ClinVar Miner

List of variants studied for Mendelian encephalopathy by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

Included ClinVar conditions (26):

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
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
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
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Total variants: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001242882.2(NAXD):c.54_57del (p.Ala20fs)	rs773887880
NM_005993.5(TBCD):c.1126G>A (p.Val376Met)	rs183349235
NM_014297.5(ETHE1):c.717del (p.Phe239fs)
NM_016030.6(TRAPPC12):c.1604C>T (p.Ala535Val)	rs773583668
NM_016030.6(TRAPPC12):c.1776+16C>A	rs1553326322
NM_016030.6(TRAPPC12):c.1892T>G (p.Leu631Arg)	rs761982198
NM_144772.3(NAXE):c.804_807delinsA (p.Lys270del)	rs886041062

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