ClinVar Miner

List of variants studied for Mendelian encephalopathy by Mendelics

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: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005472.5(KCNE3):c.248G>A (p.Arg83His)	rs17215437	0.00338
NM_012062.5(DNM1L):c.1834A>T (p.Ile612Phe)	rs138133550	0.00073
NM_013275.6(ANKRD11):c.136G>A (p.Asp46Asn)	rs144947610	0.00064
NM_013275.6(ANKRD11):c.5632T>C (p.Ser1878Pro)	rs143743958	0.00046
NM_005472.5(KCNE3):c.10A>G (p.Thr4Ala)	rs200856070	0.00002
NC_000016.10:g.89282397dup	rs1597453026
NC_000016.10:g.89282939dup	rs1597455532
NM_001122752.2(SERPINI1):c.1174G>C (p.Gly392Arg)	rs121909054
NM_006267.5(RANBP2):c.1966A>G (p.Ile656Val)	rs121434504
NM_012062.5(DNM1L):c.1108T>C (p.Phe370Leu)	rs1592661973
NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys)	rs863223953
NM_012062.5(DNM1L):c.1571T>C (p.Leu524Ser)	rs1031075173
NM_012062.5(DNM1L):c.1822A>C (p.Lys608Gln)	rs1592688400
NM_012062.5(DNM1L):c.1915C>T (p.Arg639Trp)	rs1011225865
NM_013275.6(ANKRD11):c.7180C>T (p.Gln2394Ter)	rs863225296

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