ClinVar Miner

List of variants in gene combination CPT2, LOC129930561 reported as likely pathogenic 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: 5

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HGVS	dbSNP	gnomAD frequency
NM_000098.3(CPT2):c.28_29insAGCAAG (p.Trp10Ter)	rs1374482155	0.00001
NM_000098.3(CPT2):c.75del (p.Ser26fs)	rs1057517493	0.00001
NM_000098.3(CPT2):c.106dup (p.Gln36fs)
NM_000098.3(CPT2):c.29G>A (p.Trp10Ter)
NM_000098.3(CPT2):c.63dup (p.Ser22fs)

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