ClinVar Miner

List of variants studied for Mendelian encephalopathy by Solve-RD Consortium

Included ClinVar conditions (29):

Acute intermittent porphyria; Encephalopathy, porphyria-related; Leukoencephalopathy, porphyria-related
Congenital generalized lipodystrophy type 2; Hereditary spastic paraplegia 17; Severe neurodegenerative syndrome with lipodystrophy; Neuronopathy, distal hereditary motor, type 5C
Congenital generalized lipodystrophy type 2; Neuronopathy, distal hereditary motor, type 5A; Hereditary spastic paraplegia 17; Severe neurodegenerative syndrome with lipodystrophy
Congenital generalized lipodystrophy type 2; Severe neurodegenerative syndrome with lipodystrophy
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
Encephalitis/encephalopathy, mild, with reversible myelin vacuolization
Encephalitis/encephalopathy, mild, with reversible myelin vacuolization; Cardiac-urogenital syndrome
Encephalopathy due to defective mitochondrial and peroxisomal fission 2
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
Encephalopathy, porphyria-related
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
Encephalopathy, progressive, with amyotrophy and optic atrophy
Ethylmalonic encephalopathy
Familial acute necrotizing encephalopathy
Familial encephalopathy with neuroserpin inclusion bodies
Gerstmann-Straussler-Scheinker syndrome; Huntington disease-like 1; Spongiform encephalopathy with neuropsychiatric features
Hypoparathyroidism-retardation-dysmorphism syndrome; Autosomal recessive Kenny-Caffey syndrome; Encephalopathy, progressive, with amyotrophy and optic atrophy
Inherited Creutzfeldt-Jakob disease; Gerstmann-Straussler-Scheinker syndrome; Fatal familial insomnia; Huntington disease-like 1; Kuru, susceptibility to; Spongiform encephalopathy with neuropsychiatric features
NAD(P)HX dehydratase deficiency
Optic atrophy 5; Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
Severe neonatal-onset encephalopathy with microcephaly
Severe neonatal-onset encephalopathy with microcephaly; Syndromic X-linked intellectual disability Lubs type; X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly; Syndromic X-linked intellectual disability Lubs type; X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome; Autism, susceptibility to, X-linked 3
Severe neurodegenerative syndrome with lipodystrophy
Spongiform encephalopathy with neuropsychiatric features

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_014297.5(ETHE1):c.475C>T (p.Arg159Cys)	rs540383420	0.00001
NM_014297.5(ETHE1):c.131_132del (p.Glu44fs)	rs761827730

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