ClinVar Miner

Variants from Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades, CHU Paris - Hôpital Necker-Enfants Malades

Location: France  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
33 13 0 0 0 46

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic total
KCNB1 18 11 29
GFM1 10 1 11
FARS2 4 0 4
FARS2, LOC126859565 1 0 1
POLD1 0 1 1

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic total
Epileptic encephalopathy 13 6 19
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 10 1 11
Intellectual disability 3 4 7
Combined oxidative phosphorylation defect type 14 5 0 5
Early infantile epileptic encephalopathy with suppression bursts 2 2 4
developmental encephalopathy with epilepsy 3 0 3

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