ClinVar Miner

Variants from Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust

Location: United Kingdom — Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
13 5 4 0 4 26

Gene and significance breakdown #

Total genes and gene combinations: 19
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
DOCK8 2 0 0 4 6
COLQ 0 2 0 0 2
SPG7 2 0 0 0 2
AGRN 0 0 1 0 1
CACNA1A 1 0 0 0 1
CTPS1 1 0 0 0 1
FLNC 0 0 1 0 1
KCNT1 1 0 0 0 1
KIF11 1 0 0 0 1
KPTN 0 0 1 0 1
LZTR1 0 0 1 0 1
PAPSS2 1 0 0 0 1
PRKAG2 1 0 0 0 1
PTPRC 1 0 0 0 1
SPAST 0 1 0 0 1
SYNGAP1 0 1 0 0 1
TNNT3 1 0 0 0 1
TP63 1 0 0 0 1
WDR45 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance benign total
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 2 0 0 4 6
Endplate acetylcholinesterase deficiency 0 2 0 0 2
Spastic paraplegia 7 2 0 0 0 2
ARTHROGRYPOSIS, DISTAL, TYPE 2B2 1 0 0 0 1
Cardiomyopathy, familial hypertrophic, 26 0 0 1 0 1
Early infantile epileptic encephalopathy 14 1 0 0 0 1
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 1 0 0 0 1
Epileptic encephalopathy, early infantile, 42 1 0 0 0 1
Glycogen storage disease of heart, lethal congenital 1 0 0 0 1
Immunodeficiency 24 1 0 0 0 1
Mental retardation, autosomal dominant 5 0 1 0 0 1
Mental retardation, autosomal recessive 41 0 0 1 0 1
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 1 0 0 0 1
Myasthenic syndrome, congenital, 8 0 0 1 0 1
Neurodegeneration with brain iron accumulation 5 0 1 0 0 1
Noonan syndrome 2 0 0 1 0 1
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 1 0 0 0 1
Spastic paraplegia 4, autosomal dominant 0 1 0 0 1
Spondyloepimetaphyseal dysplasia, pakistani type 1 0 0 0 1

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