ClinVar Miner

List of variants in gene combination CPT2, LOC129930561 reported as likely benign for encephalomyelitis

Included ClinVar conditions (12):

Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmitoyl transferase II deficiency, neonatal form; Encephalopathy, acute, infection-induced, susceptibility to, 4
Encephalitis; Episodic vomiting; Recurrent fever; Myocarditis
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7
Encephalopathy, acute, infection-induced, susceptibility to, 4
Herpes simplex encephalitis, susceptibility to, 1
Herpes simplex encephalitis, susceptibility to, 3
Herpes simplex encephalitis, susceptibility to, 4
Immunodeficiency 83, susceptibility to viral infections
Muscle weakness; Spasticity; Hypertonia; Neurogenic bladder; Spastic gait; Abnormal cerebral white matter morphology; Cerebral venous thrombosis; Bone marrow hypocellularity; Myelitis; Abnormal thalamic MRI signal intensity; Abnormal brainstem MRI signal intensity; Combined immunodeficiency
Primary open angle glaucoma; Herpes simplex encephalitis, susceptibility to, 1; Frontotemporal dementia and/or amyotrophic lateral sclerosis 4; Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8
Susceptibility to HIV infection; Immunodeficiency 83, susceptibility to viral infections
Visual impairment; Optic atrophy; Central scotoma; Optic neuropathy; Optic neuritis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000098.3(CPT2):c.103C>T (p.Leu35=)	rs2929073	0.00003
NM_000098.3(CPT2):c.135C>T (p.Tyr45=)	rs1645327989	0.00001
NM_000098.3(CPT2):c.15G>C (p.Leu5=)	rs1443908294

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.