ClinVar Miner

List of variants studied for encephalomyelitis by GenomeConnect - Invitae Patient Insights Network

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
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_030930.4(UNC93B1):c.1210C>T (p.Pro404Ser)	rs377021545	0.00058
NM_030930.4(UNC93B1):c.133GAG[4] (p.Glu49del)	rs767892224

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