; Distal lower limb amyotrophy
Elevated circulating creatine kinase concentration; Migraine; Difficulty walking; Positive Romberg sign; Paresthesia; EMG: neuropathic changes; Progressive spinal muscular atrophy; Absent muscle fiber calpain-3
Elevated circulating creatine kinase concentration; Muscle weakness; Ptosis; Hypomimic face; Hepatic steatosis; EMG abnormality; EMG: myopathic abnormalities; EMG: myotonic runs; Progressive proximal muscle weakness
Elevated circulating creatine kinase concentration; Myalgia; Exercise-induced myalgia
Elevated circulating creatine kinase concentration; Polycystic kidney disease; Achilles tendon contracture; Lower limb amyotrophy; Lower limb muscle weakness
Elevated circulating creatine kinase concentration; Progressive proximal muscle weakness
Elevated circulating creatine kinase concentration; Sensory neuropathy; Polyneuropathy; Elevated circulating alkaline phosphatase concentration; Peripheral axonal neuropathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 2

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004667.6(HERC2):c.5045A>G (p.Asn1682Ser)	rs140073033	0.00007
NM_000540.3(RYR1):c.1312G>C (p.Glu438Gln)	rs765668209

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.