ClinVar Miner

List of variants reported as pathogenic for Mendelian encephalopathy by Baylor Genetics

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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_014297.5(ETHE1):c.487C>T (p.Arg163Trp)	rs28940289	0.00004
NM_014297.5(ETHE1):c.488G>A (p.Arg163Gln)	rs745656120	0.00002
NM_005993.5(TBCD):c.967C>T (p.Arg323Ter)	rs773790897	0.00001
NM_014297.5(ETHE1):c.187C>T (p.Gln63Ter)	rs368778231	0.00001
NM_014297.5(ETHE1):c.388del (p.Arg130fs)	rs1236038385	0.00001
NM_014297.5(ETHE1):c.505+1G>A	rs935855792	0.00001
NM_014297.5(ETHE1):c.554T>G (p.Leu185Arg)	rs387906987	0.00001
NC_000019.9:g.(?_44015589)_(44015719_?)del
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)	rs28934907
NM_001110792.2(MECP2):c.842del (p.Gly281fs)	rs61750241
NM_001127392.3(MYRF):c.1543C>T (p.Gln515Ter)	rs2540953908
NM_005993.5(TBCD):c.1957C>T (p.Gln653Ter)	rs2060355104
NM_012062.5(DNM1L):c.1084G>A (p.Gly362Ser)	rs886037861
NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys)	rs863223953
NM_012062.5(DNM1L):c.763_764dup (p.Lys256fs)	rs1592631789
NM_014297.5(ETHE1):c.131_132del (p.Glu44fs)	rs761827730
NM_014297.5(ETHE1):c.221dup (p.Tyr74Ter)	rs863223955
NM_014297.5(ETHE1):c.596-1G>A	rs1487930609
NM_014297.5(ETHE1):c.702_703del (p.Gln235fs)	rs2513603665

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.