ClinVar Miner

Variants from TIDEX, University of British Columbia

Location: Canada — Primary collection method: research
Minimum submission review status: Collection method:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
12 14 20 0 0 46

Gene and significance breakdown #

Total genes and gene combinations: 33
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
DGKZ 1 0 1 2
GCDH 0 1 1 2
ITPA 1 0 1 2
MAT1A 0 0 2 2
MECP2 2 0 0 2
MED13L 0 0 2 2
NBAS 0 0 2 2
PALM 0 0 2 2
RANBP2 0 0 2 2
SPAST 0 2 0 2
TBCK 0 1 1 2
TMEM67 2 0 0 2
WDR45 1 0 1 2
AKT3 0 1 0 1
ASXL1 1 0 0 1
ATP1A3 1 0 0 1
ATP8A2 0 0 1 1
CHRNA1 0 0 1 1
CSTB 0 1 0 1
EHMT1 1 0 0 1
EPHA4 0 1 0 1
GNAO1 0 1 0 1
KANK1 0 0 1 1
KCNJ6 0 1 0 1
KIDINS220 0 1 0 1
KMT2C 0 0 1 1
NAA10 0 1 0 1
PAK3 0 0 1 1
PLP1, RAB9B 1 0 0 1
PLXNA2 0 1 0 1
SCN3A 0 1 0 1
TCF4 0 1 0 1
TUBB4A 1 0 0 1

Condition and significance breakdown #

Total conditions: 28
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Condition pathogenic likely pathogenic uncertain significance total
atypical cerebral palsy 1 3 4 8
COACH syndrome 2 0 0 2
Encephalopathy, acute, infection-induced, 3, suceptibility to 0 0 2 2
Epileptic encephalopathy, early infantile, 35 1 0 1 2
Glutaric aciduria, type 1 0 1 1 2
Hepatic methionine adenosyltransferase deficiency 0 0 2 2
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 0 1 1 2
Mental retardation and distinctive facial features with or without cardiac defects 0 0 2 2
Neurodegeneration with brain iron accumulation 5 1 0 1 2
Rett syndrome 2 0 0 2
Short stature, optic nerve atrophy, and Pelger-Huet anomaly 0 0 2 2
Spastic paraplegia 4, autosomal dominant 0 2 0 2
C-like syndrome 1 0 0 1
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 0 0 1 1
Cerebral palsy, spastic quadriplegic, 2 0 0 1 1
Chromosome 9q deletion syndrome 1 0 0 1
Dystonia 12 1 0 0 1
Early infantile epileptic encephalopathy 17 0 1 0 1
Keppen-Lubinsky syndrome 0 1 0 1
Leukodystrophy, hypomyelinating, 6 1 0 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 0 1 0 1
Mental retardation 30, X-linked 0 0 1 1
Myasthenic syndrome, slow-channel congenital 0 0 1 1
N-terminal acetyltransferase deficiency 0 1 0 1
Pelizaeus-Merzbacher disease 1 0 0 1
Pitt-Hopkins syndrome 0 1 0 1
Spastic paraplegia, intellectual disability, nystagmus, and obesity 0 1 0 1
Unverricht-Lundborg syndrome 0 1 0 1

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