ClinVar Miner

Variants from Bioinformatics Unit, Institut Pasteur de Montevideo

Location: Uruguay  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
4 6 0 0 0 10

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic total
AFG2A 1 1 2
CLN8 0 2 2
SBDS 1 1 2
NFKB2 1 0 1
PAFAH1B1 0 1 1
SACS 1 0 1
SERPINA6 0 1 1

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic total
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 1 1 2
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant; Neuronal ceroid lipofuscinosis 8 0 2 2
Shwachman-Diamond syndrome 1 1 1 2
Charlevoix-Saguenay spastic ataxia 1 0 1
Corticosteroid-binding globulin deficiency 0 1 1
Immunodeficiency, common variable, 10 1 0 1
Lissencephaly due to LIS1 mutation 0 1 1

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